SMARCB1 deficiency in tumors from the peripheral nervous system: A link between schwannomas and rhabdoid tumors?

American Journal of Surgical Pathology

Volumn 36, Issue 7, 2012, Pages 964-972

  Rizzo, Daniela ^a,b   Fréneaux, Paul ^b   Brisse, Hervé ^b   Louvrier, Camille ^b   Lequin, Delphine ^c   Nicolas, André ^b   Ranchère, Dominique ^d   Verkarre, Virginie ^e   Jouvet, Anne ^f   Dufour, Christelle ^g   Edan, Christine ^h   Stéphan, Jean Louis ⁱ   Orbach, Daniel ^b   Sarnacki, Sabine ^j   Pierron, Gaëlle ^c   Parfait, Béatrice ^b   Peuchmaur, Michel ^j   Delattre, Olivier ^c,k   Bourdeaut, Franck ^b,k  

^a CATHOLIC UNIVERSITY   (Italy)

^b BEAUJON HOSPITAL   (France)

^c INSTITUT CURIE   (France)

^d CENTRE LÉON BÉRARD   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g INSTITUT GUSTAVE ROUSSY   (France)

^h RENNES UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITÉ JEAN MONNET   (France)

^j UNIVERSITÉ PARIS DESCARTES   (France)

^k INSTITUT CURIE   (France)

more..

Author keywords

NF2; peripheral nervous system; rhabdoid tumors; SMARCB1

Indexed keywords

DNA BINDING PROTEIN; NONHISTONE PROTEIN; SMARCB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TUMOR MARKER;

CHEMISTRY; CHILD; DNA SEQUENCE; FEMALE; FRANCE; GENE DELETION; GENE SILENCING; GENETIC PREDISPOSITION; GENETICS; HEMIZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MIDDLE AGED; NEURILEMOMA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PERIPHERAL NERVE TUMOR; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; REVIEW; RHABDOID TUMOR; TUMOR SUPPRESSOR GENE;

CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; GENE SILENCING; GENES, NEUROFIBROMATOSIS 2; GENETIC PREDISPOSITION TO DISEASE; HEMIZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEURILEMMOMA; PARIS; PERIPHERAL NERVOUS SYSTEM NEOPLASMS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RHABDOID TUMOR; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; TUMOR MARKERS, BIOLOGICAL;

EID: 84863307128     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31825798f1     Document Type: Review

References (46)

