Thyroid Nodules in Pediatric Patients With DICER-1 Mutation: A 10-Year Retrospective Study at Centre Hospitalier Universitaire Sainte-Justine

Tuesday, October 1, 2024

10:06 AM – 10:12 AM EDT

Location: MBCC, 244-245

Disclosure(s):

Éolie Delisle, MD:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Céline Huot, MD, FRCPC:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Noemie Rouillard-Bazinet, MD, MSc, FRCSC:

faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Introduction: The genetic mutation DICER-1 predisposes individuals to benign and malignant tumors, including thyroid neoplasms. We aim to better understand demographic characteristics, severity, and types of thyroid cancers to determine if new criteria are needed to guide nodule investigation in DICER-1p individuals.

Methods: For patients with DICER mutations, the recommended approach involves ultrasound followed by fine-needle aspiration (FNA) based on size and Thyroid Imaging Reporting and Data System (TIRADS) score to determine malignancy and guide appropriate treatment. Despite their higher risk due to pro-tumorigenic DICER-1 mutations (DICER-1p), patients with these mutations undergo the same diagnostic standards. While the literature does not advocate for prophylactic thyroidectomy, early FNA of nodules in DICER-1p individuals may prove beneficial for surgical decision-making. Therefore, our team at Sainte-Justine Hospital Center conducted a retrospective review of pediatric patients with DICER-1 and thyroid nodules over the last 10 years.

Results: Out of 157 patients, 7/157 (4.49%) were found to have DICER-1 mutations. On average, these patients had 4.42 nodules, with at least one being TIRADS-3 or higher upon the initial thyroid investigation. They were, on average, 13.8 years old at the time of the FNA. Of the 7, 2 (28.57%) of DICER-1 carriers did not undergo FNA. Among the DICER-1p patients, 3/7 (42.86%) had benign follicular nodules, 1/7 (14.28%) had follicular cancer, and 1/7 (14.28%) had papillary cancer. Only the last two (2/7 or 28.57%) underwent total thyroidectomy and 1/7 (14.28%) received radioactive iodine treatment.

Conclusions: Our research describes the DICER-1p population, highlights the importance of family screening, of multidisciplinary collaboration, and of ENT referral to a tertiary center during the diagnosis of this disease. This information will guide us in adjusting guidelines for early fine-needle aspiration in DICER-1p individuals regarding their potential for thyroid neoplasia.

Presenting Author(s)

Éolie Delisle, MD

Resident
University of Montreal
Montreal, Quebec, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Co-Author(s)

Céline Huot, MD

Professor
Sainte-Justine Hospital Center
Montreal, Quebec, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.
DM

Despoina Manousaki, MD

Assistant Professor
Sainte-Justine Hospital Center
Montreal, Quebec, Canada

Disclosure information not submitted.
Noemie Rouillard-Bazinet, MD, MSc

Associate Professor
Centre Hospitalier Universitaire de Québec, Université Laval
Québec, Quebec, Canada

Disclosure(s):
faculty for this accredited education activity has no relationship(s) with ineligible companies to disclose.

Senior Author(s)

Erika Mercier, MD, MSc

Assistant Professor
Boston Children's Hospital
Boston, Massachusetts, United States

Disclosure information not submitted.