Multiple Endocrine Neoplasia 2a Presenting with Pheochromocytoma and Pituitary Macroadenoma

Heinlen, Jonathan E.; Buethe, David D.; Culkin, Daniel J.; Slobodov, Gennady

doi:10.5402/2011/732452

Cited by 15 publications

(12 citation statements)

References 14 publications

(17 reference statements)

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“…17 Rare reports of MEN exist in dogs; however, no genetic mutations have been associated with these cases. [18][19][20] Previous reports of dogs with concurrent hyperadrenocorticism and pheochromocytoma exist 21,22 , suggesting that MEN syndrome also occurs in dogs. In the dog of this study, an osteosarcoma of the right distal radius was diagnosed 21 months prior to the presentation with clinical signs of MEN, and this was confirmed on necropsy.…”

Section: Discussionmentioning

confidence: 99%

“…In a recent report, it was suggested that mutations in the genes involved with pheochromocytoma/paraganglioma occurrence are rarely associated with pituitary adenomas, while the gene mutation predisposing to pituitary adenomas (MEN1) can also be associated with pheochromocytoma/paraganglioma . Rare reports of MEN exist in dogs; however, no genetic mutations have been associated with these cases . Previous reports of dogs with concurrent hyperadrenocorticism and pheochromocytoma exist, suggesting that MEN syndrome also occurs in dogs.…”

Section: Discussionmentioning

confidence: 99%

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Paraganglioma, pituitary adenoma, and osteosarcoma in a dog

Robat

Houseright

Murphey³

et al. 2016

Veterinary Clinical Pathol

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An 11-year-old neutered male Alaskan Malamute mixed-breed dog was presented with a complaint of polyuria/polydipsia (PU/PD), weight loss, tachypnea, regurgitation, and a previous history of nontreated osteosarcoma of the right distal radius, diagnosed 21 months prior. On physical examination, an abdominal mass was palpated. The abdominal mass was aspirated and cytologically diagnosed as a neuroendocrine tumor, suspected to be a pheochromocytoma. Laboratory examination revealed a mild anemia and thrombocytopenia, markedly elevated ATP and ALP activities, and moderate hypercalcemia. A low-dose dexamethasone suppression test and endogenous adrenocorticotropic hormone (ACTH) concentration were compatible with pituitary hyperadrenocorticism. On urinalysis, proteinuria was noted as well as a high urine metanephrine/creatinine ratio, consistent with a diagnosis of pheochromocytoma. The dog was treated with supportive care and euthanized 6 months later due to decreasing quality of life. On necropsy, an extra-adrenal pheochromocytoma (paraganglioma) was diagnosed in the caudal abdomen, and a pituitary adenoma and an osteosarcoma of the right distal radius were confirmed.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Paraganglioma, pituitary adenoma, and osteosarcoma in a dog

Robat

Houseright

Murphey³

et al. 2016

Veterinary Clinical Pathol

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“…Mutations in genes causing other familial syndromes may be found and, actually, there is a reported case with mutation in the MEN1 and other case with mutation in the RET gene [65, 70]. …”

Section: Introductionmentioning

confidence: 99%

The genetic background of acromegaly

Gadelha

Korbonits

2017

Pituitary

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Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have been described and recent studies explored the landscape of somatic mutations in sporadic somatotropinomas. This short review concentrates on the current knowledge of the genetic basis of both familial and sporadic acromegaly.

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“…RET gene codes for a transmembrane receptor with tyrosine kinase activity that acts as proto-oncogene [36]. To date, only few case reports have described patients with MEN2A/2B and PAs: GH-secreting (n = 1), ACTH-secreting (n = 1) and non-functioning (n = 1) adenomas [37][38][39]. Furthermore, RET gene mutations do not commonly present in patients with isolated sporadic or familial PAs, suggesting that it is a rare cause of pituitary adenomas [40][41][42].…”

Section: Multiple Endocrine Neoplasia Syndromesmentioning

confidence: 99%

The Genetics of Pituitary Adenomas

Tatsi

Stratakis

2019

JCM

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The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in AIP (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), MEN1 (coding for menin, mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), PRKAR1A (mutated in Carney complex), GPR101 (involved in X-Linked Acrogigantism or X-LAG), and SDHx (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Tumor genetic defects in USP8, GNAS, USP48 and BRAF are some of the commonly encountered tissue-specific changes and may explain a larger percentage of the developed tumors. Somatic (at the tumor level) genomic changes, copy number variations (CNVs), epigenetic modifications, and differential expression of miRNAs, add to the variable genetic background of PAs.

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Multiple Endocrine Neoplasia 2a Presenting with Pheochromocytoma and Pituitary Macroadenoma

Cited by 15 publications

References 14 publications

Paraganglioma, pituitary adenoma, and osteosarcoma in a dog

Paraganglioma, pituitary adenoma, and osteosarcoma in a dog

The genetic background of acromegaly

The Genetics of Pituitary Adenomas

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