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Malignant peripheral nerve sheath tumor

MedGen UID:
155614
•Concept ID:
C0751690
•
Neoplastic Process
Synonyms: Malignant Neurilemmoma; Malignant Neurilemmomas; Malignant Neurilemoma; Malignant Neurilemomas; Malignant Peripheral Nerve Sheath Tumor; Malignant Peripheral Nerve Sheath Tumors; Malignant Schwannoma; Malignant Schwannomas; MPNST; Neurilemmoma, Malignant; Neurilemmosarcoma; Neurilemmosarcomas; Neurilemoma, Malignant; Peripheral Nerve Sheath Tumors, Malignant; Schwannoma, Malignant
SNOMED CT: MPNST - Malignant peripheral nerve sheath tumor (19897006); Malignant peripheral nerve sheath tumor (404037002); Malignant schwannoma (404037002); Malignant peripheral nerve sheath tumor (19897006); Malignant neurilemoma (404037002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0017827
Orphanet: ORPHA3148

Definition

Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Malignant peripheral nerve sheath tumor in Orphanet.

Professional guidelines

PubMed

The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior.
Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K
Genet Med 2018 Jul;20(7):671-682. Epub 2018 Apr 26 doi: 10.1038/gim.2018.28. PMID: 30006586
Neurofibromatosis type 1 (NF1): diagnosis and management.
Ferner RE, Gutmann DH
Handb Clin Neurol 2013;115:939-55. doi: 10.1016/B978-0-444-52902-2.00053-9. PMID: 23931823

Recent clinical studies

Etiology

Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study.
Szymanski JJ, Sundby RT, Jones PA, Srihari D, Earland N, Harris PK, Feng W, Qaium F, Lei H, Roberts D, Landeau M, Bell J, Huang Y, Hoffman L, Spencer M, Spraker MB, Ding L, Widemann BC, Shern JF, Hirbe AC, Chaudhuri AA
PLoS Med 2021 Aug;18(8):e1003734. Epub 2021 Aug 31 doi: 10.1371/journal.pmed.1003734. PMID: 34464388Free PMC Article
Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib.
Galvin R, Watson AL, Largaespada DA, Ratner N, Osum S, Moertel CL
Curr Oncol Rep 2021 Mar 15;23(4):45. doi: 10.1007/s11912-021-01032-y. PMID: 33721151
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K
Genet Med 2018 Jul;20(7):671-682. Epub 2018 Apr 26 doi: 10.1038/gim.2018.28. PMID: 30006586
Neurofibromatosis type 1.
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
Malignant Peripheral Nerve Sheath Tumor.
James AW, Shurell E, Singh A, Dry SM, Eilber FC
Surg Oncol Clin N Am 2016 Oct;25(4):789-802. doi: 10.1016/j.soc.2016.05.009. PMID: 27591499

Diagnosis

Nerve Tumors of the Upper Extremity.
Strike SA, Puhaindran ME
Clin Plast Surg 2019 Jul;46(3):347-350. doi: 10.1016/j.cps.2019.02.008. PMID: 31103079
Neurofibromatosis type 1.
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A
Hum Pathol 2017 Sep;67:1-10. Epub 2017 May 24 doi: 10.1016/j.humpath.2017.05.010. PMID: 28551330Free PMC Article
Malignant Peripheral Nerve Sheath Tumor.
James AW, Shurell E, Singh A, Dry SM, Eilber FC
Surg Oncol Clin N Am 2016 Oct;25(4):789-802. doi: 10.1016/j.soc.2016.05.009. PMID: 27591499
Tumors and tumor-like lesions of peripheral nerves.
Woertler K
Semin Musculoskelet Radiol 2010 Nov;14(5):547-58. Epub 2010 Nov 11 doi: 10.1055/s-0030-1268073. PMID: 21072731

Therapy

Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib.
Galvin R, Watson AL, Largaespada DA, Ratner N, Osum S, Moertel CL
Curr Oncol Rep 2021 Mar 15;23(4):45. doi: 10.1007/s11912-021-01032-y. PMID: 33721151
NF1, Neurofibromin and Gene Therapy: Prospects of Next-Generation Therapy.
Cui XW, Ren JY, Gu YH, Li QF, Wang ZC
Curr Gene Ther 2020;20(2):100-108. doi: 10.2174/1566523220666200806111451. PMID: 32767931
Neoadjuvant Chemotherapy in High-Risk Soft Tissue Sarcomas: Final Results of a Randomized Trial From Italian (ISG), Spanish (GEIS), French (FSG), and Polish (PSG) Sarcoma Groups.
Gronchi A, Palmerini E, Quagliuolo V, Martin Broto J, Lopez Pousa A, Grignani G, Brunello A, Blay JY, Tendero O, Diaz Beveridge R, Ferraresi V, Lugowska I, Merlo DF, Fontana V, Marchesi E, Braglia L, Donati DM, Palassini E, Bianchi G, Marrari A, Morosi C, Stacchiotti S, Bagué S, Coindre JM, Dei Tos AP, Picci P, Bruzzi P, Casali PG
J Clin Oncol 2020 Jul 1;38(19):2178-2186. Epub 2020 May 18 doi: 10.1200/JCO.19.03289. PMID: 32421444
Radiation-Induced Malignant Peripheral Nerve Sheath Tumors: A Systematic Review.
Yamanaka R, Hayano A
World Neurosurg 2017 Sep;105:961-970.e8. Epub 2017 Jun 8 doi: 10.1016/j.wneu.2017.06.010. PMID: 28602926
Cancer of the Peripheral Nerve in Neurofibromatosis Type 1.
Staedtke V, Bai RY, Blakeley JO
Neurotherapeutics 2017 Apr;14(2):298-306. doi: 10.1007/s13311-017-0518-y. PMID: 28349408Free PMC Article

