Case Reports in Hematology http://www.hindawi.com The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Primary Lymphoma of Bone Presenting as Spindle Cell Neoplasm of the Vertebral Body: A Case Report and Review of the Literature Thu, 23 Apr 2015 11:22:11 +0000 http://www.hindawi.com/journals/crihem/2015/518307/ Spindle cell variant of lymphoma is a very rare but known disease entity that can mimic a sarcoma. Diagnosis can be even more challenging if the only site of the disease is in the bone. We report a case of primary lymphoma of bone with spindle cell morphology which was successfully treated with a combination of surgery, chemotherapy, and radiotherapy. Mahakit Inklab, Richard H. Steingart, and Jonathan K. Freeman Copyright © 2015 Mahakit Inklab et al. All rights reserved. Successful Aortic Aneurysm Repair in a Woman with Severe von Willebrand (Type 3) Disease Sun, 19 Apr 2015 17:01:28 +0000 http://www.hindawi.com/journals/crihem/2015/703803/ von Willebrand disease type 3 (VWD3) is a rare but the most severe form of von Willebrand disease; it is due to almost complete lack of von Willebrand factor activity (VWF:RCo). It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.02 IU/dL. The bleeding is managed with von Willebrand/FVIII factor concentrate replacement therapy. In this rare but challenging case we report on the successful excision and repair of an ascending aortic aneurysm following adequate VWF/FVIII factor concentrate replacement using Haemate-P. Victoria Campbell, Kevin Marriott, Rex Stanbridge, and Abdul Shlebak Copyright © 2015 Victoria Campbell et al. All rights reserved. Nonsecretory Multiple Myeloma Presenting as an Intestinal Tumor Thu, 16 Apr 2015 06:33:15 +0000 http://www.hindawi.com/journals/crihem/2015/818715/ We report a case of a 43-year-old Caucasian man who presented with colicky abdominal pain and microcytic hypochromic anemia. The patient underwent a colonoscopy where a tumor was seen in the ascending colon; histology showed plasmacytoma of the colon. From the protein electrophoresis, no monoclonal band or free light chains were detected nor was urinary Bence Jones protein present. A bone marrow biopsy showed plasma cell myeloma. To the best of our knowledge, this is the first case of nonsecretory multiple myeloma presenting as plasmacytoma of the colon. Diana Triantafyllopoulou, Stuart Mellor, Catherine Cargo, Ioannis Gkikas, Jagdish Adiyodi, Ayub Ali Bin, Neil Sahasrabudhe, and Margaret Rokicka Copyright © 2015 Diana Triantafyllopoulou et al. All rights reserved. Rare Form of Erdheim-Chester Disease Presenting with Isolated Central Skeletal Lesions Treated with a Combination of Alfa-Interferon and Zoledronic Acid Wed, 08 Apr 2015 12:46:51 +0000 http://www.hindawi.com/journals/crihem/2015/876752/ Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis, which manifests under an extensive variety of clinical symptoms. This creates a challenge for the physician, who is required to recognize and diagnose the disease in the early stages. Despite this considerable challenge, in the last decade there has been a dramatic increase in ECD diagnoses, in most part due to an increasing awareness of this rare disorder. Involvement of the axial skeleton is exclusively uncommon with no official recommendations for the treatment of the bone lesions. Here, we present a case report of a young male patient with isolated lesions of the spine, ribs, and pelvis, who was successfully treated with a combination therapy of alfa-interferon and zoledronic acid. E. N. Bulycheva, V. V. Baykov, M. I. Zaraĭskiĭ, and G. N. Salogub Copyright © 2015 E. N. Bulycheva et al. All rights reserved. Optimal Molecular Methods in Detecting p190BCR-ABL Fusion Variants in Hematologic Malignancies: A Case Report and Review of the Literature Wed, 08 Apr 2015 08:30:20 +0000 http://www.hindawi.com/journals/crihem/2015/458052/ Patients with BCR-ABL1 positive hematologic malignancies and Philadelphia-like B-lymphoblastic leukemia (B-ALL) are potential candidates for targeted therapy with tyrosine kinase inhibitors (TKI). Before TKIs, patients with B-ALL had a much worse prognosis and current treatments with targeted TKI therapy have improved outcomes. Thus, the detection of BCR-ABL1 is crucial and a false negative BCR-ABL1 result may adversely affect patient care. We report a case of a 76-year-old male with a new diagnosis of B-ALL who was initially found to be BCR-ABL1 negative by quantitative polymerase chain reaction (PCR). A concurrent qualitative PCR was performed which detected a positive BCR-ABL1 result that was confirmed by a next generation sequencing (NGS) based assay and identified as the rare fusion variant e1a3 of p. Based on this result, the patient was placed on dasatinib as a targeted therapy. In the era of molecular diagnostic medicine and targeted therapy, it is essential