Secondary chronic myeloid leukemia in a patient with CALR and ASXL1-mutated primary myelofibrosis

• Published in: International journal of hematology Vol. 116; no. 3; pp. 442 - 445
• Main Authors: Sobieralski, Patryk, Bieniaszewska, Maria, Leszczyńska, Aleksandra, Żuk, Monika, Wasąg, Bartosz, Zaucha, Jan Maciej
• Format: Journal Article
• Language: English
• Published: Singapore Springer Nature Singapore 01.09.2022; Springer Nature B.V
• Subjects: Abl1 gene; Biopsy; Bone marrow; Case Report; Chronic myeloid leukemia; Hematology; Janus kinase 2; Kinases; Leukemia; Medicine; Medicine & Public Health; Molecular evolution; Mutation; Myelofibrosis; Myeloid leukemia; Neoplasms; Oncology; Pathogenesis; Patients; Protein-tyrosine kinase; Spleen; Transplants & implants; Tumors; Tyrosine; ASXL1; Primary myelofibrosis; Chronic myeloid leukemia; CALR; BCR–ABL1
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-022-03331-x

Development of secondary CML has only been casually described, with few reports attempting to analyze and explain the mechanisms behind this phenomenon. Reported cases vary with regard to presumed pathogenesis and clinical characteristics, but similarities can be observed. This report presents the case of a patient diagnosed with CALR and ASXL1-mutated primary myelofibrosis who developed CML 13 years after the initial diagnosis. In contrast with previously reported cases, this patient did not have JAK2 or ABL1 gene mutations, and also exhibited primary resistance to tyrosine kinase inhibitor (TKI) treatment. Here, we analyze the molecular evolution of CML and describe successful treatment with concomitant therapy including a TKI and JAK inhibitor. This report aims to deepen clinical experience and further broaden knowledge about chronic myeloproliferative neoplasms.