We report a case of Ph-positive chronic myelocytic leukemia in blastic phase in an 11-year-old boy with Down syndrome. Monosomy 7 was the only additional chromosomal anomaly in the blastic clone. Fluorescence in situ hybridization analysis on interphase nuclei with a centromeric probe specific to chromosome 7 proved to be efficient in disease monitoring; and showed, together with the results of chromosome analysis on metaphases, that B- lymphocytes at the origin of an EBV-established line were not part of the leukemic clone. The study of DNA polymorphisms showed that the origin of the constitutional trisomy 21 was a maternal anaphase I nondisjunction, that the chromosome 7 lost in the blastic marrow clone was the maternal one, and led us to postulate that the mother's chromosomes are prone to impairment of normal disjunction. The study of allelic losses of chromosome 7 loci proved to be a further possibility for disease monitoring.
Ph-positive CML in blastic phase with monosomy 7 in a Down syndrome patient: Monitoring by interphase cytogenetics and demonstration of maternal allelic loss / Seghezzi, L.; Dellavecchia, C.; Maserati, E.; Minelli, A.; Carra, A.; Locatelli, F.; Argusti, A.; Lo Curto, F.; Danesino, C.; Pasquali, F.. - In: CANCER GENETICS AND CYTOGENETICS. - ISSN 0165-4608. - 99:1(1997), pp. 77-80. [10.1016/S0165-4608(96)00431-1]
Ph-positive CML in blastic phase with monosomy 7 in a Down syndrome patient: Monitoring by interphase cytogenetics and demonstration of maternal allelic loss
Locatelli F.;
1997
Abstract
We report a case of Ph-positive chronic myelocytic leukemia in blastic phase in an 11-year-old boy with Down syndrome. Monosomy 7 was the only additional chromosomal anomaly in the blastic clone. Fluorescence in situ hybridization analysis on interphase nuclei with a centromeric probe specific to chromosome 7 proved to be efficient in disease monitoring; and showed, together with the results of chromosome analysis on metaphases, that B- lymphocytes at the origin of an EBV-established line were not part of the leukemic clone. The study of DNA polymorphisms showed that the origin of the constitutional trisomy 21 was a maternal anaphase I nondisjunction, that the chromosome 7 lost in the blastic marrow clone was the maternal one, and led us to postulate that the mother's chromosomes are prone to impairment of normal disjunction. The study of allelic losses of chromosome 7 loci proved to be a further possibility for disease monitoring.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
