Premium
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
Author(s) -
Mitchell Sarah G.,
Bunting Silvia T.,
Saxe Debra,
Olson Thomas,
Keller Frank G.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26282
Subject(s) - chronic myelomonocytic leukemia , medicine , systemic mastocytosis , proto oncogene proteins c kit , cancer research , germ cell tumors , point mutation , mutation , malignancy , bone marrow , germ cell , neuroblastoma ras viral oncogene homolog , leukemia , pathology , immunology , biology , gene , myelodysplastic syndromes , cancer , genetics , stem cell factor , haematopoiesis , chemotherapy , stem cell , kras , colorectal cancer
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.