Cushing's disease due to a giant pituitary adenoma in early infancy: CT and MRI features

Maeder, Philippe; Gudinchet, F.; Rillet, B.; Theintz, G; Meuli, Reto

doi:10.1007/bf01403705

Cited by 11 publications

(4 citation statements)

References 13 publications

(17 reference statements)

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“…In addition, based on the description in the reports, it was considered that three further cases probably represented PitB [13, 14, 17]. The clinical presentations and tumor histopathology of each PitB were strikingly similar, but the main predisposing genetic factors were not known.…”

Section: Introductionmentioning

confidence: 99%

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

et al. 2014

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Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1-associated tumor types. Pituitary blastoma (PitB) was identified as a distinct entity in 2008, and is a very rare, potentially lethal early childhood tumor of the pituitary gland. Since the discovery by our team of an inherited mutation in DICER1 in a child with PitB in 2011, we have identified 12 additional PitB cases. We aimed to determine the contribution of germ-line and somatic DICER1 mutations to PitB. We hypothesized that PitB is a pathognomonic feature of a germ-line DICER1 mutation and that each PitB will harbor a second somatic mutation in DICER1. Lymphocyte or saliva DNA samples ascertained from ten infants with PitB were screened and nine were found to harbor a heterozygous germ-line DICER1 mutation. We identified additional DICER1 mutations in nine of ten tested PitB tumor samples, eight of which were confirmed to be somatic in origin. Seven of these mutations occurred within the RNase IIIb catalytic domain, a domain essential to the generation of 5p miRNAs from the 5′ arm of miRNA-precursors. Germ-line DICER1 mutations are a major contributor to PitB. Second somatic DICER1 “hits” occurring within the RNase IIIb domain also appear to be critical in PitB pathogenesis.

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Section: Introductionmentioning

confidence: 99%

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

et al. 2014

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“…This observational study comprised a multi-institutional cohort of 17 patients with pituitary blastoma: updating 14 previously described cases (1)(2)(3)(4)(20)(21)(22)(23)(24)(25)(26)(27)(28) and fully characterizing three additional cases (16)(17)(18). Cases were identified by ongoing literature review, inquiries to leading pituitary experts and case referrals.…”

Section: Design and Study Cohortmentioning

confidence: 99%

“…Since the reports by Sahakitrungruang et al (1 case) and de Kock et al (13 cases), three additional cases of pituitary blastoma have been thoroughly investigated (1)(2)(3)(4)(16)(17)(18)(20)(21)(22)(23)(24)(25)(26)(27)(28). In 2010, Salunke et al reported a 2-month-old female with Cushingoid stigmata since birth, ophthalmoplegia, hemiparesis, and a pituitary tumor diagnosed as a "congenital immature teratoma" (Case 17; Table 1) (30,31); the pathology on review was consistent with pituitary blastoma (16).…”

Section: Recently Investigated Cases Of Pituitary Blastomamentioning

confidence: 99%

Clinical outcomes and complications of pituitary blastoma

Liu¹,

Kelsey²,

Sabbaghian³

et al. 2021

ESPE

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Context: Pituitary blastoma is a rare, dysontogenetic hypophyseal tumor of infancy first described in 2008, strongly suggestive of DICER1 syndrome.Objective: To describe genetic alterations, clinical courses, outcomes, and complications in all known pituitary blastoma cases.Design and Setting: Multi-institutional case series from tertiary pediatric oncology centers.Patients: Children with pituitary blastoma.

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“…No additional hormone overproduction was documented. Maeder et al [15]presented the CT and MRT findings of a 12-month-old girl with a large tumor arising from the sella turcica. The histology revealed an ACTH-secreting pituitary adenoma.…”

Section: Discussionmentioning

confidence: 99%

Cushing’s Disease in a 7-Month-Old Girl due to a Tumor Producing Adrenocorticotropic Hormone and Thyreotropin-Secreting Hormone

List

Sobottka²,

Huebner³

et al. 1999

Pediatr Neurosurg

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We present the case of a 7-month-old baby with Cushing's disease due to an adrenocorticotropic hormone (ACTH)-secreting pituitary adenoma combined with cells producing thyreotropin-secreting hormone (TSH). In MRI scans, a contrast-enhancing lesion was seen inside the pituitary fossa, and it extended into the suprasellar region. On the assumption of a pituitary adenoma, surgery was performed. Corresponding with biochemical findings, histopathological evaluation revealed an ACTH- and TSH-producing tumor. Genetic analysis did not demonstrate an alteration at codon 201 (Arg) and 227 (Glu). To our knowledge, this is the first case described in a child of this age.

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Cushing's disease due to a giant pituitary adenoma in early infancy: CT and MRI features

Cited by 11 publications

References 13 publications

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Clinical outcomes and complications of pituitary blastoma

Cushing’s Disease in a 7-Month-Old Girl due to a Tumor Producing Adrenocorticotropic Hormone and Thyreotropin-Secreting Hormone

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