Psammomatous melanotic schwannoma. A new cutaneous marker for Carney's complex

Utiger, C. A.

doi:10.1001/archderm.129.2.202

Cited by 18 publications

(23 citation statements)

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“…PMS has frequent calcification and multicentricity with heavy pigmentation and may be located anywhere in the central or peripheral nervous system 46, 47 . The most frequent sites are in the gastrointestinal tract (esophagus, stomach, liver and rectum) and in the paraspinal sympathetic chain (28%) 11, 48 . The chest wall, with involvement of adjacent ribs, is the third most common site 31 .…”

Section: Clinical Featuresmentioning

confidence: 99%

Carney complex: an update

Correa¹,

Salpea²,

Stratakis³

2015

European Journal of Endocrinology

331

348

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Carney Complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22–24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment, and molecular etiology including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing’s syndrome.

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Section: Clinical Featuresmentioning

confidence: 99%

Carney complex: an update

Correa¹,

Salpea²,

Stratakis³

2015

European Journal of Endocrinology

331

348

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“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Stratakis

Carney²,

Lin³

et al. 1996

J. Clin. Invest.

429

217

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Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. The genetic defect(s) responsible for the complex remain(s) unknown. We studied 101 subjects, including 51 affected members, from 11 North American kindreds with Carney complex. Blood samples were collected from patients and their family members. Hospital records, photographs, and tissue specimens of deceased individuals were reviewed. DNA was extracted from blood samples, patient-derived cell lines, and/ or paraffin-embedded tissues. Linkage analysis was performed with highly polymorphic microsatellite markers, distributed over areas of the human genome harboring the most likely candidate genes. The most prevalent clinical manifestation in patients with Carney complex was spotty skin pigmentation, similar to that observed in Peutz-Jeghers and other lentiginosis syndromes. Skin and cardiac myxomas, Cushing syndrome, and acromegaly were present in 62, 30, 31, and 8 percent of the patients, respectively. Linkage was obtained for three markers on the short arm of chromosome 2 (2p16), with a maximum two-point lod score of 5.97 at ϭ 0.03 for the marker CA-2 (odds in favor of linkage 10 6 :1). The flanking markers CA7 and D2S378 defined a region of ‫ف‬ 6.4 cM that is likely to contain the gene(s) associated with Carney complex. Candidate genes in the proximity, including the propiomelanocortin and the DNA-mismatch repair hMSH2 genes, were excluded. We conclude that the genetic defect(s) responsible for Carney complex map(s) to the short arm of chromosome 2 (2p16). This region has exhibited cytogenetic aberrations in atrial myxomas associated with the complex, and has been characterized by microsatellite instability in human neoplasias.

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“…13 Histologically, PMS exhibit positive staining for melanocytic markers such as S100 and HMB-45 13 (Figure 3C), however these are distinct from melanoma and melanocytoma, 21 and may be distinguished by the presence of psammoma bodies and fat cells in PMS, which are not found in melanoma. 22 The rate of metastasis of PMS has been variable among research studies, and a recent report proposed that PMS exhibits characteristics of malignant tumors and therefore classification as a variant of schwannoma may be a misnomer. 23 In a series of patients with PMS followed over decades, there were instances of distant metastasis and recurrence of excised lesions, and a few patients succumbed to metastatic disease.…”

Section: Case Reportmentioning

confidence: 99%