期刊
HISTOPATHOLOGY
卷 -, 期 -, 页码 -出版社
WILEY
DOI: 10.1111/his.15118
关键词
biomarker; differential diagnosis; mucinous adenocarcinoma; urethra
Primary mucinous adenocarcinoma of the urethra is an extremely rare entity. This study characterized the clinicopathological, immunohistochemical and molecular features of 35 cases, providing crucial insights into its diagnosis, management and potential targeted treatments. The study identified a greater sensitivity to CDX2, SATB2 and CDH17 in these tumors for the first time, and identified characteristics such as an MSI-low profile, non-V600E BRAF mutations and an absence of ALK rearrangements.
AimPrimary mucinous adenocarcinoma of the urethra represents an extremely rare entity. We sought to characterise further these tumours' clinicopathological, immunohistochemical and molecular features.Methods and resultsThirty-five cases were identified, occurring in 18 males and 17 females. The mean age at diagnosis was 65 years (28-89 years). The main presentation symptoms were haematuria and urinary outlet obstruction. Microscopic analysis revealed that all 35 tumours have stromal dissection by mucin. Ten tumours showed villoglandular dysplasia, nine showed mucinous metaplasia, two showed adenocarcinoma in situ and four showed signet ring cell features. All tumours were immunopositive for CEA, while immunonegative for nuclear beta-catenin; 19 of 23 (83%) expressed high molecular weight cytokeratin; 19 of 33 (58%) CK7; 28 of 34 (82%) CK20; 32 of 35 (91%) CDX2; 22 of 27 (81%) cadherin-17 (CDH-17); 26 of 29 (90%) SATB2; and one of 31 (3%) GATA3. Mismatch repair gene products, including MLH1, PMS2, MSH2 and MSH6, were immunopositive, suggesting the MSI-low genotype of mucinous adenocarcinoma of the urethra. BRAF V600E and ALK rearrangements were not detected. During the mean follow-up of 20 months, nine patients either developed distant metastasis or succumbed to the illness.ConclusionOur study, encompassing the most extensive series of 35 cases of primary mucinous adenocarcinoma of the urethra, provides crucial insights into its precise diagnosis, management and potential targeted treatments. We found a greater CDX2, SATB2 and CDH17 sensitivity in these urethral tumours for the first time, to our knowledge. We identified characteristics such as an MSI-low profile, non-V600E BRAF mutations and an absence of ALK rearrangements. Primary mucinous adenocarcinoma of the urethra represents an extremely rare entity. In our study, we further characterise the clinicopathological, immunohistochemical and molecular features of these tumours and suggest that mucinous adenocarcinoma of the urethra is characterised by an MSI-low profile, non-V600E BRAF mutations and the absence of ALK rearrangements.image
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