Article
LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.
Haematologica - 1 Aug 2024
Wintering Astrid, Hecht Anna, Meyer Julia, Wong Eric B, Hübner Juwita, Abelson Sydney, Feldman Kira, Kennedy Vanessa E, Peretz Cheryl A C, French Deborah L, Maguire Jean Ann, Jobaliya Chintan, Vasquez Marta Rojas, Desai Sunil, Dulman Robin, Nemecek Eneida, Haines Hilary, Hammad Mahmoud, El Haddad Alaa, Kogan Scott C, Abdullaev Zied, Chehab Farid F, Tasian Sarah K, Smith Catherine C, Loh Mignon L, Stieglitz Elliot
Abstract excerpt
Mutations in five canonical Ras pathway genes (NF1, NRAS, KRAS, PTPN11 and CBL) are detected in nearly 90% of patients with juvenile myelomonocytic leukemia (JMML), a frequently fatal malignant neoplasm of early childhood. In this report, we describe seven patients diagnosed with SH2B3-mutated JMML, including five patients who were found to have initiating, loss-of-function mutations in the gene. SH2B3 encodes...
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