Elevated Risk for MPNST in NF1 Microdeletion Patients
نویسندگان
چکیده
منابع مشابه
Malignant peripheral nerve sheath tumors (MPNST) in NF1-affected children.
BACKGROUND Malignant peripheral nerve sheath tumors (MPNST) constitute a heterogeneous group of malignant tumors that probably arise from cells of the peripheral nerve sheath. Association of MPNST with neurofibromatosis type 1 (NF1) is frequently reported. MPNST contribute significantly to the reduced life-span of NF1-patients. At present there are only sparse data on MPNST in NF1-children. The...
متن کاملAn Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.
متن کاملIdentification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.
Patients with NF1 microdeletion develop more neurofibromas at a younger age, and have an increased risk of malignant peripheral nerve sheath tumors (MPNSTs). We postulated that the increased risk of malignancy could be due to inactivation, in addition to NF1, of a second tumor suppressor gene located in the typical 1.4-Mb microdeletion found in most of the microdeleted patients. We investigated...
متن کاملGene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin.
PURPOSE Plexiform neurofibromas (pNF) are Schwann cell tumors found in a third of individuals with neurofibromatosis type 1 (NF1). pNF can undergo transformation to malignant peripheral nerve sheath tumors (MPNST). There are no identified serum biomarkers of pNF tumor burden or transformation to MPNST. Serum biomarkers would be useful to verify NF1 diagnosis, monitor tumor burden, and/or detect...
متن کاملSerum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors
BACKGROUND Neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome characterized by the development of benign nerve-sheath tumors, which transform to malignant peripheral nerve-sheath tumors (MPNST) in about 8 to 13% of patients with NF1. MPNST are invasive sarcomas with extremely poor prognosis, and their development may correlate with internal tumor load of patients with NF1. Because ea...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2003
ISSN: 0002-9297
DOI: 10.1086/374821