A hapless case of 5q minus

Abstract

The 5q-syndrome is a myelodysplastic syndrome (MDS) characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal/elevated platelet counts, normal/reduced neutrophil counts, erythroid hypoplasia, and hypolobated micro-megakaryocytes in the bone marrow. A thalidomide analogue, lenalidomide, induces transfusion independence and cytogenetic remission in a substantial number of patients. This case is presented for its rarity and therapeutic challenge. A postmenopausal female patient presented to the Outpatient Department with a history of progressive drop in hemoglobin and white blood cells for the last 6 months, for which she was on oral hematinics. The peripheral smear and bone marrow showed classical findings of pseudo-Pelger-Huet neutrophils and hypolobated megakaryocytes with no excess of blasts, respectively. Molecular studies were positive for 5q deletion (46, XX, del[5][q33q35]). Lenalidomide therapy was started, a year after starting treatment, the patient progressed to MDS with increased blasts-2 and subsequently to acute myeloid leukemia within 2 months. The karyotyping done at this time suggested evolution of a complex karyotype and presence of an additional translocation 46, XX, del (3) (q12), t (5;7) (q13; q22). The patient succumbed to multiple infections approximately 1.5 years after diagnosis.