Abstract
Abstract Over 70 MLL partner genes have been reported so far. MLL gene (or 11q23) translocation is occurring in 7-10% of B acute lymphoblastic leukemias and AF4 being the most frequent partner gene. The prognostic is usually bad, specially for AF4 partner. A rare partner gene, mastermind like 2 (MAML2) gene has been reported in 4 cases of myeloid neoplasms after chemotherapy so far: 2 AML and 2 MDS. Here we report a case with MLL - MAML2 discovered by NGS analysis in front of an inv11 (q21q23) present in a 47 years old female previously treated for a sarcoma in 2014. It is, to our knowledge, the first case of B acute lymphoblastic leukemia (CD79a, CD22, CD19, CD45, CD10-) with this fusion gene. At the molecular level, the rearrangement consists in the fusion of exons 7 and 2 of the MLL and MAML2 genes respectively. We will discuss the biological, clinical, physiological and therapeutic consequences of this rare event. Its prognostic impact is unknown as the reported cases are too rare. Citation Format: Fabrice Usseglio, Nathalie Beaufils, Régis Costello, Jean Gabert. First case of B LAL with MLL - MAML2 rearrangement. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 3985.
Published Version
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