Abstract：
: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.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Hu Z,Ramos CEB,Medeiros LJ,Zhao C,Yin CC,Li S,Hu S,Wang W,Thakral B,Xu J,Verstovsek S,Lin Pdoi
10.1016/j.humpath.2018.10.026subject
Has Abstractpub_date
2019-03-01 00:00:00pages
290-298eissn
0046-8177issn
1532-8392pii
S0046-8177(18)30423-4journal_volume
85pub_type
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