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Malignant peripheral nerve sheath tumour (view source)
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{{ Infobox diagnosis | |||
| Name = {{PAGENAME}} | |||
| Image = Malignant_peripheral_nerve_sheath_tumour_-_high_mag.jpg | |||
| Width = | |||
| Caption = MPNST. [[H&E stain]]. | |||
| Micro = spindle cell lesion (or very rarely epithelioid lesion) with nuclear atypia, mitotic activity, +/-[[herring bone pattern]] | |||
| Subtypes = [[malignant triton tumour]] | |||
| LMDDx = [[synovial sarcoma]], [[fibrosarcoma]], cellular [[schwannoma]], plexiform schwannoma | |||
| Stains = | |||
| IHC = | |||
| EM = | |||
| Molecular = | |||
| IF = | |||
| Gross = | |||
| Grossing = | |||
| Site = [[soft tissue lesions|soft tissue]] | |||
| Assdx = [[neurofibroma]], [[plexiform neurofibroma]] | |||
| Syndromes = [[neurofibromatosis type 1]] | |||
| Clinicalhx = | |||
| Signs = mass | |||
| Symptoms = | |||
| Prevalence = | |||
| Bloodwork = | |||
| Rads = | |||
| Endoscopy = | |||
| Prognosis = poor | |||
| Other = | |||
| ClinDDx = | |||
}} | |||
'''Malignant peripheral nerve sheath tumour''', abbreviated '''MPNST''', is an uncommon malignant tumour of the nerve sheath. | |||
It is also known '''neurofibrosarcoma'''<ref name=pmid21317712>{{Cite journal | last1 = Mills | first1 = AM. | last2 = Karamchandani | first2 = JR. | last3 = Vogel | first3 = H. | last4 = Longacre | first4 = TA. | title = Endocervical fibroblastic malignant peripheral nerve sheath tumor (neurofibrosarcoma): report of a novel entity possibly related to endocervical CD34 fibrocytes. | journal = Am J Surg Pathol | volume = 35 | issue = 3 | pages = 404-12 | month = Mar | year = 2011 | doi = 10.1097/PAS.0b013e318208f72e | PMID = 21317712 }}</ref>, '''neurogenic sarcoma'''.<ref name=pmid23139572>{{Cite journal | last1 = Sham | first1 = ME. | last2 = Ghorpade | first2 = A. | last3 = Shetty | first3 = S. | last4 = Hari | first4 = . | last5 = Vinay | first5 = . | title = Malignant peripheral nerve cell tumour. | journal = J Maxillofac Oral Surg | volume = 9 | issue = 1 | pages = 68-71 | month = Mar | year = 2010 | doi = 10.1007/s12663-010-0019-6 | PMID = 23139572 }}</ref> and '''malignant schwannoma''' - these terms are however depreceated.<ref>{WHOCNS2007}</ref> | |||
==General== | |||
*Malignant - as the name implies. | |||
*Usually assoc. with a peripheral nerve.<ref>{WHOCNS2007}</ref> | |||
*May be seen in the context of [[neurofibromatosis type 1]] or radiation induced.<ref>{{Cite journal | last1 = Ducatman | first1 = BS. | last2 = Scheithauer | first2 = BW. | last3 = Piepgras | first3 = DG. | last4 = Reiman | first4 = HM. | last5 = Ilstrup | first5 = DM. | title = Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. | journal = Cancer | volume = 57 | issue = 10 | pages = 2006-21 | month = May | year = 1986 | doi = | PMID = 3082508 }}</ref> | |||
*Approx 50-70% arise from (mostly plexiform) [[neurofibroma]]s. | |||
*Usu. adults | |||
*Approx. 5% of all malignant soft tissue lesions. | |||
<gallery> | |||
File:MPNST.PNG | MPNST in a NF1 case (WC/Filip em). | |||
File:MPNST Pathology gross.jpg | MPNST gross pathology (Flickr/drbloodmoney). | |||
</gallery> | |||
==Microscopic== | |||
Features:<ref>{{Cite journal | last1 = Pekmezci | first1 = M. | last2 = Reuss | first2 = DE. | last3 = Hirbe | first3 = AC. | last4 = Dahiya | first4 = S. | last5 = Gutmann | first5 = DH. | last6 = von Deimling | first6 = A. | last7 = Horvai | first7 = AE. | last8 = Perry | first8 = A. | title = Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas. | journal = Mod Pathol | volume = 28 | issue = 2 | pages = 187-200 | month = Feb | year = 2015 | doi = 10.1038/modpathol.2014.109 | PMID = 25189642 }}</ref> | |||
*Cellular - usu. spindle cells. | |||
