Neurofibromatosis is a common inherited autosomal dominant disease, but genitourinary neurofibroma is rare. The unpredictable nature of neurofibromas has a serious impact on the quality of life of patients, and their management is challenging for clinicians. We present a 9-year-old girl with plexiform neurofibroma of genitourinary system associated with pulmonary hypertension, masquerading as sacrococcygeal teratoma. Intraoperative finding and histological examination of the resected tumor confirmed the diagnosis.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461780PMC
http://dx.doi.org/10.4103/2006-8808.100356DOI Listing

Publication Analysis

Top Keywords

plexiform neurofibroma
8
sacrococcygeal teratoma
8
genitourinary plexiform
4
neurofibroma mimicking
4
mimicking sacrococcygeal
4
teratoma neurofibromatosis
4
neurofibromatosis common
4
common inherited
4
inherited autosomal
4
autosomal dominant
4

Similar Publications

NF1 encodes the multifunctional tumour suppressor protein, neurofibromin, which is best known for its causative role in Neurofibromatosis type 1 and in regulating MAPK signaling. Neurofibromin, in a context-specific manner, is involved in various tumorigenic processes, including those in melanocytes. This study investigated whether NF1 loss can collaborate with oncogenic GNAQ to promote melanoma in the dermis or eyes, where the G alpha q pathway is almost always activated.

View Article and Find Full Text PDF

Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.

View Article and Find Full Text PDF

Selumetinib in adults with NF1 and inoperable plexiform neurofibroma: a phase 2 trial.

Nat Med

January 2025

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

The MEK inhibitor selumetinib induces objective responses and provides clinical benefit in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PNs). To evaluate whether similar outcomes were possible in adult patients, in whom PN growth is generally slower than in pediatric patients, we conducted an open-label phase 2 study of selumetinib in adults with NF1 PNs. The study was designed to evaluate objective response rate (primary objective), tumor volumetric responses, patient-reported outcomes and pharmacodynamic effects in PN biopsies.

View Article and Find Full Text PDF

Objective: In Japan, selumetinib is used in pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibroma (PN). However, there have been no real-world reports on Japanese patients. In this study, we reported a single-center, short-term experience with selumetinib after its approval in Japan.

View Article and Find Full Text PDF

SUCLG1 promotes aerobic respiration and progression in plexiform neurofibroma.

Int J Oncol

February 2025

Department of Burn and Plastic Surgery, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250021, P.R. China.

Plexiform neurofibromas (PNFs) are benign tumors that affect 20‑50% of patients with type I neurofibromatosis (NF1). PNF carries a risk of malignancy. There is no effective cure for PNF.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!