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open access

Vol 69, No 5 (2018)
Case report
Submitted: 2017-08-16
Accepted: 2017-12-28
Published online: 2018-09-12
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Clinical case seminar: Familial intracranial germinoma

Mirjana Doknic12, Dragan Savic23, Emilija Manojlovic-Gacic24, Raicevic Savo24, Jelena Bokun5, Tatjana Milenkovic6, Sonja Pavlovic7, Misa Vreca7, Marina Andjelkovic7, Marko Stojanovic12, Dragana Miljic12, Sandra Pekic12, Milan Petakov12, Danica Grujicic23
DOI: 10.5603/EP.2018.0060
·
Pubmed: 30379323
·
Endokrynol Pol 2018;69(5):612-618.
Affiliations
  1. Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Centre of Serbia, Belgrade, Serbia, Serbia and Montenegro
  2. University of Belgrade, School of Medicine, Belgrade, Serbia
  3. Clinic for Neurosurgery, Clinical Centre of Serbia, Belgrade, Serbia
  4. Institute for Pathology, Belgrade, Serbia and Montenegro
  5. Institute for Oncology and Radiology of Serbia, Belgrade, Serbia and Montenegro
  6. Mother and Child Health Care Institute of Serbia, Belgrade, Serbia and Montenegro
  7. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro

open access

Vol 69, No 5 (2018)
Case report
Submitted: 2017-08-16
Accepted: 2017-12-28
Published online: 2018-09-12

Abstract

Background. Intracranial germinomas (ICG) are uncommon brain neoplasms with extremely rare familial occurance. Since ICG invades hypothalamus and/or pituitary, the endocrine dysfunction is one of the common determinants of these tumors. We presented two brothers with the history of ICG. Patient 1 is a 25-year-old male who had been suffering from the weakness of the right half of his body at the age of 18. Cranial MRI revealed mass lesion in the left thalamus. He underwent neurosurgery, tumor was removed completely. Histopathological (HP) and immunohistochemical analyses verified the diagnosis of pure germinoma. He experienced complete remission of the tumor after a radiation therapy. At the age of 22 the diagnosis of isolated growth hormone deficiency (IGHD) was established and GH replacement was initiated. Patient 2 is a 20-year old boy who was presented with diabetes insipidus at the age of 12. MRI detected tumor in the third ventricle and pineal region. After the endoscopic tumor biopsy the HP diagnosis was pure germinoma. He received chemotherapy followed by radiotherapy, and treated with GH during childhood. At the age of 18 GH replacement was reintroduced. A six month follow-up during the next two years in both brothers demonstrated the IGF1 normalization with no MRI signs of tumor recurrence. Conclusion. To the best of our knowledge so far, only six reports have been published related to familial ICG. The presented two brothers are the first report of familial ICG case outside of Japan. They are treated successfully with GH therapy in adult period. < /p > < p >

Abstract

Background. Intracranial germinomas (ICG) are uncommon brain neoplasms with extremely rare familial occurance. Since ICG invades hypothalamus and/or pituitary, the endocrine dysfunction is one of the common determinants of these tumors. We presented two brothers with the history of ICG. Patient 1 is a 25-year-old male who had been suffering from the weakness of the right half of his body at the age of 18. Cranial MRI revealed mass lesion in the left thalamus. He underwent neurosurgery, tumor was removed completely. Histopathological (HP) and immunohistochemical analyses verified the diagnosis of pure germinoma. He experienced complete remission of the tumor after a radiation therapy. At the age of 22 the diagnosis of isolated growth hormone deficiency (IGHD) was established and GH replacement was initiated. Patient 2 is a 20-year old boy who was presented with diabetes insipidus at the age of 12. MRI detected tumor in the third ventricle and pineal region. After the endoscopic tumor biopsy the HP diagnosis was pure germinoma. He received chemotherapy followed by radiotherapy, and treated with GH during childhood. At the age of 18 GH replacement was reintroduced. A six month follow-up during the next two years in both brothers demonstrated the IGF1 normalization with no MRI signs of tumor recurrence. Conclusion. To the best of our knowledge so far, only six reports have been published related to familial ICG. The presented two brothers are the first report of familial ICG case outside of Japan. They are treated successfully with GH therapy in adult period. < /p > < p >

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Keywords

intracranial germinoma, familial occurrence, hypopituitarism, GH replacement

About this article
Title

Clinical case seminar: Familial intracranial germinoma

Journal

Endokrynologia Polska

Issue

Vol 69, No 5 (2018)

Article type

Case report

Pages

612-618

Published online

2018-09-12

Page views

2746

Article views/downloads

1219

DOI

10.5603/EP.2018.0060

Pubmed

30379323

Bibliographic record

Endokrynol Pol 2018;69(5):612-618.

