Bilateral testicular metastases of medullary thyroid carcinoma in an adult male with multiple endocrine neoplasia 2A syndrome: case report and review of literature

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Abstract

Introduction

Medullary thyroid cancer (MTC) is a rare endocrine tumor, which can be sporadic or familial, as a component of multiple endocrine neoplasia 2 (MEN2). Overall, 10% of MTC cases have already developed at presentation or will develop metastasis during follow-up. Testicular metastases are exceptional and only one case of unilateral testis involvement by metastatic MTC has been already reported in literature. We described the first known case of asymptomatic bilateral testicular MTC metastases, discovered incidentally at testicular ultrasound (US) performed for unrelated reasons.

Case presentation

A Latin American 32-year-old man with MEN 2A syndrome and metastatic MTC underwent andrological and urological examination due to premature ejaculation. US imaging showed two symmetrical hypoechoic lesions involving both testes. Suspecting a bilateral testicular cancer, the patient underwent excision biopsy of both testicular lesions. Histopathology and immunohistochemical examinations documented metastatic MTC of both testicular lesions.

Conclusion

Beyond its rarity, testis should be considered as a potential metastatic site of MTC, especially in patients with advanced disease.

Established facts

Distant metastases are present at the diagnosis in 10–15% of patients with medullary thyroid carcinoma (MTC).
Testicular metastases are anecdotal. Only one case of unilateral testis involvement by metastatic MTC has been reported in the literature.

Novel insights

Testis should be considered as a possible site of metastases in patients with diffuse metastatic MTC.
Testicular ultrasound could be considered as an useful tool for the evaluation and follow-up of metastatic MTC.

Related collections

Most cited references 37

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A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma.

Cristina Romei, Raffaele Ciampi, Rossella Elisei (2016)

The rearranged during transfection (RET) proto-oncogene was identified in 1985 and, very soon thereafter, a rearrangement named RET/PTC was discovered in papillary thyroid carcinoma (PTC). After this discovery, other RET rearrangements were found in PTCs, particularly in those induced by radiation. For many years, it was thought that these genetic alterations only occurred in PTC, but, in the past couple of years, some RET/PTC rearrangements have been found in other human tumours. 5 years after the discovery of RET/PTC rearrangements in PTC, activating point mutations in the RET proto-oncogene were discovered in both hereditary and sporadic forms of medullary thyroid carcinoma (MTC). In contrast to the alterations found in PTC, the activation of RET in MTC is mainly due to activating point mutations. Interestingly, in the past year, RET rearrangements that were different to those described in PTC were observed in sporadic MTC. The identification of RET mutations is relevant to the early diagnosis of hereditary MTC and the prognosis of sporadic MTC. The diagnostic and prognostic role of the RET/PTC rearrangements in PTC is less relevant but still important in patient management, particularly for deciding if a targeted therapy should be initiated. In this Review, we discuss the pathogenic, diagnostic and prognostic roles of the RET proto-oncogene in both PTC and MTC.

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Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems.

E Kebebew, Daniel Clark, Quan-Yang Duh … (2000)

The clinical courses of patients with medullary thyroid carcinoma (MTC) vary, and a number of prognostic factors have been studied, but the significance of some of these factors remains controversial. The study group consisted of 104 patients with MTC or C-cell hyperplasia managed at the hospitals of the University of California, San Francisco, between January 1960 and December 1998. Patients were classified as having sporadic MTC, familial non-multiple endocrine neoplasia (MEN) MTC, MEN 2A, or MEN 2B. The TNM, European Organization for Research and Treatment of Cancer (EORTC), National Thyroid Cancer Treatment Cooperative Study (NTCTCS), and Surveillance, Epidemiology, and End Results (SEER) extent-of-disease stages were determined for each patient. The predictive values of these staging or prognostic scoring systems were compared by calculating the proportion of variance explained (PVE) for each system. Fifty-six percent of the patients had sporadic MTC, 22% had familial MTC, 15% had MEN 2A, and 7% had MEN 2B. The overall average age at diagnosis was 38 years, and patients with sporadic MTC presented at an older age (P < 0.05). Thirty-two percent of the patients with hereditary MTC were diagnosed by screening (genetic and/or biochemical). These patients had a lower incidence of cervical lymph node metastasis (P < 0.05) and 94.7% were cured at last follow-up (P < 0.0001) compared with patients not screened. Patients with sporadic MTC who had systemic symptoms (diarrhea, bone pain, or flushing) had widely metastatic MTC and 33.3% of those patients died within 5 years. Overall, 49.4% of the patients were cured, 12.3% had recurrent MTC, and 38.3% had persistent MTC. The mean follow-up time was 8.6 years (median, 5.0 years) with 10.7% (n=11) and 13.5% (n=14) cause specific mortality at 5 and 10 years, respectively. Patients with persistent or recurrent MTC who died of MTC lived for an average of 3.6 years (ranging from 1 month to 23.7 years). Patients who had total or subtotal thyroidectomy were less likely to have persistent or recurrent MTC (P < 0.05), and patients who had total thyroidectomy with cervical lymph node clearance required fewer reoperations for persistent or recurrent MTC (P < 0.05) than patients who underwent lesser procedures. In univariate analysis, age, gender, clinical presentation, TNM stage, sporadic/hereditary MTC, distant metastasis, and extent of thyroidectomy were significant prognostic factors. Only age and stage, however, remained independent prognostic factors in multivariate analysis. The TNM, EORTC, NTCTCS, and SEER staging systems were all accurate predictors of survival, but the EORTC prognostic scoring system had the highest PVE in this cohort. Screening for MTC and early treatment (total thyroidectomy with central neck lymph node clearance) had nearly a 100% cure rate. Patients with postoperative hypercalcitoninemia without clinical or radiologic evidence of residual tumor after apparently curative surgery may enjoy long term survival but have occult MTC. Only patient age at presentation and TNM stage were independent predictors of survival. The EORTC criteria, which included the greatest number of significant prognostic factors in our cohort, had the highest predictive value. Copyright 2000 American Cancer Society.

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Diagnosis and Treatment of Early Stage Testicular Cancer: AUA Guideline

Andrew Stephenson, Scott Eggener, Eric Bass … (2019)

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Author and article information

Journal

Journal ID (nlm-ta): Eur Thyroid J

Journal ID (iso-abbrev): Eur Thyroid J

Journal ID (publisher-id): ETJ

Title: European Thyroid Journal

Publisher: Bioscientifica Ltd (Bristol )

ISSN (Print): 2235-0640

ISSN (Electronic): 2235-0802

Publication date (Electronic): 16 February 2022

Publication date Collection: 01 April 2022

Volume: 11

Issue: 2

Electronic Location Identifier: e210016

Affiliations

[1 ]Department of Clinical and Experimental Medicine , Endocrine Unit, University of Pisa, Pisa, Italy

[2 ]Department of Surgical , Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy

[3 ]Division of Urology , Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy

Author notes

Correspondence should be addressed to R Elisei: rossella.elisei@ 123456med.unipi.it

Author information

Francesca Orsolini http://orcid.org/0000-0001-6933-2538

Article

Publisher ID: ETJ-21-0016

DOI: 10.1530/ETJ-21-0016

PMC ID: 8963169

PubMed ID: 35174786

SO-VID: d899025a-bc8c-4c70-8e6a-46d79271421c

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Bilateral testicular metastases of medullary thyroid carcinoma in an adult male with multiple endocrine neoplasia 2A syndrome: case report and review of literature

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