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Current Oncology
Volume 24
Issue 5
10.3747/co.24.3555
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Current Oncology is published by MDPI from Volume 28 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Multimed Inc..
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Article

Papillary Thyroid Carcinoma in a Boy with Familial Tuberous Sclerosis Complex Attributable to a TSC2 Deletion—A Case Report

by
M. Flader
1,
P. Kurzawa
2,
J. Maldyk
3,
J. Sygut
4,
J. Harasymczuk
5,
A. Kropinska
6,
D. Handkiewicz-Junak
6,
B. Jarzab
6,
K. Kotulska
7 and
M. Niedziela
1,*
1
Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Karol Jonscher’s Clinical Hospital, Poznan, Poland
2
Division of Pathomorphology, Karol Jonscher’s Clinical Hospital, Department of Clinical Pathology, Poznan University of Medical Sciences, Poznan, Poland
3
Division of Pathomorphology, Children’s Clinical Hospital, Medical University of Warsaw, Warsaw, Poland
4
Department of Tumor Pathology, Greater Poland Cancer Centre in Poznan, Poznan, Poland
5
Chair and Department of Pediatric Surgery, Traumatology and Urology, Poznan University of Medical Sciences, Poznan, Poland
6
Department of Nuclear Medicine and Endocrine Oncology, Maria Sklodowska-Curie Memorial Cancer Center, and Institute of Oncology, Gliwice Branch, Gliwice, Poland
7
Department of Neurology and Epileptology, The Children’s Memorial Health Institute, Warsaw, Poland
*
Author to whom correspondence should be addressed.
Curr. Oncol. 2017, 24(5), 423-428; https://doi.org/10.3747/co.24.3555
Submission received: 3 July 2017 / Revised: 7 August 2017 / Accepted: 5 September 2017 / Published: 1 October 2017

Abstract

Tuberous sclerosis complex (TSC), a phacomatosis, is a rare genetic disease (autosomal dominant; incidence: 1 in 6,800–17,300) associated with mutations in the TSC1 and TSC2 genes, 70% of which are sporadic. The disease causes benign tumours in the brain, kidneys, heart, lungs, skin, and eyes; thyroid lesions are extremely rare. A 13-year-old euthyroid boy with a hereditary form of TSC (del 4730G in TSC2, also seen in 2 sisters and the father) was admitted to hospital with a thyroid nodule. Physical examination revealed a nodular left lobe with increased consistency. Thyroid ultrasonography revealed a heterogeneous left lobe, predominantly hypoechoic with multiple microcalcifications and the presence of suspicious cervical lymph nodes on the left side. A macrocalcification was observed on the right lobe. Fine-needle biopsy results showed a few groups of cells with discrete atypical characteristics, including abundant cytoplasm, nuclei with conspicuous nucleoli, intra-nuclear inclusions, and nuclear grooves. The patient underwent total thyroidectomy with lymphadenectomy. Histopathology examination confirmed papillary thyroid carcinoma. The coincidence of endocrine neoplasia including thyroid cancer and TSC is rare, and TSC with papillary thyroid carcinoma has never been described in a child. Studies of mutations in the tumour suppressor genes TSC1, TSC2, and STK11, activating the mtor (mammalian target of rapamycin) pathway, might support their role in the pathogenesis of thyroid cancer.
Keywords: children; thyroid cancer; tuberous sclerosis children; thyroid cancer; tuberous sclerosis

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MDPI and ACS Style

Flader, M.; Kurzawa, P.; Maldyk, J.; Sygut, J.; Harasymczuk, J.; Kropinska, A.; Handkiewicz-Junak, D.; Jarzab, B.; Kotulska, K.; Niedziela, M. Papillary Thyroid Carcinoma in a Boy with Familial Tuberous Sclerosis Complex Attributable to a TSC2 Deletion—A Case Report. Curr. Oncol. 2017, 24, 423-428. https://doi.org/10.3747/co.24.3555

AMA Style

Flader M, Kurzawa P, Maldyk J, Sygut J, Harasymczuk J, Kropinska A, Handkiewicz-Junak D, Jarzab B, Kotulska K, Niedziela M. Papillary Thyroid Carcinoma in a Boy with Familial Tuberous Sclerosis Complex Attributable to a TSC2 Deletion—A Case Report. Current Oncology. 2017; 24(5):423-428. https://doi.org/10.3747/co.24.3555

Chicago/Turabian Style

Flader, M., P. Kurzawa, J. Maldyk, J. Sygut, J. Harasymczuk, A. Kropinska, D. Handkiewicz-Junak, B. Jarzab, K. Kotulska, and M. Niedziela. 2017. "Papillary Thyroid Carcinoma in a Boy with Familial Tuberous Sclerosis Complex Attributable to a TSC2 Deletion—A Case Report" Current Oncology 24, no. 5: 423-428. https://doi.org/10.3747/co.24.3555

APA Style

Flader, M., Kurzawa, P., Maldyk, J., Sygut, J., Harasymczuk, J., Kropinska, A., Handkiewicz-Junak, D., Jarzab, B., Kotulska, K., & Niedziela, M. (2017). Papillary Thyroid Carcinoma in a Boy with Familial Tuberous Sclerosis Complex Attributable to a TSC2 Deletion—A Case Report. Current Oncology, 24(5), 423-428. https://doi.org/10.3747/co.24.3555

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