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Intracranial germinomas in a father and his son

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Abstract

Background

Primary intracranial germ cell tumors (IGCTs) represent an uncommon category of neoplasms, and familial occurrence is rare. We present the first report of parent-child patients with pathologically confirmed pure germinomas.

Case report

A 36-year-old Japanese man presented with diabetes insipidus and hypopituitarism. Magnetic resonance imaging (MRI) revealed a mass lesion in the pituitary stalk, which was diagnosed as a pure germinoma by open craniotomy tumor biopsy. Seven years later, his 13-year-old son also presented with diabetes insipidus. MRI revealed mass lesions in the pituitary stalk and the pineal region. He underwent endoscopic tumor biopsy for the pineal lesion, which was diagnosed as a pure germinoma. Both the father and his son were treated with combined radiochemotherapeutic regimens and achieved complete remission after one to two cycles of chemotherapy.

Conclusion

Although there have been three previous case reports of familial germinoma, all of these involved sibling pairs. The present report represents the first parent-child cases. This type of familial occurrence suggests the possibility that germline mutations may also be involved in the development of IGCTs.

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References

  1. Aoyama I, Kondo A, Ogawa H, Ikai Y (1994) Germinoma in siblings: case reports. Surg Neurol 41:313–317

    Article  CAS  PubMed  Google Scholar 

  2. Calaminus G, Bamberg M, Baranzelli MC, Benoit Y, Di Montezemolo LC, Fossati-Bellani F, Jürgens H, Kühl HJ, Lenard HG, Curto ML (1994) Intracranial germ cell tumors: a comprehensive update of the European data. Neuropediatrics 25:26–32

    Article  CAS  PubMed  Google Scholar 

  3. Calaminus G, Bamberg M, Harms D, Jürgens H, Kortmann RD, Sörensen N, Wiestler OD, Göbel U (2005) AFP/beta-HCG secreting CNS germ cell tumors: long-term outcome with respect to initial symptoms and primary tumor resection. Results of the cooperative trial MAKEI 89. Neuropediatrics 36:71–77

    Article  CAS  PubMed  Google Scholar 

  4. Dolecek TA, Propp JM, Stroup NE, Kruchko C (2012) CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2005–2009. Neurol Oncol 14(Suppl 5):v1–v49

    Article  Google Scholar 

  5. Fukushima S, Otsuka A, Suzuki T, Yanagisawa T, Mishima K, Mukasa A, Saito N, Kumabe T, Kanamori M, Tominaga T, Narita Y, Shibui S, Kato M, Shibata T, Matsutani M, Nishikawa R, Ichimura K (2014) Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA expression and chromosomal instability in primary intracranial pure germinomas. Acta Neuropathol 127:911–925

  6. Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA (2009) Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res 69:5301–5306

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  7. Iwato M, Tachibana O, Tohma Y, Arakawa Y (2000) Alterations of the INK4a/ARF locus in human intracranial germ cell tumors. Cancer Res 60:2113–2115

    CAS  PubMed  Google Scholar 

  8. Committee of Brain Tumor Registry of Japan (2014) Report of brain tumor registry of Japan (2000–2004). Neurol Med Chir 54(Suppl)1: 17–29

  9. Kamakura Y, Hasegawa M, Minamoto T, Yamashita J, Fujisawa H (2006) C-kit gene mutation: common and widely distributed in intracranial germinomas. J Neurosurg 104:173–180

    PubMed  Google Scholar 

  10. Kanamori M, Kumabe T, Saito R, Yamashita Y, Sonoda Y, Ariga H, Takai Y, Tominaga T (2009) Optimal treatment strategy for intracranial germ cell tumors: a single institution analysis. J Neurosurg Pediatr 4:506–514

    Article  PubMed  Google Scholar 

  11. Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Ciosek SL, Doody DR, Smith LM, Weaver J, Albano A, Chen C, Starr JR, Rader DJ, Godwin AK, Reilly MP, Hakonarson H, Schwartz SM, Nathanson KL (2009) Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet 41:811–815

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Kawabata Y, Takahashi JA, Arakawa Y, Shirahata M, Hashimoto N (2008) Long term outcomes in patients with intracranial germinomas: a single institution experience of irradiation with or without chemotherapy. J Neurooncol 88:161–167

