Functional characterization of a germline ETV6 variant associated with inherited thrombocytopenia, acute lymphoblastic leukemia, and salivary gland carcinoma in childhood.

We present a patient with short stature who was initially diagnosed with chronic immune thrombocytopenia. Subsequently, the patient developed acute lymphoblastic leukemia, followed by mammary analog secretory carcinoma. Sequencing analysis identified an ETV6 c.641C > T (p.Pro214Leu) germline variant. The variant protein exhibited attenuated nuclear localization, increased protein degradation, and reduced transcription repression function. Our findings suggest that the ETV6 gene should be sequenced in patients with inherited thrombocytopenia and malignancy, and emphasize the importance of careful follow-up to identify secondary cancer in patients with pathogenic ETV6 variants.
PMID: 32367453 [PubMed - as supplied by publisher]

Source: International Journal of Hematology - May 3, 2020 Category: Hematology Authors: Yoshino H, Nishiyama Y, Kamma H, Chiba T, Fujiwara M, Karaho T, Kogashiwa Y, Morio T, Yan K, Bessho F, Takagi M Tags: Int J Hematol Source Type: research