Non-canonical FLT3 alterations reveal novel germline FLT3 variants leading to somatic gene rescue mutations.

Autor:	Gordon, Jaymeson, Bravo-Perez, Carlos, Guarnera, Luca, Unlu, Serhan, Kawashima, Naomi, Ahmed, Arooj, Haddad, Christopher, Kubota, Yasuo, Nautiyal, Ishani, Ullah, Fauzia, Dima, Danai, Williams, Nakisha D., Kewan, Tariq, Bahaj, Waled, Carraway, Hetty E., Yang, Chao-Yie, Gurnari, Carmelo, Visconte, Valeria, Maciejewski, Jaroslaw P.
Předmět:	SOMATIC mutation TRANSMEMBRANE domains GAIN-of-function mutations MYELOPROLIFERATIVE neoplasms MYELODYSPLASTIC syndromes
Zdroj:	Blood Cancer Journal; 7/30/2024, Vol. 14 Issue 1, p1-4, 4p
Abstrakt:	This article discusses the molecular landscape of FLT3 gene alterations in myeloid neoplasms (MNs), specifically acute myeloid leukemia (AML). FLT3 mutations, including internal tandem duplications (ITD) and mutations in the activation loop (AL), are common in AML and have been associated with poor prognosis. However, the presence and clinical implications of non-canonical FLT3 mutations (FLT3NC) have been less explored. The study analyzed a cohort of MN patients and found that FLT3NC alterations were more prevalent in non-AML MNs compared to AML. Additionally, the study identified three cases of germline FLT3NC, suggesting a potential role of hypomorphic germline FLT3 mutations in somatic gene rescue and leukemogenesis. The findings provide new insights into the complexity of FLT3 mutations in MNs. [Extracted from the article]
Databáze:	Complementary Index
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