The timing of total thyroidectomy in RET gene mutation carriers could be personalized and safely planned on the basis of serum calcitonin: 18 years experience at one single center.

Abstract

BACKGROUND:

Medullary thyroid carcinoma (MTC) is a calcitonin (CT)-producing C-cell tumor. In hereditary cases, a germline RET mutation is found in 98% of families. Because MTC is cured only if intrathyroidal, prophylactic thyroidectomy is recommended in the gene carrier (GC).

AIMS:

The aim was to determine whether thyroidectomy performed when stimulated CT becomes detectable is as safe as prophylactic thyroidectomy and to identify the serum CT cutoff able to distinguish intrathyroidal from extrathyroidal MTC.

PATIENTS:

Eighty-four GC were prospectively enrolled; 53 of the 84 underwent total thyroidectomy, one refused surgery, and 30 with normal basal and stimulated CT were under surveillance. The follow-up ranged from 2 to 18 yr.

RESULTS:

GC operated on for elevated stimulated CT included 27 GC with a positive peak CT at the screening and four cases who became positive after 4 yr. All of them had intrathyroidal MTC and no node metastases; all were cured after a mean follow-up of 7.5 yr. Among those operated on for detectable basal CT, intrathyroidal tumors were found when CT was below 60 pg/ml, whereas either node metastases or larger tumors were observed when CT was above 60 pg/ml. No correlation among serum CT, age, and type of RET mutation was observed. Thirty GC were still biochemically negative at the annual control.

CONCLUSIONS:

The time of thyroidectomy in GC with negative CT could be personalized and safely planned when stimulated CT becomes positive, independent of the type of RET mutation and patient's age. In this series, a basal CT below 60 pg/ml was always associated to an intrathyroidal localization of MTC.

• Authors: Rossella Elisei, Cristina Romei, Giulia Renzini, Valeria Bottici, Barbara Cosci, Eleonora Molinaro, Laura Agate, Virginia Cappagli, Paolo Miccoli, Piero Berti, Pinuccia Faviana, Clara Ugolini, Fulvio Basolo, Paolo Vitti, Aldo Pinchera
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 97 Issue 2 Pg. 426-35 (Feb 2012) ISSN: 1945-7197 [Electronic] United States
• PMID: 22162466 (Publication Type: Evaluation Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Calcitonin
• Proto-Oncogene Proteins c-ret
• RET protein, human

Topics

• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Calcitonin (blood)
• Carcinoma, Neuroendocrine
• Child
• Child, Preschool
• Female
• Follow-Up Studies
• Heterozygote
• Humans
• Male
• Middle Aged
• Mutation
• Patient Care Planning
• Patient Safety
• Precision Medicine (methods)
• Proto-Oncogene Proteins c-ret (genetics)
• Retrospective Studies
• Thyroid Neoplasms (blood, epidemiology, genetics, surgery)
• Thyroidectomy (adverse effects, methods, statistics & numerical data)
• Time Factors
• Young Adult