Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort

Valiveru, Ramya C; Agarwal, Gaurav; Agrawal, Vinita; Mayilvaganan, Sabaretnam; Chand, Gyan; Mishra, Anjali; Agarwal, Amit; Mishra, Saroj Kanta; Bhatia, Eesh

doi:10.1007/s00268-021-05993-w

Cited by 4 publications

(2 citation statements)

References 43 publications

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“…However, some scholars point out that this classification method cannot fully reflect the biological behavior of MTC [33]. Studies have shown that ATA guidelines for the classification of RET mutation risk are insufficient to accurately predict biochemical and clinical cure rates, especially in high-risk and intermediate-risk groups [34]. And overall survival after MTC diagnosis and progression to metastasis are similar in patients with high-risk and moderate-risk RET mutations.…”

Section: The Risk Level Of Ret Mutations Involved In Fmtcmentioning

confidence: 99%

Research progress on familial medullary thyroid cancer

Chen¹

2023

Second International Conference on Biological Engineering and Medical Science (ICBioMed 2022)

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Familial medullary thyroid carcinoma is a malignant neurosecretory tumor originating from C cells. It is an autosomal dominant disease, belonging to the branch of hereditary thyroid cancer. At present, the academic understanding of FMTC is deeply into the gene level. Studies show that the point mutation of RET gene is the genetic basis of the pathogenesis of FMTC, and can be used for personalized diagnosis and treatment of patients. Clinically, genetic testing, imaging testing, serum Ctn level detection and other methods are usually applied to diagnose suspected cases. At the same time, surgery is the most effective treatment for FMTC, including preventive surgery and therapeutic surgery. This paper reviews the related research results of FMTC from the perspectives of clinical manifestations, genetic mechanisms, and therapeutic approaches, aiming to comprehensively decipher the development process and current status of this field.

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Section: The Risk Level Of Ret Mutations Involved In Fmtcmentioning

confidence: 99%

Research progress on familial medullary thyroid cancer

Chen¹

2023

Second International Conference on Biological Engineering and Medical Science (ICBioMed 2022)

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“…Once MTC has developed, cure rate and survival rates seem to depend on the disease stage rather than the pathogenic variant. 26 …”

Section: Medullary Thyroid Carcinomamentioning

confidence: 99%

Multiple endocrine neoplasia 2: an overview

Saravana-Bawan

Pasternak

2022

Therapeutic Advances in Chronic Disease

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This review article discusses the diagnosis and treatment of patients with multiple endocrine neoplasia type 2 (MEN2). The most common tumors associated with MEN2 are those of the parathyroid, thyroid, and adrenal glands. Additional manifestations include characteristic clinical phenotypes or features as described in the article. This review provides an overview of clinical manifestations, screening, diagnosis, treatment, and surveillance of patients with MEN2.

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Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades

Hensley,

Hu,

Bassett

et al. 2024

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Sporadic medullary thyroid carcinoma (sMTC) rarely occurs in childhood and no studies have specifically focused on this entity. Objective To describe the clinical presentations and long-term outcomes of a large cohort of children and young adults with sMTC compared with hereditary MTC (hMTC). Methods Retrospective study of 144 patients diagnosed with MTC between 1961-2019 at an age ≤21 years and evaluated at a tertiary referral center. Results In contrast to hMTC (n=124/144, 86%), patients with sMTC (n=20/144, 14%) are older (p<0.0001), have larger tumors (p<0.0001), a higher initial stage grouping (p=0.001) and have more structural disease (p=0.0045) and distant metastases (DM) (p=0.00084) at last follow up, but are not more likely to die from MTC (p=0.42). Among 77 patients diagnosed clinically, not by family history (20/20 sMTC and 57/124 hMTC), there was no difference in the initial stage (p=0.27), presence of DM at diagnosis (p=1.0), disease status at last follow-up (p=0.13), overall survival (p=0.57), or disease specific survival (p=0.87). Of the twelve sMTC tumors that underwent somatic testing, eleven (91%) had an identifiable alteration: ten RET gene alterations and one ALK fusion. Conclusions sMTC is primarily a RET-driven disease that represents 14% of childhood-onset MTC in this cohort. Pediatric sMTC patients are older, present with clinical disease at a more advanced TNM classification, and have more persistent disease at last follow up compared with hMTC, but these differences disappear when comparing those presenting clinically. Somatic molecular testing should be considered in sMTC patients who would benefit from systemic therapy.

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Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort

Cited by 4 publications

References 43 publications

Research progress on familial medullary thyroid cancer

Research progress on familial medullary thyroid cancer

Multiple endocrine neoplasia 2: an overview

Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades

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