Keywords

intracranial germinoma
familial occurrence
hypopituitarism
GH replacement

Authors

Mirjana Doknic
Dragan Savic
Emilija Manojlovic-Gacic
Raicevic Savo
Jelena Bokun
Tatjana Milenkovic
Sonja Pavlovic
Misa Vreca
Marina Andjelkovic
Marko Stojanovic
Dragana Miljic
Sandra Pekic
Milan Petakov
Danica Grujicic

References (35)
  1. Kyritsis AP. Management of primary intracranial germ cell tumors. J Neurooncol. 2010; 96(2): 143–149.
    CrossRefPubMed
  2. Okamoto K, Ito J, Ishikawa K, et al. Atrophy of the basal ganglia as the initial diagnostic sign of germinoma in the basal ganglia. Neuroradiology. 2002; 44(5): 389–394.
    CrossRefPubMed
  3. Louis DN, Ohgaki H, Wiestler OD, et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 2007; 114(2): 97–109.
    CrossRefPubMed
  4. Aoyama I, Kondo A, Ogawa H, et al. Germinoma in siblings: case reports. Surg Neurol. 1994; 41(4): 313–317.
    PubMed
  5. Kido G, Takeuchi T, Tsukiyama T, et al. [Tumor of the pineal region in three brothers]. No Shinkei Geka. 1984; 12(8): 975–980.
    PubMed
  6. Wakai S, Segawa H, Kitahara S, et al. Teratoma in the pineal region in two brothers. Case reports. J Neurosurg. 1980; 53(2): 239–243.
    CrossRefPubMed
  7. Nakasu S, Handa J, Hazama F, et al. Suprasellar yolk-sac tumor in two sisters. Surg Neurol. 1983; 20(2): 147–151.
    PubMed
  8. Nitta N, Fukami T, Nozaki K. Germinoma in two brothers: case report. Neurol Med Chir (Tokyo). 2013; 53(10): 703–706.
    PubMed
  9. Shimizu K, Mineharu Y, Imamura H, et al. Intracranial germinomas in a father and his son. Childs Nerv Syst. 2014; 30(12): 2143–2146.
    CrossRefPubMed
  10. Gabeau-Lacet D, Grant E, Stemmer-Rachamimov A, et al. Sellar abnormalities in female first-degree relatives. Clin Neurol Neurosurg. 2008; 110(2): 202–206.
    CrossRefPubMed
  11. Grahovac G, Alden T, Nitin W. Mixed pineal mature teratoma and germinoma in two brothers of the fraternal triplets. Childs Nerv Syst. 2017; 33(5): 859–863.
    CrossRefPubMed
  12. Horvath A, Korde L, Greene MH, et al. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res. 2009; 69(13): 5301–5306.
    CrossRefPubMed
  13. Kamakura Y, Hasegawa M, Minamoto T, et al. C-kit gene mutation: common and widely distributed in intracranial germinomas. J Neurosurg. 2006; 104(3 Suppl): 173–180.
    CrossRefPubMed
  14. Fukushima S, Otsuka A, Suzuki T, et al. Intracranial Germ Cell Tumor Genome Analysis Consortium (iGCT Consortium). Mutually exclusive mutations of KIT and RAS are associated with KIT mRNA expression and chromosomal instability in primary intracranial pure germinomas. Acta Neuropathol. 2014; 127(6): 911–925.
    CrossRefPubMed
  15. Ichimura K, Fukushima S, Totoki Y, et al. Intracranial Germ Cell Tumor Genome Analysis Consortium. Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy. Acta Neuropathol. 2016; 131(6): 889–901.
    CrossRefPubMed
  16. Karapetis CS, Khambata-Ford S, Jonker DJ, et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med. 2008; 359(17): 1757–1765.
    CrossRefPubMed
  17. Do H, Krypuy M, Mitchell PL, et al. High resolution melting analysis for rapid and sensitive EGFR and KRAS mutation detection in formalin fixed paraffin embedded biopsies. BMC Cancer. 2008; 8: 142.
    CrossRefPubMed
  18. Yang X, Qian J, Sun A, et al. RAS mutation analysis in a large cohort of Chinese patients with acute myeloid leukemia. Clin Biochem. 2013; 46(7-8): 579–583.
    CrossRefPubMed
