title: Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases.
abstract: The trisomy 8 found in malignancies may derive from a constitutional trisomy 8 mosaicism (CT8M), and in these cases the trisomy itself may be regarded as the first mutation in a multistep carcinogenetic process. To assess the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8, an informative sample of 14 patients was collected. The data ascertained included chromosome analyses of fibroblast cultures and of PHA-stimulated blood cultures in patients with normal blood differential count, as well as possible CT8M clinical signs. One patient showed trisomy 8 in all cell types analyzed and undoubtedly has a CT8M; a second patient consistently showed trisomy 8 in PHA-stimulated blood cultures when no immature myeloid cells were present in blood and should be considered as having CT8M; a third patient, with Philadelphia-positive chronic myelocytic leukemia, was more difficult to interpret, but the possibility that she had CT8M is likely. A few clinical signs of CT8M were also present in these three patients. Our data indicate that the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8 is approximately 15-20%.
authors.affiliation: Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell'Insubria, Via J.H. Dunant 5, I 21100 Varese, Italy. emanuela.maserati@uninsubria.it
authors.forename: Emanuela
authors.initials: E
authors.lastname: Maserati
authors.forename: Fiorenza
authors.initials: F
authors.lastname: Aprili
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Vinante
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Amendola
authors.forename: Adriana
authors.initials: A
authors.lastname: Zatterale
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Milone
authors.forename: Antonella
authors.initials: A
authors.lastname: Minelli
authors.forename: Franca
authors.initials: F
authors.lastname: Bernardi
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo Curto
authors.forename: Francesco
authors.initials: F
authors.lastname: Pasquali
mesh_terms: D000208:Acute Disease; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D007945:Leukemia, Lymphoid / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*