Intracranial germinoma combined with parathyroid adenoma in a male pediatric patient: A case report.

Cases of young patients combined with intracranial germinoma and parathyroid adenoma are extremely rare. A 6.25-year-old boy was diagnosed with growth hormone deficiency at his first visit and was then treated with growth hormone substitution. Later, he was clinically diagnosed with central diabetes insipidus (CDI) and primary hyperparathyroidism, whereas no abnormal imaging evidence was identified, except for a thickened pituitary stalk. Due to persistent follow-up, parathyroid adenoma and intracranial germinoma were verified in succession. The patient had derived benefits from parathyroidectomy and chemotherapy plus radiotherapy. We concluded that children and adolescents who present with CDI and pituitary stalk thickening should undergo repeated screenings for underlying intracranial germinoma. Multiple lesions involving the parathyroid gland and pituitary should alert physicians to the possibility of multiple endocrine neoplasia or other inherited diseases; therefore, genetic screening is recommended.

Molecular exploration of paediatric intracranial germinomas from multi-ethnic Singapore.

BACKGROUND: Germinomas (IG) account for up to 50% of all intracranial germ cell tumours. These tumours are reputed to be more prevalent in Oriental populations in comparison to Western cohorts. Biological characteristics of IG in other ethnic groups are unknown. Singapore is a multi-ethnic country with diverse cultures. Owing to inter-racial heterogeneity, the authors hypothesize there are molecular differences between paediatric IG patients in our local population. The aims of this study are exploratory: firstly, to identify molecular characteristics in this tumour type and circulating CSF unique to different racial cohorts; and next, to corroborate our findings with published literature. METHODS: This is a single-institution, retrospective study of prospectively collected data. Inclusion criteria encompass all paediatric patients with histologically confirmed IG. Excess CSF and brain tumour tissues are collected for molecular analysis. Tumour tissues are subjected to a next generation sequencing (NGS) targeted panel for KIT and PDGRA. All CSF samples are profiled via a high-throughput miRNA multiplexed workflow. Results are then corroborated with existing literature and public databases. RESULTS: In our cohort of 14 patients, there are KIT exon variants in the tumour tissues and CSF miRNAs corroborative with published studies. Separately, there are also KIT exon variants and miRNAs not previously highlighted in IG. A subgroup analysis demonstrates differential CSF miRNAs between Chinese and Malay IG patients. CONCLUSION: This is the first in-depth molecular study of a mixed ethnic population of paediatric IGs from a Southeast Asian cohort. Validation studies are required to assess the relevance of novel findings in our study.

Bifocal germinoma of the septum pellucidum and the sellar-supra-sellar region: An uncommon presentation for a rare tumor.

Intracranial germinomas (IGs) are rare malignant germ cell tumors. The septum pellucidum (SP) is an extremely rare site of IGs. To our knowledge we report the first patient presenting with synchronous involvement of the SP and the sellar region. A 28-year-old woman presented with unsteady gait, mild left motor deficit, polydipsia and polyuria of 2-month duration. Imaging revealed a multicystic butterfly lesion in the SP extending to the frontal lobes, with unusual CT and MRI features, associated with a sellar area lesion. A navigation-guided biopsy revealed a pure germinoma. MRI at 12 months after the completion of the radiation therapy showed the resolution of the lesions. She achieved complete remission at 8-year follow-up. IG arising in the SP is rare but should be considered in the differential diagnosis, especially in young adult and particularly in male, presenting with multi-cystic lesion. The presence of a synchronous mass is a clue for the presumptive diagnosis of germinoma. These findings suggest that IG in SP may present as a large tumor with large cysts and may look as central neurocytoma. ADC value is helpful to differentiate them.

Granulomatous Response in Intracranial Germinomas: Diagnostic Problems.

Intracranial germinomas are rare and account for <0.5% of primary intracranial tumors. In contrast to the gonadal germinomas, these do not show granulomatous response within the tumor. In rare cases, the granulomatous component may obscure the tumor proper and lead to diagnostic difficulties/dilemmas. We report a case of suprasellar germinoma in a 17-year-old boy which showed granulomatous response. We discuss the differentials to be considered in such a scenario and discuss the utility of squash cytology and immunohistochemistry in these lesions.

Primary Germinoma Originating from the Insular Lobe: A Case Report and Review of the Literature.

BACKGROUND: Primary intracranial germinomas occurring in the cerebral hemisphere are extremely rare, with only a few reported cases in the literature. We describe an unusual case of a primary germinoma that developed in the insular lobe, with little involvement in the basal frontal lobe. CASE DESCRIPTION: A 19-year-old man presented with headache and vomiting. Magnetic resonance imaging showed a solitary, ring-like enhanced lesion in the left hemisphere, and a preliminary diagnosis of glioma was made. Surgery was performed, and the diagnosis of germinoma was made based on the histopathologic results. CONCLUSIONS: The causes of ectopic germinomas of the midline structures of the brain are still unclear, but the theory of misplacement may partially clarify this phenomenon. Reflecting a lack of definitive management guidelines for atypical germinoma, the present patient was treated with focal radiotherapy around the lesion after surgery and achieved remission by 34 months postoperatively.

Radiation Therapy of Intracranial Germinomas: Optimum Radiation Dose and Treatment Volume / 대한방사선종양학회지

PURPOSE: To evaluate the possibility of decreasing the radiation dose and to determine optimum treatment volume in intracranial germinomas. MATERIALS AND METHODS: Forty five patients with pathologically-verified or presumed germinomas by a radiosensitivity test who had been treated with radiotherapy (RT) alone between 1971 and 1992 were retrospectively analyzed. The average age was 17.2 years with 68.9% of the patients being between the ages of 10-20. The male and female ratio was 2.2:1. The locations of the primary tumors were at the pineal regions in 14 patients; the suprasellar regions in 12 patients; and multiple sites in 12 patients. Treatment volumes varied from a small local field (10) to the whole brain (7) or entire neuroaxis irradiation(28). All the cases after 1982 received craniospinal irradiation (CSI). Radiation doses were 41-59 Gy (median 48.5 Gy) to the primary tumor site and 19.5-36 Gy (median 24 Gy) to the neuroaxis. The median follow-up period was 82 months with a range of 2-260 months. RESULTS: All the patients showed complete response after RT. Four patients sufferred from recurrence 14, 65, 76, and 170 months after RT, respectively, and two patients died with intercurrent disease. One of four recurrent cases was salvaged by re-irradiation. Therefore, a 5 and 10 year overall survival was 95.3 % and 84.7 % respectively. Five and ten year disease-free survival was 97.6 % and 88.8 % respectively. All the recurrences occurred in the patients who received local RT (3/10) or whole brain RT (1/7) with a radiation dose of 48-50 Gy. None of the patients who received CSI suffered recurrence. There was no recurrence among the 15 patients who received < or = 45 Gy to the primary site and the 18 patients who received < or = 24 Gy (6 patients received 19.5 Gy) to the neuroaxis. CONCLUSION: CSI is recommended for the treatment of intracranial germinomas. The radiation dose can be safely decreased to < or = 45 Gy on a primay tumor site and 19.5 Gy on the spine.