Myeloid/lymphoid neoplasm with ZMYM2::FGFR1 rearrangement: A complex trilineage phenotypic and clonal evolution with associated genomic alterations

伴有ZMYM2::FGFR1重排的髓系/淋巴系肿瘤:复杂的三系表型和克隆演变以及相关的基因组改变

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Abstract

We report a case of myeloid/lymphoid neoplasm with ZMYM2::FGFR1 rearrangement (MLN(ZMYM2::FGFR1)) exhibiting a complex disease evolution. This neoplasm initially presented as T-lymphoblastic lymphoma (T-LBL) in lymph node and myeloproliferative neoplasm (MPN) with eosinophilia in bone marrow, then transitioned to systemic mastocytosis (SM) likely accompanied by additional JAK3 and other mutations and finally transformed to acute myeloid leukemia (AML) accompanied by additional/secondary genetic abnormality (gain of chromosome 21, der(13)t(8;13), and RUNX1 mutation). To our knowledge, this is the first case of MLN(ZMYM2::FGFR1) with a complex trilineage/phenotypic [T-cell (T-LBL), mast cell (SM), and myeloid (MPN and AML)] lineage evolution.

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