Human Pathology
Volume 41, Issue 2 , Pages 232-238 , February 2010

Isochromosome 12p and polysomy 12 in primary central nervous system germ cell tumors: frequency and association with clinicopathologic features

  • William R. Sukov, MD

      Affiliations

    • Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
  • ,
  • John C. Cheville, MD

      Affiliations

    • Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    • Contributed equally as senior authors.
  • ,
  • Caterina Giannini, MD

      Affiliations

    • Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
  • ,
  • Austin W. Carlson, BS

      Affiliations

    • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
  • ,
  • Brandon M. Shearer, BA

      Affiliations

    • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
  • ,
  • Jason P. Sinnwell, MS

      Affiliations

    • Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
  • ,
  • Rhett P. Ketterling, MD

      Affiliations

    • Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
    • Corresponding Author InformationCorresponding author.
    • Contributed equally as senior authors.

Received 2 April 2009 ,Revised 19 July 2009 ,Accepted 22 July 2009.

References 

  1. Rosenblum MK, Nakazato Y, Matsutani M. Germ cell tumors. In:  Louis DN,  Ohgaki H,  Wiestler OD,  Cavenee WK editor. World Health Organization classification of tumours. Pathology and genetics of tumours of the central nervous system. Lyon (France): IARC Press; 2007;p. 197–204
  2. Burger PC, Scheithauer BW. In: AFIP Atlas of tumor pathology: tumors of the central nervous system. Washington, DC: ARP Press; 2007;p. 321–328
  3. Rodriguez E, Mathew S, Mukherjee AB, Reuter VE, Bosl GJ, Chaganti RS. Analysis of chromosome 12 aneuploidy in interphase cells from human male germ cell tumors by fluorescence in situ hybridization. Genes Chromosomes Cancer. 1992;5:21–29
  4. Samaniego F, Rodriguez E, Houldsworth J, et al. Cytogenetic and molecular analysis of human male germ cell tumors: chromosome 12 abnormalities and gene amplification. Genes Chromosomes Cancer. 1990;1:289–300
  5. Bosl GJ, Dmitrovsky E, Reuter VE, et al. Isochromosome of the short arm of chromosome 12: clinically useful markers for male germ cell tumors. J Natl Cancer Inst. 1989;81:1874–1878
  6. Korn WM, Oide Weghuis DE, Suijkerbuijk RF, et al. Detection of chromosomal DNA gains and losses in testicular germ cell tumors by comparative genomic hybridization. Genes Chromosomes Cancer. 1996;17:78–87
  7. Suijkerbuijk RF, Looijenga L, de Jong B, Oosterhuis JW, Cassiman JJ, Geurts van Kessel A. Verification of isochromosome 12p and identification of other chromosome 12 aberrations in gonadal and extragonadal human germ cell tumors by bicolor double fluorescence in situ hybridization. Cancer Genet Cytogenet. 1992;63:8–16
  8. Henegariu O, Vance GH, Heiber D, Pera M, Heerema NA. Triple-color FISH analysis of 12p amplification in testicular germ-cell tumors using 12p band-specific painting probes. J Mol Med. 1998;76:648–655
  9. van Echten J, Oosterhuis JW, Looijenga LH, et al. No recurrent structural abnormalities apart from i(12p) in primary germ cell tumors of the adult testis. Genes Chromosomes Cancer. 1995;14:133–144
  10. Schneider DT, Schuster AE, Fritsch MK, et al. Genetic analysis of mediastinal nonseminomatous germ cell tumors in children and adolescents. Genes Chromosomes Cancer. 2002;34:115–125
  11. Cossu-Rocca P, Zhang S, Roth LM, et al. Chromosome 12p abnormalities in dysgerminoma of the ovary: a FISH analysis. Mod Pathol. 2006;19:611–615
  12. Poulos C, Cheng L, Zhang S, Gersell DJ, Ulbright TM. Analysis of ovarian teratomas for isochromosome 12p: evidence supporting a dual histogenetic pathway for teratomatous elements. Mod Pathol. 2006;19:766–771
  13. Blough RI, Heerema NA, Ulbright TM, Smolarek TA, Roth LM, Einhorn LH. Interphase chromosome painting of paraffin-embedded tissue in the differential diagnosis of possible germ cell tumors. Mod Pathol. 1998;11:634–641
  14. Bussey KJ, Lawce HJ, Olson SB, et al. Chromosome abnormalities of eighty-one pediatric germ cell tumors: sex-, age-, site-, and histopathology-related differences—a Children's Cancer Group study. Genes Chromosomes Cancer. 1999;25:134–146
