Multifocal desmoplastic medulloblastoma in an African-American child with nevoid basal cell carcinoma (Gorlin) syndrome: Case report

Journal of Neurosurgery

Volumn 105 PEDIATRICS, Issue SUPPL. 4, 2006, Pages 315-320

  Smucker, Philip S ^a   Smith, Jodi L ^a,b  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RILEY HOSPITAL FOR CHILDREN   (United States)

Author keywords

Desmoplastic medulloblastoma; Gorlin syndrome; Nevoid basal cell carcinoma syndrome; Pediatric neurosurgery; PTCH; Sonic hedgehog protein

Indexed keywords

PROTEIN PATCHED;

AFRICAN AMERICAN; ANAMNESIS; ARTICLE; BASAL CELL NEVUS SYNDROME; CANCER RADIOTHERAPY; CANCER SUSCEPTIBILITY; CASE REPORT; CLINICAL FEATURE; CRANIOTOMY; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY HISTORY; FOLLOW UP; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LAMINECTOMY; MALE; MEDULLOBLASTOMA; MULTIPLE CANCER; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME; TUMOR DIAGNOSIS; TUMOR LOCALIZATION;

AFRICAN AMERICANS; BASAL CELL NEVUS SYNDROME; BRAIN NEOPLASMS; CEREBELLAR NEOPLASMS; CEREBRAL VENTRICLE NEOPLASMS; CHILD, PRESCHOOL; CRANIAL FOSSA, POSTERIOR; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEDULLOBLASTOMA; MUTATION; NEOPLASMS, MULTIPLE PRIMARY; RECEPTORS, CELL SURFACE;

EID: 33845698333     PISSN: 00223085     EISSN: 00223085     Source Type: Journal    
DOI: 10.3171/jns.2006.105.2.315     Document Type: Article

References (46)

