A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia

作者：Mitchell Sarah G; Bunting Silvia T; Saxe Debra; Olson Thomas; Keller Frank G^*

来源：Pediatric Blood and Cancer, 2017, 64(4): UNSP e26282.

DOI：10.1002/pbc.26282

• c-KIT D816H mutation
• chronic myelomonocytic leukemia
• germ cell tumor
• isochromosome 12p
• systemic mastocytosis

An activating point mutation of the c-KIT tyrosine kinase receptor gene, D816H, has been described in germ cell tumors (GCTs). We report an adolescent diagnosed with an ovarian mixed GCT and systemic mastocytosis with chronic myelomonocytic leukemia (SM-CMML). The teratoma and dysgerminoma differed by copy number aberrations via single nucleotide polymorphism (SNP) microarray, but were inclusive of the same c-KIT D816H point mutation (c.2446G>C) also identified in blood and bone marrow mast cells. These findings indicate not only a clonal origin of the GCT and hematologic malignancy, but also suggest a rare KIT mutation may be playing a fundamental role in malignancy development.

• 出版日期2017-4