Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects

Emanuela Maserati, Antonella Minelli, Giuseppe Menna, Maria Paola Cecchini, Maria Ester Bernardo, Gabriele Rossi, Paola De Filippi, Francesco Lo Curto, Cesare Danesino, Franco Locatelli, Francesco Pasquali

Research output: Contribution to journalArticlepeer-review


A family is reported, in which two sisters presented with myelodysplastic syndrome (MDS), namely refractory anemia with excess of blasts in transformation (RAEB-t), and refractory anemia (RA). Bone marrow chromosome changes were present in both: trisomy and tetrasomy 8 (with a pericentric inversion of one chromosome 8) in the older sister, and monosomy 7 (with clones with additional trisomies 19 and 21) in the younger one. Molecular data were obtained on the parental chromosome involved in these numerical anomalies, which proved to be of paternal origin in these cases. The observations of this family, and a review of familial cases of MDS/acute myeloid leukemia (AML), led us to consider that they may be divided into two groups: those which arise on the basis of a Mendelian predisposing disorder exerting a mutator effect, often with the acquisition of monosomy 7, and those in which no specific Mendelian predisposing disease is recognized, as the familial monosomy 7 cases and the one reported here. We postulate that in these families an inherited mutator effect is present and that it causes a karyotype instability, which leads to MDS/AML, often through the acquisition of monosomy 7 and trisomy 8.

Original languageEnglish
Pages (from-to)155-158
Number of pages4
JournalCancer Genetics and Cytogenetics
Issue number2
Publication statusPublished - Jan 15 2004

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology


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