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Case Reports
. 2021 Sep 13:11:730503.
doi: 10.3389/fonc.2021.730503. eCollection 2021.

Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases

Philippa Li  1 , Giulia Biancon  2 , Timil Patel  2 , Zenggang Pan  1 , Shalin Kothari  2 , Stephanie Halene  2 , Thomas Prebet  2 , Mina L Xu  1
Affiliations
Case Reports

Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases

Philippa Li et al. Front Oncol. .

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.

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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.

Figures

Figure 1
Figure 1
Patient 1 bone marrow aspirate and trephine biopsy. (A, B) Bone marrow aspirate smear (Wright-Giemsa, ×400, ×1,000) is notable for numerous mast cells intermixed with myeloblasts. Degranulated mast cells are interspersed throughout the bone marrow aspirate smear. (C) The bone marrow biopsy (H&E, ×100) demonstrates hypercellular marrow for age (90% cellularity). (D) Approximately 50% of the cellularity is composed of mast cells with oval nuclei, and hypogranulated cytoplasm (H&E, ×400). Blast elements and other marrow elements are scattered throughout. (E) CD117 immunostain (×400) highlights abundant mast cells. (F) Mast cell tryptase immunostain (×400). (G) CD34 immunostain (×400) highlights blast elements, comprising >20% of non-mast cell cellularity. (H) CD25 immunostain (×400) is positive in the neoplastic mast cells.
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