Prikaz slučaja malignog tumora nervnog omotača lijeve butine i poplitealne jame sa diseminacijom pluća, slezine i mozga i veza sa neurofibromatozom tip 1
Sažetak
Maligni tumor omotača perifernih nerava je visoko agresivni sarkom. Pleksiformni neurofibromi se javljaju kod oboljelih od neurofibromatoze tip 1, što je čest genski poremećaj. U radu je prikazan pacijent sa tipičnim manifestacijama malignog tumora omotača perifernih nerava, u obliku velikog tumora primarne lokalizacije u distalnom dijelu lijeve natkoljenice i lijeve poplitealne jame, te sa značajnom diseminacijom u plućni parenhim, što je bilo praćeno respiratornom ugroženošću. Operacija nemalignog oblika navedenog tumora provedena je četiri godine ranije nakon čega nije dolazio na kontrole. Provedeno je devet cikusa hemoterapije po protokolu Doksorubicin/Ifosfamid/Mesna uz kliničko poboljšanje i stabilizaciju, ali bez značajnijeg uticaja na dinamiku bolesti, te je ukupno preživljavanje iznosilo 14 mjeseci. Važno je rano prepoznavanje kliničke slike malignog oblika ovoga tumora i aktivan nadzor, stručnih lica ili u centrima za rijetke tumore, pacijenta sa benignim oblikom. Na taj način, moguće je blagovremeno primjeniti optimalni modalitet liječenja.
Reference
Kumar V, Abbas A, Aster J, editors. Robbins Basic Pathology. Philadelphia: Elsevier, 2018.
Pinson S, Wolkenstein P. [Neurofibromatosis type 1 or Von Recklinghausen's disease]. Rev Med Interne. 2005 Mar; 26(3):196-215. French-
Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014 Aug;13(8):834-43.
Zhou H, Coffin CM, Perkins SL, Tripp SR, Liew M, Viskochil DH. Malignant peripheral nerve sheath tumor: a comparison of grade, immunophenotype, and cell cycle/growth activation marker expression in sporadic and neurofibromatosis 1-related lesions. Am J Surg Pathol 2003 Oct;27(10):1337-45.
Goldblum JR, Weiss SW, Folpe AL. Enzinger and Weiss's Soft Tissue Tumors, Seventh Edition. Philadelphia: Elsevier, 2019.
Stucky CC, Johnson KN, Gray RJ, Pockaj BA, Ocal IT, Rose PS, et al. Malignant peripheral nerve sheath tumors (MPNST): the Mayo Clinic experience. Ann Surg Oncol 2012 Mar;19(3):878-85.
Campanacci M. Bone and soft tissue tumors. Clinical features, imaging, pathology and treatment. Wien: Springer Verlag, 1999.
Korf BR. Malignancy in neurofibromatosis type 1. Oncologist 2000;5(6):477-85.
Vasconcelos RAT, Coscarelli PG, Alvarenga RP, Acioly MA. Malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1. Arq Neuropsiquiatr 2017 Jun;75(6):366-71.
Martin E, Coert JH, Flucke UE, Slooff WM, Ho VKY, van der Graaf WT, et al. A nationwide cohort study on treatment and survival in patients with malignant peripheral nerve sheath tumours. Eur J Cancer 2020 Jan;124:77-87.
James AW, Shurell E, Singh A, Dry SM, Eilber FC. Malignant peripheral nerve sheath tumor. Surg Oncol Clin N Am 2016 Oct;25(4):789-802.
Valentin T, Le Cesne A, Ray-Coquard I, Italiano A, Decanter G, Bompas E, et al. Management and prognosis of malignant peripheral nerve sheath tumors: The experience of the French Sarcoma Group (GSF-GETO). Eur J Cancer 2016 Mar;56:77-84.
Bradford D, Kim A. Current treatment options for malignant peripheral nerve sheath tumors. Curr Treat Options Oncol 2015 Mar;16(3):328. doi: 10.1007/s11864-015-0328-6.
Widemann BC, Lu Y, Reinke D, Okuno SH, Meyer CF, Cote GM, et al. Targeting sporadic and neurofibromatosis type 1 (NF1) related refractory malignant peripheral nerve sheath tumors (MPNST) in a Phase II Study of Everolimus in Combination with Bevacizumab (SARC016). Sarcoma 2019 Jul 24;2019:7656747. doi: 10.1155/2019/7656747.
Kim A, Lu Y, Okuno SH, Reinke D, Maertens O, Perentesis J, et al. Targeting refractory sarcomas and malignant peripheral nerve sheath tumors in a phase I/II Study of Sirolimus in combination with Ganetespib (SARC023). Sarcoma 2020 Jan 30;2020:5784876. doi: 10.1155/2020/5784876.
Mukhopadhyay S, Maitra A, Choudhury S. Selumetinib: the first ever approved drug for neurofibromatosis-1 related inoperable plexiform neurofibroma. Curr Med Res Opin 2021 May;37(5):789-94.
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).