Delayed Diagnosis in Children with Intracranial Germ Cell Tumors

Sethi, Roshan V.; Marino, Rose; Niemierko, Andrzej; Tarbell, Nancy J.; Yock, Torunn I.; MacDonald, Shannon M.

doi:10.1016/j.jpeds.2013.06.024

Cited by 105 publications

(91 citation statements)

References 27 publications

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“…The incidence of DI was particularly high at diagnosis in germinomas (72.2%), which is described in the literature as a feature of this tumour type, mainly because of the frequent involvement of the hypothalamus and pituitary stalk [2,7,34,35]. The posttreatment DI incidence was also higher in our cohort (50.3%) than in brain tumour survivors overall (around 13%) [5].…”

Section: Discussionmentioning

confidence: 54%

Water and Electrolyte Disorders at Long-Term Post-Treatment Follow-Up in Paediatric Patients with Suprasellar Tumours Include Unexpected Persistent Cerebral Salt-Wasting Syndrome

Briceño¹,

Grill

Bourdeaut

et al. 2014

Horm Res Paediatr

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Background: Patients with brain tumours have a high risk of water and electrolyte disorders (WED). Postsurgery diabetes insipidus (DI) may be transient or permanent, the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and cerebral salt-wasting syndrome (CSWS) are usually transient. Methods: Retrospective study, including patients with suprasellar tumours, treated at Hôpital Necker, Institut Gustave-Roussy or Institut Curie, in Île-de-France, between 2007 and 2011. WED were noted if they persisted >1 month after surgery. Results: 159 patients were included, 54.1% girls, 43.9% boys. Tumour types were: glioma (43.4%), craniopharyngioma (43.4%), germinoma (11.3%), others (1.9%). Age at diagnosis was 7.1 ± 4.6 years. The median time from end of treatment was 1.9 (0-7.8) years. DI was the most frequent disorder after tumour treatment (50.3%) and was significantly associated with surgery (p < 0.001). Persistent CSWS was present in 3.6%, persistent SIADH in 1.3%. Two cases of hypernatraemia were due to adipsia. Thyrotropin deficiency after treatment was noted in 68.9% of patients tested, adrenocorticotropin deficiency in 66.2%. Conclusions: Patients with suprasellar tumours have a high incidence of long-term WED, mainly DI. Assessment of thyrotroph and corticotroph function, and thirst sensation, is necessary to diagnose and manage these disorders correctly. CSWS may be persistent in few patients and requires special attention to prescribe the appropriate care.

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Section: Discussionmentioning

confidence: 54%

Water and Electrolyte Disorders at Long-Term Post-Treatment Follow-Up in Paediatric Patients with Suprasellar Tumours Include Unexpected Persistent Cerebral Salt-Wasting Syndrome

Briceño¹,

Grill

Bourdeaut

et al. 2014

Horm Res Paediatr

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“…Patients with pineal germinoma may present with insomnia, but interference with pituitary function is rarely observed (13). Pineal tumors often manifest with symptoms of obstructive hydrocephalus (14) and Parinaud's syndrome, characterized by the paralysis of upward gaze and convergence, may occur in 50% of patients (15). Suprasellar tumors are often characterized as endocrinopathies due to the disruption of the hypothalamic-pituitary axis (16).…”

Section: Discussionmentioning

confidence: 99%

β-human chorionic gonadotropin-secreting intracranial germ-cell tumor associated with high testosterone in an adult man: A case report

