التفاصيل البيبلوغرافية
| العنوان: |
Myeloid malignancies with translocation t(4;12)(q11-13; p13): molecular landscape, clonal hierarchy and clinical outcomes. |
| المؤلفون: |
Parinet, Vincent, Chapiro, Elise, Bidet, Audrey, Gaillard, Baptiste, Maarek, Odile, Simon, Laurence, Lefebvre, Christine, Defasque, Sabine, Mozziconacci, Marie-Joelle, Quinquenel, Anne, Decamp, Matthieu, Lifermann, François, Ali-Ammar, Nadia, Maillon, Agathe, Baron, Marine, Martin, Mélanie, Struski, Stéphanie, Penther, Dominique, Micol, Jean-Baptiste, Auger, Nathalie |
| المصدر: |
Journal of Cellular & Molecular Medicine; Oct2021, Vol. 25 Issue 20, p9557-9566, 10p |
| مصطلحات موضوعية: |
TREATMENT effectiveness, DYSPLASIA, ACUTE myeloid leukemia, SURVIVAL rate, MYELODYSPLASTIC syndromes, FLUORESCENCE in situ hybridization |
| مستخلص: |
Translocation t(4;12)(q11-13; p13) is a recurrent but very rare chromosomal aberration in acute myeloid leukaemia (AML) resulting in the non-constant expression of a CHIC2/ETV6 fusion transcript. We report clinico-biological features, molecular characteristics and outcomes of 21 cases of t(4;12) including 19 AML and two myelodysplastic syndromes (MDS). Median age at the time of t(4;12) was 78 years (range, 56-88). Multilineage dysplasia was described in 10 of 19 (53%) AML cases and CD7 and/or CD56 expression in 90%. FISH analyses identified ETV6 and CHIC2 region rearrangements in respectively 18 of 18 and 15 of 17 studied cases. The t(4;12) was the sole cytogenetic abnormality in 48% of cases. The most frequent associated mutated genes were ASXL1 (n = 8/16, 50%), IDH1/2 (n = 7/16, 44%), SRSF2 (n = 5/16, 31%) and RUNX1 (n = 4/16, 25%). Interestingly, concurrent FISH and molecular analyses showed that t(4;12) can be, but not always, a founding oncogenic event. Median OS was 7.8 months for the entire cohort. In the 16 of 21 patients (76%) who received antitumoral treatment, overall response and first complete remission rates were 37% and 31%, respectively. Median progression-free survival in responders was 13.7 months. Finally, t(4;12) cases harboured many characteristics of AML with myelodysplasia-related changes (multilineage dysplasia, MDS-related cytogenetic abnormalities, frequent ASXL1 mutations) and a poor prognosis. [ABSTRACT FROM AUTHOR] |
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