A non-catecholamine-producing sympathetic paraganglioma of the spermatic cord: the importance of performing candidate gene mutation analysis

Abstract

BackgroundCatecholamine-producing tumours are called pheochromocytomas when they are located in the adrenal gland and sympathetic paragangliomas when they are located elsewhere in the abdomen. Rarely these tumours do not produce catecholamines and even more rarely they arise in the spermatic cord. Over the past decade, systematic mutation analysis of apparently sporadic cases of pheochromocytomas and paragangliomas has elucidated the frequent presence of germ line mutations in one of five candidate genes, including RET, VHL, SDHB, SDHC, and SDHD.Clinical history and methodsWe describe a 45-year-old man with a non catecholamine-producing paraganglioma of the spermatic cord. We performed SDHB immunohistochemistry and performed mutation analysis of the SDHB, SDHC, and SDHD genes.ResultsThere was no staining of tumour cells with SDHB immunohistochemistry, indicative of an SDH mutation. Mutation analysis demonstrated a germ line SDHD mutation (p.Val147Met).ConclusionsSystematic mutation analysis is required in paraganglioma patients for the detection of germ line mutations. This should be preceded by SDHB immunohistochemistry to limit the number of genes to be tested.

Testiküler metastatik olmayan paraganglioma: ilk olgu

“…16 Th e formation of testicular paraganglioma can be explained by the presence of dysgenesis and paraganglionic origin during embryogenesis. [5][6][7][8][9][10][11][12][13][14][15][16][17] Paragangliomas present in various parts of the body usually have a good prognosis. Mitotic activity, necrosis and lymphovascular emboli may be among the poor prognostic factors.…”

“…Up to now, nine cases of spermatic cord paraganglioma have been described in the international literature. [5][6][7][8][9][10][11][12][13] In another case, both the testis and the spermatic cord are involved and the tumor was metastatic. 14 When we review these nine literature, there is only one case of paraganglioma that is confined to the testis but not the spermatic cord.…”

Paraganglioma of the spermatic cord: A case report and literature review

“…The second most common location is the Organ of Zuckerkandl at the bifurcation of the aorta or origin of the inferior mesenteric artery. Chromaffin cells are also found in the vagus nerve, carotid bodies, bladder wall, prostate and behind the liver [5]. The majority, 85–90%, of tumors occur in the adrenal glands and 98% are found in the abdomen [3].…”

“…To date there are only 12 cases in the medical literature in which a paraganglioma was found in the spermatic cord [[5], [6], [7], [8], [9], [10], [11], [12], [13], [14], [15], [16]]. The most recent report [14] was the first that displayed a malignant phenotype.…”

“…The other case with a second tumor was the first reported “giant” paraganglioma that had a left paraspinal lung metastasis [14]. There is no report in the literature of any intraoperative hypertensive complications; a minority of paragangliomas express catecholamines systemically [5].…”