Pathology of Multiple Endocrine Neoplasias 2A and 2B: A Review

Padberg, Barbara; Holl, K.; Schröder, S.

doi:10.1159/000182588

Cited by 15 publications

(3 citation statements)

References 15 publications

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“…Polymerase chain reaction and direct nucleotide sequencing Genomic amplicons spanning exons 10, 11, 13, and 16 of the RET protooncogene were created by PCR using the following primer pairs (10)(11)(12)(13) The following temperature cycling conditions were used: 1 "Cold SSCP": Nonradioactive Single-Stranded Conformation Polymorphism analysis "Cold SSCP" analysis was performed as previously de¬ scribed (14). Electrophoretic conditions were temperature optimized for each exon analyzed.…”

Section: Methodsmentioning

confidence: 99%

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RET Mutation Screening in MEN2 Patients and Discovery of a Novel Mutation in a Sporadic Medullary Thyroid Carcinoma

Jhiang

Fithian²,

Weghorst³

et al. 1996

Thyroid

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RET germline mutations were found to predispose to the development of three variants of multiple endocrine neoplasia type 2, MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). We have screened for RET mutations at exons 10, 11, 13, and 16 in leukocyte DNA extracted from 37 individuals, and have identified RET germline mutations in 12 affected individuals from 9 unrelated families. No RET germline mutation was found in 19 individuals with apparent sporadic diseases. We have also screened for RET mutations at exons 10, 11, and 16 in tumor DNA extracted from 13 freshly frozen medullary thyroid carcinomas (MTC). RET mutation was detected in every tumor, either inherited or sporadic, indicating that RET plays an important role in the development of both inherited and sporadic MTC. We initially screened for RET mutations by direct DNA sequencing of the genomic PCR products amplified from patients' leukocyte or tumor DNA. Recently, we utilized the "Cold SSCP" method, nonradioactive single-stranded conformation polymorphism analysis, to screen for RET mutations and have identified a novel mutation, a 6-bp deletion preceding the cysteine-634, in a sporadic MTC.

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Section: Methodsmentioning

confidence: 99%

“…MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 (MEN2) is a dominantly inherited cancer syndrome that affects tissue derived from neural ectoderm (1). MEN2 is charac¬ terized by the occurrence of medullary thyroid carcinoma (MTC) in association with pheochromocytoma.…”

Section: Introductionmentioning

confidence: 99%

RET Mutation Screening in MEN2 Patients and Discovery of a Novel Mutation in a Sporadic Medullary Thyroid Carcinoma

Jhiang

Fithian²,

Weghorst³

et al. 1996

Thyroid

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“…The combination of C-cell adenoma, pheochromocytoma, and multicentric bilateral nodular hyperplasia of the adrenal medulla in this horse is similar to human MEN syndrome. 7,9 Hyperparathyroidism also accompanies some human MEN syndromes (types I and IIa); however, the parathyroid glands were not evaluated in this horse. The pancreatic islets and pituitary gland also were not adequately evaluated.…”

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confidence: 99%

Simultaneous Occurrence of Multiple Neoplasms and Hyperplasias in the Adrenal and Thyroid Gland of the Horse Resembling Multiple Endocrine Neoplasia Syndrome: Case Report and Retrospective Identification of Additional Cases

Cock¹,

Maclachlan²

1999

Vet Pathol

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Abstract. Neoplastic and hyperplastic disorders that affect multiple endocrine tissues in a single individual are well described in humans but less so in domestic animals. Multiple endocrine neoplasia (MEN) in humans is a genetically determined syndrome characterized by the appearance of benign or malignant proliferations within two or more endocrine glands. The primary endocrine tumors that are characteristic of MEN arise from cells that share the capacity for amine precursor uptake and decarboxylation. Here we describe the case of a 22-year-old Thoroughbred mare that died during an unattended parturition and subsequently was presented for necropsy at the University of California, Davis, Veterinary Medical Teaching Hospital. A C-cell (medullary) thyroid adenoma, pheochromocytoma, and multicentric bilateral nodular hyperplasia of the adrenal medulla were present, findings that are remarkably similar to those of human MEN syndrome. Mortality during pregnancy in women with undiagnosed pheochromocytoma is high (approximately 50%), typically because of hypertension and/or hemorrhage associated with catecholamine release from the tumor. Similarly, the mare in this report died of hemorrhage subsequent to parturition. A retrospective evaluation of endocrine tumors in horses that underwent necropsy at the Veterinary Medical Teaching Hospital from 1987 to 1997 was undertaken to identify additional possible cases of MEN in horses. Data from this retrospective evaluation suggest that coexistence of hyperplasias and neoplasias of the thyroid and adrenal glands, similar to MEN syndrome of humans, also occurs with some frequency in the horse.Key words: Horses; multiple endocrine neoplasia; pheochromocytoma; C-cell adenoma.Neoplastic and hyperplastic disorders that affect multiple endocrine tissues in a single individual are well described in humans but less so in domestic animals. In humans, the appearance of benign or malignant proliferations within two or more endocrine glands is nearly always genetically determined and known as multiple endocrine neoplasia (MEN) syndrome. 2,3 Neuronal, muscular, and connective tissue changes occasionally also are associated with MEN. Two distinct forms of MEN are described in humans. 2,3 Type I MEN (Wermer's syndrome) is characterized by hyperparathyroidism, pancreatic islet hyperplasia and/or adenomas, and pituitary gland adenomas. 2,3 Type II MEN has two variants. Type IIa MEN (Sipple's syndrome) is characterized by the occurrence of C-cell (medullary) carcinoma, hyperparathyroidism, and pheochromocytoma. 2,3 Hyperparathyroidism is absent in type IIb MEN, but C-cell carcinoma and pheochromocytoma are accompanied by extraendocrine changes, including marfanoid body habitus and multiple mucosal neuromas or ganglioneuromas. 2,3 We describe the case of a horse with multiple hyperplastic and neoplastic proliferations in the thyroid and adrenal glands similar to those found in human MEN syndrome.A 22-year-old Thoroughbred mare was presented for necropsy at the University of California, Davis, V...

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Multiple Endocrine Neoplasia Syndromes

Racine

Thomas

2013

Pediatric Endocrinology

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Pathology of Multiple Endocrine Neoplasias 2A and 2B: A Review

Abstract: This review describes recent findings on the morphology, function and prognosis of lesions associated with the MEN 2 syndromes. Special emphasis is placed on the analogies and discrepancies between the hereditary and nonhereditary manifestations of the endocrine proliferations involved.

Cited by 15 publications

References 15 publications

RET Mutation Screening in MEN2 Patients and Discovery of a Novel Mutation in a Sporadic Medullary Thyroid Carcinoma

RET Mutation Screening in MEN2 Patients and Discovery of a Novel Mutation in a Sporadic Medullary Thyroid Carcinoma

Simultaneous Occurrence of Multiple Neoplasms and Hyperplasias in the Adrenal and Thyroid Gland of the Horse Resembling Multiple Endocrine Neoplasia Syndrome: Case Report and Retrospective Identification of Additional Cases

Multiple Endocrine Neoplasia Syndromes

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