Case Report

ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial

Table 1

WHO-defined myeloid neoplasm with germline predisposition.

Myeloid neoplasm with germline predisposition without preexisting disorder or organ dysfunction
(i) CEBPA mutation
(ii) DDX41 mutation

Myeloid neoplasm with germline predisposition and preexisting platelet disorders
(i) RUNX1 mutation
(ii) ANKRD26 mutation
(iii) ETV6 mutation

Myeloid neoplasm with germline predisposition and other organ dysfunction
(i) GATA2 mutations
(ii) Telomere biology disorders
(iii) Bone marrow failure syndrome (Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Swachman–Diamond syndrome, and Blackan-Diamond syndrome)