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Late Recurrence in Ovarian Dysgerminoma Presenting as a Primary Retroperitoneal Tumor: A Case Report and Review of the Literature
Ovarian dysgerminoma is a rare type of germ cell tumor. The majority of patient relapses occur within 2 years of diagnosis. Here, we report the case of a 74-year-old woman with a history of ovarian dysgerminoma 39 years earlier. The patient visited the hospital presenting with heartburn. An abdominal computed tomography (CT) revealed a right retroperitoneal mass, and a primary retroperitoneal tumor was suspected. She underwent surgical resection of the retroperitoneal tumor. Histological examination confirmed a metastatic dysgerminoma to the retroperitoneum. Postoperative CT showed paraaortic and cervical lymph node metastases. The patient was treated with bleomycin, etoposide, and cisplatin chemotherapy. This case demonstrates the difficulties that may be encountered in the differential diagnosis of a retroperitoneal mass and underlines the necessity for understanding a patient’s clinical history.
Cholangiolytic Changes in Statin-Induced Liver Injury
Atorvastatin is a commonly used oral cholesterol-lowering agent. Side effects associated with statin therapy include arthralgia, myalgia, dyspepsia, weakness, and headache. Prospective and retrospective studies of drug-induced liver injury have identified statin-induced hepatotoxicity, with atorvastatin being the most commonly cited. Associated liver function test elevations have varied from hepatocellular to cholestatic/mixed pattern. We report a case of a 58-year-old woman that illustrates unusual histologic findings associated with a mixed pattern of statin-induced liver injury. While being treated with atorvastatin, the patient exhibited repeated bouts of abdominal pain over a year associated with biliary tree dilation, variably attributed to postcholecystectomy dilation and stenosis of the ampulla of Vater. Following sphincterotomy, the patient’s bilirubin normalized but the other liver function tests remained elevated. Liver biopsy revealed portal and lobular inflammation with cholangiolysis. The patient’s liver function tests normalized following cessation of atorvastatin therapy.
Collision Glial Neoplasms Arising in an Ovarian Mature Cystic Teratoma: A Rare Event
Germ cell neoplasms represent around 20% of all ovarian tumors. They most frequently affect children and young adults. Mature cystic teratoma is a common benign ovarian neoplasm comprising about 95% and is made up of all three germ cell embryonic layers. By definition, mature cystic teratoma may be derived from any of the three germ cell lines. On the other hand, immature teratomas contain primitive neuroepithelial elements. However, it is quite uncommon in the English literature to have a neuroepithelial glial neoplasm arising in a mature cystic teratoma of an adolescent. Interestingly enough, all published cases described a single type of glial neoplasm arising in mature ovarian teratoma. Herein, the authors discuss a unique case of concomitant occurrence of two different glial neoplasms, namely pilocytic astrocytoma and subependymoma arising in an ovarian mature cystic teratoma. To the best of our knowledge, this is the first reported case with such a distinctive histopathologic finding.
Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature
Pilocytic astrocytoma is a low-grade glial neoplasm of the central nervous system (CNS) that tends to occur in the pediatric population and less commonly presents in adults. Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. Sporadic pilocytic astrocytoma frequently harbors somatic alterations in BRAF, with rare pilocytic astrocytomas containing alterations in FGFR1 and NTRK2. NTRK2 encodes for the protein tropomyosin receptor kinase B (TrkB), which is a neurotrophin receptor with high affinity for Brain-Derived Neurotrophic Factor (BDNF), and plays a role in several physiological functions of neurons, including cell survival and differentiation. In this report, we describe a novel PML-NTRK2 gene fusion occurring in an adult sporadic pilocytic astrocytoma and review the biology and implications of specific NTRK2 mutations occurring in CNS neoplasms.
Histopathological Findings Related to ORISE™ Injectable Submucosa Lifting Agent Used in the Endoscopic Mucosal Resection of Bowel Neoplasms: A Review of Three Cases
The use of nonsaline injectable lifting agents is now routine in the performance of endoscopic mucosal resection of bowel neoplasms (EMR). These agents are used to elevate the mucosa from the muscularis propria and permit more a complete resection of the lesion while mitigating risk of possible thermal injury to the bowel wall and thus preventing perforation. After injection, these new agents, which are replacing normal saline, often remain present in the tissues for some time following the procedure and may be identified in the resection specimens where they may mimic a number of other conditions such as mucin pools, lymphangiomas, granulomatous inflammation, and amyloid deposition. We describe the histological findings associated with the use of nonsaline injectable mucosal lifting agents. Awareness of these agents and their associated artefact may reduce misdiagnosis or the use of unnecessary ancillary studies and highlights the importance of proving relevant clinical information on submission of specimens for pathological examination.
Primary Intraosseous Synovial Sarcoma with Molecular Confirmation: Expanding and Clarifying the Spectrum of This Rare Neoplasm
Synovial sarcoma is a well-known malignant tumor usually originating within deep soft tissues of the lower extremities of adolescents and young adults. Rare radiologically confirmed examples of primary bone synovial sarcoma have been documented, generally in isolated case reports. Herein, we report two cases of primary intraosseous synovial sarcoma, with molecular confirmation, involving the left humerus of a 45-year-old female and the right fourth metatarsal bone in a 36-year-old male. Additionally, we clarify the spectrum of primary intraosseous synovial sarcoma by separately analyzing reported cases with radiographic confirmation of bone origin and molecular support for the diagnosis. There are clinicopathologic differences between those tumors with documented molecular confirmation and those lacking such confirmation, specifically regarding their anatomic distribution (). Regarding the radiology of our two cases, the humeral lesion appeared almost entirely intramedullary without soft tissue extension; the midfoot lesion demonstrated a destructive, metatarsal-centered bone lesion, initially thought clinically to represent primary bone osteosarcoma. The diagnoses of monophasic synovial sarcoma were rendered via core needle biopsies, with molecular FISH confirmation of SYT gene rearrangement. Clinical follow-up data was only available for the female patient with the primary humeral lesion, who underwent surgical resection, with no local recurrence or distant metastasis at 7 months postsurgery. To our knowledge, these are the first reported examples of molecularly confirmed, primary intraosseous synovial sarcomas of the humerus and metatarsal bones. Primary intraosseous synovial sarcomas with molecular confirmation differ clinically from those lacking it; however, the demographic features and metastatic potential appear similar to primary soft tissue synovial sarcoma.