Case Report

Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia

Table 1

Characteristics of the current and previously published cases of myelodysplastic syndrome with acquired elliptocytosis.

Age and genderFAB classification2016 WHO classificationCytogeneticsIPSS-R scoreReported outcomeReference number

81, maleRAMDS-like CMML46,XY,i(14)(q10)/46,XY3-4 (blasts <5% but may be >2%)NR[6]
67, femaleRA-EBMDS-EB-2del(20)(q11q13)5NR[17]
72, maleRAMDS-MLDNR0–5 (cytogenetics NR, blasts <5% but may be >2%)Death, 8 years after diagnosis[13]
75, maleRAMDS-MLDDel(20q)(q11.2)2-3 (blasts <5% but may be >2%)NR[18]
59, maleRAMDS-MLD44, XY; -3, -5, 12p+, -15, 17p and 45, XY; -5, 12p+, -15,17p7NR[14]
60, maleRA-EBMDS-EB-1Del(20q)4Progressed to AML within 1 year of MDS diagnosis, death 1 year later[14]
82, maleRAMDS-SLD or MLD46 XY, del(20q)(q11.2)1.5–3 (blasts <5% but may be >2%, ANC NR)NR[19]
79, maleRAMDS-SLD or MLD46 XY, del(20q)(q11.2)1.5–2.5 (blasts <5% but may be >2%)NR[19]
78, maleRAMDS-SLD or MLDDel(20)(q11.2)1-2 (blasts <5% but may be >2%)NR[9]
74, femaleRAMDS-SLD or MLDt(14)3-4 (blasts <5% but may be >2%)NR[9]
77, maleRAMDS-SLD or MLDDel(20q)1-2 (blasts <5% but may be >2%)NR[9]
66, maleRAMDS-U or CCUS46,XY,del(20)(q11.2)2.5–3 (ANC NR)Progressed to RA-EB, achieved remission with therapy[10]
59, maleRAMDS-MLDDel(20q)2.5–4.5 (platelets NR, blasts <5% but may be >2%)NR[11]
72, maleRAMDS-SLD+1,der(1;5)(q10;p10),t(1;5)(p10;q10),del(20)(q11)5Reported to have remained well for 18 months at publication[12]
70, maleRARSMDS –RS-MLD46,XY,del(20)(q11.2q13.3)/47,idem,+del(20)5.5Death, 1 month after diagnosisCurrently reported case

FAB and 2016 WHO classifications were determined using data from published cases. Where data are not sufficient to determine classification, the possible classifications based on available information are shown. IPSS-R score calculated using data from published cases. Where insufficient data is available, the range of possible scores is presented with missing information noted in parentheses. General abbreviations: ANC: absolute neutrophil count, MPN: myeloproliferative neoplasm, NA: not applicable, NR: not reported, FAB abbreviations: RA: refractory anemia, RA-EB: refractory anemia with excess blasts, RARS: refractory anemia with ring sideroblasts. WHO 2016 abbreviations: MDS-SLD: MDS with single lineage dysplasia, MDS-MLD: MDS with multilineage dysplasia, MDS-MLD-RS: MDS with multilineage dysplasia and ring sideroblasts, MDS-EB-1/2: MDS with excess blasts 1 or 2, MDS-U: MDS unclassifiable, AML: acute myeloid leukemia, CMML: chronic myelomonocytic leukemia, CCUS: clonal cytopenia of unclear significance. One case not included in this report was classified as MDS/MPN when published in 2008 but would now be classified as AML based on 25% blasts on bone marrow biopsy. Molecular data available for this case; reported findings included no mutation in JAK2, CALR, or MPL.