Ectopic intracranial germinoma

Shankar, Samantha; Wu, Xiao; Kalra, Vivek B.; Hüttner, Anita; Malhotra, Ajay

doi:10.1016/j.jocn.2016.02.013

Cited by 13 publications

(8 citation statements)

References 14 publications

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“…However, they share a few common imaging features with ectopic IGs, different from those originating from sellar/suprasellar and pineal regions: well-defined margins, isointense on T1 WI, iso/hypointense on T2 WI, contain multiple cysts which tend to be large because of the minimal or nonspecific clinical signs and symptoms. The solid part of the lesion presents moderate or strong enhancement and cysts-walls enhancement and mild peritumoral edema are present [[7], [8], [9]]. Ectopic IGs have a more marked male predominance than midline IGs and present predominantly as a single tumor [8].…”

Section: Discussionmentioning

confidence: 99%

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

Boukobza

Polivka

2019

eNeurologicalSci

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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.

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Section: Discussionmentioning

confidence: 99%

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

Boukobza

Polivka

2019

eNeurologicalSci

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“…Pineal germinoma clinically presents with central DI, hypopituitarism and visual field defect, commonly seen in patients with sellar lesions other than germinoma [8,11,12]. Hypothalamic/pineal mass and stalk thickening are common radiological findings of germinoma [13,14], which are not easily distinguishable from other pathological processes in this region. However, establishing a definitive diagnosis of a germinoma is quite important due to the pronounced differences in therapeutic options compared with other abnormal lesions found in this area such as lymphocytic hypophysitis.…”

Section: Discussionmentioning

confidence: 99%

A Case of Pituitary Germinoma Misdiagnosed as Lymphocytic Hypophysitis

et al. 2018

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Pituitary germinomas are difficult to be differentiated from lymphocytic hypophysitis due to similar clinical, radiological and even histological findings. However, it is of great importance to make the distinction between them because of different therapeutic approaches of the two diseases. We report a case of neurohypophysial germinoma who initially was misdiagnosed as lymphocytic hypophysitis. The patient was a 26-year-old man who first presented with central diabetes insipidus and subsequent pan-hypopituitarism. Magnetic resonance imaging (MRI) of the pituitary which first had shown mild pituitary enlargement, revealed a pituitary mass of unusual feature after 1 year. Pathological diagnosis of the lesion, biopsied through trans-sphenoidal route, was lymphocytic hypophysitis. Corticosteroid was initiated for him. Despite, intensive treatment clinical symptoms worsened and the patient developed visual field defect. Follow-up MRI revealed enlargement of the pituitary mass with suprasellar extension and involvement of optic chiasm. Surgical resection of the mass was performed, and the second histological examination confirmed the diagnosis of germinoma. Subsequently, the patient underwent radiotherapy, and complete remission was achieved; however, pan-hypopituitarism persisted. In conclusion, the possibility of neurohypophyseal germinoma should be considered in patients with the diagnosis of lymphocytic hypophysitis who do not respond to corticosteroid therapy.

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“…Germinomas usually develop in the midline areas of the brain, most often in the pineal gland (50% of the pineal tumours are germinomas) and the suprasellar region [ 8 ]. In approximately 5–10% of the cases, the tumour is ectopically situated (in other areas than neurohypophysial or pineal sites), including the basal ganglia, thalamus, corpus callosum, cerebellum, septum pellucidum, temporal lobe, and the spinal cord [ 9 , 10 , 11 , 12 , 13 ]. Suprasellar germinomas are associated with female patients (<15 years old), while pineal germinomas with male patients (>15 years) [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma

Ilcus

Silaghi

Georgescu

et al. 2021

JPM

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Intracranial germinomas are rare tumours, usually affecting male paediatric patients. They frequently develop in the pineal and suprasellar regions, causing endocrinological disturbances, visual deficits, and increased intracranial pressure. The diagnosis is established on magnetic resonance imaging (MRI), serum and cerebrospinal fluid (CSF) markers, and tumour stereotactic biopsy. Imaging techniques, such as susceptibility-weighted imaging (SWI), T2* (T2-star) gradient echo (GRE) or arterial spin labelling based perfusion-weighted MRI (ASL-PWI) facilitate the diagnosis. Germinomas are highly radiosensitive tumours, with survival rates >90% in the context of chemoradiotherapy. However, patients with resistant disease have limited therapeutic options and poor survival. The aim of this review is to highlight the genetic, epigenetic, and immunologic features, which could provide the basis for targeted therapy. Intracranial germinomas present genetic and epigenetic alterations (chromosomal aberrations, KIT, MAPK and PI3K pathways mutations, DNA hypomethylation, miRNA dysregulation) that may represent targets for therapy. Tyrosine kinase and mTOR inhibitors warrant further investigation in these cases. Immune markers, PD-1 (programmed cell death protein 1) and PD-L1 (programmed death-ligand 1), are expressed in germinomas, representing potential targets for immune checkpoint inhibitors. Resistant cases should benefit from a personalized management: genetic and immunological testing and enrolment in trials evaluating targeted therapies in intracranial germinomas.

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Ectopic intracranial germinoma

Cited by 13 publications

References 14 publications

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

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

A Case of Pituitary Germinoma Misdiagnosed as Lymphocytic Hypophysitis

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma

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