Endocrine Tumors

Author(s):  
Yodphat Krausz
Keyword(s):  
2017 ◽  
Author(s):  
Juan J Diez ◽  
Pedro Iglesias ◽  
Teresa Alonso-Gordoa ◽  
Enrique Grande ◽  
Pablo Gajate
Keyword(s):  

2020 ◽  
pp. 11-15
Author(s):  
V. I Pozhar ◽  
O. V. Doroshenko ◽  
M. I. Shevchuk

Multiple endocrine neoplasia is characterized with a predisposition to tumors involving two or more endocrine glands. The four main forms of the disease are inherited as an autosomal dominant syndrome or may occur sporadically. In addition to these four forms, six other syndromes are associated with the presence of multiple endocrine and other neoplasms of the organs: hyperparathyroidism − jaw tumors, Carney complex, von Hippel−Lindau disease, neurofibromatosis type 1, Cowden syndrome and McCune − Albright syndrome. The diagnosis of multiple endocrine neoplasia syndrome can be established in humans by one of the three available criteria: clinical features, family history, genetic analysis. Mutation analysis during these syndromes is useful in clinical practice to confirm the clinical diagnosis; identifying family members who tolerate the mutation and need to be screened, and identifying family members who do not tolerate the mutation. Syndrome of multiple endocrine neoplasia (Wermer syndrome) is characterized by the presence of a triad of tumors, including tumors of the parathyroid glands, pheochromocytoma and tumors of the parathyroid gland. It occurs less frequently in combination with Hirschsprung's disease, caused by the absence of vegetative ganglion cells in the intestine terminal parts, that leads to colonic enlargement, severe constipation and obstruction. This syndrome may be associated with cutaneous lichen amyloidosis, the clinical manifestations of which are pruritus and lichenoid lesions, usually located in the upper back. A clinical case of MEN2 syndrome in a 52−year−old patient is presented. It is noted that for such patients, in addition to timely syndromic rather than component diagnosis of this endocrine multipathology, the spread of neoplastic process in medullary thyroid cancer to its capsule and surrounding tissues, as well as the presence of metastases in peripheral lymph nodes are important. As a rule, such patients cannot be timely cured. Key words: multiple endocrine neoplasia, endocrine tumors, genetic analysis, family history.


2012 ◽  
Vol 23 ◽  
pp. ix378
Author(s):  
T.A. Walter ◽  
E. Baudin ◽  
J.E. Kurtz ◽  
P. Ruszniewski ◽  
L. Bengrine-Lefevre ◽  
...  

1980 ◽  
Vol 135 (3) ◽  
pp. 471-476 ◽  
Author(s):  
NR Dunnick ◽  
JL Doppman ◽  
GW Geelhoed

2006 ◽  
Vol 12 (7) ◽  
pp. 1089-1096 ◽  
Author(s):  
Andrea Frilling ◽  
Massimo Malago ◽  
Frank Weber ◽  
Andreas Paul ◽  
Silvio Nadalin ◽  
...  

1999 ◽  
pp. 475-480 ◽  
Author(s):  
N Hai ◽  
N Aoki ◽  
A Matsuda ◽  
T Mori ◽  
S Kosugi

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome of endocrine tumors involving the parathyroids, anterior pituitary and enteropancreatic neuroendocrine tissues, and is inherited in an autosomal dominant manner. Recently, the gene responsible for this syndrome, MEN1, was positionally cloned in 11q13. We aimed to assess the significance of MEN1 gene diagnostics in families with MEN1. DESIGN: Sixteen probands of familial MEN1 and their 40 family members were subjected to the study. METHODS: Full-length sequencing of the open reading frame and exon-intron boundaries in the MEN1 gene was performed with probands of familial MEN1. Family members were examined for the identified mutation in the proband. RESULTS: We identified heterozygous germline mutations of the MEN1 gene in all of 16 Japanese MEN1 families examined, achieving the highest detectability of MEN1 mutations in familial MEN1 among studies that examined more than 10 families. Eleven kinds of the identified MEN1 germline mutations were novel. More than half were nonsense or frameshift mutations resulting in a premature stop codon (9/15; 60%), and no mutation hot spots or no apparent genotype-phenotype relationships were observed, in support of the results of other studies. We identified 40 mutant MEN1 gene carriers and 16 non-carriers in the course of the present study in those families. CONCLUSIONS: Analysis of the germline mutations in the MEN1 gene, providing significantly useful clinical information to probands and family members of MEN1, should be considered as a standard procedure and categorized as belonging to Group 1 cancer predisposition testing by the American Society of Clinical Oncology.


1997 ◽  
Vol 23 ◽  
pp. S48
Author(s):  
M.J. Varas ◽  
M.D. Maluenda ◽  
J. Boix y J.R. Armengol-Miró ◽  
C.M. Teknon ◽  
C. Quirón ◽  
...  

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