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Diagnostics Cytology, Histology, Microbiology and immunology, Genetics and epigenetics, Omics

Case of the Month

This retroperitoneal tumor was removed from a 30-year-old man known to have a familial tumor syndrome. Another tumor of the same histologic type was found in the carotid body on the left side of the neck. Immunohistochemistry showed positive staining for synaptophysin, chromogranin and CD56. Antibody to S100 reacted with the slender support cells incompletely surrounding the groups of polygonal tumor cells (as shown in the photograph). Which germline gene is most often mutated in this familial tumor syndrome?

A. Succinate dehydrogenase gene
B. Superoxide dismutase gene
C. Cytochrome oxidase gene
D. Tryptaminase gene

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Answer to last issue’s Case of the Month…

B. Tuberculosis

On March 15, 1849, Thomas Addison made a presentation to the members of the South London Medical Society in which he described several men suffering from an unusual disease. Autopsies were performed on three of the patients; all were found to have a “diseased condition of the suprarenal capsules.” Six years later, Addison published a short monograph entitled On the Constitutional and Local Effects of Disease of the Supra-renal Capsules. The figure presented in the previous Case of the Month was reproduced from that monograph; the drawing clearly shows the gross pathology of the enlarged and deformed adrenal glands. In Addison’s time, adrenal insufficiency was almost invariably caused by tuberculosis.

Submitted by Ivan Damjanov, The University of Kansas School of Medicine, Kansas City, USA.

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  1. 1. PMF Bishop, “The history of the discovery of Addison’s disease”, Proc Roy Soc Med, 43, 35–42 (1950).
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