{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T22:55:22Z","timestamp":1784847322268,"version":"3.55.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neurofibromatosis 1 (NF1) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality because of complications, especially malignant peripheral nerve sheath tumors (MPNSTs), which mainly develop during adulthood. We evaluated our experience with management of NF1 with MPNSTs by standard chemotherapy with anthracycline and\/or ifosfamide in terms of time to treatment failure and overall survival.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a retrospective review of consecutive patients with NF1 and a diagnosis of MPNSTs between 1993 and 2003 in our referral center for NF1. Prognostic factors were evaluated by univariate analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We evaluated data for 21 patients with grade 1 (n=1), grade 2 (n=8) and grade 3 (n=12) MPNST; 16 presented localized disease and underwent surgery: margins for 6 were tumor-free (including 3 patients with amputation), 2 showed microscopic residual disease and 8 showed macroscopic residual disease. All patients received chemotherapy and 9 radiotherapy. Median time to treatment failure and overall survival were 7.8 and 17 months, respectively. Two patients were still alive at 138 and 167 months. We found no significant relationship between type of chemotherapy and time to treatment failure or overall survival.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>MPNSTs are highly aggressive in NF1. Conventional chemotherapy does not seem to reduce mortality, and its role must be questioned. Recent advances in the molecular biology of MPNSTs may provide new prognostic factors and targeted therapies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/1750-1172-8-127","type":"journal-article","created":{"date-parts":[[2013,8,23]],"date-time":"2013-08-23T12:14:16Z","timestamp":1377260056000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":80,"title":["Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review"],"prefix":"10.1186","volume":"8","author":[{"given":"Ouidad","family":"Zehou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Fabre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Zelek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Sbidian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Ortonne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugeniu","family":"Banu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Wolkenstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Valeyrie-Allanore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,23]]},"reference":[{"issue":"1","key":"626_CR1","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1001\/jama.1997.03550010065042","volume":"278","author":"DH Gutmann","year":"1997","unstructured":"Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D: The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. Jama. 1997, 278 (1): 51-57. 10.1001\/jama.1997.03550010065042.","journal-title":"Jama"},{"issue":"8","key":"626_CR2","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1111\/j.1468-3083.2012.04485.x","volume":"27","author":"O Zehou","year":"2013","unstructured":"Zehou O, Bularca S, Bastuji-Garin S, Ortonne N, Valeyrie-Allanore L, Wolkenstein P, Duong TA:Neurofibromatosis 1 phenotype associated to malignant peripheral nerve sheath tumours: a case-control study. J Eur Acad Dermatol Venereol. 2013, 27 (8): 1044-1047. 10.1111\/j.1468-3083.2012.04485.x.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"2","key":"626_CR3","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/sj.bjc.6603227","volume":"95","author":"L Walker","year":"2006","unstructured":"Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, Baralle D: A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006, 95 (2): 233-238. 