TY - JOUR
T1 - Primary mucinous adenocarcinoma of the urethra
T2 - A clinicopathological analysis of 35 cases
AU - Ge, Rongbin
AU - Zhang, Jing
AU - Lu, Min
AU - Shi, Yuchuan
AU - Yan, Shi
AU - Xue, Zixuan
AU - Wang, Zongwei
AU - Lopez-Beltran, Antonio
AU - Cheng, Liang
N1 - Publisher Copyright:
© 2023 John Wiley & Sons Ltd.
PY - 2024/4
Y1 - 2024/4
N2 - Aim: Primary mucinous adenocarcinoma of the urethra represents an extremely rare entity. We sought to characterise further these tumours’ clinicopathological, immunohistochemical and molecular features. Methods and results: Thirty-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 β-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. Conclusion: Our 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.
AB - Aim: Primary mucinous adenocarcinoma of the urethra represents an extremely rare entity. We sought to characterise further these tumours’ clinicopathological, immunohistochemical and molecular features. Methods and results: Thirty-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 β-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. Conclusion: Our 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.
KW - biomarker
KW - differential diagnosis
KW - mucinous adenocarcinoma
KW - urethra
UR - http://www.scopus.com/inward/record.url?scp=85180171593&partnerID=8YFLogxK
U2 - 10.1111/his.15118
DO - 10.1111/his.15118
M3 - Article
C2 - 38114291
AN - SCOPUS:85180171593
SN - 0309-0167
VL - 84
SP - 753
EP - 764
JO - Histopathology
JF - Histopathology
IS - 5
ER -