Difference between revisions of "Malignant peripheral nerve sheath tumour"

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'''Malignant peripheral nerve sheath tumour''', abbreviated '''MPNST''', is an uncommon malignant tumour of the nerve sheath.
'''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> and '''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>
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==
==General==
*Malignant - as the name implies.
*Malignant - as the name implies.
*Usually assoc. with a peripheral nerve.{{Fact}}
*Usually assoc. with a peripheral nerve.<ref>{WHOCNS2007}</ref>
*May be seen in the context of [[neurofibromatosis type 1]].
*May be seen in the context of [[neurofibromatosis type 1]].


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==Molecular==
==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>
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.
* 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).
* 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==
==See also==
*[[Peripheral nerve sheath tumours]].
*[[Peripheral nerve sheath tumours]].

Revision as of 08:12, 9 May 2016

Malignant peripheral nerve sheath tumour
Diagnosis in short

MPNST. H&E stain.
LM spindle cell lesion (or very rarely epithelioid lesion) with nuclear atypia, mitotic activity, +/-herring bone pattern
Subtypes malignant triton tumour
LM DDx synovial sarcoma, fibrosarcoma, cellular schwannoma, plexiform schwannoma
Site soft tissue
Associated Dx neurofibroma, plexiform neurofibroma
Syndromes neurofibromatosis type 1
Signs mass
Prognosis poor

Malignant peripheral nerve sheath tumour, abbreviated MPNST, is an uncommon malignant tumour of the nerve sheath.

It is also known neurofibrosarcoma[1], neurogenic sarcoma.[2] and malignant schwannoma - these terms are however depreceated.[3]

General

  • MPNST in a NF1 case (WC/Filip em).

  • MPNST gross pathology (Flickr/drbloodmoney).

Microscopic

Features:[5]

  • Cellular - usu. spindle cells.
    • Very rarely epithelioid.[6]
  • Nuclear atypia.
  • Mitoses.
  • +/-Herring bone pattern.
  • Perivascular hypercellularity
  • Tumor herniation into vascular lumens

Notes:

  • May be diagnosed in a poorly diff. tumour if patient has NF1.

DDx:

DDx of herring bone:

Images

  • MPNST - intermed. mag. (WC)

  • MPNST - high mag. (WC)

  • MPNST - very high mag. (WC)

  • MPNST with chondroid dedifferentiation (Triton tumor). (WC)

www:

Grading

  • Can be graded histologically,[7] and this is prognostic.[8]

Sarcoma grading system[9] - based on:

  • Tumour differentiation.
  • Mitotic rate.
  • Necrosis.

IHC

Features:[10]

  • S-100 +ve ~ 30% of tumours.
  • SOX10 +ve ~ 50% of tumours.
  • Neurofibromin (NFC) -ve (88% in NF1, 43% sporadic MPNST)[11]
  • MIB-1 ≥20% is highly predictive of malignant peripheral nerve sheath tumor (87% sensitivity and 96% specificity).[12]


Others:[7]

  • p53.
  • p16 -ve.
  • p27.
  • p75NTR +ve (80%).

Molecular

Features:[13][14]

  • 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

References

  1. ↑ Mills, AM.; Karamchandani, JR.; Vogel, H.; Longacre, TA. (Mar 2011). "Endocervical fibroblastic malignant peripheral nerve sheath tumor (neurofibrosarcoma): report of a novel entity possibly related to endocervical CD34 fibrocytes.". Am J Surg Pathol 35 (3): 404-12. doi:10.1097/PAS.0b013e318208f72e. PMID 21317712.
  2. ↑ Sham, ME.; Ghorpade, A.; Shetty, S.; Hari, .; Vinay, . (Mar 2010). "Malignant peripheral nerve cell tumour.". J Maxillofac Oral Surg 9 (1): 68-71. doi:10.1007/s12663-010-0019-6. PMID 23139572.
  3. ↑ {WHOCNS2007}
  4. ↑ {WHOCNS2007}
  5. ↑ Pekmezci, M.; Reuss, DE.; Hirbe, AC.; Dahiya, S.; Gutmann, DH.; von Deimling, A.; Horvai, AE.; Perry, A. (Feb 2015). "Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas.". Mod Pathol 28 (2): 187-200. doi:10.1038/modpathol.2014.109. PMID 25189642.
  6. ↑ Carter, JM.; O'Hara, C.; Dundas, G.; Gilchrist, D.; Collins, MS.; Eaton, K.; Judkins, AR.; Biegel, JA. et al. (Jan 2012). "Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with neuroblastoma-like schwannomatosis and a novel germline SMARCB1 mutation.". Am J Surg Pathol 36 (1): 154-60. doi:10.1097/PAS.0b013e3182380802. PMID 22082606.
  7. ↑ 7.0 7.1 Zhou H, Coffin CM, Perkins SL, Tripp SR, Liew M, Viskochil DH (October 2003). "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. 27 (10): 1337–45. PMID 14508395.
  8. ↑ Kar M, Deo SV, Shukla NK, et al. (2006). "Malignant peripheral nerve sheath tumors (MPNST)--clinicopathological study and treatment outcome of twenty-four cases". World J Surg Oncol 4: 55. doi:10.1186/1477-7819-4-55. PMC 1560134. PMID 16923196. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1560134/.
  9. ↑ Trojani M, Contesso G, Coindre JM, et al. (January 1984). "Soft-tissue sarcomas of adults; study of pathological prognostic variables and definition of a histopathological grading system". Int. J. Cancer 33 (1): 37–42. PMID 6693192.
  10. ↑ Nonaka D, Chiriboga L, Rubin BP (September 2008). "Sox10: a pan-schwannian and melanocytic marker". Am. J. Surg. Pathol. 32 (9): 1291–8. doi:10.1097/PAS.0b013e3181658c14. PMID 18636017.
  11. ↑ Reuss, DE.; Habel, A.; Hagenlocher, C.; Mucha, J.; Ackermann, U.; Tessmer, C.; Meyer, J.; Capper, D. et al. (Apr 2014). "Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms.". Acta Neuropathol 127 (4): 565-72. doi:10.1007/s00401-014-1246-6. PMID 24464231.
  12. ↑ Pekmezci, M.; Reuss, DE.; Hirbe, AC.; Dahiya, S.; Gutmann, DH.; von Deimling, A.; Horvai, AE.; Perry, A. (Feb 2015). "Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas.". Mod Pathol 28 (2): 187-200. doi:10.1038/modpathol.2014.109. PMID 25189642.
  13. ↑ Röhrich, M.; Koelsche, C.; Schrimpf, D.; Capper, D.; Sahm, F.; Kratz, A.; Reuss, J.; Hovestadt, V. et al. (Feb 2016). "Methylation-based classification of benign and malignant peripheral nerve sheath tumors.". Acta Neuropathol. doi:10.1007/s00401-016-1540-6. PMID 26857854.
  14. ↑ Hirbe, AC.; Dahiya, S.; Miller, CA.; Li, T.; Fulton, RS.; Zhang, X.; McDonald, S.; DeSchryver, K. et al. (Sep 2015). "Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma.". Clin Cancer Res 21 (18): 4201-11. doi:10.1158/1078-0432.CCR-14-3049. PMID 25925892.
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