10.1038\/sj.bjc.6603227.","journal-title":"Br J Cancer"},{"key":"626_CR4","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/1750-1172-6-18","volume":"6","author":"TA Duong","year":"2011","unstructured":"Duong TA, Sbidian E, Valeyrie-Allanore L, Vialette C, Ferkal S, Hadj-Rabia S, Glorion C, Lyonnet S, Zerah M, Kemlin I, et al.: Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980\u20132006 in France. Orphanet J Rare Dis. 2011, 6: 18-10.1186\/1750-1172-6-18.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"626_CR5","first-page":"197","volume":"36","author":"JM McGaughran","year":"1999","unstructured":"McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, Kingston H, Super M, Harris R, Evans DG: A clinical study of type 1 neurofibromatosis in north west England. J Med Genet. 1999, 36 (3): 197-203.","journal-title":"J Med Genet"},{"issue":"3","key":"626_CR6","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1111\/j.1750-3639.2004.tb00062.x","volume":"14","author":"N Holtkamp","year":"2004","unstructured":"Holtkamp N, Reuss DE, Atallah I, Kuban RJ, Hartmann C, Mautner VF, Frahm S, Friedrich RE, Algermissen B, Pham VA, et al.: Subclassification of nerve sheath tumors by gene expression profiling. Brain Pathol. 2004, 14 (3): 258-264.","journal-title":"Brain Pathol"},{"issue":"5","key":"626_CR7","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1136\/jmg.39.5.311","volume":"39","author":"DG Evans","year":"2002","unstructured":"Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A: Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002, 39 (5): 311-314. 10.1136\/jmg.39.5.311.","journal-title":"J Med Genet"},{"issue":"5","key":"626_CR8","first-page":"1573","volume":"62","author":"RE Ferner","year":"2002","unstructured":"Ferner RE, Gutmann DH: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 2002, 62 (5): 1573-1577.","journal-title":"Cancer Res"},{"issue":"1","key":"626_CR9","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/j.1365-2133.2005.06558.x","volume":"153","author":"L Valeyrie-Allanore","year":"2005","unstructured":"Valeyrie-Allanore L, Ismaili N, Bastuji-Garin S, Zeller J, Wechsler J, Revuz J, Wolkenstein P: Symptoms associated with malignancy of peripheral nerve sheath tumours: a retrospective study of 69 patients with neurofibromatosis 1. Br J Dermatol. 2005, 153 (1): 79-82. 10.1111\/j.1365-2133.2005.06558.x.","journal-title":"Br J Dermatol"},{"issue":"10","key":"626_CR10","doi-asserted-by":"publisher","first-page":"2006","DOI":"10.1002\/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6","volume":"57","author":"BS Ducatman","year":"1986","unstructured":"Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM:Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986, 57 (10): 2006-2021. 10.1002\/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6.","journal-title":"Cancer"},{"issue":"11","key":"626_CR11","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1002\/(SICI)1097-0142(19980601)82:11<2191::AID-CNCR14>3.0.CO;2-P","volume":"82","author":"HP Kourea","year":"1998","unstructured":"Kourea HP, Bilsky MH, Leung DH, Lewis JJ, Woodruff JM: Subdiaphragmatic and intrathoracic paraspinal malignant peripheral nerve sheath tumors: a clinicopathologic study of 25 patients and 26 tumors. Cancer. 1998, 82 (11): 2191-2203. 10.1002\/(SICI)1097-0142(19980601)82:11<2191::AID-CNCR14>3.0.CO;2-P.","journal-title":"Cancer"},{"key":"626_CR12","doi-asserted-by":"publisher","first-page":"756395","DOI":"10.1155\/2009\/756395","volume":"2009","author":"DE Porter","year":"2009","unstructured":"Porter DE, Prasad V, Foster L, Dall GF, Birch R, Grimer RJ: Survival in malignant peripheral nerve sheath tumours: a comparison between sporadic and neurofibromatosis type 1-Associated tumours. Sarcoma. 2009, 2009: 756395.","journal-title":"Sarcoma"},{"issue":"6","key":"626_CR13","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1002\/1097-0142(19900915)66:6<1253::AID-CNCR2820660627>3.0.CO;2-R","volume":"66","author":"RH Hruban","year":"1990","unstructured":"Hruban RH, Shiu MH, Senie RT, Woodruff JM:Malignant peripheral nerve sheath tumors of the buttock and lower extremity. A study of 43 cases. Cancer. 1990, 66 (6): 1253-1265. 