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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Mini Review +13,+13 or tetrasomy 13 Catherine Roche-Lestienne Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre - CHRU de Lille, France Published in Atlas Database: September 2006 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/Tetra13ID1260.html DOI: 10.4267/2042/38386 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2007 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity GTG- banded (left) and RHG-banded (right) metaphases on blood cells showing the isolated tetrasomy 13. In the present case, the specific 13ps+ polymorphism of one of the chromosomes 13 revealed that tetrasomy resulted in the triplication of the same parental chromosome 13 rather than a double-duplication mechanism. responses to intensive chemotherapy in older patients (under 60 year of age) are lower than with younger patients, and all described cases of isolated tetrasomy 13 occurred in elderly subjects. Clinics and pathology Disease Acute myeloid leukaemia, poorly differenciated (AMLM0). Genetics Epidemiology Note: Two candidate genes mapped on chromosome 13 whose deregulated function might contribute to the development of transformation of undifferentiated myeloid cells are FLT1 and Rb1. However, their involvement in acute leukemia with trisomy 13 / tetrasomy 13 have to be determined, and the mechanism whereby the increased gene dose alone or in association with other additional mutation(s) confers neoplastic potential of undifferentiated phenotype is unknown. Only 4 cases of primary acquired isolated tetrasomy have been described in patients with undifferentiated acute myeloid leukemia. Prognosis The possibility that isolated tetrasomy 13 may represent an independent poor prognostic factor could be suggested by the poor outcome under therapy in our patients and those reported previously. However, Atlas Genet Cytogenet Oncol Haematol. 2007;11(1) 38 +13,+13 or tetrasomy 13 Roche-Lestienne C Sreekantaiah C, Baer MR, Morgan S, Isaacs JD, Miller KB, Sandberg AA. Trisomy/tetrasomy 13 in seven cases of acute leukemia. Leukemia 1990;4:781-795. Cytogenetics Note: Tetrasomy 13 can occur in different cases of acute leukemia with trisomy 13 as the primary cytogenetic abnormality, or can be associated with additional abnormalities following transformation. McGrattan P, Alexander HD, Humphreys MW, Kettle PJ. Tetrasomy 13 as the sole cytogenetic abnormality in acute myeloid leukemia M1 without maturation. Cancer Genet Cytogenet 2002;135:192-195. Roche-Lestienne C, Soenen V, Richebourg S, Geffroy S, Laï JL, Andrieux J. Isolated tetrasomy 13: a fifth case report of a rare chromosome abnormality associated with poorly differentiated acute myeloid leukemia. Cancer Genet. Cytogenet 2006;168:181-182. References Döhner H, Arthur DC, Ball ED, Sobol RE, Davey FR, Lawrence D, Gordon L, Patil SR, Surana RB, Testa JR, Verma RS, Schiffer CA, Wurster-Hill DH, Bloomfield CD. Trisomy 13: a new recurring chromosome abnormality in acute leukemia. Blood 1990;76:1614-1621. Atlas Genet Cytogenet Oncol Haematol. 2007;11(1) This article should be referenced as such: Roche-Lestienne C. +13,+13 or tetrasomy 13. Atlas Genet Cytogenet Oncol Haematol.2007;11(1):38-39. 39