Endocrine manifestations of paediatric intracranial germ cell tumours: from diagnosis to long-term follow-up

Partenope, Cristina; Pozzobon, Gabriella; Weber, Giovanna; Arya, Vivek; Carceller, Fernando; Albanese, Assunta

doi:10.1007/s12020-022-03121-9

Cited by 10 publications

(8 citation statements)

References 38 publications

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“…Diabetes insipidus is a common manifestation of germ cell tumors and an important risk factor for complications, especially during chemotherapy infusion using hyperhydration ( 26 ). Our two toxicity-related deaths emphasize the importance of education and management of endocrine complications, even in the long-term follow-up after completion of tumor treatment, to provide the best care for these patients ( 27 , 28 ).…”

Section: Discussionmentioning

confidence: 94%

Intracranial non-germinomatous germ cell tumors in children and adolescents: how can the experience from an uppermiddle-income country contribute to the worldwide effort to improve outcomes?

Cappellano,

Dassi,

Mançano

et al. 2024

Front. Oncol.

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BackgroundNon-germinomatous germ cell tumors (NGGCT) accounts for one third of intracranial GCT. While the germinoma group have an excellent overall survival, the standard of practice for children with NGGCT is still under evaluation.AimsDescribe the results of the of the Brazilian consortium protocol.MethodsSince 2013, 15 patients with a diagnosis of NGGCT by histopathology and/or serum/cerebrospinal fluid (CSF) tumor markers, βHCG >200mlU/ml and/or positive alpha-fetoprotein were treated with neoadjuvant chemotherapy with carboplatin, cyclophosphamide and etoposide followed by ventricular radiotherapy (RTV) of 18Gy with boost (32Gy) to the primary site. Metastatic patients underwent craniospinal irradiation (CSI) and “slow responders” to the four initial cycles of CT, to autologous stem cell transplantation (ASCT) followed by CSI.ResultsMean age, 13.1 years. Thirteen males. Primary sites: pineal (n=12), suprasellar (n=2) and bifocal (n=1). Four patients were metastatic at diagnosis. Eight patients had CSF and/or serum alpha-fetoprotein levels > 1,000ng/ml. Tumor responses after chemotherapy demonstrated complete in six cases and partial in seven, with “second-look” surgery being performed in five cases, and two patients presenting viable lesions being referred to ASCT. The main toxicity observed was hematological grades 3/4. Two patients with metastatic disease, one with Down Syndrome and AFP > 1,000ng/ml and the other with choriocarcinoma and pulmonary metastases, developed progressive disease resulting in death, as well as two other patients without evidence of disease, due to endocrinological disorders. Event-free and overall survival at 2 and 5 years were 80% and 72.7%, respectively, with a mean follow-up of 48 months (range, 7-107).ConclusionsDespite the small number of patients, in our series, treatment with six cycles of chemotherapy and RTV with focal boost for localized disease (n=11) and ACST for identified slow responders (n=2) seem to be effective strategies contributing to the overall effort to improve outcomes of this group of patients.

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Section: Discussionmentioning

confidence: 94%

Intracranial non-germinomatous germ cell tumors in children and adolescents: how can the experience from an uppermiddle-income country contribute to the worldwide effort to improve outcomes?

Cappellano,

Dassi,

Mançano

et al. 2024

Front. Oncol.

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“…da Nóbrega et al [ 23 ] described a 14-year-old boy with a suprasellar germinoma, initially presenting with diabetes insipidus, in whom panhypopituitarism developed after chemotherapy and radiotherapy. Partenope et al [ 24 ] examined endocrine manifestations in 55 children with intracranial germ cell tumors at diagnosis and during follow-up. Endocrine disorders were present in 50.9% of patients at diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…The most common was diabetes insipidus (85.7%), followed by central adrenal insufficiency (57.1%), central hypothyroidism (50%), GH deficiency (28.5%), hypogonadotrophic hypogonadism (10.7%), and precocious puberty (10.7%). If not diagnosed previously, endocrinopathies arose 15.15 months (1.3-404.2) after the end of treatment in an additional 16.4% patients[ 24 ].…”