Prognosis

Malignant peripheral nerve sheath tumor: models, biology, and translation.
Somatilaka BN, Sadek A, McKay RM, Le LQ
Oncogene 2022 Apr;41(17):2405-2421. Epub 2022 Apr 7 doi: 10.1038/s41388-022-02290-1. PMID: 35393544Free PMC Article
The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior.
Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
Systemic Options for Malignant Peripheral Nerve Sheath Tumors.
Hassan A, Pestana RC, Parkes A
Curr Treat Options Oncol 2021 Feb 27;22(4):33. doi: 10.1007/s11864-021-00830-7. PMID: 33641042
The 2020 WHO Classification: What's New in Soft Tissue Tumor Pathology?
Kallen ME, Hornick JL
Am J Surg Pathol 2021 Jan;45(1):e1-e23. doi: 10.1097/PAS.0000000000001552. PMID: 32796172
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A
Hum Pathol 2017 Sep;67:1-10. Epub 2017 May 24 doi: 10.1016/j.humpath.2017.05.010. PMID: 28551330Free PMC Article

Clinical prediction guides

Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA.
Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium
Cancer Discov 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786. PMID: 36598417Free PMC Article
Cell-free DNA ultra-low-pass whole genome sequencing to distinguish malignant peripheral nerve sheath tumor (MPNST) from its benign precursor lesion: A cross-sectional study.
Szymanski JJ, Sundby RT, Jones PA, Srihari D, Earland N, Harris PK, Feng W, Qaium F, Lei H, Roberts D, Landeau M, Bell J, Huang Y, Hoffman L, Spencer M, Spraker MB, Ding L, Widemann BC, Shern JF, Hirbe AC, Chaudhuri AA
PLoS Med 2021 Aug;18(8):e1003734. Epub 2021 Aug 31 doi: 10.1371/journal.pmed.1003734. PMID: 34464388Free PMC Article
The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior.
Tariq MU, Din NU, Abdul-Ghafar J, Park YK
Diagn Pathol 2021 Apr 20;16(1):32. doi: 10.1186/s13000-021-01095-2. PMID: 33879215Free PMC Article
SWI/SNF complex-deficient soft tissue neoplasms: An update.
Schaefer IM, Hornick JL
Semin Diagn Pathol 2021 May;38(3):222-231. Epub 2020 Jun 5 doi: 10.1053/j.semdp.2020.05.005. PMID: 32646614Free PMC Article
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.
Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A
Hum Pathol 2017 Sep;67:1-10. Epub 2017 May 24 doi: 10.1016/j.humpath.2017.05.010. PMID: 28551330Free PMC Article

Recent systematic reviews

Imaging of non-neurogenic peripheral nerve malignancy-a case series and systematic review.
Luna R, Fayad LM, Rodriguez FJ, Ahlawat S
Skeletal Radiol 2021 Jan;50(1):201-215. Epub 2020 Jul 23 doi: 10.1007/s00256-020-03556-z. PMID: 32699955
Prognosis and risk factors for malignant peripheral nerve sheath tumor: a systematic review and meta-analysis.
Cai Z, Tang X, Liang H, Yang R, Yan T, Guo W
World J Surg Oncol 2020 Sep 30;18(1):257. doi: 10.1186/s12957-020-02036-x. PMID: 32998743Free PMC Article
H3K27 trimethylation loss in malignant peripheral nerve sheath tumor: a systematic review and meta-analysis with diagnostic implications.
Lu VM, Marek T, Gilder HE, Puffer RC, Raghunathan A, Spinner RJ, Daniels DJ
J Neurooncol 2019 Sep;144(3):433-443. Epub 2019 Jul 24 doi: 10.1007/s11060-019-03247-3. PMID: 31342317
Radiation-Induced Malignant Peripheral Nerve Sheath Tumors: A Systematic Review.
Yamanaka R, Hayano A
World Neurosurg 2017 Sep;105:961-970.e8. Epub 2017 Jun 8 doi: 10.1016/j.wneu.2017.06.010. PMID: 28602926
Recurring intracranial malignant peripheral nerve sheath tumor: case report and systematic review of the literature.
van den Munckhof P, Germans MR, Schouten-van Meeteren AY, Oldenburger F, Troost D, Vandertop WP
Neurosurgery 2011 Apr;68(4):E1152-8; discussion E1159. doi: 10.1227/NEU.0b013e31820a1599. PMID: 21242836

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