to have an understanding of the limitations of molecular assays and to follow a comprehensive diagnostic approach in order to detect common abnormalities and rare variants. Incorporating NGS methods in an algorithmic manner into the standard diagnostic PCR-based approach for BCR-ABL1 will aid in minimizing false negative results. Rebecca J. Sonu, Brian A. Jonas, Denis M. Dwyre, Jeffrey P. Gregg, and Hooman H. Rashidi Copyright © 2015 Rebecca J. Sonu et al. All rights reserved. Danazol: An Effective Option in Acquired Amegakaryocytic Thrombocytopaenic Purpura Sun, 05 Apr 2015 15:57:38 +0000 http://www.hindawi.com/journals/crihem/2015/171253/ Acquired amegakaryocytic thrombocytopaenic purpura (AATP) is a rare haematological condition characterised by isolated thrombocytopaenia with normal other cell lines. It is often initially misdiagnosed as immune thrombocytopaenic purpura but has characteristic bone marrow findings of reduced megakaryocyte numbers. The optimal treatment of AATP is not clearly defined but revolves around immunosuppressive therapies. We report a case of successful treatment of AATP with danazol, an antioestrogenic medication. We also review the aetiologies and pathogenesis of the disorder and suggest that danazol should be considered as an effective alternative to potent immunosuppression in AATP. E. Mulroy, S. Gleeson, and S. Chiruka Copyright © 2015 E. Mulroy et al. All rights reserved. Localized Lymph Node Light Chain Amyloidosis Thu, 02 Apr 2015 07:06:03 +0000 http://www.hindawi.com/journals/crihem/2015/816565/ Immunoglobulin-derived light chain amyloidosis can occasionally be associated with localized disease. We present a patient with localized lymph node light chain amyloidosis without an underlying monoclonal protein or lymphoproliferative disorder and review the literature of lymph node amyloidosis discussing work-up and risk factors for systemic progression. Binod Dhakal, Alexandra M. Harrington, Michael E. Stadler, and Anita D’Souza Copyright © 2015 Binod Dhakal et al. All rights reserved. Treatment of Acquired von Willebrand Syndrome and Prevention of Bleeding Postautologous Stem Cell Transplant during Severe Pancytopenia with IVIG Thu, 02 Apr 2015 06:56:43 +0000 http://www.hindawi.com/journals/crihem/2015/809313/ The use of high dose chemotherapy followed by autologous hematopoietic stem cell transplantation for remission consolidation after initial induction represents standard of care for patients with multiple myeloma. Patients with myeloma and Acquired von Willebrand Syndrome (AVWS) undergoing autologous stem cell transplant (ASCT) are at significant risk of bleeding due to the profound thrombocytopenia, low Factor VIII levels, fever, and toxicities associated with the preparative regimen. We report a patient with AVWS associated with multiple myeloma who underwent autologous stem cell transplants as consolidation after initial induction and again at relapse. He was successfully treated with high dose intravenous immunoglobulin (IVIG) prior to each transplant with rapid resolution of AVWS. Behyar Zoghi, Paul Shaughnessy, Roger M. Lyons, Richard Helmer III, Carlos Bachier, and C. Frederick LeMaistre Copyright © 2015 Behyar Zoghi et al. All rights reserved. Two Cases of Primary Cold Agglutinin Disease Associated with Megaloblastic Anemia Mon, 30 Mar 2015 10:44:13 +0000 http://www.hindawi.com/journals/crihem/2015/913795/ We report two cases of primary cold agglutinin disease (CAD) associated with megaloblastic anemia in Japanese elderly patients. Case 1 was a 67-year-old male and Case 2 was a 55-year-old male. Both patients were diagnosed with primary CAD, with continuously high cold agglutinin titers (1 : >8,192 and 1 : 16,834, resp.), monoclonal IgM-kappa light chains, and no underlying disease. In addition, both patients had megaloblastic anemia due to vitamin B12 deficiency. One patient received rituximab and both received vitamin 12 supplementation. To date, no cooccurrence of primary CAD and megaloblastic anemia has been emphasized. Thus, the association of these hematological diseases may be incidental; however, given that CAD is an autoimmune disease which may show antibodies against intrinsic factor and gastric parietal cells, this association was thought to be probably not a coincidence. Clinicians should be aware of the possible simultaneous presence of autoimmune hemolytic/megaloblastic anemia in patients with primary CAD. Shinsaku Imashuku, Naoko Kudo, Katsushige Takagishi, and Katsuyasu Saigo Copyright © 2015 Shinsaku Imashuku et al. All rights reserved. Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy Mon, 30 Mar 2015 10:00:50 +0000 http://www.hindawi.com/journals/crihem/2015/253294/ Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation. Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient’s course in detail and review the literature on HI with chelation. Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias. Harpreet Kochhar, Chantal S. Leger, and Heather A. Leitch Copyright © 2015 Harpreet Kochhar et al. All rights reserved. Lymph Node Flow Cytometry as a Prompt Recognition of Ultra Early Onset PTLD: A Successful Case of Rituximab Treatment Tue, 24 Mar 2015 13:49:50 +0000 http://www.hindawi.com/journals/crihem/2015/430623/ Ultra early posttransplantation lymphoproliferative disorder (PTLD) is a rare and fatal complication after hematopoietic stem cell transplantation (HSCT). Here we report, by lymph node (LN) flowcytometry, that we early recognized ultra early PTLD after an HLA-matched sibling allo-HSCT followed by a successful treatment with anti-CD20 antibody (rituximab) in a patient in progress disease for angioimmunoblastic T-cell lymphoma (AITL). The patient was conditioned with a reduced intensity conditioning (RIC) regimen. One week after transplantation, the patient developed high fever, generalized fatigue, high Epstein-Barr virus (EBV) load, and LN enlargement. An LN lymphocyte suspension and peripheral blood flowcytometry was performed to find majority of LN lymphocytes highly expressed CD20. By highly suspicious PTLD, 4 doses of rituximab (375 mg/m2 qw) were given immediately followed by reducing and withdrawing immunosuppressant reagent. PTLD was later confirmed by pathology. The patient had good response to rituximab, showing absence of fever, reduction in LN size, and no detectable EBV-DNA. Twenty months after HSCT, the patient remains well without evidence of AITL and PTLD. The current report is one of the earliest cases of PTLD after HSCT. Taken together, by LN flowcytometry as a prompt recognition, rituximab can be an effective preemptive therapy for ultra early developed PTLD. Xiaofan Li, Nainong Li, Ting Yang, Zhizhe Chen, and Jianda Hu Copyright © 2015 Xiaofan Li et al. All rights reserved. JAK2V617F: Is It Sufficient as a Single Player in Splanchnic Venous Thrombosis? Tue, 24 Mar 2015 11:36:41 +0000 http://www.hindawi.com/journals/crihem/2015/373490/ Splanchnic venous thrombosis (SVT) includes thrombosis of the hepatic, portal, and mesenteric venous system. Myeloproliferative neoplasms (MPNs) are important factors of SVT in adults. Addition of JAK2V617F mutation in WHO criteria for diagnosis of MPNs has made this test a useful tool for diagnosis. JAK2 is an intracytoplasmic tyrosine kinase that plays a critical role in signal transduction from multiple hematopoietic factor receptors. The mutation is found frequently in patients with SVT; many such patients have no other manifestations of an MPN. Although the correlation of JAK2V617F mutation with thrombotic risk in MPNs has been shown in many studies, the impact of presence of additional thrombophilic factors in these cases is yet not known. As the management of MPNs remains highly dependent on the patient’s thrombotic risk, it is important to assess the thrombotic risk factors in detail. Here, we report two cases of JAK2V617F positive MPN who also had other thrombophilic conditions and presented with recurrent thrombosis. Pratibha Dhiman and Priyanka Saxena Copyright © 2015 Pratibha Dhiman and Priyanka Saxena. All rights reserved. Nelarabine Associated Myotoxicity and Rhabdomyolysis Wed, 18 Mar 2015 10:39:27 +0000 http://www.hindawi.com/journals/crihem/2015/825670/ Nelarabine (ara-G; Arranon; compound 506U78) is an antineoplastic purine analog used for the treatment of refractory or relapsed T-cell acute lymphoblastic leukemia (T-ALL) and T-cell lymphoblastic lymphoma (T-LBL). The drug was granted accelerated approval in October 2005 by the US Food and Drug Administration (FDA) given the efficacy (induction of complete responses) noted in 2 single-arm trials (one in pediatric setting and one in adult patient population). The main spectra of toxicities that have been reported in these clinical trials and subsequent studies are hematological and neurological. Nelarabine induced rhabdomyolysis and increased creatinine phosphokinase (CK; CPK) levels apparently have been reported and this side effect has been added as an adverse reaction in the product monograph from the drug company during postmarketing surveillance. However, the true extent and incidence of the myotoxicity from the drug are unclear. In this paper we report a grade IV CK elevation and rhabdomyolysis in a patient with T-ALL treated with nelarabine. Given the reported finding, we examined the literature further for myotoxicity, increased CK, and/or rhabdomyolysis associated with the use of the nelarabine and report our findings. Mahnur Haider, Syed Ahsan Rizvi, and Pashtoon Murtaza Kasi Copyright © 2015 Mahnur Haider et al. All rights reserved. Virus-Associated Hemophagocytic Syndrome in Renal Transplant Recipients: Report of 2 Cases from a