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Detection of monosomy 7 in interphase cells of patients with myeloid disorders
Author(s) -
Kolluri Rukmini V.,
Manuelidis Laura,
Sait Sheila,
Cremer Thomas,
Gezer Sefer,
Raza Azra
Publication year - 1990
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830330208
Subject(s) - interphase , monosomy , myeloid leukemia , biology , cytogenetics , myeloid , chromosome 7 (human) , karyotype , in situ hybridization , microbiology and biotechnology , chromosome , myelodysplastic syndromes , pathology , bone marrow , cancer research , genetics , immunology , medicine , gene , gene expression
Abstract Six patients, five with acute myeloid leukemia (AML) and one with a myelodysplastic syndrome (MDS), were found to have monosomy 7 by conventional cytogenetics at diagnosis. Repetitive DNA sequences from the heterochromatic region of human chromosomes 1 and 7 were used as probes for in situ hybridization experiments on interphase cells of these patients. A double hybridization protocol was used to reveal the particular chromosomes as distinct spots or clusters of signals within interphase nuclei. The chromosome 1 sequence served as an internal control. Simultaneous detection of the sequences showed the presence of two normal number 1 chromosomes and a missing 7 chromosome from individual cells. While cytogenetic preparations showed only −7 metaphases in 3 AML and 1 MDS patients, in situ hybridization of interphase cells showed many normal cells as well as the presence of ‐7 in fully mature granulocytes. One AML patient studied in remission showed only normal metaphases yet had 9% interphase cells with a missing 7 and relapsed within 3 months. We conclude that examination of interphase cells by in situ hybridization provides clinically useful data since every cell including mature granulocytes can be examined, the lineage of a cell can be determined, and efficacy of differentiation therapy can be evaluated.