Clonality study by fluorescence in situ hybridization of a patient with refractory anemia with ringed sideroblasts and monosomy 7

• Published in: Haematologica (Roma) Vol. 80; no. 1; pp. 54 - 57
• Main Authors: Fugazza, G, Lerza, R, Bruzzone, R, Sessarego, M
• Format: Journal Article
• Language: English
• Published: Pavia Haematologica 01-01-1995
• Subjects: Anemia, Sideroblastic - genetics; Anemias. Hemoglobinopathies; Biological and medical sciences; Chromosomes, Human, Pair 7; Diseases of red blood cells; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; Male; Medical sciences; Middle Aged; Monosomy; Chromosomal aberration; Refractory anemia; Human; Molecular hybridization; Leukocyte; In situ; Fluorescence; Aneuploidy; Exploration; Hemopathy; Myelodysplastic syndrome; Blood; Case study; Cytogenetics; Abnormal chromosome; Genetics; Molecular biology; Abnormal C7 chromosome; Karyotype; Monosomy
• ISSN: 0390-6078; 1592-8721

Dipartimento di Medicina Interna, Universita di Genova, Italy.
Myelodysplastic syndromes (MDS) are stem cell diseases but it is still controversial whether chromosomal abnormalities occurring in these disorders affect a multipotent stem cell or a committed progenitor. We studied a case of refractory anemia with ringed sideroblasts (RARS) and monosomy 7 in 100% of examined metaphases. Using the fluorescence in situ hybridization (FISH) technique with a probe specific for the centromeric region of chromosome 7, we demonstrated that 15% of BM cells fixed in acetic acid/methanol exhibited a normal diploid karyotype. Applying the FISH technique on PB cells smeared onto a slide, we observed that lymphocytes maintain two chromosomes 7, whereas other leukocytes exhibited monosomy 7. Our study confirms that chromosomal abnormalities found in MDS can occur in cells capable of differentiation along granulocytic and monocytic lineages, but not along the lymphocytic lineage.