PMID- 8536235 OWN - NLM STAT- MEDLINE DCOM- 19960208 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 85 IP - 1 DP - 1995 Nov TI - Single-cell trisomy in hematologic malignancy. Random change or tip of the iceberg? PG - 37-42 AB - Finding a clone in the bone marrow of a patient with a hematologic disorder is important to confirm the neoplastic nature of the disease and may be indicative of prognosis. Since cytogenetic analysis detects only actively dividing clones, the presence of a single abnormal cell among 20 cells analyzed raises doubts about its clonal nature. Fluorescence in situ hybridization (FISH) enables rapid detection of certain chromosomal abnormalities in metaphase and interphase cells, thus enabling detection of minor or inactive clones. Seven patients with hematologic malignancy each having random cell(s) were investigated thus: at diagnosis, with MDS and a cell with +8 (two cases) or +9 (one case) and with AML and a cell with +4 (one case), +7 (one case), or two cells with +9, +22/ +10, +17, +17 (one case). One patient with ALL in remission had one cell with trisomy 4. One patient, a male aged 66 years with refractory anemia with ringed sideroblasts, was found to have a minor trisomy 8 clone in his diagnostic marrow. A follow-up marrow 42 months later showed no trisomy 8 cell among 62 metaphases analyzed, and the percentage of trisomic cells using FISH on interphase cells was within the control range. This patient has survived for more than 42 months requiring no treatment. Single-cell abnormalities in the other six cases proved to be random events. Thus it appears that single-cell abnormalities may not be clonal or at most indicate the presence of a minor clone well below the level of cytogenetic detection. The prognostic significance of such minor clones is at present unclear. FAU - Kasprzyk, A AU - Kasprzyk A AD - Department of Haematology, Royal Free Hospital School of Medicine, London, UK. FAU - Mehta, A B AU - Mehta AB FAU - Secker-Walker, L M AU - Secker-Walker LM LA - eng PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 SB - IM CIN - Cancer Genet Cytogenet. 1996 Aug;90(1):91-2. PMID: 8780756 MH - Adult MH - Aged MH - Aged, 80 and over MH - Bone Marrow/pathology/ultrastructure MH - Child MH - Chromosome Banding MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Myelodysplastic Syndromes/*genetics MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics MH - Prognosis MH - *Trisomy EDAT- 1995/11/01 00:00 MHDA- 1995/11/01 00:01 CRDT- 1995/11/01 00:00 PHST- 1995/11/01 00:00 [pubmed] PHST- 1995/11/01 00:01 [medline] PHST- 1995/11/01 00:00 [entrez] AID - 0165460895001158 [pii] AID - 10.1016/0165-4608(95)00115-8 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 1995 Nov;85(1):37-42. doi: 10.1016/0165-4608(95)00115-8.