Carney’s Complex in a Patient with Hormone-Producing Sertoli Cell Tumor of the Testicle

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

“…Historically, the complex described the association of: ( a ) primary pigmented nodular adrenocortical disease (PPNAD), a pituitary-independent, primary adrenal form of hypercortisolism, ( b ) lentigines, ephelides and blue nevi of the skin and mucosae, and ( c ) a variety of nonendocrine and endocrine tumors (1). The latter include myxomas of the skin (2), heart (3-5), breast (6), and other sites (7)(8)(9)(10), psammomatous melanotic schwannoma (11,12), growth hormone-producing pituitary adenoma (13), testicular Sertoli cell tumor (14), and possibly other benign and malignant neoplasms, including tumors of the thyroid gland and ductal adenoma of the breast (1,15). Although the existence of the complex as an unrecognized, inherited syndrome was first suggested in 1985 (16,17), combinations of several components of the syndrome, and their familial occurrence had been reported earlier.…”

Carney complex and the familial lentiginosis syndromes: link to inherited neoplasias and developmental disorders, and genetic loci

“…Although hamartoma are not generally regarded as premalignant lesions, patients with PJS demonstrate gastrointestinal and other malignancies at an excessive rate [ 11, 12]. PJS shares with Carney complex the large, multicentric Sertoli cell tumours, which can produce oestradiol leading to gynaecomastia and/or heterosexual precocity in boys [ 13]. The two syndromes also share an increased incidence of ovarian and thyroid tumours.…”

Evidence for a second genetic locus in Carney complex

“…160980) is an autosomal dominant familial lentiginosis syndrome characterized by a combination of primary pigmented nodular adrenocortical disease (PPNAD), 1 centrofacial pigmentation, myxomas of the skin, 2 breast 3 and heart, 4 endocrine neoplasia (especially Sertoli cell tumour), 5 growth hormone-secreting pituitary adenoma 6 and an unusual tumour of nerve cell origin: psammomatous melanotic schwannoma (PMS). 160980) is an autosomal dominant familial lentiginosis syndrome characterized by a combination of primary pigmented nodular adrenocortical disease (PPNAD), 1 centrofacial pigmentation, myxomas of the skin, 2 breast 3 and heart, 4 endocrine neoplasia (especially Sertoli cell tumour), 5 growth hormone-secreting pituitary adenoma 6 and an unusual tumour of nerve cell origin: psammomatous melanotic schwannoma (PMS).…”

“…Carney complex (MIM no. 160980) is an autosomal dominant familial lentiginosis syndrome characterized by a combination of primary pigmented nodular adrenocortical disease (PPNAD), 1 centrofacial pigmentation, myxomas of the skin, 2 breast 3 and heart, 4 endocrine neoplasia (especially Sertoli cell tumour), 5 growth hormone-secreting pituitary adenoma 6 and an unusual tumour of nerve cell origin: psammomatous melanotic schwannoma (PMS). 7 Linkage analysis is an approach used to detect the chromosomal location of an unknown gene by comparing the inheritance of the disease with the inheritance of a known genetic marker.…”