Section: Discussionmentioning

confidence: 99%

Panhypopituitarism caused by a suprasellar germinoma: A case report

Roganovic,

Saric,

Segulja

et al. 2024

World J Clin Cases

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BACKGROUND Suprasellar germinomas are rare intracranial tumors frequently associated with permanent endocrine disorders. We present the clinical picture, treatment, and complications of suprasellar germinoma at pediatric age which, besides being life-threatening, has lifelong endocrinological consequences. CASE SUMMARY A 12-year-old female patient was presented having had intensive headaches for three weeks and visual disturbances for six months. An ophthalmological examination revealed bilateral papilledema and a marked loss of vision. Emergency brain magnetic resonance imaging (MRI) showed a suprasellar tumor, involving the infundibulum and the optic chiasm, extending to the third ventricle. Laboratory tests confirmed decreased levels of thyroxine, cortisol, gonadotropins, and insulin-like growth factor 1. Maximal tumor reduction was performed, and immunohistopathology established the diagnosis of suprasellar germinoma. MRI of the spine and cerebrospinal fluid cytology confirmed the localized disease. Adjuvant chemotherapy and radiotherapy were performed according to the SIOP CNS GCT II protocol. A post-treatment MRI showed no residual tumor, but pituitary function had not recovered. Three and a half years after the end of the treatment, the patient is in a complete remission, requiring hormonal replacement therapy, continuous education, and psychological support. CONCLUSION This complex case highlights the importance of timely diagnosis, a multidisciplinary approach, and close follow-up in children with suprasellar germinomas.

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“…Furthermore, other endocrine deficiencies leading to stunted growth, precocious puberty, or delayed sexual development, as well as menstrual irregularity, have been observed. Diabetes insipidus (DI) has been found in more than 90% of germinomas cases in the sellar region, which is why patients often seek medical attention due to a protracted history of polyuria and polydipsia [ 52 ]. Other common presenting complaints include headache, nausea, or vomiting.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The tumor can invade the floor and walls of the third ventricle as well as the infundibulum and may cause irreversible damage to the neurohypophysis [ 51 ]. Besides DI, hormonal dysfunction may involve growth, thyroid-stimulating, luteinizing, follicle-stimulating, and adrenocorticotrophic hormones [ 52 , 53 ]. On the other hand, hypopituitarism has often occurred in patients with germinomas even though it located in the pineal region [ 46 ].…”

Section: Diagnostic Workupmentioning

confidence: 99%

Intracranial Germinomas: Diagnosis, Pathogenesis, Clinical Presentation, and Management

2023

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Purpose of Review Intracranial germinomas constitute a rare brain tumor entity of unknown etiology, characterized by unique histopathology and molecular biology. In this manuscript, we review the literature focusing on the epidemiology, histopathology with molecular biology, clinical presentation with emphasis on tumor location, diagnostic workup, and current treatment strategies with related clinical outcomes of intracranial germinomas. Recent Findings Although the optimal treatment strategy remains a matter of debate, intracranial germinomas respond well to radiotherapy, chemotherapy, or a combination of both and are characterized by very high cure and survival rates. It is well-known that early discrimination of germinomas from other intracranial neoplasms facilitates the timely initiation of appropriate treatment, thereby contributing to the reduction of morbidity as well as mortality. Summary Ongoing research will need to be directed towards discovering and refining reliable parameters for early diagnosis and evaluation of prognosis in patients with intracranial germinomas.

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Endocrine manifestations of paediatric intracranial germ cell tumours: from diagnosis to long-term follow-up

Cited by 10 publications

References 38 publications

Intracranial non-germinomatous germ cell tumors in children and adolescents: how can the experience from an uppermiddle-income country contribute to the worldwide effort to improve outcomes?

Intracranial non-germinomatous germ cell tumors in children and adolescents: how can the experience from an uppermiddle-income country contribute to the worldwide effort to improve outcomes?

Panhypopituitarism caused by a suprasellar germinoma: A case report

Intracranial Germinomas: Diagnosis, Pathogenesis, Clinical Presentation, and Management

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