Humans ; Child ; Neurofibromatosis 1/drug therapy* ; Benzimidazoles/therapeutic use*

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited familial tumor syndrome. Benign tumors such as pilocytic astrocytoma, optic glioma make up the majority of intracranial neoplasms in patients with NF1. There have only been a handful of cases in which adult glioblastoma presented with NF1. A 32-year-old male presented with headache and radiological studies showing a high grade intra-axial tumor. The patient underwent gross total surgical excision and the pathology revealed glioblastoma. After the surgery, he received concomitant chemo-radiotherapy with temozolomide and adjuvant temozolomide chemotherapy. We report a NF1 patient who developed glioblastoma and reviewed related articles.
Adult ; Astrocytoma ; Brain Neoplasms ; Drug Therapy ; Glioblastoma* ; Hand ; Headache ; Humans ; Male ; Neurofibromatosis 1* ; Optic Nerve Glioma ; Pathology

The malignant peripheral nerve sheath tumor (MPNST) originates from neurofibromatosis type 1 (NF1). Because NF1 patients have many accompaniments with growth of additional masses, they usually overlook potential malignant changes in their masses. Our patient had two growing mass near the left elbow for several months; however, she ignored these masses until 7 days prior to writing this article, at which time they began bleeding. Traditionally, sarcoma including MPNST treatment consisted of amputation of the involved extremity. However, treatment now consists of surgical resection with adjuvant therapy. Therefore, we conducted resection of the mass and subsequent coverage with a local advancement flap. We believe that the most effective treatment for MPNST is early diagnosis and fast surgery, coupled with notification that there is always potential for malignant change in NF1 patient's masses.
Amputation ; Diagnosis ; Drug Therapy ; Early Diagnosis ; Elbow ; Extremities ; Hemorrhage ; Humans ; Neurilemmoma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Peripheral Nerves* ; Sarcoma ; Writing

A Malignant Schwannoma is a relatively rare primary nerve sheath tumor arises from Sehwann cells of the peripheral nerves. This tumor is frequently associated with von Recklinghausens disease. A high percentage of patients experience local recurrence even after radical surgical excision, and eventual pulmonary metastases via the intraneural and hematogenous routes. The treatment of choice is radical excision or amputation. Results of treatment with radiation and chemotherapy have been disappointing. The authors have experienced two cases of Malignant Schwannoma, one of which was located in the median nerve of the palm, the other in the ulnar nerve of the arm, but neither were associated with von Recklinghausens disease.
Amputation ; Arm ; Drug Therapy ; Humans ; Median Nerve ; Neoplasm Metastasis ; Neurilemmoma ; Neurofibromatosis 1 ; Peripheral Nerves ; Recurrence ; Ulnar Nerve

BACKGROUNDNeurofibromatosis type 1 (NF1) is the most common genetic syndrome predisposing patients to various tumors due to dysregulation of the Ras signaling pathway. Recent research has shown NF1 patients also suffer a spectrum of bone pathologies. The pathogenesis of NF1 bone diseases is largely unknown. There is no current treatment. By Nf1 heterozygote (Nf1+/-) mice and Nf1 conditional knockout mice, we and other groups demonstrated abnormal osteoblast and osteoclast function due to dysregulation of Ras signaling. However, the specific downstream effector pathways linked to NF1 abnormal osteoblastogenesis and osteoclastogenesis have not been defined. In this study, we investigated the Ras downstream effector related with NF1 bone disease.

METHODSWe used Nf1+/+ and Nf1+/- mice as normal and NF1 models. Bone stromal cells extracted from Nf1+/+ and Nf1+/- mice were induced osteoclasts. The osteoclast cell was stained by tartrate resistant acid phosphatase staining. The osteoclast cell number was counted and the surface area of osteoclast cells was calculated under the microscope. The mRNA of mammalian target of rapamycin (mTOR) was determined by quantitative reverse-transcription-polymerase chain reaction. The presence of ribosomal protein S6 kinase was determined by Western blotting.

RESULTSCompared with Nf1+/+ mice, Nf1+/- mice had about 20% more of osteoclast cells. These osteoclast cells were larger in size with more nuclei. Hyperactive mTOR was detected in Nf1+/- osteoclast cells. Inhibition of mTOR signaling by rapamycin in Nf1+/- osteoclasts abrogated abnormalities in cellular size and number.

CONCLUSIONmTOR pathway inhibition may represent a viable therapy for NF1 bone diseases.

Animals ; Male ; Mice ; Neurofibromatosis 1 ; drug therapy ; Osteoclasts ; drug effects ; physiology ; Osteogenesis ; drug effects ; Sirolimus ; pharmacology ; TOR Serine-Threonine Kinases ; antagonists & inhibitors ; physiology

Antineoplastic Agents ; therapeutic use ; Benzamides ; Drug Resistance, Neoplasm ; Exons ; Gastrointestinal Stromal Tumors ; drug therapy ; metabolism ; pathology ; Humans ; Imatinib Mesylate ; Mutation ; Neurofibromatosis 1 ; metabolism ; pathology ; Omentum ; Peritoneal Neoplasms ; metabolism ; pathology ; Piperazines ; therapeutic use ; Prognosis ; Proto-Oncogene Proteins c-kit ; genetics ; metabolism ; Pyrimidines ; therapeutic use