Single Center Sun, 08 Mar 2015 14:15:10 +0000 http://www.hindawi.com/journals/crihem/2015/876301/ Virus-associated hemophagocytic syndrome (HPS) is a potentially fatal complication of immunosuppression for transplantation. However, it presents with heterogeneous clinical symptoms (fever, disturbed consciousness, and hepatosplenomegaly) and laboratory findings (pancytopenia, elevated hepatic enzyme levels, abnormal coagulation, and hyperferritinemia), impeding diagnosis. Case 1: A 39-year-old female developed fever 4 years after ABO-incompatible living-related renal transplantation. Laboratory findings revealed thrombocytopenia, elevated hepatic enzymes, Epstein-Barr virus (EBV) DNA seropositivity, and hyperferritinemia. EBV-associated HPS was confirmed by bone marrow aspiration. Steroid pulse therapy and etoposide were ineffective. Disseminated intravascular coagulation resulted in multiple organ failure, and the patient died 32 days after disease onset. Case 2: A 67-year-old male was admitted with rotavirus enteritis a month after living-unrelated renal transplantation. He developed sudden-onset high fever, disturbance of consciousness, and tachypnea 8 days after admission. Laboratory findings revealed elevated hepatic enzyme levels, hyperkalemia, and hyperferritinemia. Emergency continuous hemodiafiltration ameliorated the fever, and steroid pulse therapy improved abnormal laboratory values. Varicella-zoster virus meningitis was confirmed by spinal tap. Acyclovir improved consciousness, and he was discharged 87 days after admission. Fatal virus-associated HPS may develop in organ transplant patients receiving immunosuppressive therapy. Pathognomonic hyperferritinemia is useful for differential diagnosis. Koji Nanmoku, Takayuki Yamamoto, Makoto Tsujita, Takahisa Hiramitsu, Norihiko Goto, Akio Katayama, Shunji Narumi, Yoshihiko Watarai, Takaaki Kobayashi, and Kazuharu Uchida Copyright © 2015 Koji Nanmoku et al. All rights reserved. A Complicated Case of Acute Promyelocytic Leukemia in the Second Trimester of Pregnancy Successfully Treated with All-trans-Retinoic Acid Mon, 02 Mar 2015 12:01:32 +0000 http://www.hindawi.com/journals/crihem/2015/634252/ A 40-year-old female at 26-week gestation was diagnosed with acute promyelocytic leukemia (APL) after an abnormal prenatal lab workup showed pancytopenia. She was treated with all-trans-retinoic acid (ATRA), idarubicin, and dexamethasone. After day one of treatment, she developed differentiation syndrome, which was treated with dexamethasone. At 30-week gestation, she had preterm premature rupture of membranes and delivered by cesarean section because of the fetus’ breech presentation. Despite ATRA’s potential for teratogenicity, a viable infant was born without apparent anomalies. Postpartum, she underwent consolidation treatment with ATRA and arsenic trioxide (ATO). The patient continued ATRA therapy after delivery and is currently in remission. Kanika Agarwal, Megha Patel, and Vandana Agarwal Copyright © 2015 Kanika Agarwal et al. All rights reserved. Pulmonary Langerhans Cell Histiocytosis with Lytic Bone Involvement in an Adult Smoker: Regression following Smoking Cessation Wed, 18 Feb 2015 12:35:33 +0000 http://www.hindawi.com/journals/crihem/2015/201536/ Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm characterized by the proliferation and dissemination of histiocytes. These in turn may cause symptoms ranging from isolated, infiltrative lesions to severe multisystem disease. Pulmonary Langerhans cell histiocytosis (PLCH) presents as a localized polyclonal proliferation of Langerhans cells in the lungs causing bilateral cysts and fibrosis. In adults, this rare condition is considered a reactive process associated with cigarette smoking. Recently, clonal proliferation has been reported with the presence of BRAF V600E oncogenic mutation in a subset of PLCH patients. Spontaneous resolution was described; however, based on case series, smoking cessation remains the most effective way to achieve complete remission and prevent long term complications related to tobacco. Herein, we report the case of an adult woman with biopsy-proven PLCH presenting with thoracic (T8) vertebral bone destruction. Both the lung and the bone diseases regressed following smoking cessation, representing a rare case of synchronous disseminated PCLH with bone localization. This observation underscores the contribution of cigarette smoking as a systemic trigger of both pulmonary and extrapulmonary bone lesions. A review of similar cases in the literature is also presented. B. Routy, J. Hoang, and J. Gruber Copyright © 2015 B. Routy et al. All rights reserved. Transformation of an Unclassified Myeloproliferative Neoplasm with a Rare BCR-JAK2 Fusion Transcript Resulting from the Translocation (9;22)(p24;q11) Wed, 18 Feb 2015 06:35:18 +0000 