Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies

Queipo, Gloria; Aguirre, David; Nieto, Karen; Peña, Yolanda Rocio; Palma, Ícela; Olvera, Jesús Gallegos; Chávez, Lara; Nájera, Nayelli; Kofman‐Alfaro, Susana

doi:10.1159/000138887

Cited by 37 publications

(13 citation statements)

References 56 publications

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“…Germinomas have been associated with specific hereditable syndromes. For example, there is an increased increase incidence of germinoma in Klinefelter, Noonan and Down's [7] syndromes [8,9].…”

Section: Discussionmentioning

confidence: 99%

Management of CNS germinoma

Osorio

Allen

2015

CNS Oncol.

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The following is a general overview of the management of CNS germinomas. Over the last 35 years, CNS germinomas have become one of the pediatric brain tumors with the best outcomes with a greater than 85% overall survival over 5 years. This is in part due to the fact that germinomas are very responsive to chemotherapy and radiation. Some of the major challenges going forward will be to find ways to minimize the adverse effects of our treatments particularly with regard to radiation and to improve the quality of life of patients who develop neurologic, neurocognitive and/or endocrine deficiencies.

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Section: Discussionmentioning

confidence: 99%

Management of CNS germinoma

Osorio

Allen

2015

CNS Oncol.

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“…It is believed that the sex chromosomal aneuploidy in these men leads to early apoptosis of germ cells due to the inability for proper chromosome pairing during meiosis [Wikströ m et al, 2004]. However, men with Klinefelter syndrome have a higher risk of developing a highly aggressive GCC of the mediastinum and brain [Bokemeyer et al, 2002;Völkl et al, 2006;Queipo et al, 2008].…”

Section: Klinefelter As a Separate Groupmentioning

confidence: 99%

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Spoor

Oosterhuis²,

Hersmus³

et al. 2017

Sex Dev

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Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a ‘genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.

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“…However, the frequency of KS among patients with intracranial GCT is not well established. Queipo et al found in a small series of patients with intracranial GCTs (n = 13) that 15% of their cohort had a non-mosaic 47, XXY karyotype [24]. As such, a karyotype should be considered in a male with an intracranial GCT who has features of KS.…”

Section: Intracranial Germ Cell Tumorsmentioning

confidence: 99%

“…Patients who received radiation doses of > 22 Gy to the hypothalamus/pituitary have a decreased rate of pregnancy [73]. Even lower doses of radiation (18)(19)(20)(21)(22)(23)(24) have been associated with decreased fertility in cancer survivors compared to sibling controls [74,75].…”

Section: Gonadal Failure In Girlsmentioning

confidence: 99%

Early and late endocrine effects in pediatric central nervous system diseases

Aslan¹,

Cheung

2014

Journal of Pediatric Rehabilitation Medicine

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Endocrinopathies are frequently linked to central nervous system disease, both as early effects prior to the disease diagnosis and/or late effects after the disease has been treated. In particular, tumors and infiltrative diseases of the brain and pituitary, such as craniopharyngioma, optic pathway and hypothalamic gliomas, intracranial germ cell tumor, and Langerhans cell histiocytosis, can present with abnormal endocrine manifestations that precede the development of neurological symptoms. Early endocrine effects include diabetes insipidus, growth failure, obesity, and precocious or delayed puberty. With improving prognosis and treatment of childhood brain tumors, many survivors experience late endocrine effects related to medical and surgical interventions. Chemotherapeutic agents and radiation therapy can affect the hypothalamic-pituitary axes governing growth, thyroid, gonadal, and adrenal function. In addition, obesity and metabolic alterations are frequent late manifestations. Diagnosing and treating both early and late endocrine manifestations can dramatically improve the growth, well-being, and quality of life of patients with childhood central nervous system diseases.

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Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies

Cited by 37 publications

References 56 publications

Management of CNS germinoma

Management of CNS germinoma

Histological Assessment of Gonads in DSD: Relevance for Clinical Management

Early and late endocrine effects in pediatric central nervous system diseases

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