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Case Reports
. 2025 Jan 18;17(1):e77621.
doi: 10.7759/cureus.77621. eCollection 2025 Jan.

Nodular Goiter as the Presenting Symptom of DICER1 Tumor Predisposition Syndrome

Drew Burgess  1 , Felicia Cooper  2 , Rhea Birusingh  3 , Shilpa Gurnurkar  2
Affiliations
Case Reports

Nodular Goiter as the Presenting Symptom of DICER1 Tumor Predisposition Syndrome

Drew Burgess et al. Cureus. .

Abstract

In the context of pediatric thyroid disorders, a goiter may serve as an indication of a thyroid tumor in rare instances. In even more unusual scenarios, the cancer can exhibit features of two different categories of carcinoma types. This presentation may suggest a familial tumor syndrome. We present a previously healthy child with an unusual thyroid tumor histology that led to genetic testing and a diagnosis of DICER1 syndrome, an incredibly rare genetic disorder.

Keywords: dicer1; goiter; pediatric; thyroid; tumor.

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Conflict of interest statement

Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. First thyroid ultrasound
A. Transverse view of the thyroid gland showing a multinodular goiter; B. Left thyroid lobe nodules, the largest of which measures 5.2 cm; C. Right thyroid nodules, the largest of which measures 2.0 cm
Figure 2
Figure 2. Second thyroid ultrasound
A. Transverse view of the thyroid gland showing a multinodular goiter; B. Left thyroid lobe nodules, the largest of which measures 2.6 cm; C. Right thyroid lobe nodules, the largest of which measures 3.8 cm
Figure 3
Figure 3. Histology of thyroid tissue obtained during total thyroidectomy
A. Medium-power view showing infiltrative growth of squamous morules of tumor cells (hematoxylin and eosin stain); B. High-power magnification view of solid areas of tumor with cribriform pattern (hematoxylin and eosin stain); C. High-power magnification view showing diffuse and strong nuclear and cytoplasmic staining of infiltrating tumor cells (beta-catenin immunohistochemical stain)
See this image and copyright information in PMC

References

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