PMID- 17227129 OWN - NLM STAT- MEDLINE DCOM- 20070209 LR - 20220331 IS - 1543-2165 (Electronic) IS - 0003-9985 (Linking) VI - 131 IP - 1 DP - 2007 Jan TI - The heterogeneous distribution of monosomy 3 in uveal melanomas: implications for prognostication based on fine-needle aspiration biopsies. PG - 91-6 AB - CONTEXT: The detection of monosomy 3 in uveal melanomas has repeatedly been associated with adverse outcome. Fine-needle aspiration biopsy is being used to detect monosomy 3 in these tumors, based on the assumption that this chromosomal abnormality is distributed homogeneously throughout the tumor. OBJECTIVE: To study the distribution of monosomy 3 in primary uveal melanoma by fluorescence in situ hybridization (FISH). DESIGN: We studied 50 enucleated eyes with uveal melanoma. In all 50 tumors we performed cytogenetic analysis and FISH using a DNA-specific probe for the centromere region of chromosome 3 on cultured tumor cells. In addition, the percentage of tumor cells with monosomy 3 was assessed by FISH on nuclei, isolated from paraffin-embedded tissue and compared to results of FISH on regular histology sections of the paraffin-embedded tissue. RESULTS: Combining karyotyping and FISH on cultured cells identified monosomy 3 in 19 (38%) of 50 tumors, whereas FISH on nuclei isolated from paraffin-embedded tissue showed 31 (62%) of 50 as having monosomy for chromosome 3. FISH analysis on paraffin sections showed tumor heterogeneity for copy number of chromosome 3 in at least 7 cases. CONCLUSIONS: FISH analysis on paraffin sections shows that heterogeneity of monosomy of chromosome 3 is a frequent phenomenon in uveal melanoma. FISH on nuclei isolated from paraffin-embedded tissue identifies a higher frequency of monosomy 3 than the traditional combination of karyotyping and FISH on cultured uveal melanoma cells. The practice of assigning patients to risk categories based on fine-needle aspiration biopsy samples from primary uveal melanoma may be subject to error based on the heterogeneous distribution of monosomy 3 in these tumors. FAU - Maat, Willem AU - Maat W AD - Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. FAU - Jordanova, Ekaterina S AU - Jordanova ES FAU - van Zelderen-Bhola, Shama L AU - van Zelderen-Bhola SL FAU - Barthen, Ed R AU - Barthen ER FAU - Wessels, Hans W AU - Wessels HW FAU - Schalij-Delfos, Nicoline E AU - Schalij-Delfos NE FAU - Jager, Martine J AU - Jager MJ LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Arch Pathol Lab Med JT - Archives of pathology & laboratory medicine JID - 7607091 RN - 0 (Biomarkers, Tumor) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Biomarkers, Tumor/*genetics MH - Biopsy, Fine-Needle MH - Cell Nucleus/genetics MH - Chromosome Aberrations MH - Chromosomes, Human, Pair 3/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Male MH - Melanoma/*genetics/pathology MH - Middle Aged MH - Monosomy/*genetics/pathology MH - Paraffin Embedding MH - Prognosis MH - Tumor Cells, Cultured MH - Uveal Neoplasms/*genetics/pathology EDAT- 2007/01/18 09:00 MHDA- 2007/02/10 09:00 CRDT- 2007/01/18 09:00 PHST- 2006/09/06 00:00 [accepted] PHST- 2007/01/18 09:00 [pubmed] PHST- 2007/02/10 09:00 [medline] PHST- 2007/01/18 09:00 [entrez] AID - OA6-0264 [pii] AID - 10.5858/2007-131-91-THDOMI [doi] PST - ppublish SO - Arch Pathol Lab Med. 2007 Jan;131(1):91-6. doi: 10.5858/2007-131-91-THDOMI.