  15. Kernek KM, Brunelli M, Ulbright TM, et al. Fluorescence in situ hybridization analysis of chromosome 12p in paraffin-embedded tissue is useful for establishing germ cell origin of metastatic tumors. Mod Pathol. 2004;17:1309–1313
  16. Sung MT, Maclennan GT, Lopez-Beltran A, Zhang S, Montironi R, Cheng L. Primary mediastinal seminoma: a comprehensive assessment integrated with histology, immunohistochemistry, and fluorescence in situ hybridization for chromosome 12p abnormalities in 23 cases. Am J Surg Pathol. 2008;32:146–155
  17. Lemos JAR, Barbieri-Neto J, Casartelli C. Primary intracranial germ cell tumors without an isochromosome 12p. Cancer Genet Cytogenet. 1998;100:124–128
  18. Okada Y, Nishikawa R, Matsutani M, Louis DN. Hypomethylated X chromosome gain and rare isochromosome 12p in diverse intracranial germ cell tumors. J Neuropathol Exp Neurol. 2002;61:531–538
  19. Dal Cin P, Dei Tos AP, Qi H, et al. Immature teratoma of the pineal gland with isochromosome 12p. Acta Neuropathol. 1998;95:107–110
  20. Rickert CH, Simon R, Bergmann M, Dockhorn-Dworniczak B, Paulus W. Comparative genomic hybridization in pineal germ cell tumors. J Neuropathol Exp Neurol. 2000;59:815–821
  21. Shen V, Chaparro M, Choi BH, Young R, Bernstein R. Absence of isochromosome 12p in a pineal region malignant germ cell tumor. Cancer Genet Cytogenet. 1990;50:153–160
  22. Albrecht S, Armstrong DL, Mahoney DH, Cheek WR, Cooley LD. Cytogenetic demonstration of gene amplification in a primary intracranial germ cell tumor. Genes Chromosomes Cancer. 1993;6:61–63
  23. Schneider DT, Zahn S, Sievers S, et al. Molecular genetic analysis of central nervous system germ cell tumors with comparative genomic hybridization. Mod Pathol. 2006;19:864–873
  24. Prall JA, McGavran L, Greffe BS, et al. Intracranial malignant germ cell tumor and the Klinefelter syndrome. Case report and review of the literature. Pediatr Neurosurg. 1995;23:219–224
  25. Hashimoto M, Hatasa M, Shinoda S, et al. Medulla oblongata germinoma in association with Klinefelter syndrome. Surg Neurol. 1992;37:384–387
  26. Losi L, Polito P, Hagemeijer A, et al. Intracranial germ cell tumour (embryonal carcinoma with teratoma) with complex karyotype including isochromosome 12p. Virchows Arch. 1998;433:571–574
  27. Mostert MM, van de PM, Olde WD, et al. Comparative genomic hybridization of germ cell tumors of the adult testis: confirmation of karyotypic findings and identification of a 12p-amplicon. Cancer Genet Cytogenet. 1996;89:146–152
  28. Zafarana G, Grygalewicz B, Gillis AJ, et al. 12p-Amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH. Oncogene. 2003;22:7695–7701
  29. Rodriguez S, Jafer O, Goker H, et al. Expression profile of genes from 12p in testicular germ cell tumors of adolescents and adults associated with i(12p) and amplification at 12p11.2-p12.1. Oncogene. 2003;22:1880–1891
  30. de Bruin TWA, Slater RM, Defferrari R, et al. Isochromosome 12p-positive pineal germ cell tumor. Cancer Res. 1994;54:1542–1544
  31. Mostert MC, Verkerk AJ, van de Pol M, et al. Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults. Oncogene. 1998;16:2617–2627
  32. Roelofs H, Mostert MC, Pompe K, et al. Restricted 12p amplification and RAS mutation in human germ cell tumors of the adult testis. Am J Pathol. 2000;157:1155–1166
  33. Zafarana G, Gillis AJ, van Gurp RJ, et al. Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation. Cancer Res. 2002;62:1822–1831
  34. Rosenberg C, Van Gurp RJ, Geelen E, Oosterhuis JW, Looijenga LH. Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas. Oncogene. 2000;19:5858–5862
  35. Ottesen AM, Skakkebaek NE, Lundsteen C, et al. High-resolution comparative genomic hybridization detects extra chromosome arm 12p material in most cases of carcinoma in situ adjacent to overt germ cell tumors, but not before the invasive tumor development. Genes Chromosomes Cancer. 2003;38:117–125

PII: S0046-8177(09)00279-2

doi: 10.1016/j.humpath.2009.07.017

Human Pathology
Volume 41, Issue 2 , Pages 232-238 , February 2010