Figure 1. Mutational analysis of 32 cases of myeloid neoplasm with isolated i(17q) (red, mutation; gray, wild-type; white, not tested).
Genes are segregated based on the biologic functional categories on the left. The upper panels denote the case number, diagnostic categories per 2008 WHO classification and clonal cytogenetic abnormalities. Case #31 could not be sub-classified. Isochromosome (17q) was detected on a post-allogeneic stem cell transplant sample that showed relapsed AML. The pre-transplant cytogenetic studies were diploid, and molecular studies were unavailable. The patient also had a history of breast carcinoma treated with chemotherapy. Cases 7, 9 and 31 (highlighted in lavender) also underwent whole-exome sequencing. *represents a non-R882 DNMT3A mutation. aCML, atypical chronic myeloid leukemia; AML, acute myeloid leukemia; AML MRC, AML with myelodysplasia-related changes; CMML, chronic myelomonocytic leukemia; ET, Essential thrombocythemia; MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasm; MDS/MPN, myelodysplastic/myeloproliferative neoplasm; MDS/MPN-U, myelodysplastic/myeloproliferative neoplasm unclassifiable; MF, myelofibrosis; RAEB, refractory anemia with excess blasts; sAML, secondary AML; SCT, stem cell transplant.