http://www.hindawi.com/journals/crihem/2015/252537/ BCR-ABL1 negative myeloproliferative neoplasms (MPNs) are known to contain alterations of the tyrosine kinase JAK2 (located on 9p24) that result in constitutive activation of the encoded protein. JAK2 fusions are reported in acute and chronic leukemias of myeloid and lymphoid phenotypes. Here, we report an unclassified case of MPN (MPN-U) showing a t(9;22)(p24;q11), which generates a BCR-JAK2 fusion gene by fusing the BCR at intron 13 to JAK2 at intron 17 on the derivative chromosome 22. Most reported JAK2 fusions cases reveal an aggressive clinical course and long-term remissions have only been achieved after allogeneic stem cell transplantation (ASCT). To the best of our knowledge, this is the thirteenth case reported worldwide to describe a BCR-JAK2 fusion transcript in MPN-U. The present report revealed a sustained complete clinical, hematologic, and cytogenetic remission 35 months after diagnosis and ~24 months after ASCT. Regarding BCR-ABL1  negative MPN patients this case report provides strong support for a role of JAK2 activation in the oncogenesis and suggests a possible diagnostic and therapeutic target that should be investigated. A. N. Chamseddine, P. Etancelin, D. Penther, F. Parmentier, C. Kuadjovi, V. Camus, N. Contentin, P. Lenain, C. Bastard, H. Tilly, and F. Jardin Copyright © 2015 A. N. Chamseddine et al. All rights reserved. Hyperhemolysis Syndrome without Underlying Hematologic Disease Tue, 17 Feb 2015 09:42:51 +0000 http://www.hindawi.com/journals/crihem/2015/180526/ Introduction. Hyperhemolysis is characterized by a life-threatening hemolytic transfusion reaction, with hemoglobin (Hb) and hematocrit (Hct) dropping markedly lower than before transfusion. This phenomenon, commonly described in sickle cell disease, is a rare occurrence in patients without hemoglobinopathies. Case Report. A 55-year-old male presented to the hospital after a motorcycle crash and received 10 units of cross-matched blood for active bleeding. The patient was blood group O, with a negative antibody screen. Ten days later, he represented complaining of dyspnea and was found to have a hematocrit of 12%. The direct antiglobulin test was positive for anti-immunoglobin G and complement. Indirect antiglobulin test was positive for anti-Jka alloantibodies. The presence of Jka antigen was revealed in one unit of previously transfused blood; patient’s RBCs were negative for the Jka antigen. Laboratory data demonstrated findings consistent with DHTR, as well as reticulopenia and elevated ferritin levels. He continued to show signs of active hemolysis, requiring a total of 4 subsequent units of pRBCs. Each transfusion precipitated a drop in Hb and Hct to levels lower than before transfusion; once transfusions were held, the patient slowly recovered. Discussion. Hyperhemolysis in the setting of a DHTR can occur in patients without hematologic disease. Lauren Anne Eberly, Diaa Osman, and Nathaniel Perryman Collins Copyright © 2015 Lauren Anne Eberly et al. All rights reserved. A Proven Case of Cutaneous Rhizopus Infection Presenting with Severe Limb Pain Very Soon after Induction Treatment in a Patient with Acute Lymphoblastic Leukemia Sun, 15 Feb 2015 12:55:46 +0000 http://www.hindawi.com/journals/crihem/2015/285360/ Objective and Importance. Invasive mucormycosis may complicate the course of patients with hematologic malignancies and has a very high mortality rate. Early diagnosis and aggressive approach combined with surgical and medical treatment have paramount importance for cure. Clinical Presentation. We report here a case of a patient with acute lymphoblastic leukemia presenting with a subcutaneous mass lesion which was sampled by an ultrasound guided needle biopsy. The pathology showed microorganisms with aseptate hyphae with wide, irregular walls and more or less branching with highly vertical angles which suggested a mold infection. The specimen was also cultured where Rhizopus spp. grew. Conclusion. Posaconazole 200 mg QID was commenced. She recovered from neutropenia and pain on day 20 of treatment. After 4 courses of hyper-CVAD chemotherapy, the remaining soft tissue mass was removed surgically and she underwent allogeneic HSCT from a full matched sibling donor under secondary prophylaxis. Mehmet Sezgin Pepeler, Kadir Acar, Özlem Güzel Tunçcan, Ömer Uluoğlu, Ayşe Kalkancı, Hakan Atalar, Koray Kılıç, and Gülsan Türköz Sucak Copyright © 2015 Mehmet Sezgin Pepeler et al. All rights reserved. Epstein-Barr Virus-Related Hemophagocytic Lymphohistiocytosis: Hematologic Emergency in the Critical Care Setting Tue, 10 Feb 2015 10:46:31 +0000 http://www.hindawi.com/journals/crihem/2015/491567/ Hemophagocytic lymphohistiocytosis (HLH) is a rare and potential life-threatening clinical syndrome that results from uncontrolled activation of the