2017

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Abstract.A 38-year-old male patient presented with general weakness, polydipsia and a body weight loss of 10 kg in two years. Hypopituitarism with central hypothyroidism and central adrenal insufficiency were noted at Taipei City Hospital (Taipei, Taiwan). However, hypogonadotropic hypergonadism was also observed. The patient was diagnosed with an intracranial β-human chorionic gonadotropin (β-hCG) secreting germ-cell tumor, and brain magnetic resonance imaging revealed that the tumor involved the pineal gland, stalk, posterior pituitary gland, right basal ganglion, hypothalamus, corpus callosum and posterior hippocampus. The cerebrospinal fluid (CSF) β-hCG level was 1936 IU/l, while the α-fetoprotein (AFP) level was <0.24 ng/ml. The serum AFP level of the patient was 3.28 ng/ml, and the β-hCG level was 178 IU/l with a CSF:serum β-hCG ratio >2:1. The patient was successfully treated with chemotherapy and radiotherapy, as demonstrated by a marked decrease in size of the tumor and in the serum β-hCG levels. Intracranial β-hCG secreting germ-cell tumors are rare in adults and manifest differently compared with patients of early pubertal age. In contrast with the precocious puberty frequently observed in young patients, the diagnosis of adult patients is often delayed and the symptoms are associated with tumor size and location. The present case report described an adult male with an intracranial β-hCG secreting GCT, demonstrating hypopituitarism and asymptomatic hyperandrogenemia, and reviews and discusses the literature relevant to the case. IntroductionPrimary intracranial germ-cell tumors (GCT) are rare tumors. They account for ~0.5-3% of all pediatric primary central nervous system (CNS) tumors in Western regions, but are observed at higher frequencies among pediatric CNS tumors in Asia, accounting for up to 10% (1). The incidence in the Far East area of Japan is 0.1-0.17 per 100,000 per year, according to the Brain Tumor Registry of Japan (2), slightly higher than the incidence rate of 0.1 per 100,000 per year in the United States (3). Primary intracranial GCT typically occurs in children or young adults, with the majority of patients (60-70%) aged under 20 (4). The peak incidence of intracranial germ-cell tumors is in the early pubertal period with a median age of diagnosis at 10-12 years (5). The disease occurs primarily in males, with the ratio of male to female between 2:1 and 3:1 (6). The World Health Organization had classified intracranial germ-cell tumors into three groups as follows: Germinomas, non-germinomatous germ-cell tumors (NGGCTs) and mixed germ-cell tumors (7). The diseases are heterogeneous in terms of histology, tumor characteristics, treatment response and tumor marker secretion. Among NGGCTs, choriocarcinoma secretes β-human chorionic gonadotropin (β-HCG) into the serum and/or the cerebrospinal fluid (CSF), with high levels detected, while yolk sac tumors secrete α-fetoprotein (AFP). Elevation of AFP levels, combined with characteristic magnetic resonance imaging (MRI) results, is diagnos...

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“…Along with anterior pituitary dysfunction and visual disturbances, DI is typically associated with suprasellar/bifocal germinomas and has been described in over 80% of comparable subgroup analyses [20][21][22][23][24][25][26][27][28][29][30][31][32][33][34] . The diagnosis of DI in children requires a long-term follow-up beyond the pubertal age in order to establish the underlying cause [35] .…”

Section: Discussionmentioning

confidence: 99%

Perifocal Inflammatory Reaction with Volume Fluctuation Caused by Diagnostic Radiation-Induced Regression in Germinoma Makes Histological Diagnosis Difficult despite Its Disappearance following Treatment: A Significant Pitfall and Countermeasures to It

Yoneoka

Yoshimura²,

Okada³

et al. 2016

Pediatr Neurosurg

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We present a pediatric case of neurohypophyseal germinoma with a perifocal inflammatory reaction (PIR) with volume fluctuation caused by diagnostic radiation-induced regression (DRIR). On-target biopsy failed to confirm the histology because PIR hardly contained any germinoma cells. DRIR-related fluctuation of the tumor volume disguised germinoma as inflammation. We analyzed the cerebrospinal fluid (CSF) and detected a high level of placental alkaline phosphatase (PLAP), which demonstrated the neurohypophyseal lesion to be germinoma and brought the patient from successful radiochemotherapy up to complete remission. PIR adjacent to the germinoma (PIRAG) disappeared completely following radiochemotherapy, although it contained almost no germinoma cells. Examination of the CSF-PLAP level can complement the diagnosis of germinoma and will decrease the risk of misdiagnosis. Neurosurgeons should keep in mind PIRAG, DRIR, and the diagnostic value of CSF-PLAP when germinoma is suspected.

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Delayed Diagnosis in Children with Intracranial Germ Cell Tumors

Cited by 105 publications

References 27 publications

Water and Electrolyte Disorders at Long-Term Post-Treatment Follow-Up in Paediatric Patients with Suprasellar Tumours Include Unexpected Persistent Cerebral Salt-Wasting Syndrome

Water and Electrolyte Disorders at Long-Term Post-Treatment Follow-Up in Paediatric Patients with Suprasellar Tumours Include Unexpected Persistent Cerebral Salt-Wasting Syndrome

β-human chorionic gonadotropin-secreting intracranial germ-cell tumor associated with high testosterone in an adult man: A case report

Perifocal Inflammatory Reaction with Volume Fluctuation Caused by Diagnostic Radiation-Induced Regression in Germinoma Makes Histological Diagnosis Difficult despite Its Disappearance following Treatment: A Significant Pitfall and Countermeasures to It

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