Mouse Tumor Model for Neurofibromatosis Type 1 

Updated nomenclature for human and mouse neurofibromatosis type 1 genes

Mouse models of neurofibromatosis type I: bridging the GAP.

Neurofibromatosis type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities. The protein encoded by NF1, neurofibromin, has several biochemical functions and is expressed in a variety of different cell populations. Hence, determination of the molecular and cellular me...

Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1

Multiple jejunalgastrointestinal stromal tumors (GISTs) were found in a 52-year-old woman with a history of neurofibromatosis type 1. These tumors were composed of interlacing fascicles of uniform spindle cells with eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for CD117, CD34 and negative for S-100, smooth muscle actin. Molecular analysis for activating mutations...

TUMOR ASSOCIATED OSTEOMALACIA IN NEUROFIBROMATOSIS: CASE REPORT AND LITERATURE REVIEW

The association of osteomalacia with neurofibromatosis is a very rare entity. Here a 34 year old man, a known case of neurofibromatosis, is reported who presented with bone pain, hypophosphatemia, rena] phosphorus wasting, multiple Looser's pseudofractures, and low bone density. Treatment with high dose calcitriol and phosphate resulted in temporary treatment. Permanent cure was achieved a...

Primary Intracranial Malignant Nerve Sheath Tumor in the Cerebellopontine Angle in a Woman with Neurofibromatosis Type 2

Neurofibromatosis type 2 is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve VIII usually as schwannoma. We report here a 20-year-old woman with primary intracranial malignant nerve sheath tumor located in the left cerebellopontine angle. Histologically, the tumor showed malignant spindle c...