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A Unique Occurrence of a Cerebral Atypical Teratoid/Rhabdoid Tumor in an Infant and a Spinal Canal Primitive Neuroectodermal Tumor in her Father

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Abstract

This report describes the clinical, pathological, immunohistochemical and genetic data of two rare malignant neoplasms of the central nervous system (CNS) – a cerebral atypical teratoid/rhabdoid tumor (AT/RT) in a 5-month-old girl and a spinal canal primitive neuroectodermal tumor (PNET) in her father. Despite aggressive treatment, both tumors were fatal, displaying extensive local recurrence and diffuse neoplastic dissemination. The paraffin-embedded tumor tissue samples were analyzed using a dual-color FISH with a locus specific LSI22q (BCR) probe. In the AT/RT tissue, a loss of BCR locus was observed in a significant proportion of the cells in contrast to the PNET specimen where the majority of nuclei did not reveal any loss of the BCR region. No mutations in exon 5 and no changes in SNP of intron 5 of hSNF/INI1 gene were found. In addition, analysis of loss of heterozygosity (LOH) was performed using a panel of 15 microsatellite markers of chromosome 22. No LOH were found in both tumor tissues. In both cases no constitutional mutations of gene TP53 were found. Analysis of the TP53 mutations in the tumor tissues revealed that the PNET, not the AT/RT tumor, was homozygous for a missense mutation at codon 175 (CGC ⇒ CAC). Thus, our findings emphasize the genetic differences between the two specimens and suggest that the occurrence of these two aggressive tumors of CNS in one family could be coincidental.

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References

  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

    Google Scholar 

  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

    Google Scholar 

  3. Fanburg-Smith J, Hengge M, Hengge U, 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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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: 203–206, 1998

    Google Scholar 

  13. I?ycka-?wieszewska E, Stefanowicz J, D?biec-Rychter M, Rzepko R, Borowska-Lehman J: The case of pPNET within the spinal epidural space. Neuropathology 21: 218–221, 2001

    Google Scholar 

  14. Szpak G, Papierz W, Liberski P, Kulczycki J, Kryst-Wid?gowska T, Dymecki J: Primitive neuroectodermal tumor (PNET). A case report. Folia Neuropathol 33: 35–40, 1995

    Google Scholar 

  15. Ishii N, Hiraga H, Sawamura Y, Shinohe Y, Nagashima K: Alternative EWS-FLI1 fusion gene and MIC2 expression in peripheral and central primitive neuroectodermal tumors. Neuropathology 21: 40–44, 2001

    Google Scholar 

  16. Bayani J, Zielenska M, Marrano P, Ng Kwan Y, Taylor M, Jay V, Rutka J, Squire J: Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping. J Neurosurg 93: 437–448, 2000

    Google Scholar 

  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

    Google Scholar 

  18. Zurawel RH, Chiappa SA, Allen C, Raffel C: Sporadic medulloblastomas contains oncogenic ?-catenin mutations. Cancer Res 58: 896–899, 1998

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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 TP3 germline mutation. J Neuropathol Exp Neurol 57: 179–187, 1998

    Google Scholar 

  24. Bonnin JM, Rubinstein LJ, Palmer NF, Beckwith JB: The association of embryonal tumors originating in the kidney and in the brain: a report of seven cases. Cancer 54: 2137–2146, 1984

    Google Scholar 

  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

    Google Scholar 

  26. Orita M, Suzuki Y, Sekyia T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874–879, 1989

    Google Scholar 

  27. Giangaspero F, Rigobello L, Badiali M, Loda M, Andreini L, Basso G, Zorzi F, Montaldi A: Largecell Medulloblastomas. A distinct variant with highly aggressive behavior. Am J Surg Pathol 16: 687–693, 1992

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

  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

    Google Scholar 

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Authors and Affiliations

  1. Department of Pathology, Medical University of Gdansk, Poland

    Ewa Izycka-Swieszewska

  2. Center of Human Genetics, Katholieke Universiteit, Leuven, Belgium

    Maria Debiec-Rychter

  3. Department of Biology and Genetics, Medical University of Gdansk, Poland

    Bartosz Wasag, Agnieszka Wozniak & Janusz Limon

  4. Department of Neurology, Medical University of Gdansk, Poland

    Dariusz Gasecki

  5. Department of Paediatrics, Medical University of Gdansk, Poland

    Katarzyna Plata-Nazar

  6. Department of Biochemistry, Medical University of Lodz, Poland

    Jacek Bartkowiak

  7. Department of Soft Tissue Pathology AFIP, Washington DC, USA

    Jerzy Lasota

Authors
  1. Ewa Izycka-Swieszewska
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  2. Maria Debiec-Rychter
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Izycka-Swieszewska, E., Debiec-Rychter, M., Wasag, B. et al. A Unique Occurrence of a Cerebral Atypical Teratoid/Rhabdoid Tumor in an Infant and a Spinal Canal Primitive Neuroectodermal Tumor in her Father. J Neurooncol 61, 219–225 (2003). https://doi.org/10.1023/A:1022532727436

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