1. Allen JC, Judkins AR, Rosenblum MK, et al. Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioma: case study. Neuro Oncol. 2006;8:79-82. (Pubitemid 43154454)
2. Ambros IM, Attarbaschi A, Rumpler S, et al. Neuroblastoma cells provoke Schwann cell proliferation in vitro. Med Pediatr Oncol. 2001;36:163-168.
3. Ballas K, Kontoulis TM, Papavasiliou A, et al. A rare case of malignant triton tumor with pluridirectional differentiation. South Med J. 2009;102:435-437.
4. Beschorner R, Mittelbronn M, Koerbel A, et al. Atypical teratoidrhabdoid tumor spreading along the trigeminal nerve. Pediatr Neurosurg. 2006;42:258-263. (Pubitemid 43787326)
5. Biegel JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006;20:E11.
6. Biegel JA, Zhou JY, Rorke LB, et al. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999;59:74-79. (Pubitemid 29062960)
7. Bourdeaut F, Fréneaux P, Thuille B, et al. hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol. 2007;211:323-330. (Pubitemid 46172708)
8. Bourdeaut F, Ribeiro A, Paris R, et al. In neuroblastic tumours, Schwann cells do not harbour the genetic alterations of neuroblasts but may nevertheless share the same clonal origin. Oncogene. 2008;27:3066-3071. (Pubitemid 351668012)
9. Boyd C, Smith MJ, Kluwe L, et al. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet. 2008;74:358-366.
10. Cai G, Zhu X, Xu Y, et al. Case report of extrarenal rhabdoid tumor of pelvic retroperitoneum molecular profile of angiogenesis and its implication in new treatment strategy. Cancer Biol Ther. 2009;8:417-421.
11. Carter JM, O'Hara C, Dundas G, et al. 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. 2012;36:154-160.
12. Chacko G, Chacko AG, Dunham CP, et al. Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol. 2007;84:217-222. (Pubitemid 47202132)
13. Cheng JX, Tretiakova M, Gong C, et al. Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. Mod Pathol. 2008;21:647-652. (Pubitemid 351744839)
14. Christiaans I, Kenter SB, Brink HC, et al. Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. J Med Genet. 2011;48:93-97.
15. Clark HB, Minesky JJ, Agrawal D, et al. Myelin basic protein and P2 protein are not immunohistochemical markers for Schwann cell neoplasms. A comparative study using antisera to S-100, P2, and myelin basic proteins. Am J Pathol. 1985;121:96-101. (Pubitemid 16232394)
16. Eaton KW, Tooke LS, Wainwright LM, et al. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011;56:7-15.
17. El Kababri M, André N, Carole C, et al. Atypical teratoid rhabdoid tumor in a child with neurofibromatosis 1. Pediatr Blood Cancer. 2006;46:267-268. (Pubitemid 43076084)
18. Garcés-Iñ igo EF, Leung R, Sebire NJ, et al. Extrarenal rhabdoid tumours outside the central nervous system in infancy. Pediatr Radiol. 2009;39:817-822.
19. Gottfried ON, Viskochil DH, Couldwell WT. Neurofibromatosis type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. Neurosurg Focus. 2010;28:E8.
20. Hadfield KD, Newman WG, Bowers NL, et al. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008;45:332-339. (Pubitemid 351839473)
21. Hadfield KD, Smith MJ, Urquhart JE, et al. Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas. Oncogene. 2010;29:6216-6221.
22. Hasselblatt M, Oyen F, Gesk S, et al. Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. J Neuropathol Exp Neurol. 2009;68:1249-1255.
23. Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011;35:e47-e63.
24. Hornick JL, Dal Cin P, Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009;33:542-550.
25. Hulsebos TJ, Kenter SB, Jakobs ME, et al. SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 2010;77:86-91.
26. Hulsebos TJ, Plomp AS, Wolterman RA, et al. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007;80:805-810. (Pubitemid 46564417)
27. Judkins AR. Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. Adv Anat Pathol. 2007;14:335-339. (Pubitemid 47312288)
28. Judkins AR, Mauger J, Ht A, et al. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004;28:644-650. (Pubitemid 38579568)
29. Kleinschmidt-DeMasters BK, Lovell MA, Donson AM, et al. Molecular array analyses of 51 pediatric tumors shows overlap between malignant intracranial ectomesenchymoma and MPNST but not medulloblastoma or atypical teratoid rhabdoid tumor. Acta Neuropathol. 2007;113:695-703. (Pubitemid 46863905)
30. Kohashi K, Oda Y, Yamamoto H, et al. SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. Am J Surg Pathol. 2008;32:1168-1174.
31. Kreiger PA, Judkins AR, Russo PA, et al. Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. Mod Pathol. 2009;22:142-150.
32. Kurtkaya-Yapicier O, Scheithauer BW, Woodruff JM, et al. Schwannoma with rhabdomyoblastic differentiation: a unique variant of malignant triton tumor. Am J Surg Pathol. 2003;27: 848-853. (Pubitemid 36617526)
33. Oda Y, Tsuneyoshi M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int. 2006;56:287-295. (Pubitemid 43725396)
34. Parwani AV, Herawi M, Volmar K, et al. Urothelial carcinoma with rhabdoid features: report of 6 cases. Hum Pathol. 2006;37: 168-172. (Pubitemid 43099836)
35. Patil S, Perry A, Maccollin M, et al. Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol. 2008;18:517-519.
36. Roberts CW, Biegel JA. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009;8:412-416.
37. Rousseau G, Noguchi T. Bourdon V, et al. SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC Neurol. 2011;11:9.
38. Russo P, Biegel JA. SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009;52:312-313.
39. Sestini R, Bacci C, Provenzano A, et al. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosisassociated schwannomas. Hum Mutat. 2008;29:227-231. (Pubitemid 351240594)
40. Strom T, Kleinschmidt-Demasters BK, Donson A, et al. Rare nerve lesions of non-nerve sheath origin: a 17-year retrospective series. Arch Pathol Lab Med. 2009;133:1391-1402.
41. Swensen JJ, Keyser J, Coffin CM, et al. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009;46:68-72.
42. Tuefferd M, De Bondt A, Van Den Wyngaert I, et al. Genome-wide copy number alterations detection in fresh frozen and matched FFPE samples using SNP 6.0 arrays. Genes Chromosomes Cancer. 2008;47:957-964.
43. Upadhyaya M. Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors. Front Biosci. 2011;16:937-951.
44. van den Munckhof P, Christiaans I, Kenter SB, et al. Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri. Neurogenetics. 2012;13:1-7.
45. Versteege I, Sévenet N, Lange J, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature. 1998;394:203-206. (Pubitemid 28325977)
46. Wykoff CC, Lam BL, Brathwaite CD, et al. Atypical teratoid/rhabdoid tumor arising from the third cranial nerve. J Neuroophthalmol. 2008;28:207-211.