The study was aimed to investigate the application value of interphase fluorescence in situ hybridization (FISH) on cell smears in hematological diseases. Both interphase FISH on peripheral blood smears and bone marrow smears treated by methanol/acetic acid, and routine interphase FISH of bone marrow cells dropped on slides were done at the same time, in order to detect Ph chromosome by BCR/ABL dual color, dual fusion probe in 20 patients with chronic myelogenous leukemia or acute lymphoblastic leukemia which had been proven to display Ph chromosome positive. The results indicated that as compared with routine interphase FISH, the interphase FISH on cell smears could also offer reliable result. It is concluded that interphase FISH on cell smears is a kind of reliable and time-saving technique, which is also suitable for retrospective research and worthy to further apply in clinic.
Adult ; Aged ; Cytogenetic Analysis ; methods ; Female ; Hematologic Diseases ; diagnosis ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Interphase ; genetics ; Male ; Middle Aged ; Young Adult

BACKGROUND: Loss of sex chromosomes in bone marrow is observed both in elderly persons as an aging phenomenon and in patients with hematologic malignancies. The purpose of this study was to evaluate the incidence and clinical significance of sex chromosome losses in patients with hematologic diseases, comparing the characteristics between patients with sole and secondary sex chromosome losses in conjunction with other chromosomal abnormalities. METHODS: Study group included 868 patients with hematologic diseases between June 1998 and May 2006. The cells of bone marrow aspirates were processed using unstimulated culture methods such as direct, 24-hr and/or 48-hr culture. Sex chromosome losses were included in the karyotype, when X or Y chromosome loss is observed in more than 2 metaphase cells. RESULTS: The sex chromosome losses in bone marrow were found in 5.1% of the patients and 1.8% showed sex chromosome losses as a sole chromosomal abnormality. According to the disease categories, the incidences of sex chromosome losses were as follows: acute myelogenous leukemia (AML), 9.5%; acute lymphoblastic leukemia, 0%; myelodysplastic syndrome, 6.0%; chronic myelogenous leukemia 3.6%; myeloproliferative disorders, 1.3%; multiple myeloma (MM), 13.0%; chronic lymphocytic leukemia, 0%; malignant lymphoma, 3.8%; and benign hematologic diseases 2.2%. The patients with sex chromosome losses as a sole chromosomal abnormality were all male and median age was higher than that of patients with sex chromosome losses as a secondary abnormality (64 vs. 58 yr, P=0.02). The proportion of metaphase cells with sex chromosome losses was significantly lower in patients with sex chromosome losses as a sole chromosomal abnormality (40% vs. 100%, P<0.0001). The changes of sex chromosome loss were correlated with the disease status of AML and MM. CONCLUSIONS: These results suggest that secondary sex chromosome losses in conjunction with other chromosomal abnormalities seem to be one of the clonal abnormalities, whereas sex chromosome losses as a sole change seem to be an aging phenomenon, but further studies are needed.
Adult ; Aged ; Bone Marrow Cells/*cytology ; *Chromosomes, Human, X ; *Chromosomes, Human, Y ; Female ; Hematologic Diseases/*diagnosis/*genetics ; Humans ; Male ; Middle Aged ; *Sex Chromosome Aberrations