scholarly journals The correlation between the expression of ATF4 and procalcitonin combined with the detection of RET mutation and the pathological stage and clinical prognosis of medullary thyroid carcinoma

2021 ◽  
pp. 1-7
Author(s):  
Shihong Ma ◽  
Hui Wang ◽  
Wanling Li ◽  
Zhe Yan ◽  
Xuanming Luo ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Nodular Goiter ◽  
Cancer Tissue ◽  
Mutation Site ◽  
Clinical Prognosis ◽  
Medullary Thyroid ◽  
Ret Mutation ◽  
Activating Transcription Factor 4 ◽  
Activating Transcription Factor

To explore the correlation between the activating transcription factor 4 (ATF4) and procalcitonin (PCT) expressions combined with RET mutation and the pathological staging and clinical prognosis of sporadic medullary thyroid carcinoma (SMTC). Fifty cases (tumor tissue) of SMTC diagnosed by clinicopathology were collected and the patients with nodular goiter were selected as normal control. The RET mutation site was analyzed by detection kit and expressions of PCT and ATF4 in SMTC were analyzed by Western blot and immunohistochemistry. Multiple linear regression was used to analyze the correlation of risk factors (PCT or ATF4 expression, RET mutation, tumor differentiation, SMTC stage, lymphatic metastasis) for 5-year recurrence and survival of SMTC. The ATF4 and PCT expressions were significantly decreased and increased, respectively, with the increase of the SMTC stage. The most frequent mutation of RET gene in cancer tissue was M 22458A in exon 16. The ATF4 and PCT expressions, as well as RET mutation, were significantly associated with a 5-year recurrence, while the ATF4 expression was significantly related to better 5-year survival. ATF4 and PCT expressions combined with RET mutation are related to the clinical prognosis of SMTC and can predict SMTC staging.

scholarly journals In Vivoandin VitroCharacterization of a Novel Germline RET Mutation Associated with Low-Penetrant Nonaggressive Familial Medullary Thyroid Carcinoma

2006 ◽  
Vol 91 (3) ◽  
pp. 754-759 ◽  
Author(s):  
Leonardo D’Aloiso ◽  
Francesca Carlomagno ◽  
Michele Bisceglia ◽  
Suresh Anaganti ◽  
Elisabetta Ferretti ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma ◽  
Ret Mutation

The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

2014 ◽  
Vol 39 (3) ◽  
pp. 505-512 ◽  
Author(s):  
Xiao-Ping Qi ◽  
Rong-Xin Zhang ◽  
Jin-Lin Cao ◽  
Zhen-Guang Chen ◽  
Hang-Yang Jin ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Chinese Han ◽  
Medullary Thyroid ◽  
Familial Medullary Thyroid Carcinoma ◽  
Ret Mutation

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

Thyroid ◽  
1996 ◽  
Vol 6 (2) ◽  
pp. 115-121 ◽  
Author(s):  
SISSY M. JHIANG ◽  
LINDA FITHIAN ◽  
CHRISTOPHER M. WEGHORST ◽  
ORLO H. CLARK ◽  
JAMES M. FALKO ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Novel Mutation ◽  
Mutation Screening ◽  
Sporadic Medullary Thyroid Carcinoma ◽  
Medullary Thyroid ◽  
Ret Mutation

scholarly journals Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians

2008 ◽  
Vol 52 (8) ◽  
pp. 1393-1398 ◽  
Author(s):  
Cleber P. Camacho ◽  
Ana O. Hoff ◽  
Susan C. Lindsey ◽  
Priscila S. Signorini ◽  
Flávia O. F. Valente ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Late Diagnosis ◽  
Medullary Thyroid ◽  
Ret Mutation ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type ◽  
History Of

BACKGROUND: The hereditary form of medullary thyroid carcinoma may occur isolated as a familial medullary thyroid carcinoma (FMTC) or as part of Multiple Endocrine Neoplasia 2A (MEN2A) and 2B (MEN2B). MEN2B is a rare syndrome, its phenotype may usually, but not always, be noted by the physician. In the infant none of the MEN2B characteristics are present, except by early gastrointestinal dysfunction caused by intestinal neuromas. When available, genetic analysis confirms the diagnosis and guides pre-operative evaluation and extent of surgery. Here we report four cases of MEN2B in which the late diagnosis had a significant impact in clinical evolution and, potentially, in overall survival. CASE REPORT: We report four cases, 2 men and 2 women, with differences in their phenotypes and with a late diagnosis. The first case has a history of severe gastrointestinal obstruction requiring a surgery intervention two days after his birth. The second told had nodules in the oral mucosa and constipation since childhood. The third case referred a history of constipation from birth until 5 months of life. The fourth has had a history of chronic constipation since childhood. DISCUSSION: New concepts have emerged since the RET oncogene was identified in 1993 as the responsible gene for hereditary medullary thyroid carcinoma. The majority of MEN2B individuals have M918T mutation in the exon 16 of RET, with a few cases having a mutation A883F or the association of V804M with E805K, Y806C or S904C mutations. The consensus classifies the RET mutation in codon 918 as of highest risk and recommends total thyroidectomy and central lymph node dissection until 6 months after birth. A fast and precise diagnosis is essential to reach these goals. The identification of early manifestations such as intestinal ganglioneuromatosis and oral mucosal neuromas should prompt the physician to initiate an investigation for multiple endocrine neoplasia type 2B. CONCLUSION: The diagnosis of MEN2B is very important to allow appropriate investigation of associated diseases and to allow counseling and appropriate screening of relatives for a RET mutation. Even patients with MEN2B, which often have typical physical features, may not be properly recognized and be followed as a sporadic case. Based on this, all suspicious cases of multiple endocrine neoplasia should undergo a molecular genetic test.

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