Myeloid Neoplasm with t(8;22)(p11;q11): A Mimicker of Chronic Myeloid Leukaemia in Blast Crisis
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Myeloid Neoplasm with t(8;22)(p11;q11): A Mimicker of Chronic Myeloid Leukaemia in Blast Crisis Gargi Kapatia1 • Arun Sasikumar Nair Remani2 • Shano Naseem1 Mayur Parihar2 • Sreejesh Sreedharanunni1
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Received: 25 July 2020 / Accepted: 26 August 2020 Ó Indian Society of Hematology and Blood Transfusion 2020
To the Editor, A diagnosis of t(9;22)/BCR-ABL1 positive chronic myeloid leukaemia (CML) is often considered as the most common differential diagnosis in a patient with massive splenomegaly, leucoerythroblastic blood picture with basophilia and low leukocyte alkaline phosphatase (LAP) score. We report a rare but a close mimicker of CML with prognostic and therapeutic implications. A 55-year-old woman presented with pain and dragging sensation of the abdomen of 2 weeks duration. Examination revealed pallor and massive splenomegaly. The haemoglobin was 92 g/L, platelet count 39 9 109/L and total leucocyte count 116.7 9 109/L. Peripheral blood film showed a leucoerythroblastic picture with left shift, 48% blasts, basophilia (9%) and eosinophilia (absolute eosinophil count/AEC—5.9 9 109/L) (Fig. 1a). Bone marrow aspirate and biopsy also revealed myeloid prominence with 50% myeloid blasts (confirmed by multicolour flow cytometry) and reticulin fibrosis (Fig. 1b, c). The LAP score was also very low. Megakaryocytes were adequately seen and included a few dwarf forms. Together with clinical features, the morphological findings were highly suggestive of a myeloproliferative neoplasm (MPN)/CML in blast crisis. Sequential molecular testing for BCR-ABL1 (e1a2, e13a2, e14a2) chimeric gene fusion (CGF), JAK2V617F and CALR (type 1 and 2) mutations were
& Sreejesh Sreedharanunni [email protected]; [email protected] 1
Department of Hematopathology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
2
Department of Cytogenetics and Lab Haematology, Tata Medical Center, Kolkata, India
negative. Because of hypereosinophilia, fluorescent in-situ hybridization (FISH) testing for FIP1L1–PDGFRA (Vysis tri-colour probe, Abbott, USA), PDGFRB, FGFR1, ABL1, and JAK2 re-arrangements (dual-colour break-apart probes, CytoTest, USA) was performed, which revealed an atypical signal pattern consistent with FGFR1 translocation. Karyotyping and matched metaphase FISH studies confirmed t(8;22)(p11;q11)/BCR-FGFR1 translocation (Fig. 1d–f). He was advised chemotherapy and allogeneic stem cell transplantation in view of poor prognosis; however, denied treatment and stopped visits to the hospital. Haematologists often make a diagnosis of CML based on typical clinical and laboratory features. However, t(9;22)/BCR-ABL1 negative myeloid neoplasms mimicking CML are increasingly recognized. Patients with t(8;22)(p11;q11)/BCR-FGFR1 show a strong clinical and hematological resemblance to t(9;22)(q34;q11)/BCR-ABL1 positive CML [1]. t(8;22) results in an in-frame fusion of FGFR1/8p11 and BCR/22q11 resulting in constitutive activation of the tyrosine kinase, similar to BCR/ABL1. Since its firs
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