+13,+13 or tetrasomy 13

2006-09-01   Catherine Roche-Lestienne 

1.(1) : Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre - CHRU de Lille, France; (2) : Département dHématologie, Université Catholique de Lille, France; (3) : Laboratoire dHématologie A, Hôpital Calmette - CHRU de Lille, France

Clinics and Pathology

Disease

Acute myeloid leukaemia, poorly differenciated (AML-M0).

Epidemiology

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, 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.

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.

Bibliography

Pubmed IDLast YearTitleAuthors
16984821990Trisomy 13: a new recurring chromosome abnormality in acute leukemia.Döhner H et al
121274062002Tetrasomy 13 as the sole cytogenetic abnormality in acute myeloid leukemia M1 without maturation.McGrattan P et al
168431142006Isolated tetrasomy 13: a fifth case report of a rare chromosome abnormality associated with poorly differentiated acute myeloid leukemia.Roche-Lestienne C et al
22328921990Trisomy/tetrasomy 13 in seven cases of acute leukemia.Sreekantaiah C et al

Summary

Atlas Image
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.

Citation

Catherine Roche-Lestienne

+13,+13 or tetrasomy 13

Atlas Genet Cytogenet Oncol Haematol. 2006-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1260/+13-+13-or-tetrasomy-13

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