Epithelioid Malignant Peripheral Nerve Sheath Tumor of the Bladder and Concomitant Urothelial Carcinoma: A Case Report

Overview

Journal World J Clin Cases

Publisher Baishideng Publishing Group

Specialty General Medicine

Date 2024 Feb 7

PMID 38322457

Authors

Sami Berk Ozden

Muhammed Fatih Simsekoglu

Ipek Sertbudak

Cetin Demirdag

Iclal Gurses

Affiliations

Soon will be listed here.

Abstract

Background: Epithelioid malignant peripheral nerve sheath tumor (EMPNST) of the bladder is a rare entity with devastating features. These tumors are thought to originate from malignant transformation of pre-existing schwannomas of pelvic autonomic nerve plexuses, and unlike the conventional malignant peripheral nerve sheath tumor (MPNST), are not associated with neurofibromatosis. The tumor has distinctive morphological, immunohistochemical and molecular features. Additionally, it tends to be more aggressive and have a higher mortality. This is the first case that presents with a synchronous urothelial carcinoma of the bladder and the epithelioid variant of MPNST in the literature. It's also the second reported case of EMPNST originating from the bladder wall.

Case Summary: In this case report, we present the detailed clinical course of a 71-year-old patient with EMPNST of the bladder alongside a literature review.

Conclusion: During the management of EMPNST cases, offering aggressive treatment modalities to the patient, such as radical cystectomy, is appropriate for the best chance to contain the disease, regardless of the tumor stage and the extent of local disease at initial diagnosis.

References

Karatzoglou P, Karagiannidis A, Kountouras J, Christofiridis C, Karavalaki M, Zavos C . Von Recklinghausen's disease associated with malignant peripheral nerve sheath thmor presenting with constipation and urinary retention: a case report and review of the literature. Anticancer Res. 2008; 28(5B):3107-13. View

Bradford D, Kim A . Current treatment options for malignant peripheral nerve sheath tumors. Curr Treat Options Oncol. 2015; 16(3):328. DOI: 10.1007/s11864-015-0328-6. View

Gampala S, Shah F, Zhang C, Rhodes S, Babb O, Grimard M . Exploring transcriptional regulators Ref-1 and STAT3 as therapeutic targets in malignant peripheral nerve sheath tumours. Br J Cancer. 2021; 124(9):1566-1580. PMC: 8076291. DOI: 10.1038/s41416-021-01270-8. View

Lee W, Teckie S, Wiesner T, Ran L, Prieto Granada C, Lin M . PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors. Nat Genet. 2014; 46(11):1227-32. PMC: 4249650. DOI: 10.1038/ng.3095. View

Petracco G, Patriarca C, Spasciani R, Parafioriti A . Malignant peripheral nerve sheath tumor of the bladder A case report. Pathologica. 2020; 111(4):365-368. PMC: 8145670. DOI: 10.32074/1591-951X-33-19. View

Kim D, Murovic J, Tiel R, Moes G, Kline D . A series of 397 peripheral neural sheath tumors: 30-year experience at Louisiana State University Health Sciences Center. J Neurosurg. 2005; 102(2):246-55. DOI: 10.3171/jns.2005.102.2.0246. View

Bouty A, Dobremez E, Harper L, Harambat J, Bouteiller C, Zaghet B . Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature. Urol Int. 2018; 100(3):339-345. DOI: 10.1159/000487193. View

Dotan Z, Tal R, Golijanin D, Snyder M, Antonescu C, Brennan M . Adult genitourinary sarcoma: the 25-year Memorial Sloan-Kettering experience. J Urol. 2006; 176(5):2033-8. DOI: 10.1016/j.juro.2006.07.021. View

Miettinen M, Antonescu C, Fletcher C, Kim A, Lazar A, Quezado M . Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Hum Pathol. 2017; 67:1-10. PMC: 5628119. DOI: 10.1016/j.humpath.2017.05.010. View

10.

Jo V, Fletcher C . SMARCB1/INI1 Loss in Epithelioid Schwannoma: A Clinicopathologic and Immunohistochemical Study of 65 Cases. Am J Surg Pathol. 2017; 41(8):1013-1022. DOI: 10.1097/PAS.0000000000000849. View

11.

Perrin R, Guha A . Malignant peripheral nerve sheath tumors. Neurosurg Clin N Am. 2004; 15(2):203-16. DOI: 10.1016/j.nec.2004.02.004. View

12.

Rekhi B, Kosemehmetoglu K, Guler Tezel G, Dervisoglu S . Clinicopathologic features and immunohistochemical spectrum of 11 cases of epithelioid malignant peripheral nerve sheath tumors, including INI1/SMARCB1 results and BRAF V600E analysis. APMIS. 2017; 125(8):679-689. DOI: 10.1111/apm.12702. View

13.

Yang K, Du J, Shi D, Ji F, Ji Y, Pan J . Knockdown of MSI2 inhibits metastasis by interacting with caveolin-1 and inhibiting its ubiquitylation in human NF1-MPNST cells. Cell Death Dis. 2020; 11(6):489. PMC: 7326958. DOI: 10.1038/s41419-020-2703-x. View

14.

OBrien J, Aherne S, Buckley O, Daly P, Torreggiani W . Malignant peripheral nerve sheath tumour of the bladder associated with neurofibromatosis I. Can Urol Assoc J. 2008; 2(6):637-8. PMC: 2593597. DOI: 10.5489/cuaj.985. View

15.

Neuville A, Chibon F, Coindre J . Grading of soft tissue sarcomas: from histological to molecular assessment. Pathology. 2014; 46(2):113-20. DOI: 10.1097/PAT.0000000000000048. View

16.

Jiwani S, Gokden M, Lindberg M, Ali S, Jeffus S . Fine-needle aspiration cytology of epithelioid malignant peripheral nerve sheath tumor: A case report and review of the literature. Diagn Cytopathol. 2015; 44(3):226-31. DOI: 10.1002/dc.23401. View

17.

Terribas E, Fernandez M, Mazuelas H, Fernandez-Rodriguez J, Biayna J, Blanco I . KIF11 and KIF15 mitotic kinesins are potential therapeutic vulnerabilities for malignant peripheral nerve sheath tumors. Neurooncol Adv. 2020; 2(Suppl 1):i62-i74. PMC: 7317059. DOI: 10.1093/noajnl/vdz061. View

18.

Eltoum I, Moore 3rd R, Cook W, Crowe D, Rodgers W, Siegal G . Epithelioid variant of malignant peripheral nerve sheath tumor (malignant schwannoma) of the urinary bladder. Ann Diagn Pathol. 1999; 3(5):304-8. DOI: 10.1016/s1092-9134(99)80027-6. View

19.

Laskin W, Weiss S, Bratthauer G . Epithelioid variant of malignant peripheral nerve sheath tumor (malignant epithelioid schwannoma). Am J Surg Pathol. 1991; 15(12):1136-45. DOI: 10.1097/00000478-199112000-00004. View

20.

Schaefer I, Dong F, Garcia E, Fletcher C, Jo V . Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors. Am J Surg Pathol. 2019; 43(6):835-843. PMC: 6520153. DOI: 10.1097/PAS.0000000000001242. View