Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases.
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%.
Maserati
Emanuela
E
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
Aprili
Fiorenza
F
Vinante
Fabrizio
F
Locatelli
Franco
F
Amendola
Giovanni
G
Zatterale
Adriana
A
Milone
Giuseppe
G
Minelli
Antonella
A
Bernardi
Franca
F
Lo Curto
Francesco
F
Pasquali
Francesco
F
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*