Familial partial monosomy 7 and myelodysplasiadifferent parental origin of the monosomy 7 suggests action of a mutator gene

Antonella Minelli, Emanuela Maserati, Giovanni Giudici, Sabrina Tosi, Carla Olivieri, Livia Bonvini, Paola De Filippi, Andrea Biondi, Francesco Lo Curto, Francesco Pasquali, Cesare Danesino

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)147-151
Number of pages5
JournalCancer Genetics and Cytogenetics
Volume124
Issue number2
DOIs
Publication statusPublished - Jan 15 2001

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Fingerprint Dive into the research topics of 'Familial partial monosomy 7 and myelodysplasiadifferent parental origin of the monosomy 7 suggests action of a mutator gene'. Together they form a unique fingerprint.

Cite this