DataSheet_1_Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases.docx

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.

伴发造血系统肿瘤的肥大细胞白血病（Mast cell leukemia with associated hematologic neoplasm, MCL-AHN）是一类罕见且极具侵袭性的疾病，因病例匮乏而长期未得到充分研究。本文报告1例45岁男性患者，同时确诊肥大细胞白血病与急性髓系白血病。我们在本医疗中心另外检出4例MCL-AHN患者，并对所有可获取的肿瘤样本实施了全外显子组测序。本病例系列研究发现，其中2例患者携带一种全新且一致的NR2F6变异体。本病例系列及测序结果证实，对耐药性罕见肿瘤开展全面特征分析具有重要意义。