immune system. Secondary HLH, more commonly observed in adult patients, is seen in the context of underlying triggering conditions. Epstein-Barr virus (EBV) has been recognized as the leading infectious cause and is associated with a poor outcome. As clinical and laboratory features of HLH could overlap with septic shock syndrome in most patients, the diagnosis of HLH, especially in adults, is the most challenging aspect of the disease that results in delayed recognition and treatment of rapidly progressive multiorgan system failure. We report a case of Hemophagocytic lymphohistiocytosis in a patient who presented with signs of septic shock syndrome and we review the literature on the topic. Neda Hashemi-Sadraei, Pimprapa Vejpongsa, Muhamed Baljevic, Lei Chen, and Modupe Idowu Copyright © 2015 Neda Hashemi-Sadraei et al. All rights reserved. Serum Total Tryptase Level Confirms Itself as a More Reliable Marker of Mast Cells Burden in Mast Cell Leukaemia (Aleukaemic Variant) Tue, 10 Feb 2015 08:15:33 +0000 http://www.hindawi.com/journals/crihem/2015/737302/ Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) with a short median survival of 6 months. We describe a case of a 65-year-old woman with aleukaemic variant of MCL with a very high serum total tryptase level of 2255 μg/L at diagnosis, which occurred following an episode of hypotensive shock. She fulfilled the diagnostic criteria of SM, with a bone marrow smear infiltration of 50–60% of atypical mast cells (MCs). She tested negative for the KIT D816V mutation, without any sign of organ damage (no B- or C-findings) and only few mediator-related symptoms. She was treated with antihistamine alone and then with imatinib for the appearance of anemia. She maintained stable tryptase level and a very indolent clinical course for twenty-two months; then, she suddenly progressed to acute MCL with a serum tryptase level up to 12960 μg/L. The patient died due to haemorrhagic diathesis twenty-four months after diagnosis. This clinical case maybe represents an example of the chronic form of mast cell leukemia, described as unpredictable disease, in which the serum total tryptase level has confirmed itself as a reliable marker of mast cells burden regardless of the presence of other signs or symptoms. P. Savini, M. Rondoni, G. Poletti, A. Lanzi, O. Quercia, S. Soverini, C. De Benedittis, G. Musardo, G. Martinelli, and G. F. Stefanini Copyright © 2015 P. Savini et al. All rights reserved. Renal and Neurological Response with Eculizumab in a Patient with Transplant Associated Thrombotic Microangiopathy after Allogeneic Hematopoietic Progenitor Cell Transplantation Thu, 29 Jan 2015 12:12:04 +0000 http://www.hindawi.com/journals/crihem/2015/425410/ Transplantation-associated thrombotic microangiopathy (TA-TMA) is a challenge after allogeneic hematopoietic progenitor cell transplantation, considering the diagnostic uncertainties and lack of established treatment. We report a 43-year-old male patient who was diagnosed as TA-TMA after allogeneic progenitor cell transplantation for a progressive ALK negative anaplastic large cell lymphoma and responded to eculizumab with dramatically improving neurological status and renal function. Rapid neurological and renal recovery achieved after eculizumab could support a possible relationship between complement activation and TA-TMA. Eculizumab should be a reasonable treatment approach in patients with TA-TMA after allogeneic hematopoietic progenitor cell transplantation. Ömür Gökmen Sevindik, İnci Alacacıoğlu, Abdullah Katgı, Şerife Medeni Solmaz, Celal Acar, Özden Pişkin, Mehmet Ali Özcan, Fatih Demirkan, Bülent Ündar, and Güner Hayri Özsan Copyright © 2015 Ömür Gökmen Sevindik et al. All rights reserved. Long Complete Remission Achieved with the Combination Therapy of Cisplatin and Gemcitabine in a Patient with Aggressive Natural Killer Cell Leukemia Wed, 28 Jan 2015 09:31:59 +0000 http://www.hindawi.com/journals/crihem/2015/715615/ Aggressive natural killer cell leukemia (ANKL) is a rare and often lethal lymphoproliferative disorder. Patients may present with constitutional symptoms, jaundice, skin infiltration, lymphadenopathy, and hepatosplenomegaly. ANKL can progress quickly to multiorgan failure and survival is usually measured in weeks. Although a rapid and accurate diagnosis is critical, unfortunately there is no hallmark diagnostic marker of ANKL. We report a case of a 48-year-old male who was able to obtain a complete remission following cisplatin-based chemotherapy. We describe the details of the chemotherapy regimens used and a literature review of the treatment of ANKL. Justin LaPorte, Lawrence Morris, and John Koepke Copyright © 2015 Justin LaPorte et al. All rights reserved. Relapse of Multiple Myeloma Presenting as Extramedullary Plasmacytomas in Multiple Organs Wed, 28 Jan 2015 