10.1002\/1097-0142(19900915)66:6<1253::AID-CNCR2820660627>3.0.CO;2-R.","journal-title":"Cancer"},{"issue":"2","key":"626_CR14","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/S0360-3016(98)00223-5","volume":"42","author":"WW Wong","year":"1998","unstructured":"Wong WW, Hirose T, Scheithauer BW, Schild SE, Gunderson LL: Malignant peripheral nerve sheath tumor: analysis of treatment outcome. Int J Radiat Oncol Biol Phys. 1998, 42 (2): 351-360. 10.1016\/S0360-3016(98)00223-5.","journal-title":"Int J Radiat Oncol Biol Phys"},{"issue":"10","key":"626_CR15","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1002\/1097-0142(19810515)47:10<2503::AID-CNCR2820471033>3.0.CO;2-3","volume":"47","author":"PP Sordillo","year":"1981","unstructured":"Sordillo PP, Helson L, Hajdu SI, Magill GB, Kosloff C, Golbey RB, Beattie EJ: Malignant schwannoma\u2013clinical characteristics, survival, and response to therapy. Cancer. 1981, 47 (10): 2503-2509. 10.1002\/1097-0142(19810515)47:10<2503::AID-CNCR2820471033>3.0.CO;2-3.","journal-title":"Cancer"},{"issue":"Suppl 4","key":"626_CR16","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1093\/annonc\/mdp153","volume":"20","author":"PG Casali","year":"2009","unstructured":"Casali PG, Jost L, Sleijfer S, Verweij J, Blay JY: Soft tissue sarcomas: ESMO clinical recommendations for diagnosis, treatment and follow-up. Ann Oncol. 2009, 20 (Suppl 4): 132-136.","journal-title":"Ann Oncol"},{"issue":"1","key":"626_CR17","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1200\/JCO.1997.15.1.350","volume":"15","author":"L Guillou","year":"1997","unstructured":"Guillou L, Coindre JM, Bonichon F, Nguyen BB, Terrier P, Collin F, Vilain MO, Mandard AM, Le Doussal V, Leroux A, et al.: Comparative study of the National Cancer Institute and French Federation of Cancer Centers Sarcoma Group grading systems in a population of 410 adult patients with soft tissue sarcoma. J Clin Oncol. 1997, 15 (1): 350-362.","journal-title":"J Clin Oncol"},{"issue":"2","key":"626_CR18","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1093\/neuonc\/nos287","volume":"15","author":"M Kolberg","year":"2013","unstructured":"Kolberg M, Holand M, Agesen TH, Brekke HR, Liestol K, Hall KS, Mertens F, Picci P, Smeland S, Lothe RA:Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1. Neuro Oncol. 2013, 15 (2): 135-147. 10.1093\/neuonc\/nos287.","journal-title":"Neuro Oncol"},{"issue":"7","key":"626_CR19","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1053\/ejso.2000.0979","volume":"26","author":"FJ Lejeune","year":"2000","unstructured":"Lejeune FJ, Pujol N, Lienard D, Mosimann F, Raffoul W, Genton A, Guillou L, Landry M, Chassot PG, Chiolero R, et al.: Limb salvage by neoadjuvant isolated perfusion with TNFalpha and melphalan for non-resectable soft tissue sarcoma of the extremities. Eur J Surg Oncol. 2000, 26 (7): 669-678. 10.1053\/ejso.2000.0979.","journal-title":"Eur J Surg Oncol"},{"issue":"7","key":"626_CR20","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1056\/NEJMra041866","volume":"353","author":"MA Clark","year":"2005","unstructured":"Clark MA, Fisher C, Judson I, Thomas JM: Soft-tissue sarcomas in adults. N Engl J Med. 2005, 353 (7): 701-711. 10.1056\/NEJMra041866.","journal-title":"N Engl J Med"},{"issue":"3","key":"626_CR21","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1002\/cncr.23592","volume":"113","author":"N Pervaiz","year":"2008","unstructured":"Pervaiz N, Colterjohn N, Farrokhyar F, Tozer R, Figueredo A, Ghert M: A systematic meta-analysis of randomized controlled trials of adjuvant chemotherapy for localized resectable soft-tissue sarcoma. Cancer. 2008, 113 (3): 573-581. 10.1002\/cncr.23592.","journal-title":"Cancer"},{"issue":"1","key":"626_CR22","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1200\/JCO.1999.17.1.150","volume":"17","author":"M Van Glabbeke","year":"1999","unstructured":"Van Glabbeke M, van Oosterom AT, Oosterhuis JW, Mouridsen H, Crowther D, Somers R, Verweij J, Santoro A, Buesa J, Tursz T: Prognostic factors for the outcome of chemotherapy in advanced soft tissue sarcoma: an analysis of 2,185 patients treated with anthracycline-containing first-line regimens\u2013a European Organization for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group Study. J Clin Oncol. 