Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature

Bouty, Aurore; Dobremez, E.; Harper, Luke; Harambat, Jérôme; Bouteiller, Cécile; Zaghet, B.; Wolkenstein, Pierre; Ducassou, Stéphane; Lefèvre, Yan

doi:10.1159/000487193

Cited by 9 publications

(3 citation statements)

References 24 publications

(48 reference statements)

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“…The youngest patient reported in the literature had neurofibromatosis type 1 disease and was 9-years-old at the time of diagnosis. The patient underwent cystectomy and was treated with systemic therapy[ 22 ]. The disease may present with painless hematuria, abdominal mass, weight loss or nonspecific irritative urinary symptoms.…”

Section: Discussionmentioning

confidence: 99%

Epithelioid malignant peripheral nerve sheath tumor of the bladder and concomitant urothelial carcinoma: A case report

Ozden,

Simsekoglu,

Sertbudak

et al. 2024

World J Clin Cases

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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.

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Section: Discussionmentioning

confidence: 99%

Epithelioid malignant peripheral nerve sheath tumor of the bladder and concomitant urothelial carcinoma: A case report

Ozden,

Simsekoglu,

Sertbudak

et al. 2024

World J Clin Cases

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“…The youngest patient reported in the literature had neuro bromatosis type 1 disease and was 9 years old at the time of diagnosis. Patient undergone cystectomy and treated with systemic therapy (31). The disease may present with painless hematuria, abdominal mass, weight loss or nonspeci c irritative urinary symptoms.…”

Section: Discussionmentioning

confidence: 99%

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

Özden

Şimşekoğlu

Sertbudak

et al. 2023

Preprint

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Epitheloid malignant peripheral nerve sheath tumor (eMPNST) of baldder, is a rare entity with devastating features. They are thought to originate from malignant transformation of pre-existing schwannomas of pelvic autonomic nerve plexuses and unlike the conventional MPNST’s they are not found to be in association with neurofibromatosis. In this case report we present the detailed clinical course of a 71-year- old patient with eMPNST of bladder alongside with a review of the literature.

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“…Nos casos viscerais, a suspeita clínica é fundamental. O menino em apreço iniciou o quadro com urgência urinária e disfunção esfincteriana anal, que são sintomas comuns de apresentação nos NFP vesicais 13,14 . Curiosamente, os NFP de bexiga são mais frequentes no sexo masculino (2:1) 15 .…”

Section: Revista Brasileira De Cancerologia 2018; 64(4): 581-585unclassified

Neurofibroma Plexiforme Vesical em Portador de Neurofibromatose: Relato de caso

Domingos¹,

Gomes²,

Nasr³

et al. 2018

Rev. Brasileira.De.Cancerologia

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Introdução: A neurofibromatose do tipo 1 (NF1) e uma doença hereditária de caráter autossômico dominante, com reentrância completa e relacionada a mutações no gene NF1 (17q11.2). Apresenta expressão extremamente variável e predisposição a ocorrência de tumores. Complicações como neurofibromas viscerais estão presentes em apenas 1% dos casos de NF1. Neurofibromas vesicais são extremamente raros. Relato do caso: O presente caso faz referencia a um paciente do sexo masculino com 4 anos de idade que apresentava sinais e sintomas de disfunção urinaria e intestinal associados a desvio da coluna lombossacra. Ao exame, foram identificadas características típicas de NF1 e os exames complementares permitiram o diagnostico de um neurofibroma vesical. Posteriormente, foi concluído o diagnostico de NF1. Conclusão: O diagnostico de síndromes predisponentes ao câncer e o rastreio de tumores associados a essas condições são essenciais aos portadores dessas doenças.

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Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature

Cited by 9 publications

References 24 publications

Epithelioid malignant peripheral nerve sheath tumor of the bladder and concomitant urothelial carcinoma: A case report

Epithelioid malignant peripheral nerve sheath tumor of the bladder and concomitant urothelial carcinoma: A case report

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

Neurofibroma Plexiforme Vesical em Portador de Neurofibromatose: Relato de caso

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