Spontaneous hemorrhage simulating rapid growth of a benign subperiosteal plexiform neurofibroma.

Pediatr Radiol

Department of Radiology, Children's Hospital at Montefiore, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA.

Published: September 2007

Spontaneous subperiosteal hemorrhage is a rare complication of von Recklinghausen's disease. There are few reports describing the MR imaging characteristics of this entity. Our case is unique among these as an underlying plexiform neurofibroma was visualized by MR imaging. We present a 12-year-old child with neurofibromatosis 1 who presented with a rapidly enlarging mass of the fibula. Surgery and pathology revealed subperiosteal hemorrhage into a benign, plexiform neurofibroma. The MR imaging features, pathogenesis and clinical implications of this entity are discussed. Recognition of this disease process and differentiating it from malignant transformation can prevent unnecessary surgery.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-007-0535-9DOI Listing

Publication Analysis

Top Keywords

plexiform neurofibroma
12
subperiosteal hemorrhage
8
spontaneous hemorrhage
4
hemorrhage simulating
4
simulating rapid
4
rapid growth
4
growth benign
4
benign subperiosteal
4
subperiosteal plexiform
4
neurofibroma spontaneous
4

Similar Publications

Background: Oral therapeutic options for plexiform neurofibromas (PNs) in individuals with neurofibromatosis type 1 (NF1) are receiving attention in clinical research. The MEK inhibitor (MEKi) Selumetinib is FDA-approved in children ages 2+ years with inoperable PNs, and shows activity in adults. Prolonged therapy with selumetinib is necessary to maintain tumor reduction.

View Article and Find Full Text PDF

Background: Peripheral nerve sheath tumors (PNSTs) encompass entities with different cellular differentiation and degrees of malignancy. Spatial heterogeneity complicates diagnosis and grading of PNSTs in some cases. In malignant PNST (MPNST) for example, single cell sequencing data has shown dissimilar differentiation states of tumor cells.

View Article and Find Full Text PDF

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

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!