Neurofibromatosis-associated nerve sheath tumors

Abstract

<jats:p>In this paper the authors describe a patient with neurofibromatosis Type 1 (NF1) who presented with sequelae of this disease. They also review the current literature on NF1 and NF2 published between 2001 and 2005.</jats:p> <jats:p>The method used to obtain information for the case report consisted of a family member interview and a review of the patient's chart. For the literature review the authors used the search engine Ovid Medline to identify papers published on the topic between 2001 and 2005. Neurofibromatosis Type 1 appears in approximately one in 2500 to 4000 births, is caused by a defect on 17q11.2, and results in neurofibromin inactivation. The authors reviewed the current literature with regard to the following aspects of this disease: 1) diagnostic criteria for NF1; 2) criteria for other NF1-associated manifestations; 3) malignant peripheral nerve sheath tumors (PNSTs); 4) the examination protocol for a patient with an NF1-related NST; 5) imaging findings in patients with NF1; 6) other diagnostic studies; 7) surgical and adjuvant treatment for NSTs and malignant PNSTs; and 8) hormone receptors in NF1-related tumors. Pertinent illustrations are included.</jats:p> <jats:p>Neurofibromatosis Type 2 occurs much less frequently than NF1, that is, in one in 33,000 births. Mutations in NF2 occur on 22q12 and result in inactivation of the tumor suppressor merlin. The following data on this disease are presented: 1) diagnostic criteria for NF2; 2) criteria for other NF2 manifestations; 3) malignant PNSTs in patients with NF2; 4) examination protocol for the patient with NF2 who has an NST; and 5) imaging findings in patients with NF2. Relevant illustrations are included.</jats:p> <jats:p>It is important that neurosurgeons be aware of the sequelae of NF1 and NF2, because they may be called on to treat these conditions.</jats:p>

Isolated primary schwannoma of the urinary bladder- a case presentation

“…Both schwannomas and carcinomas are usually isointense to skeletal muscle on T1 weighted imaging (T1WI) and isointense to slightly hyperintense to skeletal muscle on T2 weighted imaging (T2WI). 5 The prognosis of neurofibroma and schwannoma is generally good. Most patients with bladder neurofibroma have been treated by local excision and are alive without recurrence.…”

Schwannoma of the urinary bladder: a case report

“…However, a few characteristic features exist. Bladder schwannomas appear isodense or hypodense to surrounding muscle [ 14 ]. Schwannomas are not typically associated with calcifications [ 8 ].…”

“…MRI is slightly more sensitive than CT for the evaluation of suspected schwannomas, but differentiation between a bladder schwannoma and carcinoma remains difficult. Both schwannomas and carcinomas are usually isointense to skeletal muscle on T1 weighted imaging (T1WI) and isointense to slightly hyperintense to skeletal muscle on T2 weighted imaging (T2WI) [ 14 , 18 ]. Given their similar appearance on both CT and MRI, clinical history is of the upmost importance.…”

Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case

“…Subsequent MRI aids in the evaluation of NF associated nerve sheath tumours in order to evaluate the location of the lesion, the relationship with the adjacent tissues and the margins of the lesion. It could be also useful for deep multiloculated neurofibromas and for preoperative staging of the disease 9. Plain radiographs may be indicated for lesions of the thorax as an initial investigation.…”