A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father

Journal of Neuro-Oncology

Volumn 61, Issue 3, 2003, Pages 219-225

  Izycka Swieszewska, Ewa ^a   Debiec Rychter, Maria ^b   Wasag, Bartosz ^a   Wozniak, Agnieszka ^a   Gasecki, Dariusz ^a   Plata Nazar, Katarzyna ^a   Bartkowiak, Jacek ^c   Lasota, Jerzy ^d   Limon, Janusz ^a  

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c MEDICAL UNIVERSITY OF LODZ   (Poland)

^d ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

Author keywords

AT RT tumor; Chromosome 22 LOH; Familial tumors; hSNF5 INI1 gene; Spinal PNET; TP53 mutation

Indexed keywords

ANTINEOPLASTIC AGENT; PARAFFIN;

ARTICLE; BRAIN TUMOR; BRAIN VENTRICLE PERITONEUM SHUNT; CANCER RADIOTHERAPY; CANCER SURGERY; CASE REPORT; CENTRAL NERVOUS SYSTEM TUMOR; CHROMOSOME 22; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DEATH; DISSEMINATED CANCER; EXON; FAMILY; FATALITY; FATHER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MUTATION; GENE PROBE; GENETIC ANALYSIS; GENETIC DIFFERENCE; GENETICS; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; INTRON; LAMINECTOMY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; NEUROECTODERM TUMOR; RHABDOID TUMOR; SINGLE NUCLEOTIDE POLYMORPHISM; TERATOMA; TUMOR RECURRENCE; VERTEBRAL CANAL;

ADULT; BRAIN NEOPLASMS; CERVICAL VERTEBRAE; CHROMOSOMES, HUMAN, PAIR 22; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MENINGEAL NEOPLASMS; NEUROECTODERMAL TUMORS, PRIMITIVE; ONCOGENE PROTEINS; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-BCR; RHABDOID TUMOR; SPINAL CANAL; SPINAL NEOPLASMS; TERATOMA;

EID: 0344406050     PISSN: 0167594X     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022532727436     Document Type: Article

References (30)