1999, 17 (1): 150-157.","journal-title":"J Clin Oncol"},{"issue":"8","key":"626_CR23","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1136\/jmedgenet-2012-100978","volume":"49","author":"E Pasmant","year":"2012","unstructured":"Pasmant E, Vidaud M, Vidaud D, Wolkenstein P: Neurofibromatosis type 1: from genotype to phenotype. J Med Genet. 2012, 49 (8): 483-489. 10.1136\/jmedgenet-2012-100978.","journal-title":"J Med Genet"},{"issue":"2","key":"626_CR24","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1097\/WCO.0b013e3280895da8","volume":"20","author":"MJ Lee","year":"2007","unstructured":"Lee MJ, Stephenson DA: Recent developments in neurofibromatosis type 1. Curr Opin Neurol. 2007, 20 (2): 135-141. 10.1097\/WCO.0b013e3280895da8.","journal-title":"Curr Opin Neurol"},{"issue":"1\u20132","key":"626_CR25","doi-asserted-by":"crossref","first-page":"79","DOI":"10.2119\/molmed.2010.00079","volume":"17","author":"E Pasmant","year":"2011","unstructured":"Pasmant E, Masliah-Planchon J, Levy P, Laurendeau I, Ortonne N, Parfait B, Valeyrie-Allanore L, Leroy K, Wolkenstein P, Vidaud M, et al.: Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Mol Med. 2011, 17 (1\u20132): 79-87.","journal-title":"Mol Med"},{"issue":"5","key":"626_CR26","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1158\/1535-7163.MCT-08-1008","volume":"8","author":"CY Zou","year":"2009","unstructured":"Zou CY, Smith KD, Zhu QS, Liu J, McCutcheon IE, Slopis JM, Meric-Bernstam F, Peng Z, Bornmann WG, Mills GB, et al.: Dual targeting of AKT and mammalian target of rapamycin: a potential therapeutic approach for malignant peripheral nerve sheath tumor. Mol Cancer Ther. 2009, 8 (5): 1157-1168. 10.1158\/1535-7163.MCT-08-1008.","journal-title":"Mol Cancer Ther"},{"issue":"2","key":"626_CR27","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1158\/1078-0432.CCR-12-1067","volume":"19","author":"M Endo","year":"2013","unstructured":"Endo M, Yamamoto H, Setsu N, Kohashi K, Takahashi Y, Ishii T, Iida K, Matsumoto Y, Hakozaki M, Aoki M, et al.: Prognostic Significance of AKT\/mTOR and MAPK Pathways and Antitumor Effect of mTOR Inhibitor in NF1-Related and Sporadic Malignant Peripheral Nerve Sheath Tumors. Clin Cancer Res. 2013, 19 (2): 450-461. 10.1158\/1078-0432.CCR-12-1067.","journal-title":"Clin Cancer Res"},{"issue":"6","key":"626_CR28","doi-asserted-by":"publisher","first-page":"1486","DOI":"10.1002\/cncr.26361","volume":"118","author":"M Agulnik","year":"2012","unstructured":"Agulnik M: New developments in mammalian target of rapamycin inhibitors for the treatment of sarcoma. Cancer. 2012, 118 (6): 1486-1497. 10.1002\/cncr.26361.","journal-title":"Cancer"},{"issue":"1","key":"626_CR29","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1172\/JCI60578","volume":"123","author":"WJ Jessen","year":"2013","unstructured":"Jessen WJ, Miller SJ, Jousma E, Wu J, Rizvi TA, Brundage ME, Eaves D, Widemann B, Kim MO, Dombi E, et al.: MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors. J Clin Invest. 2013, 123 (1): 340-347. 10.1172\/JCI60578.","journal-title":"J Clin Invest"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-8-127.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T21:11:35Z","timestamp":1630530695000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-8-127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,23]]},"references-count":29,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["626"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-8-127","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718086292.793482809","asserted-by":"object"}]},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,23]]},"assertion":[{"value":"15 May 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 August 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 August 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"127"}}