07:44:11 +0000 http://www.hindawi.com/journals/crihem/2015/452305/ Multiple myeloma is a neoplastic plasma cell disorder. It is characterized by collections of abnormal plasma cells accumulating in the bone marrow, where they interfere with the production of normal blood cells. It usually presents as a multisystemic involvement, whose symptoms and signs vary greatly. Some patients have slowly progressive disease while others have aggressive clinical behavior by extramedullary involvement. In addition to renal failure, anemia, hypercalcemia, lytic bone lesions, and immunodeficiency, it also affects multiple organ system, such as pancreas, adrenal glands, kidney, skin, lung, liver, spleen, lymph nodes, and bone. To raise awareness of the variable presentations of this disease, we report a 53-year-old male patient, with multiple myeloma in his first remission who relapsed with extramedullary plasmacytomas (EMPs) involving multiple organs, such as pancreas, adrenal glands, kidney, skin, lung, liver, spleen, and lymph nodes. Murat Köse, Ersida Buraniqi, Timur Selçuk Akpinar, Seyit Mehmet Kayacan, and Tufan Tükek Copyright © 2015 Murat Köse et al. All rights reserved. High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA Mon, 26 Jan 2015 10:05:10 +0000 http://www.hindawi.com/journals/crihem/2015/343854/ Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. Here, we present a case of a 50-year-old man who presented with signs and symptoms of acute leukemia with concern for APL. Therapy was immediately initiated with all-trans retinoic acid. The morphology of his leukemic blasts was consistent with the hypogranular variant of APL. Subsequent FISH and cytogenetic analysis revealed a unique translocation involving five chromosomal regions: 9q34, 17q21, 15q24, 12q13, and 15q26.1. Molecular testing demonstrated PML/RARA fusion transcripts. Treatment with conventional chemotherapy was added and he went into a complete remission. Given his elevated white blood cell count at presentation, intrathecal chemotherapy for central nervous system prophylaxis was also given. The patient remains on maintenance therapy and remains in remission. This is the first such report of a 5-way chromosomal translocation leading to APL. Similar to APL with chromosomal translocations other than classical t(15;17) which result in the typical PML-RARA fusion, our patient responded promptly to an ATRA-containing regimen and remains in complete remission. Benjamin Powers, Diane Persons, Deepthi Rao, Janet Woodroof, and Tara L. Lin Copyright © 2015 Benjamin Powers et al. All rights reserved. Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India Mon, 26 Jan 2015 07:36:22 +0000 http://www.hindawi.com/journals/crihem/2015/792485/ The most frequent form of congenital dyserythropoiesis (CDA) is congenital dyserythropoietic anemia II (CDA II). CDA II is a rare genetic anemia in humans, inherited in an autosomally recessive mode, characterized by hepatosplenomegaly normocytic anemia and hemolytic jaundice. Patients are usually transfusion-independent except in severe type. We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. Patient has had up until now more than 14 mL/kg/month of packed cell volume (PCV), which he required every 15 to 20 days to maintain his hemoglobin of 10 gm/dL and hematocrit of 30%. His pre-HSCT serum ferritin was 1500 ng/mL and he was on iron chelating therapy. Donor was HLA identical sibling (younger brother). The preparative regimen used was busulfan, cyclophosphamide, and antithymocyte globulin (Thymoglobulin). Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis. Engraftment of donor cells was quick and the posttransplant course was uneventful. The patient is presently alive and doing well and he has been transfusion-independent for the past 33 months after HSCT. Gaurang Modi, Sandip Shah, Irappa Madabhavi, Harsha Panchal, Apurva Patel, Urmila Uparkar, Asha Anand, Sonia Parikh, Kinnari Patel, Kamlesh Shah, and Swaroop Revannasiddaiah Copyright © 2015 Gaurang Modi et al. All rights reserved. A Case of a Laryngeal MALT Lymphoma in a Patient with a History of Gastric MALT Sun, 18 Jan 2015 07:28:50 +0000 http://www.hindawi.com/journals/crihem/2015/109561/ We are reporting a case of a 62-year-old African American woman with a history of gastric MALT lymphoma successfully treated with radiation who presented with a laryngeal MALT lymphoma 4 years after her original diagnosis. She received definitive radiation with a complete response. The case presented is unique for the rare presentation of a MALT lymphoma in the larynx, especially in light of the patient’s previously treated gastric MALT lymphoma years ago. Mark Ashamalla, Marita S. Teng, Joshua Brody, Elizabeth Demicco, Rahul Parikh, Kavita Dharmarajan, and Richard L. Bakst Copyright © 2015 Mark Ashamalla et al. All rights reserved. Human