Utility of JAK2 V617F allelic burden in distinguishing chronic myelomonocytic Leukemia from Primary myelofibrosis with monocytosis
| Autor: | Pei Lin, Zhihong Hu, Srdan Verstovsek, Wei Wang, C. Cameron Yin, Jie Xu, Carlos E. Bueso Ramos, Shimin Hu, L. Jeffrey Medeiros, Beenu Thakral, Shaoying Li, Chong Zhao |
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| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Myeloid Chronic myelomonocytic leukemia Pathology and Forensic Medicine Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Monocytosis Fibrosis hemic and lymphatic diseases Left shift medicine Humans Myelofibrosis Alleles Aged Aged 80 and over medicine.diagnostic_test business.industry Complete blood count Leukemia Myelomonocytic Chronic Janus Kinase 2 Middle Aged medicine.disease 030104 developmental biology medicine.anatomical_structure Primary Myelofibrosis Dysplasia 030220 oncology & carcinogenesis Mutation Female business Megakaryocytes |
| Zdroj: | Human Pathology. 85:290-298 |
| ISSN: | 0046-8177 |
| Popis: | The concurrent presence of JAK2 V617F, monocytosis, and bone marrow fibrosis can be observed in both chronic myelomonocytic leukemia (CMML) and primary myelofibrosis (PMF). It can be challenging to distinguish CMML with JAK2 mutation and fibrosis from other myeloid neoplasms, particularly PMF. To identify key features that may help distinguish these 2 entities, we retrospectively studied 21 cases diagnosed as "CMML" with JAK2 V617F and bone marrow fibrosis that were identified from a cohort of 610 cases of CMML diagnosed in 2006 to 2016. Upon further review, we confirmed the diagnosis of CMML in 7 cases, 11 cases were reclassified as PMF, and 3 cases had features intermediate between CMML and PMF (gray zone). These 11 cases of PMF with monocytosis featured a higher JAK2 V617F allelic burden (median, 43%; range, 20%-62%) and atypical pleomorphic megakaryocytes with hyperchromatic nuclei. Complete blood count showed more pronounced myeloid left shift. In contrast, 7 CMML cases had significantly lower JAK2 V617F allelic burden (median, 17%; range, 5%-36%; P < .0001) and dysplastic megakaryocytes along with variable degree of dysplasia in other lineages. The median survival of PMF and CMML patients was 32 and 40 months, respectively. We conclude that besides morphology of megakaryocytes and other features, JAK2 V617F allelic burden can help differentiate CMML from PMF with monocytosis. SRSF2 and RAS mutations are observed in both disease categories. Rare gray-zone cases exist with hybrid features. |
| Databáze: | OpenAIRE |
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