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      Testicular swelling leading to a diagnosis of adrenocortical carcinoma – co-incidence or causation?

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          Abstract

          Summary

          Adrenocortical carcinoma (ACC) is a rare malignancy with an incidence of 0.7–2.0 cases/million/year. A majority of patients present with steroid hormone excess or abdominal mass effects, and in 15% of patients ACC is discovered incidentally. We present a case of 30-year-old otherwise asymptomatic Caucasian male who presented with a testicular swelling. Subsequent imaging and investigations revealed disseminated sarcoidosis and an 11 cm adrenal lesion. An adrenalectomy was performed. Histological examination of the resected specimen confirmed an ACC and also demonstrated a thin rim of adrenal tissue containing non-caseating granulomas, consistent with adrenal sarcoid.

          Learning points
          • This case highlights an unusual presentation of two uncommon diseases.

          • This case also highlights how separate and potentially unrelated disease processes may occur concomitantly and the importance, therefore, of keeping an open mind when dealing with unusual diagnostic findings.

          • We also hypothesize a potential link between the ACC and sarcoidosis in our patient.

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          Most cited references10

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          Statement on sarcoidosis. Joint Statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG) adopted by the ATS Board of Directors and by the ERS Executive Committee, February 1999.

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            Adrenocortical carcinoma (ACC): diagnosis, prognosis, and treatment

            Adrenocortical carticnoma (ACC) is a rare malignancy with an incidence of 0.7–2.0 cases/million habitants/year. The diagnosis of malignancy relies on careful investigations of clinical, biological, and imaging features before surgery and pathological examination after tumor removal. Most patients present with steroid hormone excess or abdominal mass effects, but 15% of patients with ACC is initially diagnosed incidentally. After the diagnosis, in order to assess the ACC prognosis and establish an adequate basis for treatment decisions different tools are proposed. The stage classification proposed by the European Network for the Study of Adrenal Tumors (ENSAT) is recommended. Pathology reports define the Weiss score, the resection status and the proliferative index, including the mitotic count and the Ki67 index. As far as the treatment is concerned, in case of tumor limited to the adrenal gland, the complete resection of the tumor is the first option. Most patients benefit from adjuvant mitotane treatment. In metastatic disease, mitotane is the cornerstone of initial treatment, and cytotoxic drugs should be added in case of progression. Recently, the First International Randomized (FIRM-ACT) Trial in metastatic ACC reported the association between mitotane and etoposide/doxorubicin/cisplatin (EDP) as the new standard in first line treatment of ACC. In last years, new targeted therapies, including the IGF-1 receptor inhibitors, have been investigated, but their efficacy remains limited. Thus, new treatment concepts are urgently needed. The ongoing “omic approaches” and next-generation sequencing will improve our understanding of the pathogenesis and hopefully will lead to better therapies.
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              Epidemiology of sarcoidosis: current findings and future directions

              Sarcoidosis is a granulomatous inflammatory disease with unknown etiology. Epidemiological studies have contributed greatly to our knowledge about sarcoidosis, providing critical information on the determinants and distribution of the disease. In this review, we summarize recently published findings from epidemiological studies on sarcoidosis. We review the epidemiological tools used, the incidence and prevalence of disease, mortality and cancer risk after sarcoidosis and nongenetic risk factors for sarcoidosis. Genetics studies have not been included as they deserve a separate review. Leveraging existing epidemiological data to conduct etiological studies aimed towards understanding and preventing disease is critical for future sarcoidosis research.

                Author and article information

                Journal
                Endocrinol Diabetes Metab Case Rep
                Endocrinol Diabetes Metab Case Rep
                EDM
                Endocrinology, Diabetes & Metabolism Case Reports
                Bioscientifica Ltd (Bristol )
                2052-0573
                01 June 2021
                2021
                : 2021
                : 20-0177
                Affiliations
                [1 ]Academic Department of Endocrinology , Royal College of Surgeons of Ireland
                [2 ]Departments of Radiology , Respiratory Medicine, and Histopathology, Connolly Hospital, Blanchardstown, Dublin, Ireland
                Author notes
                Correspondence should be addressed to M Batool; Email: mariabatool25@ 123456hotmail.com
                Article
                EDM200177
                10.1530/EDM-20-0177
                8240723
                34156349
                40548e8e-b6f4-4c0f-a252-a88958da4365
                © The authors

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License..

                History
                : 02 April 2021
                : 01 June 2021
                Categories
                Adult
                Male
                White
                Ireland
                Adrenal
                Adrenal
                Unique/Unexpected Symptoms or Presentations of a Disease
                Unique/Unexpected Symptoms or Presentations of a Disease

                adult,male,white,ireland,adrenal,unique/unexpected symptoms or presentations of a disease,june,2021

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