1. Amlashi SFA, Riffaud L, Brassier G, Morandi X: Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer 98:618-624, 2003
2. Anderson DE, Taylor WB, Falls HF, Davidson RT: The nevoid basal cell carcinoma syndrome. Am J Hum Genet 19:12-22, 1967
3. Atahan IL, Yildiz F, Ozyar E, Uzal D, Zorlu F: Basal cell carcinomas developing in a case of medulloblastoma associated with Gorlin's syndrome. Pediatr Hematol Oncol 15:187-191, 1998
4. Bale AE, Yu K: The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 10:757-762, 2001
5. Berman DM, Karhadkar SS, Hallahan AR, Pritchard JI, Eberhart CG, Watkins DN, et al: Medulloblastoma growth inhibition by hedgehog pathway blockade. Science 297:1559-1561, 2002
6. Bialer MG, Gailani MR, McLaughlin JA, Petrikovsky B, Bale AE: Prenatal diagnosis of Gorlin syndrome. Lancet 344:477, 1994
7. Bonifas JM, Bare JW, Kerschmann RL, Master SP, Epstein EH Jr: Parental origin of chromosome 9q22.3-q31 lost in basal cell carcinomas from basal cell nevus syndrome patients. Hum Mol Genet 3:447-448, 1994
8. Carrie C, Lasset C, Blay JY, Négrier S, Bouffet E, Barbet N, et al: Medulloblastoma in adults: survival and prognostic factors. Radiother Oncol 29:301-307, 1993
9. Chatty EM, Earle KM: Medulloblastoma: a report of 201 cases with emphasis on the relationship of histologic variants to survival. Cancer 28:977-983, 1971
10. Cohen MM Jr: Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg 28:216-223, 1999
11. Corcoran RB, Scott MP: A mouse model for medulloblastoma and basal cell nevus syndrome. J Neurooncol 53:307-318, 2001
12. Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG: The gene for the naevoid basal cell carcinoma syndrome acts as a tumor-suppressor gene in medulloblastoma. Br J Cancer 76:141-145, 1997
13. Duffner PK, Horowitz ME, Krischer JP, Friedman HS, Burger PC, Cohen ME, et al: Postoperative chemotherapy and delayed radiation in children less than three years of age with malignant brain tumors. N Engl J Med 328:1725-1731, 1993
14. Esposito SJ, Kast G, Bradrick JP: Basal cell nevus syndrome: a clinical report. J Prosthet Dent 73:405-410, 1995
15. Evans DG, Birch JM, Orton CI: Brain tumors and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin Syndrome. Br J Neurosurg 5:643-646, 1991
16. Evans DG, Farndon PA, Burnell LD, Gattamaneni H, Birch JM: The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64:959-961, 1991
17. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA: Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460-464, 1993
18. Farndon PA, Del Mastro RG, Kilpatrick MW, Evans DRG: Location of gene for Gorlin syndrome. Lancet 339:581-582, 1992
19. Gelabert-González M, Fernández-Villa J: Mutism after posterior fossa surgery. Review of the literature. Clin Neurol Neurosurg 103:111-114, 2001
20. Golitz LE, Norris DA, Luekens CA Jr, Charles DM: Nevoid basal cell carcinoma syndrome. Multiple basal cell carcinomas of the palms after radiation therapy. Arch Dermatol 116:1159-1163, 1980
21. Gorlin RJ: Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med 134:551-552, 1999
22. Gorlin RJ: Nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113-125, 1995
23. Gorlin RJ, Goltz RW: Multiple naevoid basal cell epithelioma, jaw cysts, bifid rib: a syndrome. N Engl J Med 262:908-912, 1960
24. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, et al: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851, 1996
25. Hasenpusch-Theil K, Bataille V, Laehdetie J, Obermayr F, Sampson JR, Frischauf AM: Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Hum Mutat 11:480, 1998
26. Herpers MJ, Budka H: Primitive neuroectodermal tumors including the medulloblastoma: glial differentiation signaled by immunoreactivity for GFAP is restricted to the pure desmoplastic medulloblastoma ("arachnoidal sarcoma of the cerebellum"). Clin Neuropathol 4:12-18, 1985
27. Iwanaga S, Shimoura H, Shimizu M, Numaguchi Y: Gorlin syndrome: unusual manifestations in the sella turcica and the sphenoidal sinus. AJNR Am J Neuroradiol 19:956-958, 1998
28. Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al: Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671, 1996
29. Kantarci M, Ertas U, Alper F, Sutbeyaz Y, Karasen RM, Onbas O: Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst. Neuroradiology 45:390-392, 2003
30. Katsetos CD, Herman MM, Frankfurter A, Gass P, Collins VP, Walker CC, et al: Cerebellar desmoplastic medulloblastomas. A further immunohistochemical characterization of the reticulin-free pale islands. Arch Pathol Lab Med 113:1019-1029, 1989
31. Keeler RF, Binns W: Teratogenic compounds of Veratrum californicum (Durand). V. Comparison of cyclopian effects of steroidal alkaloids from the plant and structurally related compounds from other sources. Teratology 1:5-10, 1968
32. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, Di-Giovanna JJ, et al: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299-308, 1997
33. Korczak JF, Brahim JS, DiGiovanna JJ, Kase RG, Wexler LH, Goldstein AM: Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction. Am J Med Genet 69:309-314, 1997
34. Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L, et al: Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet 55:34-40, 1999
35. Neblett CR, Waltz TA, Anderson DE: Neurological involvement in the nevoid basal cell carcinoma syndrome. J Neurosurg 35:577-584, 1971
36. O'Malley S, Weitman D, Olding M, Sekhar L: Multiple neoplasms following craniospinal irradiation for medulloblastoma in a patient with nevoid basal cell carcinoma syndrome. Case report. J Neurosurg 86:286-288, 1997
37. Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP: Basal cell carcinomas in mice overexpressing sonic hedgehog. Science 276:817-821, 1997
38. Ozturk A, Oguz KK, Tumer C, Balci S: Neuroradiological findings in a mother and daughter with Gorlin syndrome. Clin Dysmorphol 12:145-146, 2003
39. Pramanik P, Sharma MC, Mukhopadhyay P, Singh VP, Sarkar C: A comparative study of classical vs. desmoplastic medulloblastomas. Neurol Ind 51:27-34, 2003
40. Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al: Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282-290, 1994
41. Stavale JN, Souza Cruz JR: Desmoplastic medulloblastoma: histologic factors of prognosis. Arq Neuro-Psiq 51:487-490, 1993
42. Stavrou T, Dubovsky EC, Reaman GH, Goldstein AM, Vezina G: Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome. AJNR Am J Neuroradiol 21:790-794, 2000
43. Takanashi J, Fujii K, Takano H, Sugita K, Kohno Y: Empty sella syndrome in nevoid basal cell carcinoma syndrome. Brain Dev 22:272-274, 2000
44. Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, et al: Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60:21-26, 1997
45. Young JL, Miller RW: Incidence of malignant tumors in US children. J Pediatr 86:254-258, 1975
46. Zedan W, Robinson PA, High AS: A novel pleomorphism in the PTC gene allows easy identification of allelic loss in basal cell nevus syndrome lesions. Diagn Mol Pathol 10:41-45, 2001