International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis.

TLDR

Neurofibromatosis 1 is an autosomal dominant tumor‑predisposition syndrome that markedly increases the risk of malignant peripheral nerve sheath tumors, which are difficult to detect, have poor prognosis, and are often overlooked due to fragmented specialist care. The consortium calls for collaborative research leveraging molecular genetics to develop targeted therapies for MPNST in NF1 patients. A multidisciplinary panel of 33 clinicians and scientists reviewed published and unpublished data, collated clinical, pathological, and genetic information, and created a uniform database to produce a consensus summary on MPNST in NF1. The group identified high‑risk subgroups, established guidelines for diagnosis, surgical and medical management, and advocated a multidisciplinary approach, emphasizing that guideline adoption and widespread dissemination can advance care.

Abstract

Neurofibromatosis 1 (NF1) is an autosomal dominant tumor predisposition syndrome in which affected individuals have a greatly increased risk of developing malignant peripheral nerve sheath tumors (MPNSTs). These cancers are difficult to detect and have a poor prognosis. Because patients may present to specialists from widely differing disciplines, the association with NF1 is often not appreciated, and there is no cohesive pattern of care. A multidisciplinary group of 33 clinicians and scientists with specialist knowledge in MPNST and NF1 reviewed the current published and unpublished data in this field, and distilled their collective experience to produce a consensus summary on MPNST in NF1. The known clinical, pathological, and genetic information on MPNST in NF1was collated, and a database was established to record information in a uniform manner. Subgroups with a higher risk of developing MPNSTwere identified within the NF1 population. The consortium formulated proposals and guidelines for clinical and pathological diagnosis, surgical management, and medical treatment of MPNST in individuals with NF1.A multidisciplinary team approach to the management of this complex disorder is advocated. Progress can be made by adopting the guidelines proposed by this consortium and by widespread dissemination of standardized information. Collaborative research should be promoted with the aim of harnessing advances in molecular genetics to develop targeted therapies for MPNST in people with NF1.