Medullary Thyroid Carcinoma and Population Screening—The Promise and Pitfalls of Genetic Testing

Davies, Louise; Angelos, Peter

doi:10.1001/jamaoto.2022.4196

Cited by 2 publications

(3 citation statements)

References 9 publications

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“…Translational research, knowledge, availability, and affordability of genomic testing have transformed the lives of RET carriers at risk of MEN 2. The promise of precision medicine has been based on the assumption that knowledge of the genetic make-up of individuals will allow physicians to make more specific recommendations based on these genetic profiles and associated risks of various illnesses [40 ▪ ]. In pursuit of a risk-based approach to MEN2 integrating molecular and biomarker results, the needle on population genomic screening and education needs to be moved forward to complete the transition from symptom-based to preventive healthcare [41 ▪ ].…”

Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results

Machens,

Dralle

2023

Current Opinion in Oncology

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Purpose of review Significant advances have transformed our understanding of the molecular biology and natural history of multiple endocrine neoplasia type 2 (MEN2). This progress enacted a paradigm shift with regard to routine neck dissection for medullary thyroid cancer and total adrenalectomy for pheochromoytoma. The purpose of this review is to summarize key molecular and clinical data underpinning the current risk-based approach to MEN2 that integrates molecular and biomarker results. Recent findings Early identification and biochemical monitoring of rearranged during transfection (RET) carriers yield important lead time. Within these ‘windows of opportunity’, total thyroidectomy alone, avoiding incremental morbidity from node dissection; ‘tissue-sparing’ subtotal adrenalectomy, balancing risks of steroid dependency with pheochromocytoma recurrence in adrenal remnants; and parathyroidectomy of enlarged glands only, weighing risks of postoperative hypoparathyroidism against hyperactive parathyroid glands left behind, are adequate therapies. Summary All that is needed to determine a RET carriers’ risk of medullary thyroid cancer, pheochromocytoma and/or primary hyperparathyroidism in the molecular era is patient age, underlying RET mutation, and biomarker levels. As broader testing begins to penetrate healthcare, the needle on population genomic screening and education needs to be moved forward to complete the transition from symptom-based to preventive healthcare.

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Section: Discussionmentioning

confidence: 99%

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results

Machens,

Dralle

2023

Current Opinion in Oncology

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“…The authors’ seminal publication was backed up by a commentary about the “Medullary Thyroid Carcinoma and Population Screening—The Promise and Pitfalls of Genetic Testing,” which included the following statements:…”

mentioning

confidence: 99%

“…“…it will be essential to gather more data about what level of cancer risk warrants the risk of prophylactic surgery.”…”

mentioning

confidence: 99%

Population-Based Genomic RET Screening

Machens

Dralle

2023

JAMA Otolaryngol Head Neck Surg

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Medullary Thyroid Carcinoma and Population Screening—The Promise and Pitfalls of Genetic Testing

Abstract: 1993-2022. Accessed November 29, 2022:// www.ncbi.nlm.nih.gov/books/NBK1116/ 24. Loveday C, Josephs K, Chubb D, et al. p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer.

Cited by 2 publications

References 9 publications

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results

Population-Based Genomic RET Screening

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