Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases
- PMID: 34589432
- PMCID: PMC8474637
- DOI: 10.3389/fonc.2021.730503
Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases
Abstract
Mast cell leukemia with associated hematologic neoplasm (MCL-AHN) is a rare and highly aggressive entity that remains understudied due to the paucity of cases. We present a case of a 45-year-old man who was concurrently diagnosed with mast cell leukemia and acute myeloid leukemia. We identified four additional patients who had MCL-AHN in our institution and performed whole-exome sequencing of all available tumors. Our series revealed a novel and identical NR2F6 variant shared among two of the patients. This case series and sequencing results demonstrate the importance of fully characterizing rare tumors that are resistant to treatment.
Keywords: acute myeloid leukemia; associated hematologic neoplasm; mast cell leukemia; systemic mastocytosis (SM); whole-exome sequencing.
Copyright © 2021 Li, Biancon, Patel, Pan, Kothari, Halene, Prebet and Xu.
Conflict of interest statement
MX serves as a consultant (advisory board) for Blueprint Medicines and for Seattle Genetics. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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