TitleFluorescence in situ hybridisation as an ancillary tool in the diagnosis of acral melanoma: a review of 44 cases
AuthorsSu, Jing
Yu, Wenjuan
Liu, Jianying
Zheng, Jie
Huang, Sixia
Wang, Yuchen
Qi, Shuangshuang
Ma, Xiaolong
Chen, Jian
Zhang, Yan
AffiliationPeking Univ, Dept Pathol, Sch Basic Med Sci, Hlth Sci Ctr, Beijing, Peoples R China.
Qingdao Univ, Dept Pathol, Affiliated Hosp, Qingdao, Peoples R China.
Peking Univ, Dept Pathol, Sch Basic Med Sci, 38 Xueyuan Rd, Beijing 100191, Peoples R China.
KeywordsFluorescence in situ hybridisation
acral melanoma
CUTANEOUS MALIGNANT-MELANOMA
COPY NUMBER GAINS
LENTIGINOUS MELANOMA
MELANOCYTIC-LESIONS
DIFFERENTIAL-DIAGNOSIS
METASTATIC MELANOMA
BRAF MUTATIONS
FISH
SUBTYPES
NEVUS
Issue Date2017
PublisherPATHOLOGY
CitationPATHOLOGY. 2017, 49(7), 740-749.
AbstractAcral melanoma is associated with outcomes which are more unfavourable than those of other melanoma subtypes, and acral melanoma has higher mortality. However, histological distinction of acral melanoma from acral naevi may be difficult. Fluorescence in situ hybridisation (FISH) targeting specific genes has been used as an ancillary method for differential diagnosis of melanocytic tumours, but most previous studies have focused on non-acral lesions which may have genetic alterations different from acral lesions. We evaluated use of multi-site FISH in the diagnosis of acral melanoma in a series of 82 acral melanocytic tumours. Two probe groups were applied. Probe set 1 involved a 4-probe FISH targeting 6p25 (RREB1), CEP6 (centromere 6), 6q23 (MYB) and 11q13 (CCND1). Probe set 2 involved a 3-probe FISH targeting 8q24 (MYC), 9p21 (CDKN2A) and CEP9 (centromere 9). In 44 primary acral melanomas, sensitivity was 70.5% (31/44) using probe set 1 alone, and 59.1% (26/44) using probe set 2 alone. When both probe sets were combined, sensitivity increased to 88.6% (39/44). The frequency of each gene alteration was as follows: MYC gain in 54.5% cases (24/44), RREB1 gain in 52.3% cases (23/44), CCND1 gain in 45.4% cases (20/44), MYB loss relative to CEP6 in 25.0% cases (11/44), and CDKN2A homozygous deletion in 20.5% cases (9/44). For lesions with both in situ and invasive disease, FISH findings in these two components were similar. No gene alterations were detected in any of 36 benign acral naevi. In this study FISH exhibited sensitivity and specificity in diagnosis of acral melanoma which allows its application as an auxiliary diagnostic test in acral melanocytic tumours.
URIhttp://hdl.handle.net/20.500.11897/500752
ISSN0031-3025
DOI10.1016/j.pathol.2017.08.006
IndexedSCI(E)
PubMed
Medline
Appears in Collections:基础医学院

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