**Very rarely epithelioid.<ref name=pmid22082606>{{Cite journal | last1 = Carter | first1 = JM. | last2 = O'Hara | first2 = C. | last3 = Dundas | first3 = G. | last4 = Gilchrist | first4 = D. | last5 = Collins | first5 = MS. | last6 = Eaton | first6 = K. | last7 = Judkins | first7 = AR. | last8 = Biegel | first8 = JA. | last9 = Folpe | first9 = AL. | title = Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with neuroblastoma-like schwannomatosis and a novel germline SMARCB1 mutation. | journal = Am J Surg Pathol | volume = 36 | issue = 1 | pages = 154-60 | month = Jan | year = 2012 | doi = 10.1097/PAS.0b013e3182380802 | PMID = 22082606 }}</ref> | |||
*Nuclear atypia. | |||
*Mitoses. | |||
*+/-Herring bone pattern. | |||
*Perivascular hypercellularity. | |||
*Tumor herniation into vascular lumens. | |||
*"Pseudocapsule" with tumour invasion of adjacent tissue. | |||
Notes: | |||
*May be diagnosed in a poorly diff. tumour if patient has [[NF1]]. | |||
DDx: | |||
*Cellular [[schwannoma]]. | |||
*Plexiform schwannoma. | |||
*[[Malignant triton tumour]]. | |||
**aka. MPNST with mesenchymal differentiation. | |||
DDx of herring bone: | |||
*MPNST. | |||
*[[Synovial sarcoma]]. | |||
*[[Fibrosarcoma]]. | |||
===Images=== | |||
<gallery> | |||
Image:Malignant_peripheral_nerve_sheath_tumour_-_intermed_mag.jpg | MPNST - intermed. mag. (WC) | |||
Image:Malignant_peripheral_nerve_sheath_tumour_-_high_mag.jpg | MPNST - high mag. (WC) | |||
Image:Malignant_peripheral_nerve_sheath_tumour_-_very_high_mag.jpg | MPNST - very high mag. (WC) | |||
File:MPNST chondroid differentiation.jpg | MPNST with chondroid dedifferentiation (Triton tumor). (WC) | |||
</gallery> | |||
www: | |||
*[http://path.upmc.edu/cases/case112/micro.html MPNST - several images (upmc.edu)]. | |||
*[http://path.upmc.edu/cases/case406.html MPNST - case 2 - several images (upmc.edu)]. | |||
===Grading=== | |||
*Can be graded histologically, according WHO<ref name=pmid14508395>{{cite journal |author=Zhou H, Coffin CM, Perkins SL, Tripp SR, Liew M, Viskochil DH |title=Malignant peripheral nerve sheath tumor: a comparison of grade, immunophenotype, and cell cycle/growth activation marker expression in sporadic and neurofibromatosis 1-related lesions |journal=Am. J. Surg. Pathol. |volume=27 |issue=10 |pages=1337–45 |year=2003 |month=October |pmid=14508395 |doi= |url=}}</ref> and this is prognostic.<ref name=pmid16923196>{{cite journal |author=Kar M, Deo SV, Shukla NK, ''et al.'' |title=Malignant peripheral nerve sheath tumors (MPNST)--clinicopathological study and treatment outcome of twenty-four cases |journal=World J Surg Oncol |volume=4 |issue= |pages=55 |year=2006 |pmid=16923196 |pmc=1560134 |doi=10.1186/1477-7819-4-55 |url=}}</ref> | |||
*grade IV: Presence of necrosis (3/4 of all MPNST). | |||
*grade III: Mitotic count exceeds 4/1 HPF. | |||
*grade II: nuclear size (<3x of neurofibroma cell), hyperchromatic nuclei. | |||
**overlap with cellular ("atypical") neurofibroma (DDx). | |||
Sarcoma grading system<ref name=pmid6693192>{{cite journal |author=Trojani M, Contesso G, Coindre JM, ''et al.'' |title=Soft-tissue sarcomas of adults; study of pathological prognostic variables and definition of a histopathological grading system |journal=Int. J. Cancer |volume=33 |issue=1 |pages=37–42 |year=1984 |month=January |pmid=6693192 |doi= |url=}}</ref> - based on: | |||
*Tumour differentiation. | |||
*Mitotic rate. | |||
*[[Necrosis]]. | |||
==IHC== | |||
Features:<ref name=pmid18636017>{{cite journal |author=Nonaka D, Chiriboga L, Rubin BP |title=Sox10: a pan-schwannian and melanocytic marker |journal=Am. J. Surg. Pathol. |volume=32 |issue=9 |pages=1291–8 |year=2008 |month=September |pmid=18636017 |doi=10.1097/PAS.0b013e3181658c14 |url=}}</ref> | |||
*S-100 +ve ~ 30% of tumours. | |||
*SOX10 +ve ~ 50% of tumours. | |||
*Neurofibromin (NFC) -ve (88% in NF1, 43% sporadic MPNST)<ref>{{Cite journal | last1 = Reuss | first1 = DE. | last2 = Habel | first2 = A. | last3 = Hagenlocher | first3 = C. | last4 = Mucha | first4 = J. | last5 = Ackermann | first5 = U. | last6 = Tessmer | first6 = C. | last7 = Meyer | first7 = J. | last8 = Capper | first8 = D. | last9 = Moldenhauer | first9 = G. | title = Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms. | journal = Acta Neuropathol | volume = 127 | issue = 4 | pages = 565-72 | month = Apr | year = 2014 | doi = 10.1007/s00401-014-1246-6 | PMID = 24464231 }}</ref> | |||
