Evidence map›Paper›PMID 40627078›Full record

ArticleVirchows Archiv : an international journal of pathology2025

Small cell carcinoma with rhabdomyosarcomatous differentiation of the urinary bladder: an integrated clinicopathological and molecular characterization of five cases.

Ming Zhao, Ping Zhang, Jiayun Xu, Suying Wang, Yinzhou Shi, Lin Ye, Xiaomin Xu, Xiaodong Teng

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Article in Virchows Archiv : an international journal of pathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Ming ZhaoNingbo Clinical Pathology Diagnosis Center, #685 Huancheng North Road, Ningbo , Zhejiang, 315000, China. zhaomingpathol@163.com.ORCID http://orcid.org/0000-0001-5971-7303
Ping ZhangNingbo Clinical Pathology Diagnosis Center, #685 Huancheng North Road, Ningbo , Zhejiang, 315000, China.
Jiayun XuNingbo Clinical Pathology Diagnosis Center, #685 Huancheng North Road, Ningbo , Zhejiang, 315000, China.
Suying WangNingbo Clinical Pathology Diagnosis Center, #685 Huancheng North Road, Ningbo , Zhejiang, 315000, China.
Yinzhou ShiDepartment of Pathology, Zhejiang Province People's Hospital, Hangzhou, 310014, China.
Lin YeDepartment of Pathology, Chain Medical Labs, Hangzhou, 311100, China.
Xiaomin XuDepartment of Hospital Infection Management, Ningbo No.2 Hospital, Ningbo, 315000, China.
Xiaodong TengDepartment of Pathology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China.

Funding

Ningbo Top Medical and Health Research Program 2023010211
6 · The paper itself

Abstract

This study delineates the clinicopathological and molecular features of five rare cases of small cell carcinoma (SmCC) of the urinary bladder with rhabdomyosarcomatous differentiation, distinguishing them from alveolar rhabdomyosarcoma (ARMS). All patients were adult males (median age: 67 years) presenting with hematuria and solitary exophytic bladder masses (mean size: 2.9 cm). Histologically, tumors exhibited predominant SmCC morphology with focal anaplastic features. Focal area showing features suggesting rhabdomyosarcomatous differentiation included scattered cells with eosinophilic cytoplasm and eccentric nuclei resembling rhabdoid or immature skeletal muscle (2/5), and pseudoglandular/alveolar growth patterns mimicking ARMS (2/5). All tumors had coexisting urothelial carcinoma components (accounting for 5-15% of tumor volume). Immunohistochemistry revealed epithelial (AE1/AE3, CAM5.2), neuroendocrine (synaptophysin and/or chromogranin A, INSM1, CD56), and myogenic (desmin, MyoD1, myogenin) marker co-expression within SmCC. Molecular profiling demonstrated universal TP53/RB1 inactivation (5/5), recurrent TERT promoter mutations (4/5), and high tumor mutational burden (mean: 27.4 muts/Mb), while fluorescence in situ hybridization demonstrated the absence of ARMS-defining rearrangements involving PAX3, PAX7, and FOXO1 in all cases. Among four patients with available follow-up (5-19 months), one died of disease at 5 months, one developed multiple bone metastases by 5 months, while two showed no tumor recurrence or metastatic progression (both were treated with radical cystectomy followed by adjuvant etoposide-cisplatin chemotherapy). This study provides the first integrated clinicopathological and molecular characterization of SmCC with rhabdomyosarcomatous differentiation in the bladder. The presence of SmCC-specific alterations (TP53/RB1/TERT) and absence of ARMS-defining fusions support classification as a unique SmCC subtype with divergent rhabdomyosarcomatous differentiation.

Indexed as

Carcinoma, Small CellRhabdomyosarcomaRhabdomyosarcoma, AlveolarUrinary Bladder NeoplasmsAgedBiomarkers, TumorCell DifferentiationDiagnosis, DifferentialHumansImmunohistochemistryMaleMiddle AgedRetinoblastoma Binding ProteinsUbiquitin-Protein LigasesBiomarkers, TumorRB1 protein, humanRetinoblastoma Binding ProteinsUbiquitin-Protein LigasesPAX3/7::FOXO1 fusionRB1RhabdomyosarcomaSmall cell carcinomaTERT promoter mutationUrinary bladder; TP53

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.