Population-Based Genomic RET Screening—Reply

Davies, Lousie; Angelos, Peter

doi:10.1001/jamaoto.2023.1577

Cited by 1 publication

(1 citation statement)

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“…As broader testing begins to penetrate healthcare [38 ▪ ], population-wide genomic screening potentially has the value of identifying those individuals who will predictably develop MTC. The question remains, however, whether alterations found through population screening are of the same relevance as those found through directed testing of affected families [39 ▪ ]. This complementary research illustrates the importance of approaching genetic association topics from different angles.…”

Section: Population Based Genomic Rearranged During Transfection Scre...mentioning

confidence: 95%

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: Population Based Genomic Rearranged During Transfection Scre...mentioning

confidence: 95%