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

Détails

ID Serval
serval:BIB_F289A97F2B8F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
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
Périodique
Haematologica
Auteur(s)
Escher  R., Muhlematter  D., Scott  H. S., Jotterand  M., Tobler  A.
ISSN
1592-8721 (Electronic)
Statut éditorial
Publié
Date de publication
08/2004
Volume
89
Numéro
8
Pages
ECR26
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Résumé
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.
Mots-clé
*Aneuploidy Bone Marrow/pathology *Chromosomes, Human, Pair 21 Core Binding Factor Alpha 2 Subunit/*genetics Gene Dosage Humans Leukemia, Myeloid, Chronic/blood/*genetics/pathology Male Middle Aged
Pubmed
Création de la notice
25/01/2008 15:18
Dernière modification de la notice
03/03/2018 22:40
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