Document Detail

Familial partial monosomy 7 and myelodysplasia: different parental origin of the monosomy 7 suggests action of a mutator gene.
MedLine Citation:
PMID:  11172908     Owner:  NLM     Status:  MEDLINE    
Two sisters are reported, both with a myelodysplastic syndrome (MDS) associated with partial monosomy 7. A trisomy 8 was also present in one of them, who later developed an acute myeloid leukemia (AML) of the M0 FAB-type and died, whereas the other died with no evolution into AML. Besides FISH studies, microsatellite analysis was performed on both sisters to gather information on the parental origin of the chromosome 7 involved in partial monosomy and of the extra chromosome 8. The chromosomes 7 involved were of different parental origin in the two sisters, thus confirming that familial monosomy 7 is not explained by a germ-line mutation of a putative tumor-suppressor gene. Similar results were obtained in two other families out of the 12 reported in the literature. Noteworthy is the association with a mendelian disease in 3 out of 12 monosomy 7 families, which suggest that a mutator gene, capable of inducing both karyotype instability and a mendelian disorder, might act to induce chromosome 7 anomalies in the marrow. We postulate that, in fact, an inherited mutation in any of a group of mutator genes causes familial monosomy 7 also in the absence of a recognized mendelian disease, and that marrow chromosome 7 anomalies, in turn, lead to MDS/AML.
A Minelli; E Maserati; G Giudici; S Tosi; C Olivieri; L Bonvini; P De Filippi; A Biondi; F Lo Curto; F Pasquali; C Danesino
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  124     ISSN:  0165-4608     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2001 Jan 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-03-22     Revised Date:  2009-04-02    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  147-51     Citation Subset:  IM    
Biologia Generale e Genetica Medica, Università di Pavia, C.P. 217, I 27100, Pavia, Italy.
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MeSH Terms
Anemia, Refractory / genetics
Bone Marrow Transplantation
Child, Preschool
Chromosomes, Human, Pair 7*
Myelodysplastic Syndromes / blood,  genetics*,  therapy*

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