Journal Article

Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique

Tigaud, I, Poppe, B, Lessard, M, Mozziconacci, M-J, Sainty, D, Bastard, C, Birnbaum, D, Struski, S, Akker, J VanDen, Lippert, E, Nguyen-Khac, F, Speleman, F, Maarek, O, Luquet, I, Gervais, C, Mugneret, F, Herens, C, Flandrin, G, Helias, C, Baranger, L, Penther, D, Talmant, P, Eischen, A, Barin, C, Nadal, N, Murati, A

2008

Overview

Thirty cases of acute myeloid leukaemia (AML) with MYST histone acetyltransferase 3 (MYST3) rearrangement were collected in a retrospective study from 14 centres in France and Belgium. The mean age at diagnosis was 59.4 years and 67% of the patients were females. Most cases (77%) were secondary to solid cancer (57%), haematological malignancy (35%) or both (8%), and appeared 25 months after the primary disease. Clinically, cutaneous localization and disseminated intravascular coagulation were present in 30 and 40% of the cases, respectively. AMLs were myelomonocytic (7%) or monocytic (93%), with erythrophagocytosis (75%) and cytoplasmic vacuoles (75%). Immunophenotype showed no particularity compared with monocytic leukaemia without MYST3 abnormality. Twenty-eight cases carried t(8;16)(p11;p13) with MYST3-CREBBP fusion, one case carried a variant t(8;22)(p11;q13) and one case carried a t(8;19)(p11;q13). Type I ( MYST3 exon 16- CREBBP exon 3) was the most frequent MYST3-CREBBP fusion transcript (65%). MYST3 rearrangement was associated with a poor prognosis, as 50% of patients deceased during the first 10 months. All those particular clinical, cytologic, cytogenetic, molecular and prognostic characteristics of AML with MYST3 rearrangement may have allowed an individualization into the World Health Organization classification.

• Publisher: Nature Publishing Group UK,Nature Publishing,Nature Publishing Group
• Subject: Acute myeloid leukemia / Adult / Aged / Aged, 80 and over / Base Sequence / Biological and medical sciences / Bone marrow / Cancer Research / Cellular biology / Chromosomes, Human, Pair 8 / Coagulation / Critical Care Medicine / Cytogenetics / Disseminated intravascular coagulation / DNA Primers / Female / Gene mutations / Gene Rearrangement / Genetic aspects / Genetics & genetic processes / Génétique & processus génétiques / Health aspects / Hematologic and hematopoietic diseases / Hematology / Histone acetyltransferase / Histone Acetyltransferases - genetics / Humans / Immunophenotyping / In Situ Hybridization, Fluorescence / Intensive / Internal Medicine / Karyotyping / Leukemia / Leukemia, Myeloid, Acute - genetics / Leukemia, Myeloid, Acute - immunology / Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis / Life sciences / Localization / Male / Malignancy / Medical sciences / Medicine / Medicine & Public Health / Middle Aged / Monocytes / Oncology / original-article / Patients / Prognosis / Proteins / Reverse Transcriptase Polymerase Chain Reaction / Sciences du vivant / Transcription / Vacuoles