TY - JOUR
TI - Medullary thyroid carcinoma in children: current state of the art and
future perspectives
AU - Kiriakopoulos, Andreas
AU - Dimopoulou, Anastasia
AU - Nastos,
AU - Constantinos
AU - Dimopoulou, Dimitra
AU - Dimopoulou, Konstantina and
AU - Menenakos, Evangelos
AU - Zavras, Nikolaos
JO - Journal of Pediatric Endocrinology & Metabolism
PY - 2022
VL - 35
TODO - 1
SP - 1-10
PB - Walter de Gruyter GmbH
SN - 0334-018X, 2191-0251
TODO - 10.1515/jpem-2021-0502
TODO - children; genetics; medullary thyroid carcinoma; multiple endocrine
neoplasia; treatment
TODO - Medullary thyroid carcinoma (MTC) is a distinct type of malignant
thyroid tumor in cell origin, biological behavior, and natural history.
It accounts for 1.6% of all thyroid cancers and presents either
sporadically or as a hereditary disease, the latter occurring as a part
of multiple endocrine neoplasia (MEN) 2A and MEN2B syndromes or as a
familial MTC disease with no other manifestations. The gene responsible
for the hereditary form is the rearranged during transfection (RET)
gene, a proto-oncogene located to human chromosome 10. Most pediatric
MTC cases have been discovered after genetic testing investigations,
leading to the concept of prophylactic surgery in presymptomatic
patients. Therefore, the genetic status of the child, along with serum
calcitonin levels and ultrasonographic findings, determine the
appropriate age for prophylactic surgical intervention. Nevertheless, a
diagnosis at an early stage of MTC warrants total thyroidectomy and
central lymph node dissection with the addition of lateral/contralateral
lymph node dissection depending on the tumor size, ultrasonographic
evidence of neck disease, or calcitonin levels. Conversely, locally
advanced/unresectable or metastatic MTC is primarily treated with
multikinase inhibitors, while more specific RET inhibitors are being
tested in clinical trials with promising results.
ER -