Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia.
Haematologica
; 89(8): ECR26, 2004 Aug.
Article
en En
| MEDLINE
| ID: mdl-15339695
ABSTRACT
Atypical chronic myeloid leukemia (aCML) is a rare leukemic disorder with no specific genetic lesion. Here we demonstrate clonal occurrences of tetrasomy for the long arm of chromosome 21 in a patient with aCML, and a thorough review of the literature provides evidence that this chromosomal anomaly is a so far not recognised recurrent finding in aCML. Further, the timely association of the occurrence of the tetrasomy 21q with acceleration of the leukemia suggests a role for chromosome 21 in leukemic disease progression. The chromosome 21 gene most strongly implicated in both normal and abnormal hematopoiesis is RUNX1. Also, RUNX1 haploinsufficiency due to RUNX1 point mutations characterises the familial platelet disorder with propensity to develop leukemia, and thromboytopenia was a leading feature in the present case. Therefore, an extensive molecular analysis of RUNX1 was performed. However, these analyses did not reveal a mutation, and the results support a gene dosage effect for RUNX1 in myeloid disease similar to observations in lymphoid disease. Patients with aCML and a tetrasomy 21 may form a karyotypically and phenotypically defined subgroup of aCML.
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Bases de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 21
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Leucemia Mielógena Crónica BCR-ABL Positiva
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Subunidad alfa 2 del Factor de Unión al Sitio Principal
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Aneuploidia
Límite:
Humans
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Male
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Middle aged
Idioma:
En
Revista:
Haematologica
Año:
2004
Tipo del documento:
Article
País de afiliación:
Suiza