Follicular thyroid cancer in a patient with Pendred syndrome

K Lacka; A Maciejewski; B Stawny; J K Lacki

doi:10.1016/j.ando.2021.05.001

Follicular thyroid cancer in a patient with Pendred syndrome

Ann Endocrinol (Paris). 2021 Dec;82(6):622-624. doi: 10.1016/j.ando.2021.05.001. Epub 2021 Jun 9.

Authors

K Lacka¹, A Maciejewski², B Stawny³, J K Lacki⁴

Affiliations

¹ Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland. Electronic address: kktlacka@gmail.com.
² Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
³ Department of Surgery, Poznan University of Medical Sciences, Poznan, Poland.
⁴ Department of Nursing, The Jacob of Paradies University, Gorzow Wielkopolski, Poland; Department of Internal Medicine, University of Zielona Gora, Zielona Gora, Poland.

PMID: 34118212
DOI: 10.1016/j.ando.2021.05.001

Abstract

We present the clinical and molecular studies of a family with Pendred syndrome, in which one affected individual developed follicular thyroid cancer. Two siblings with classic Pendred syndrome triad were operated on because of enormous multinodular goiter. Histopathology showed a follicular thyroid cancer in the male and a multinodular goiter in the female. PDS gene analysis revealed G-to-A transition in the splice donor site of intron 8 (IVS8+1G>A/c.1001+1G>A). Careful surveillance is needed in all cases of thyroid nodules in patients with Pendred syndrome, due to the high risk of malignancy.

Keywords: Cancer de la thyroïde; Goitre multinodulaire; Multinodular Goiter; Mutation du gène PDS; PDS gene mutation; Pendred syndrome; Syndrome de Pendred; Thyroid cancer.

Publication types

Case Reports

MeSH terms

Adenocarcinoma, Follicular / complications*
Adolescent
Female
Goiter
Goiter, Nodular / complications*
Hearing Loss, Sensorineural / complications*
Humans
Male
Mutation
Pedigree
Young Adult

Supplementary concepts

Pendred syndrome
Thyroid cancer, follicular