An 81-year-old male was referred to our hospital due to dyspnoea. He was found to have pancytopenia (haemoglobin concentration 79 g/l, platelets 117 9 10 9 /l, white blood cells 1.6 9 10 9 /l) and mean corpuscular volume of 106.6 fl. A peripheral blood film revealed marked elliptocytosis (top image). Bone marrow examination showed a hypocellular bone marrow (blast cells 1.2%) with dyserythropoiesis and dysmegakaryopoiesis. Chromosomal analysis showed 46,XY, der(14;20)(q10;p10),+mar[2]/47,idem,+8[17]/46,XY[1] (lower image). A diagnosis of myelodysplastic syndrome (MDS) with multilineage dysplasia was made. Acquired elliptocytosis due to MDS is the most likely diagnosis in this case since the patient had no history of anaemia. He was started on erythropoietin-stimulating agent monotherapy; however, he chose to discontinue the treatment in order to avoid frequent outpatient treatment during to the COVID-19 pandemic, and returned to the clinic nearest to his home for supportive care alone.Acquired elliptocytosis is most commonly observed in MDS, with del(20q) being frequently seen in such cases. The der(14;20)(q10;p10), resulting from an unbalanced wholearm translocation results in the loss of 14p and 20q. Our patient thus illustrates an alternative cytogenetic mechanism for the acquired elliptocytosis seen in MDS.
Background and Case
We herein present a case of the co‐occurrence of
JAK2
‐mutated essential thrombocythemia (ET) with chronic lymphocytic leukemia (CLL) harboring the recurrent and rare whole‐arm translocation, der(8;17)(q10;q10). The co‐existence of lymphoproliferative neoplasms and myeloproliferative neoplasms is suggested to be a rare event. Under this condition, the lymphoproliferative disorder presents a clinically indolent course with a low‐risk biological profile. However, the present case showed aggressive disease progression, reflecting a poor prognostic factor; that is, the loss of 17p caused by the whole‐arm der(8;17)(q10;q10) translocation.
Conclusion
The present case report emphasizes the importance of considering the involvement of a genetically poor prognostic factor, regardless of the co‐occurrence of CLL and ET.
An 80-year-old male was referred to our hospital with dyspnea on effort. He had a history of diffuse large B-cell lymphoma 2 years ago, for which he was treated with chemotherapy, including rituximab, cyclophosphamide, vincristine, doxorubicin, and prednisolone. His laboratory data included a white blood cell count of 1.9 × 10 9 /L, a hemoglobin concentration of 10.5 g/dl, and a platelet count of 92 × 10 9 /L. His serum lactate dehydrogenase level was 196 U/L.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.