Medullary Thyroid Carcinoma in Multiple Endocrine Neoplasm Type II Syndromes

A case of multiple endocrine neoplasm (MEN) type IIa and 2 cases of MEN type IIb are reported. The biological behavior of medullary thyroid carcinoma was more aggressive in the MEN type IIb. C-cell hyperplasia was present in the thyroid gland of the patient with a positive family history.

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Ultrastructure in C cell hyperplasia in asymptomatic patients with hypercalcitoninemia and a family history of medullary thyroid carcinoma

Human Pathology ◽

10.1016/s0046-8177(81)80045-7 ◽

1981 ◽

Vol 12 (7) ◽

pp. 617-622 ◽

Cited By ~ 5

Author(s):

Abdul A. Al Saadi

Keyword(s):

Family History ◽

Thyroid Carcinoma ◽

Medullary Thyroid Carcinoma ◽

Cell Hyperplasia ◽

Medullary Thyroid ◽

C Cell Hyperplasia ◽

C Cell ◽

Asymptomatic Patients ◽

History Of

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Familial Non-Medullary Thyroid Carcinoma in Pediatric Age: Our Surgical Experience

World Journal of Surgery ◽

10.1007/s00268-021-06104-5 ◽

2021 ◽

Author(s):

Claudio Spinelli ◽

Irene Piccolotti ◽

Alessia Bertocchini ◽

Riccardo Morganti ◽

Gabriele Materazzi ◽

...

Keyword(s):

Family History ◽

Thyroid Carcinoma ◽

Medullary Thyroid Carcinoma ◽

Statistical Significance ◽

Positive Family History ◽

Biological Behavior ◽

Medullary Thyroid ◽

Operative Evaluation ◽

Nosological Entity ◽

The University

Abstract Background The purpose of the article was to evaluate the existence of significant clinical, pathological and prognostic differences between familial and sporadic form of pediatric non-medullary thyroid carcinoma, in order to tailor the therapeutic strategy to be adopted for patients with family history. Methods We analyzed the records of 76 pediatric patients that underwent surgery for differentiated thyroid cancer from 2014 to 2019 at the Surgical Pathology Department of the University of Pisa, Italy. Among these, 20 (26,3%) had positive family history (familial non-medullary thyroid carcinoma—FNMTC group) while 56 (73.7%) were affected by sporadic forms (sporadic non-medullary thyroid carcinoma—SNMTC group). Results In our study, the correlation between the FNMTC and the SNMTC group showed no difference in terms of tumor features like multifocality, bilaterality, capsular/extracapsular invasion and the presence of vascular emboli. A statistical significance, on the other hand, was revealed by observation of clinical outcomes, such as distant metastasis (p = 0,022), persistence of disease (p = 0,054) and necessity of radioiodine sessions (p = 0,005). Conclusions These findings suggest that family history may have an independent role on the outcome, expressing its action through an intrinsic more aggressive biological behavior. Therefore, familial non-medullary thyroid carcinoma in children represents a nosological entity that requires an accurate pre-operative evaluation, an adequate surgical strategy and a careful follow up.

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Prevalence of C-cell hyperplasia and medullary thyroid carcinoma in a consecutive series of pheochromocytoma patients

World Journal of Surgery ◽

10.1007/bf01654922 ◽

1984 ◽

Vol 8 (4) ◽

pp. 493-500 ◽

Cited By ~ 11

Author(s):

Svante Jansson ◽

Göran Hansson ◽

Håkan Salander ◽

Gunnar Stenström ◽

Lars -Erik Tisell

Keyword(s):

Thyroid Carcinoma ◽

Medullary Thyroid Carcinoma ◽

Consecutive Series ◽

Cell Hyperplasia ◽

Medullary Thyroid ◽

C Cell Hyperplasia ◽

C Cell

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Calcitonin concentrations in patients with chronic kidney disease and medullary thyroid carcinoma or c-cell hyperplasia

Kidney International ◽

10.1038/sj.ki.5001888 ◽

2006 ◽

Vol 70 (11) ◽

pp. 2014-2020 ◽

Cited By ~ 16

Author(s):

K.A. Borchhardt ◽

H. Heinzl ◽

A. Gessl ◽

W.H. Hörl ◽

K. Kaserer ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Thyroid Carcinoma ◽

Medullary Thyroid Carcinoma ◽

Cell Hyperplasia ◽

Medullary Thyroid ◽

C Cell Hyperplasia ◽

C Cell

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Succinate Dehydrogenase D Variants Do Not Constitute a Risk Factor for Developing C Cell Hyperplasia or Sporadic Medullary Thyroid Carcinoma

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2004-2059 ◽

2005 ◽

Vol 90 (4) ◽

pp. 2127-2130 ◽

Cited By ~ 4

Author(s):

Alberto Cascon ◽

Arancha Cebrian ◽

Marina Pollan ◽

Sergio Ruiz-Llorente ◽

Cristina Montero-Conde ◽

...

Keyword(s):

Risk Factor ◽

Thyroid Carcinoma ◽

Succinate Dehydrogenase ◽

Medullary Thyroid Carcinoma ◽

Cell Hyperplasia ◽

Sporadic Medullary Thyroid Carcinoma ◽

Medullary Thyroid ◽

C Cell Hyperplasia ◽

C Cell

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Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance

Cancers ◽

10.3390/cancers12113268 ◽

2020 ◽

Vol 12 (11) ◽

pp. 3268

Author(s):

Giovanni Innella ◽

Cesare Rossi ◽

Maria Romagnoli ◽

Andrea Repaci ◽

Davide Bianchi ◽

...

Keyword(s):

Family History ◽

Thyroid Carcinoma ◽

Medullary Thyroid Carcinoma ◽

Cancer Genetics ◽

Positive Family History ◽

Risk Class ◽

Medullary Thyroid ◽

Risk Variants ◽

Uncertain Significance ◽

The Difference

Germline RET variants are responsible for approximately 25% of medullary thyroid carcinoma (MTC) cases. Identification of RET variant carriers allows for the adoption of preventative measures which are dependent on the risk associated with the specific alteration. From 2002 to 2020, at our cancer genetics clinic, RET genetic testing was performed in 163 subjects (102 complete gene analyses and 61 targeted analyses), 72 of whom presented with MTC. A germline RET variant was identified in 31.9% of patients affected by MTC (93.8% of those having positive family history and 14.3% of clinically sporadic cases). Subsequent target testing in relatives allowed us to identify 22 asymptomatic carriers, who could undertake appropriate screening. Overall, patients with germline RET variants differed significantly from those who tested negative by family history (p < 0.001) and mean age at MTC diagnosis (44.45 vs. 56.42 years; p = 0.010), but the difference was not significant when only carriers of moderate risk variants were considered (51.78 vs. 56.42 years; p = 0.281). Out of 12 different variants detected in 49 patients, five (41.7%) were of uncertain significance (VUS). For two of these, p.Ser904Phe and p.Asp631_Leu633delinsGlu, co-segregation and genotype/phenotype analysis, matched with data from the literature, provided evidence supporting their classification in the moderate and the highest/high risk class (with a MEN2B phenotype), respectively.

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