A 40-year-old man complaining of voiding symptoms was referred to our hospital for further examinations and treatment of giant bladder diverticulum and possibly underlying neurogenic bladder dysfunction. Because computed tomography and magnetic resonance imaging revealed the presence of a tumorous lesion covering the bladder diverticulum, transurethral biopsy was performed to elucidate its pathological characteristics. Through the histopathological examination of the biopsy specimens the tumorous lesion was diagnosed as ganglioneuroma which was benign. The whole diverticulum with the concomitant tumor lesion was surgically excised. Full examination of the surgical specimen concluded the final histopathological diagnosis of the tumor to be plexiform neurofibroma. As multiple café-au-lait spots were found on the patient's skin, he was clinically diagnosed with neurofibromatosis type 1.
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http://dx.doi.org/10.14989/ActaUrolJap_65_12_513 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Cancer Biology & Genetics Program, Sloan Kettering Institute, New York, NY 10065.
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas and the primary cause of mortality in patients with neurofibromatosis type 1 (NF1). These malignancies develop within preexisting benign lesions called plexiform neurofibromas (PNs). PNs are solely driven by biallelic loss eliciting RAS pathway activation, and they respond favorably to MEK inhibitor therapy.
View Article and Find Full Text PDFClin Cancer Res
December 2024
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Badalona, Barcelona, Spain.
Purpose: Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma that develops sporadically or in Neurofibromatosis type 1 patients. Its development is marked by the inactivation of specific tumor suppressor genes (TSGs): NF1, CDKN2A and SUZ12EED (Polycomb Repressor Complex 2). Each TSG loss can be targeted by particular drug inhibitors and we aimed to systematically combine these inhibitors, guided by TSG inactivation status, to test their precision medicine potential for MPNSTs.
View Article and Find Full Text PDFNeuroradiol J
January 2025
Department of Neuroradiology, Mayo Clinic, USA.
Despite their similar nomenclature, Neurofibromatosis type 1 (NF1) and "Neurofibromatosis type 2" are discrete and clinically distinguishable entities. The name of "neurofibromatosis type 2" has been changed to NF2-related schwannomatosis, to reflect the fact that neurofibromas do not occur in this syndrome and therefore the name "Neurofibromatosis" is factually incorrect. Furthermore, multiple schwannomas, a hallmark feature of NF2, can also occur in patients with mutations in genes including SMARCB1 and LZTR1, all exhibiting overlapping clinical features.
View Article and Find Full Text PDFBackground: Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience.
View Article and Find Full Text PDFLife (Basel)
December 2024
Department of Thoracic Surgery and Transplantation, Pomeranian Medical University in Szczecin, Alfreda Sokołowskiego 11, 70-891 Szczecin, Poland.
Neurofibromatosis type 1 (NF1) significantly increases the risk of malignant peripheral nerve sheath tumors (MPNST), a rare and aggressive malignancy for which treatment is clinically challenging. This paper presents the case of a 24-year-old male with an NF1 who developed MPNST with lung metastases. Due to the limited effectiveness of systemic therapy in the treatment of MPNST, the patient underwent radical surgical resection and radiotherapy.
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