PMID- 7758994 OWN - NLM STAT- MEDLINE DCOM- 19950628 LR - 20061115 IS - 0390-6078 (Print) IS - 0390-6078 (Linking) VI - 80 IP - 1 DP - 1995 Jan-Feb TI - Clonality study by fluorescence in situ hybridization of a patient with refractory anemia with ringed sideroblasts and monosomy 7. PG - 54-7 AB - 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. FAU - Fugazza, G AU - Fugazza G AD - Dipartimento di Medicina Interna, Universita di Genova, Italy. FAU - Lerza, R AU - Lerza R FAU - Bruzzone, R AU - Bruzzone R FAU - Sessarego, M AU - Sessarego M LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Italy TA - Haematologica JT - Haematologica JID - 0417435 SB - IM CIN - Haematologica. 1995 Mar-Apr;80(2):95-7. PMID: 7503878 MH - Anemia, Sideroblastic/*genetics MH - *Chromosomes, Human, Pair 7 MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Male MH - Middle Aged MH - *Monosomy EDAT- 1995/01/01 00:00 MHDA- 1995/01/01 00:01 CRDT- 1995/01/01 00:00 PHST- 1995/01/01 00:00 [pubmed] PHST- 1995/01/01 00:01 [medline] PHST- 1995/01/01 00:00 [entrez] PST - ppublish SO - Haematologica. 1995 Jan-Feb;80(1):54-7.