    Article  PubMed  Google Scholar 

  13. Kemmer K, Corless CL, Fletcher JA, McGreevey L, Haley A, Griffith D, Cummings OW, Wait C, Town A, Heinrich MC (2004) KIT mutations are common in testicular seminomas. Am J Pathol 164:305–313

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Kido G, Takeuchi T, Tsukiyama T, Nakamura S, Tsubokawa T, Henmi A (1984) Tumor of the pineal region in three brothers. No Shinkei Geka 12:975–980

    CAS  PubMed  Google Scholar 

  15. Maity A, Shu H, Judkins A (2004) Testicular seminoma 16 years after treatment for CNS germinoma. J Neurooncol 70:83–85

    Article  PubMed  Google Scholar 

  16. Nakasu S, Handa J, Hazama F, Hirakawa K (1983) Suprasellar yolk-sac tumor in two sisters. Surg Neurol 20:147–151

    Article  CAS  PubMed  Google Scholar 

  17. Nitta N, Fukami T, Nozaki K (2013) Germinoma in two brothers: case report. Neurol Med Chir (Tokyo) 53:703–706

  18. Oosterhuis JW, Looijenga LHJ (2005) Testicular germ-cell tumours in a broader perspective. Nat Rev Cancer 5:210–222

    Article  CAS  PubMed  Google Scholar 

  19. Peat DS, Trowell JE (1994) Testicular seminoma in a patient with pineal germinoma. J Clin Pathol 47:771–772

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  20. Rapley EA, Turnbull C, Al Olama AA, Dermitzakis ET, Linger R, Huddart RA, Renwick A, Hughes D, Hines S, Seal S, Morrison J, Nsengimana J, Deloukas P, Rahman N, Bishop DT, Easton DF, Stratton MR (2009) A genome-wide association study of testicular germ cell tumor. Nat Genet 41:807–810

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  21. Reuter VE (2005) Origins and molecular biology of testicular germ cell tumors. Mod Pathol 18(Suppl 2):S51–S60

    Article  CAS  PubMed  Google Scholar 

  22. Sakuma Y, Sakurai S, Oguni S, Satoh M, Hironaka M, Saito K (2004) C-Kit gene mutations in intracranial germinomas. Cancer Sci 95:716–720

    Article  CAS  PubMed  Google Scholar 

  23. Trentini GP, Maiorana A, De Benedittis A (1985) Metachronous seminoma of the pineal region and right testis. Case report. Appl Pathol 3:129–133

    CAS  PubMed  Google Scholar 

  24. Wakai S, Segawa H, Kitahara S, Asano T, Sano K, Ogihara R, Tomita S (1980) Teratoma in the pineal region in two brothers. Case reports. J Neurosurg 53:239–243

    Article  CAS  PubMed  Google Scholar 

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Conflict of interest

The authors declare that they have no conflicts of interest.

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Authors and Affiliations

  1. Department of Neurosurgery, Kobe City Medical Center General Hospital, Kobe, Japan

    Kampei Shimizu, Yohei Mineharu, Hirotoshi Imamura, Katsunori Asai & Nobuyuki Sakai

  2. Department of Pathology, Kobe City Medical Center General Hospital, Kobe, Japan

    Yukihiro Imai

  3. Division of Neuroendovascular Therapy, Institute of Biomedical Research and Innovation (IBRI), 2-2 Minatojima-Minamimach, Chuo-ku, Kobe, 650-0047, Japan

    Yohei Mineharu, Katsunori Asai & Nobuyuki Sakai

  4. Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan

    Koichi Ichimura

Authors
  1. Kampei Shimizu
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  2. Yohei Mineharu
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  3. Hirotoshi Imamura
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  4. Katsunori Asai
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  5. Yukihiro Imai
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  7. Nobuyuki Sakai
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Correspondence to Yohei Mineharu.

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Shimizu, K., Mineharu, Y., Imamura, H. et al. Intracranial germinomas in a father and his son. Childs Nerv Syst 30, 2143–2146 (2014). https://doi.org/10.1007/s00381-014-2461-0

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  • DOI: https://doi.org/10.1007/s00381-014-2461-0

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