PMID- 32746551 OWN - NLM STAT- MEDLINE DCOM- 20200917 LR - 20220531 IS - 0529-5807 (Print) IS - 0529-5807 (Linking) VI - 49 IP - 8 DP - 2020 Aug 8 TI - [Ancillary values of fluorescence in situ hybridization with different gene combination in diagnosis of malignant melanoma]. PG - 827-833 LID - 10.3760/cma.j.issn.cn112151-20200601-00435 [doi] AB - Objective: To investigate the clinical value of the first multicolor fluorescence in situ hybridization (FISH) assay on multiple genes, and combined with 9p21 and 8q24 evaluation in the differential diagnosis of melanoma. Methods: Fifty-six melanomas and 36 benign melanocytic nevi diagnosed in Fudan University Shanghai Cancer Center from 2017 to 2019 were included. Each specimen was examined by first multicolor FISH assay targeting 6p25 (RREB1), 6q23 (MYB), 11q13 (CCND1) and CEP6, as well as 9p21 (CDKN2A) and 8q24 (MYC). The results of FISH assay in all cases were recorded according to Gerami's criteria. Basing on the sensitivity and specificity of the first FISH assay, the refinement of diagnosis by adding combined 9p21 and 8q24 probes was further evaluated, as well as their association with different clinicopathological features. Results: In 86 cases, the FISH signals were adequate for analysis. Of the 56 melanoma cases, 52 cases were adequate for analysis; 36 cases (69.2%) were positive in the first FISH assay. The most frequent chromosomal anomaly was gain of RREB1 (30/52, 57.7%), followed by gain of CCND1 (20/52, 38.5%), loss of MYB relative to CEP6 (18/52, 34.6%) and gain of RREB1 relative to CEP6 (17/52, 32.7%). The frequency of homozygous deletions in 9p21 was 15.4% (8/52) and gain of 8q24 was 36.5% (19/52). Among the 36 melanocytic nevi cases, FISH results could be accurately evaluated in 34 cases, and none showed a positive result in the first FISH assay or 9p21 and 8q24 FISH analysis. Compared with the first FISH assay, the sensitivity of combination with 9p21 and 8q24 FISH analysis increased from 69.2% to 76.9% (40/52) and the specificity remained 100.0%. Statistical data showed that the rates of FISH positivity in patients with acral-lentiginious melanoma and nodual melanoma subtypes were higher than that in patients with superficial spreading melanoma and lentigo maligna melanoma subtypes, and patients with Breslow thickness>2.0 mm had higher positive FISH frequency than patients with Breslow thickness 2.0 mm, or acral-lentiginious melanoma and nodual melanoma subtypes tend to have higher FISH positivity. There remains a need to further explore the ancillary value of FISH analysis in diagnosis of ambiguous lesions. FAU - Ren, M AU - Ren M AD - Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. FAU - Bai, Q M AU - Bai QM AD - Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. FAU - Kong, Y Y AU - Kong YY AD - Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. FAU - Zhou, X Y AU - Zhou XY AD - Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. FAU - Chang, H AU - Chang H AD - Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. FAU - Cai, X AU - Cai X AD - Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. LA - chi GR - KW1618/Western Medicine Guidance Project of Shanghai Science and Technology Commission/ PT - Journal Article PL - China TA - Zhonghua Bing Li Xue Za Zhi JT - Zhonghua bing li xue za zhi = Chinese journal of pathology JID - 0005331 SB - IM MH - China MH - Diagnosis, Differential MH - Humans MH - In Situ Hybridization, Fluorescence MH - Melanoma/*diagnosis/*genetics MH - *Nevus, Pigmented MH - Skin Neoplasms/*diagnosis/*genetics OTO - NOTNLM OT - Diagnosis, differential OT - In situ hybridization, fluorescence OT - Melanoma OT - Nevus, pigmented EDAT- 2020/08/05 06:00 MHDA- 2020/09/18 06:00 CRDT- 2020/08/05 06:00 PHST- 2020/08/05 06:00 [entrez] PHST- 2020/08/05 06:00 [pubmed] PHST- 2020/09/18 06:00 [medline] AID - 10.3760/cma.j.issn.cn112151-20200601-00435 [doi] PST - ppublish SO - Zhonghua Bing Li Xue Za Zhi. 2020 Aug 8;49(8):827-833. doi: 10.3760/cma.j.issn.cn112151-20200601-00435.