Acute megakaryocytic leukaemia with acquired polysomy 21 and translocation t(1;21)

• Published in: Annales de génétique Vol. 43; no. 2; pp. 99 - 104
• Main Authors: Paulien, Sylvie, Busson-Le Coniat, Maryvonne, Berger, Roland
• Format: Journal Article
• Language: English
• Published: Paris Elsevier SAS 01.04.2000; Société d'édition de l'association d'enseignement médical des hôpitaux de Paris
• Subjects: acute megakaryocytic leukaemia; Biological and medical sciences; Bone Marrow - pathology; Bone Marrow - ultrastructure; Chromosome Aberrations - genetics; Chromosome Banding; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 21 - genetics; Cytogenetic Analysis; Down Syndrome; FISH; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence - methods; Infant; Karyotyping; Leukemia, Megakaryoblastic, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; t(1;21); Translocation, Genetic - genetics; trisomy 21; FISH; acute megakaryocytic leukaemia; trisomy 21; t(1;21); Chromosomal aberration; Human; Molecular hybridization; Trisomy; Pathophysiology; Acute; In situ; Chromosome G21; Fluorescence; Aneuploidy; Exploration; Malignant hemopathy; Case study; Myeloproliferative syndrome; Megakaryocytic leukemia; Abnormal chromosome A1; Supernumerary chromosome; Abnormal chromosome; Genetics; Abnormal chromosome G21; Molecular biology; Child; Chromosome translocation
• ISSN: 0003-3995
• DOI: 10.1016/S0003-3995(00)01019-4

Cytogenetic study of a young child with acute megakaryocytic leukaemia (AML-M7) has shown a karyotype with 49–50 chromosomes with one and two acquired extra chromosomes 21. Fluorescence in situ hybridization detected a minor clone with translocation t(1;21) and loss of a part of chromosome band 1p36. Trisomy and polysomy 21 are not uncommon in AML-M7. A more systematic search for chromosome 21 rearrangements in AML-M7 using FISH techniques is proposed.