The comparative utility of fluorescence in situ hybridization and reverse transcription-polymerase chain reaction in the diagnosis of alveolar rhabdomyosarcoma

被引:4
|
作者
Thway, Khin [1 ]
Wang, Jayson [2 ]
Wren, Dorte [3 ]
Dainton, Melissa [4 ]
Gonzalez, David [3 ]
Swansbury, John [4 ]
Fisher, Cyril [1 ]
机构
[1] Royal Marsden NHS Fdn Trust, Sarcoma Unit, London SW3 6JJ, England
[2] Royal Marsden Hosp, Dept Histopathol, London SW3 6JJ, England
[3] Royal Marsden Hosp, Mol Diagnost, Sutton, Surrey, England
[4] Royal Marsden Hosp, Clin Cytogenet, Sutton, Surrey, England
关键词
Alveolar rhabdomyosarcoma; Fluorescence in situ hybridization; Molecular diagnostics; Reverse transcription-polymerase chain reaction; Sarcoma; CHILDRENS ONCOLOGY GROUP; PARAFFIN-EMBEDDED SPECIMENS; FUSION GENE; CHROMOSOMAL TRANSLOCATION; SARCOMA; CLASSIFICATION; IDENTIFICATION; PROGNOSIS; PAX3-FKHR; ASSAY;
D O I
10.1007/s00428-015-1777-9
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Fluorescence in situ hybridization (FISH) for FOXO1 gene rearrangement and reverse transcription-polymerase chain reaction (PCR) for PAX3/7-FOXO1 fusion transcripts have become routine ancillary tools for the diagnosis of alveolar rhabdomyosarcomas (ARMS). Here we summarize our experience of these adjunct diagnostic modalities at a tertiary center, presenting the largest comparative series of FISH and PCR for suspected or possible ARMS to date. All suspected or possible ARMS tested by FISH or PCR for FOXO1 rearrangement or PAX3/7-FOXO1 fusion transcripts over a 7-year period were included. FISH and PCR results were correlated with clinical and histologic findings. One hundred samples from 95 patients had FISH and/or PCR performed. FISH had higher rates of technical success (96.8 %) compared with PCR (88 %). Where both tests were utilized successfully, there was high concordance rate between them (94.9 %). In 24 histologic ARMS tested for FISH or PCR, 83.3 % were translocation-positive (all for PAX3-FOXO1 by PCR) and included 3 histologic solid variants. In 76 cases where ARMS was excluded, there were 3 potential false-positive cases with FISH but none with PCR. PCR had similar sensitivity (85.7 %) and better specificity (100 %) in aiding the diagnosis of ARMS, compared with FISH (85 and 95.8 %, respectively). All solid variant ARMS harbored FOXO1 gene rearrangements and PAX3-FOXO1 ARMS were detected to the exclusion of PAX7-FOXO1. In comparative analysis, both FISH and PCR are useful in aiding the diagnosis of ARMS and excluding its sarcomatous mimics. FISH is more reliable technically but has less specificity than PCR. In cases where ARMS is in the differential diagnosis, it is optimal to perform both PCR and FISH: both have similar sensitivities for detecting ARMS, but FISH may confirm or exclude cases that are technically unsuccessful with PCR, while PCR can detect specific fusion transcripts that may be useful prognostically.
引用
收藏
页码:217 / 224
页数:8
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