  19. Wang L, Yamaguchi S, Burstein MD, et al. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014; 511(7508): 241–245.
    CrossRefPubMed
  20. Tanabe M, Mizushima M, Anno Y, et al. Intracranial germinoma with Down's syndrome: a case report and review of the literature. Surg Neurol. 1997; 47(1): 28–31.
    PubMed
  21. Nakata Y, Yagishita A, Arai N. Two patients with intraspinal germinoma associated with Klinefelter syndrome: case report and review of the literature. AJNR Am J Neuroradiol. 2006; 27(6): 1204–1210.
    PubMed
  22. Fukushima S, Yamashita S, Kobayashi H, et al. Intracranial Germ Cell Tumor Genome Analysis Consortium (The iGCTConsortium). Genome-wide methylation profiles in primary intracranial germ cell tumors indicate a primordial germ cell origin for germinomas. Acta Neuropathol. 2017; 133(3): 445–462.
    CrossRefPubMed
  23. Smith AA, Weng E, Handler M, et al. Intracranial germ cell tumors: a single institution experience and review of the literature. J Neurooncol. 2004; 68(2): 153–159.
    PubMed
  24. Foote M, Millar BA, Sahgal A, et al. Clinical outcomes of adult patients with primary intracranial germinomas treated with low-dose craniospinal radiotherapy and local boost. J Neurooncol. 2010; 100(3): 459–463.
    CrossRefPubMed
  25. Sa ki N, Tamaki K, Murai H, et al. Long-term outcome of endocrine function in patients with neurohypophyseal germinomas. Endocr J. 2000; 47(1): 83–89.
    PubMed
  26. Aida T, Abe H, Fujieda K, et al. Endocrine functions in children with suprasellar germinoma. Neurol Med Chir (Tokyo). 1993; 33(3): 152–157.
    PubMed
  27. Uchino Y, Saeki N, Iwadate Y, et al. Recurrence of sellar and suprasellar tumors in children treated with hGH. Endocr J. 2000; 47(SupplMarch): S33–S36.
    CrossRef
  28. Kortmann RD. Current concepts and future strategies in the management of intracranial germinoma. Expert Rev Anticancer Ther. 2014; 14(1): 105–119.
    CrossRefPubMed
  29. Fuller BG, Kapp DS, Cox R. Radiation therapy of pineal region tumors: 25 new cases and a review of 208 previously reported cases. Int J Radiat Oncol Biol Phys. 1994; 28(1): 229–245.
    PubMed
  30. Janjetovic S, Bokemeyer C, Fiedler W, et al. Late recurrence of a pineal germinoma 14 years after radiation and chemotherapy: a case report and review of the literature. Onkologie. 2013; 36(6): 371–373.
    CrossRefPubMed
  31. Kiltie AE, Collins CD, Gattamaneni HR, et al. Relapse of intracranial germinoma 23 years postirradiation in a patient given growth hormone replacement. Med Pediatr Oncol. 1997; 29(1): 41–44.
    PubMed
  32. Allen DB, Backeljauw P, Bidlingmaier M, et al. GH safety workshop position paper: a critical appraisal of recombinant human GH therapy in children and adults. Eur J Endocrinol. 2016; 174(2): P1–P9.
    CrossRefPubMed
  33. Chung TT, Drake WM, Plowman PN, et al. No clear evidence for an association between GH replacement and relapse of intracranial germ cell tumours: single centre and KIMS experience. Eur J Endocrinol. 2010; 163(2): 357–358.
    CrossRefPubMed
  34. Yuen KCJ, Heaney AP, Popovic V. Considering GH replacement for GH-deficient adults with a previous history of cancer: a conundrum for the clinician. Endocrine. 2016; 52(2): 194–205.
    CrossRefPubMed
  35. Brignardello E, Felicetti F, Castiglione A, et al. GH replacement therapy and second neoplasms in adult survivors of childhood cancer: a retrospective study from a single institution. J Endocrinol Invest. 2015; 38(2): 171–176.
    CrossRefPubMed

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