Rathke's cleft cysts in twins with Type 2C von Hippel-Lindau disease

Huff, Wei; Bonnin, José M.; Fulkerson, Daniel H.

doi:10.3171/2014.5.peds13541

Cited by 4 publications

(3 citation statements)

References 20 publications

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“…In terms of genetic syndromes, an association between Bardet–Biedl syndrome (an autosomal recessive disorder caused by altered ciliary function) and RCCs has been described 211 . Moreover, also type 2C von Hippel‐Lindau (VHL) disease, an autosomal dominant cancer syndrome, has been associated with the occurrence of a RCC 212 . However, a precise pathogenic link between VHL protein dysfunction and RCC onset is yet to be established 212 …”

Section: Rathke Cleft Cystmentioning

confidence: 99%

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A clinical approach to parasellar lesions in the transition age

Sbardella

Puliani

Feola

et al. 2021

J Neuroendocrinology

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Many reviews have summarised the pathology and management of the parasellar region in adult patients, although an analysis of these aspects in the transition years, from puberty onset to the age of peak bone mass, has been lacking. A comprehensive search of English‐language original articles, published from 2000 to 2020, was conducted in the MEDLINE database (December 2019 to March 2020). We selected all studies regarding epidemiology, diagnosis and management of the following parasellar lesions: germinoma, craniopharyngioma, Langerhans cell histiocytosis, optic glioma, hypothalamic hamartoma, tuber cinereum hamartoma, cranial chordoma, Rathke cleft cyst, hypophysitis and hypothalamitis during the transition age from childhood to adulthood. In the present review, we provide an overview of the principal parasellar lesions occurring in the transition age. Symptoms are usually a result of the mass effect of the lesions on nearby structures, as well as anterior pituitary deficits. Diabetes insipidus occurs frequently in these patients. In this age group, pubertal developmental disorders may be more evident compared to other stages of life. Parasellar lesions in the transition age mostly include neoplastic lesions such as germinomas, hamartomas, optic gliomas, craniopharyngiomas Langerhans cell histiocytosis and chordomas, and rarely inflammatory lesions (hypophysitis, hypothalamitis). There are limited data on the management of parasellar lesions in the transition age. Endocrine evaluation is crucial for identifying conditions that require hormonal treatment so that they can be treated early to improve the quality of life of the individual patient in this complex age range. The clinical approach to parasellar lesions involves a multidisciplinary effort.

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Section: Rathke Cleft Cystmentioning

confidence: 99%

“…Moreover, also type 2C von Hippel‐Lindau (VHL) disease, an autosomal dominant cancer syndrome, has been associated with the occurrence of a RCC 212 . However, a precise pathogenic link between VHL protein dysfunction and RCC onset is yet to be established 212 …”

Section: Rathke Cleft Cystmentioning

confidence: 99%

A clinical approach to parasellar lesions in the transition age

Sbardella

Puliani

Feola

et al. 2021

J Neuroendocrinology

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“…Lesions within and around the sella can mimic PAs and might be coincidental, for example, Rathke's cleft cyst in VHL (Huff et al 2014), related to a particular syndrome, such as haemangioblastomas in VHL (Goto et al 2001, Lonser et al 2009, Kanno et al 2013, or the other pathology as in the case of an intrasellar PGL (Boari et al 2006).…”

Section: Figurementioning

confidence: 99%

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas

O'Toole¹,

Dénes²,

Robledo³

et al. 2015

Endocrine-Related Cancer

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The combination of pituitary adenomas (PA) and phaeochromocytomas (phaeo) or paragangliomas (PGL) is a rare event. Although these endocrine tumours may occur together by coincidence, there is mounting evidence that, in at least some cases, classical phaeo/PGL-predisposing genes may also play a role in pituitary tumorigenesis. A new condition that we termed '3Pas' for the association of PA with phaeo and/or PGL was recently described in patients with succinate dehydrogenase mutations and PAs. It should also be noted that the classical tumour suppressor gene, MEN1 that is the archetype of the PA-predisposing genes, is also rarely associated with phaeos in both mice and humans with MEN1 defects. In this report, we review the data leading to the discovery of 3PAs, other associations linking PAs with phaeos and/or PGLs, and the corresponding clinical and molecular genetics.

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