1. Fort D, Tonk V, Tomlinson G, Schneider N: Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system: Associated tumors with different histologic, cytogenetic, and molecular findings. Genes Chromosomes Cancer 11: 146-152, 1994
2. Rorke LB, Packer R, Biegel J: Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neuro-Oncol 24: 21-28, 1995
3. Fanburg-Smith J, Hengge M, Hengge M, Smith J, Miettinen M: Extrarenal rhabdoid tumors of soft tissue: A clinicopathologic and immunohistochemical study of 18 cases. Ann Diagn Pathol 2: 351-362, 1998
4. Parham DM, Weeks DA, Beckwith JB: The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. Am J Surg Pathol 18: 1010-1029, 1994
5. Burger PC, Yu I-T, Tihan T, Friedman HS, Strother DR, Kepner JL, Duffner PK, Kun LE, Perlman EJ. Atypical teratoid/rhabdoid tumor of the central nervous system: A highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma. Am J Surg Pathol 22: 1083-1092, 1998
6. Behring B, Bruck W, Goebel H, Behnke J, Pekrun A, Christen HJ, Kretzschmar H: Immunohistochemistry of primary central nervous system malignant rhabdoid tumors: Report of five cases and review of the literature. Acta Neuropathol 91: 578-586, 1996
7. Bhattacharjee MB, Hicks J, Langford L, Dauser R, Srother D, Chintagumpala M, Horowitz M, Cooley L, Vogel H: Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. Ultrastructural Pathol 21: 369-378, 1997
8. Ho DM-T, Hsu C-Y, Wong T-T, Ting L-T, Chaing H: Atypical teratoid/rhabdoid tumor of the central nervous system: A comparative study with primitive neuroectodermal tumor/medulloblastoma. Acta Neuropathol 99: 482-488, 2000
9. Biegel JA, Rorke LB, Packer RJ, Emanuel BS: Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. J Neurosurg 73: 710-714, 1990
10. Biegel JA, Allen CS, Kawasaki K, Shimizu N, Budarf ML, Bell CJ: Narrowing the critical region for a rhabdoid tumor locus in 22q11. Genes Chromosomes Cancer 16: 94-105, 1996
11. Biegel JA, Zhou J-Y, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B: Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59: 74-79, 1999
12. Versteege I, Sevenet N, Lange J, Rousseau-Merck M-F, Ambros P, Handgretinger R, Aurias A, Delattre O: Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394: 206-206, 1998
13. Iz̈ycka-Świeszewska E, Stefanowicz J, Dȩbiec-Rychter M, Rzepko R, Borowska-Lehman J: The case of pPNET within the spinal epidural space. Neuropathology 21: 218-221, 2001
14. Szpak G, Papierz W, Liberski P, Kulczycki J, Kryst-Widźgowska T, Dymecki J: Primitive neuroectodermal tumor (PNET). A case report. Folia Neuropathol 33: 35-40, 1995
15. Ishii N, Hiraga H, Sawamura Y, Shinohe Y, Nagashima K: Alternative EWS-FL11 fusion gene and MIC2 expression in peripheral and central primitive neuroectodermal tumors. Neuropathology 21: 40-44, 2001
16. Bayani J, Zielenska M, Marrano P, Ng Kwan Y, Taylor M, Jay V, Rutka J, Squire J: Molecular cytogenetic analysis of medulloblastoma and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg 93: 437-448, 2000
17. Burnett ME, White EC, Sih S, Von Haken MS, Cogen PH: Chromosome arm 17p deletion analysis reveals molecular genetic heterogenity in supratentorial and infratentorial primitive neuroectodermal tumors of the central nervous system. Cancer Genet Cytogenet 97: 25-31, 1997
18. Zurawel RH, Chiappa SA, Allen C, Raffel C: Sporadic medulloblastoma contains oncogenic β-catenin mutations. Cancer Res 58: 896-899, 1998
19. Bhattacharjee MB, Armstrong DD, Vogel H, Cooley LD: Cytogenetic analysis of 120 primary pediatric brain tumors and literature review. Cancer Genet Cytogenet 97: 39-53, 1997
20. Dockhorn-Dworniczak B, Wolff J, Poremba C, Schafer KL, Ritter J, Gullotta F, Jurgens H, Bocker W: A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome. Eur J Cancer 32A(8): 1359-1365, 1996
21. Kleihus P, Schauble B, Zur Hausen A, Esteve J, Ohgaki H: Tumors associated with p53 germline mutations: A synopsis of 91 families. Am J Pathol 150: 1-13, 1997
22. Orellana C, Martinez F, Hernandez-Marti M, Castela V, Canete A, Prieto F, Badia L: A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father. Cancer Genet Cytogenet 105: 103-108, 1998
23. Reifenberger J, Janssen G, Weber R, Bostrom J, Engelbrecht V, Lichter P, Borchard F, Gobel U, Lenard H, Reinferberger G: Primitive neuroectodermal tumors of the cerebral hemispheres in two siblings with TP53 germline mutation. J Neuropathol Exp Neurol 57: 179-187, 1998
24. Bonnin JM, Rubinstein LJ, Palmer NF, Beckwith JG: The association of embryonal tumors originating in the kidney and in the brain: A report of seven cases. Cancer 54: 2137-2146, 1984
25. Hunter SB, Abbott K, Varma VA, Olson JJ, Barnett DW, James CD: Reliability of differential PCR for the detection of EGFR and MDM2 gene amplification in DNA extracted from FFPE glioma tissue. J Neuropathol Exp Neurol 54: 57-64, 1995
26. Orita M, Suzuki Y, Sekyai T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879, 1989
27. Giangaspero F, Rigobello L, Badiali M, Loda M, Andreini L, Basso G, Zorzi F, Montaldi A: Large-cell Medulloblastomas. A distinct variant with highly aggressive behavior. Am J Surg Pathol 16: 687-693, 1992
28. Kikuchi T, Rempel SA, Rutz H-P, De Tribolet N, Mulligan L, Cavenee WK, Jothy S, Leduy L, Van Meir EG: Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. Cancer Res 53: 957-961, 1993
29. Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O: Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65: 1342-1348, 1999
30. Santibanez Koref MF, Birch JM, Hartley AL, Jones PH, Craft AW, Eden T, Crowther D, Kelsey AM, Harris M: P53 germline mutations in Li-Fraumeni syndrome. Lancet 338: 1490-1491, 1991