*H3K27me -ve<ref>{{Cite journal | last1 = Schaefer | first1 = IM. | last2 = Fletcher | first2 = CD. | last3 = Hornick | first3 = JL. | title = Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. | journal = Mod Pathol | volume = 29 | issue = 1 | pages = 4-13 | month = Jan | year = 2016 | doi = 10.1038/modpathol.2015.134 | PMID = 26585554 }}</ref> | |||
*MIB-1 ≥20% is highly predictive of malignant peripheral nerve sheath tumor (87% sensitivity and 96% specificity).<ref>{{Cite journal | last1 = Pekmezci | first1 = M. | last2 = Reuss | first2 = DE. | last3 = Hirbe | first3 = AC. | last4 = Dahiya | first4 = S. | last5 = Gutmann | first5 = DH. | last6 = von Deimling | first6 = A. | last7 = Horvai | first7 = AE. | last8 = Perry | first8 = A. | title = Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas. | journal = Mod Pathol | volume = 28 | issue = 2 | pages = 187-200 | month = Feb | year = 2015 | doi = 10.1038/modpathol.2014.109 | PMID = 25189642 }}</ref> | |||
Others:<ref name=pmid14508395>{{cite journal |author=Zhou H, Coffin CM, Perkins SL, Tripp SR, Liew M, Viskochil DH |title=Malignant peripheral nerve sheath tumor: a comparison of grade, immunophenotype, and cell cycle/growth activation marker expression in sporadic and neurofibromatosis 1-related lesions |journal=Am. J. Surg. Pathol. |volume=27 |issue=10 |pages=1337–45 |year=2003 |month=October |pmid=14508395 |doi= |url=}}</ref> | |||
*p53. | |||
*p16 -ve.<ref>{{Cite journal | last1 = Pekmezci | first1 = M. | last2 = Reuss | first2 = DE. | last3 = Hirbe | first3 = AC. | last4 = Dahiya | first4 = S. | last5 = Gutmann | first5 = DH. | last6 = von Deimling | first6 = A. | last7 = Horvai | first7 = AE. | last8 = Perry | first8 = A. | title = Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas. | journal = Mod Pathol | volume = 28 | issue = 2 | pages = 187-200 | month = Feb | year = 2015 | doi = 10.1038/modpathol.2014.109 | PMID = 25189642 }}</ref> | |||
*p27. | |||
*p75NTR +ve (80%). | |||
*EGFR +ve <ref> {{Cite journal | last1 = Pekmezci | first1 = M. | last2 = Reuss | first2 = DE. | last3 = Hirbe | first3 = AC. | last4 = Dahiya | first4 = S. | last5 = Gutmann | first5 = DH. | last6 = von Deimling | first6 = A. | last7 = Horvai | first7 = AE. | last8 = Perry | first8 = A. | title = Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas. | journal = Mod Pathol | volume = 28 | issue = 2 | pages = 187-200 | month = Feb | year = 2015 | doi = 10.1038/modpathol.2014.109 | PMID = 25189642 }}</ref> | |||
==Molecular== | |||
Features:<ref>{{Cite journal | last1 = Röhrich | first1 = M. | last2 = Koelsche | first2 = C. | last3 = Schrimpf | first3 = D. | last4 = Capper | first4 = D. | last5 = Sahm | first5 = F. | last6 = Kratz | first6 = A. | last7 = Reuss | first7 = J. | last8 = Hovestadt | first8 = V. | last9 = Jones | first9 = DT. | title = Methylation-based classification of benign and malignant peripheral nerve sheath tumors. | journal = Acta Neuropathol | volume = | issue = | pages = | month = Feb | year = 2016 | doi = 10.1007/s00401-016-1540-6 | PMID = 26857854 }}</ref><ref>{{Cite journal | last1 = Hirbe | first1 = AC. | last2 = Dahiya | first2 = S. | last3 = Miller | first3 = CA. | last4 = Li | first4 = T. | last5 = Fulton | first5 = RS. | last6 = Zhang | first6 = X. | last7 = McDonald | first7 = S. | last8 = DeSchryver | first8 = K. | last9 = Duncavage | first9 = EJ. | title = Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma. | journal = Clin Cancer Res | volume = 21 | issue = 18 | pages = 4201-11 | month = Sep | year = 2015 | doi = 10.1158/1078-0432.CCR-14-3049 | PMID = 25925892 }}</ref> | |||
* Atypical neurofibromas and low-grade MPNST have a common methylation profile and frequent losses of CDKN2A. | |||
* A subset of MPNST show loss of trimethylation of histone H3 at lysine 27 (H3K27me3). | |||
* P53 and beta-spectrin mutations during progression reported. | |||
==See also== | |||
*[[Peripheral nerve sheath tumours]]. | |||
==References== | |||
{{Reflist|2}} | |||
[[Category:Diagnosis]] | [[Category:Diagnosis]] | ||
[[Category:Peripheral nerve sheath tumours]] | |||