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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

2537

Article views/downloads

1099

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

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