Herpesvirus-6 Pneumonitis around the Engraftment of Cord Blood Transplantation following Foscarnet Prophylaxis in a Patient with Acute Leukemia Sun, 11 Jan 2015 12:48:43 +0000 http://www.hindawi.com/journals/crihem/2015/949265/ Human herpesvirus-6 (HHV-6) reactivation is sometimes observed in immunocompromised patients, especially after allogeneic stem cell transplantation. The complications of HHV-6 reactivation in this setting are mainly recognized as HHV-6 encephalitis. We herein report the case of a patient who developed HHV-6 pneumonitis after cord blood transplantation (CBT). A 35-year-old male underwent CBT for T-cell/myeloid mixed phenotype acute leukemia and achieved neutrophil engraftment on day 31. He had received foscarnet as prophylaxis for HHV-6 reactivation. A computed tomography (CT) scan to evaluate the leukemic tumor showed bilateral interstitial pneumonitis on day 33, although he had no respiratory symptoms. The findings of the CT scan were consistent with those of HHV-6 pneumonitis that were reported previously. HHV-6 DNA, but no other pathogens, was detected in his bronchoalveolar lavage (BAL) fluid. The patient was successfully treated with a therapeutic dose of foscarnet. This case indicates that performing a CT scan around the time of neutrophil engraftment can play an important role in detecting the early phase of HHV-6 pneumonia, and BAL should be considered if features consistent with HHV-6 pneumonitis are observed in patients with a risk of HHV-6 reactivation. Takashi Ishio, Tomoyuki Endo, Kohei Okada, Akio Shigematsu, Satoshi Hashino, and Takanori Teshima Copyright © 2015 Takashi Ishio et al. All rights reserved. Sirolimus-Based Immunosuppression as GvHD Prophylaxis after Bone Marrow Transplantation for Severe Aplastic Anaemia: A Case Report and Review of the Literature Mon, 05 Jan 2015 13:58:49 +0000 http://www.hindawi.com/journals/crihem/2015/321602/ Congenital or acquired severe aplastic anaemia (SAA) is cured by bone marrow transplantation (BMT) from a histocompatible leukocyte antigen- (HLA-) identical sibling. The best conditioning regimen is cyclophosphamide (CTX) with or without antithymocyte globulin (ATG), followed by short-term methotrexate (MTX) and cyclosporine A (CsA) to prevent graft-versus-host disease (GvHD). In our pediatric oncology-hematology unit, a 5-year-old girl with SAA was treated with two BMT from the same HLA-identical sibling donor. Severe CsA-induced adverse events (severe hypertension and PRES) after the first BMT led necessarily to CSA withdrawal. Alternative immunosuppressive treatment for GvHD prevention as tacrolimus and mycophenolate were not tolerated by our patient because toxicity > grade II. For this reason we decided to administrate sirolimus alone as GvHD prophylaxis and to prevent disease relapse after the rescue BMT. Here we report the successful use of sirolimus alone for GvHD prophylaxis after the second transplant in a pediatric BMT setting for SAA. Katia Perruccio, Elena Mastrodicasa, Francesco Arcioni, Ilaria Capolsini, Carla Cerri, Grazia Gurdo, and Maurizio Caniglia Copyright © 2015 Katia Perruccio et al. All rights reserved. Primary Hepatic Lymphoma in a Patient with Rheumatoid Arthritis Treated with Methotrexate Wed, 24 Dec 2014 09:24:10 +0000 http://www.hindawi.com/journals/crihem/2014/460574/ Primary hepatic lymphoma (PHL) has rarely been reported in patients with immunosuppression. We herein describe a case of Epstein-Barr virus- (EBV-) positive PHL in a 67-year-old Japanese woman receiving methotrexate (MTX) treatment for rheumatoid arthritis (RA). The patient, who had been receiving MTX therapy for more than 6 years, presented with low-grade fever and abdominal pain. Initial laboratory tests showed mildly elevated liver enzymes with normal levels of alpha-fetoprotein and carcinoembryonic antigen, and computed tomography scans revealed multiple hepatic tumors with no lymph-node swelling. Examination of liver specimens obtained via ultrasonography-guided needle biopsy indicated EBV-positive diffuse large B cell lymphoma; therefore, she was diagnosed with PHL. MTX was discontinued, and she was carefully monitored thereafter owing to the prolonged history of MTX administration for RA. Rapid progression of PHL was observed; therefore 10 days after the PHL diagnosis, she received 6 cycles of R-THP-COP (rituximab, cyclophosphamide, pirarubicin, vincristine, and prednisolone) therapy and achieved complete remission for more than 1 year. Although MTX-associated lymphoproliferative disorders often show remission after withdrawal of MTX, early diagnosis and treatment are essential for PHL in patients with RA treated with MTX, because of the aggressive nature of the disease. Goichi Tatsumi, Naoya Ukyo, Hirokazu Hirata, and Mitsuru Tsudo Copyright © 2014 Goichi Tatsumi et al. All rights reserved.