Human pathology · 2025
EWSR1-and FUS-rearranged acute leukemias: Clinicopathological and genomic characterization.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Nguyen Van Tuong, Zahid Mohammad Faizan, Han Lina, Botten Giovanni A, Slone Tamra, Goldman Stanton, Ghisoli Maurizio, Fuda Franklin, Koduru Prasad, Kumar Kirthi, Weinberg Olga K, Cantu Miguel D, Xu Jing, Chen Weina
Аннотация
BACKGROUND: EWSR1::FEV and FUS::FEV fusions, belonging to the FET-ETS family gene fusions, are extremely rare in acute leukemias. Our study aims to characterize the clinicopathologic and genomic profiles of this rare entity.
METHODS: Clinical, morphologic, immunophenotypic, cytogenetic, and genomic features were analyzed in three patients with leukemia harboring these rare fusions.
RESULTS: These leukemias were characterized by a female predominance with variable age of onset (a median age of 27 years), heterogenous leukemia phenotypes [acute myeloid leukemia/AML with EWSR1::FEV (n = 1) and mixed phenotype acute leukemia/MPAL (n = 2) with B/myeloid (EWSR1::FEV) and T/myeloid (FUS::FEV) phenotype], additional cytogenetic abnormalities (3/3) in addition to cryptic (2) or non-cryptic (1) fusion related chromosomal translocations, and co-occurring gene mutations in signaling pathway (PTPN11, 2/3) and cohesin complex (STAG2, 1/3). The prognosis of EWSR1::FEV and FUS::FEV leukemias is largely unknown; all three patients were alive with a median follow-up of 46 months, but one patient relapsed.
CONCLUSION: This is the first case series study, including the first case description of FUS::FEV leukemia, to characterize clinicopathologic and genomic features of leukemias with EWSR1::FEV and FUS::FEV and provide insights into the leukemogenesis of this rare entity. Furthermore, we recommend inclusion of FET-ETS fusions in future acute leukemia classification schemes.
METHODS: Clinical, morphologic, immunophenotypic, cytogenetic, and genomic features were analyzed in three patients with leukemia harboring these rare fusions.
RESULTS: These leukemias were characterized by a female predominance with variable age of onset (a median age of 27 years), heterogenous leukemia phenotypes [acute myeloid leukemia/AML with EWSR1::FEV (n = 1) and mixed phenotype acute leukemia/MPAL (n = 2) with B/myeloid (EWSR1::FEV) and T/myeloid (FUS::FEV) phenotype], additional cytogenetic abnormalities (3/3) in addition to cryptic (2) or non-cryptic (1) fusion related chromosomal translocations, and co-occurring gene mutations in signaling pathway (PTPN11, 2/3) and cohesin complex (STAG2, 1/3). The prognosis of EWSR1::FEV and FUS::FEV leukemias is largely unknown; all three patients were alive with a median follow-up of 46 months, but one patient relapsed.
CONCLUSION: This is the first case series study, including the first case description of FUS::FEV leukemia, to characterize clinicopathologic and genomic features of leukemias with EWSR1::FEV and FUS::FEV and provide insights into the leukemogenesis of this rare entity. Furthermore, we recommend inclusion of FET-ETS fusions in future acute leukemia classification schemes.