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Clinical and molecular features of the Carney complex: diagnostic criteria
and recommendations for patient evaluation.
Stratakis CA, Kirschner LS, Carney JA.
Unit on Genetics and Endocrinology, Developmental Endocrinology
Branch, National Institute of Child Health and Human Development, National
Institutes of Health, Bethesda, Maryland 20892-1862, USA.
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J Clin Endocrinol Metab 2001 Sep;86(9):4041-6 Abstract quote
Carney complex is a multiple neoplasia syndrome featuring cardiac,
endocrine, cutaneous, and neural tumors, as well as a variety of pigmented
lesions of the skin and mucosae. Carney complex is inherited as an autosomal
dominant trait and may simultaneously involve multiple endocrine glands,
as in the classic multiple endocrine neoplasia syndromes 1 and 2.
Carney complex also has some similarities to McCuneAlbright syndrome,
a sporadic condition that is also characterized by multiple endocrine
and nonendocrine tumors. Carney complex shares skin abnormalities and
some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses,
particularly Peutz-Jeghers syndrome, with which it shares mucosal lentiginosis
and an unusual gonadal tumor, large-cell calcifying Sertoli cell tumor.
Careful clinical analysis has enabled positional cloning efforts to
identify two chromosomal loci harboring potential candidate genes for
Carney complex. Most recently, at the 17q22-24 locus, the tumor suppressor
gene PRKAR1A, coding for the type 1alpha regulatory subunit of PKA,
was found to be mutated in approximately half of the known Carney complex
kindreds. PRKAR1A acts a classic tumor suppressor gene as demonstrated
by loss of heterozygosity at the 17q22-24 locus in tumors associated
with the complex. The second locus, at chromosome 2p16, to which most
(but not all) of the remaining kindreds map, is also involved in the
molecular pathogenesis of Carney complex tumors, as demonstrated by
multiple genetic changes at this locus, including loss of heterozygosity
and copy number gain. Despite the known genetic heterogeneity in the
disease, clinical analysis has not detected any corresponding phenotypic
differences between patients with PRKAR1A mutations and those without.
This article summarizes the clinical manifestations of Carney complex
from a worldwide collection of affected patients and also presents revised
diagnostic criteria for Carney complex. In light of the recent identification
of mutations in the PRKAR1A gene, an estimate of penetrance and recommendations
for genetic screening are provided. |
Carney's syndrome: complex myxomas. Report of four cases and review
of the literature.
Edwards A, Bermudez C, Piwonka G, Berr ML, Zamorano J, Larrain
E, Franck R, Gonzalez M, Alvarez E, Maiers E.
Centro Cardiovascular, Hospital Clinico Universidad de Chile,
Av. Santos Dumont 999, Santiago, Chile. |
Cardiovasc Surg 2002 Jun;10(3):264-75 Abstract quote Cardiac
myxomas are rare tumors. They usually appear as a sporadic isolated
condition in the left atrium of middle-aged women with no other coincidental
pathology. Carney and others have described in young people a special
complex group of cardiac myxomas associated to a distinctive complex
pathology, giving identity to the "Syndrome Myxoma" or "Carney's
Syndrome". Four additional cases of this syndrome, treated from
1977 to 1999 at the Hospital Clinico de la Universidad de Chile are
presented here with a comprehensive review of the literature, accumulating
100 cases.
The main features of our cases include the presence of malignant non
cardiac tumors, a familial trend, follow-up of 23 years and an iterative
recurrence in the elder case. To date all patients are tumor free. Reviewing
the literature, patients with Carney's Syndrome were younger, with a
mean age of 26 years and female predominance (62%). Cardiac myxomas
affected the four chambers of the heart: 64% the left atrium; 44% the
right atrium; 14% the left ventricle and 12% the right ventricle. They
were multiple tumors in 41% and involved more than one chamber in 31%,
being synchronous or metachronous.
There was a marked familial trend (52%), a high incidence of recurrence
(20%), with more than one occurring in half the cases. Extra-cardiac
involvement consisted of: 68% pigmented skin lesions, 40% cutaneous
myxomas, 37% adrenal cortical disease, 27% myxoid mammary fibroadenoma
and 34% male patients with testes tumors. A low percentage had pituitary
adenoma, melanotic schwannomas and thyroid disease. The diagnosis is
made when two or more of these criteria are present. In agreement with
these findings the four chambers of the heart should be examined at
surgery for atypical myxoma locations, right atriotomy and combined
superior-transseptal approach improve exposure of the cavities, careful
screening of the first degree family members should be conducted, and
closed short and long term follow up controls are important.
Complex myxoma appears as a multi-systemic disorder, occasionally having
an ominous prognosis and malignant potentiality, and is still undergoing
investigation for better understanding and identification. |
| Cutaneous lentigines |
Majority of patients
Most commonly seen on the face, especially in the periocular and the
perioral regions
May also occur on the ears, trunk, neck, lips (commonly on the vermilion
border), conjunctiva, sclera, vulva, or glans penis |
Testicular tumors in Carney's complex.
Washecka R, Dresner MI, Honda SA.
Department of Urology, Hawaii Kaiser Permanente Medical Center,
Honolulu, Hawaii, USA.
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J Urol 2002 Mar;167(3):1299-302 Abstract quote PURPOSE: Bilateral
sex cord stromal testicular tumors are common in the syndrome of myxoma,
spotty pigmentation and endocrine overactivity (Carney's complex). Large
cell calcifying Sertoli cell tumor is the particular testicular tumor
found in Carney's complex. A clinicopathological review of 26 patients
is presented.
MATERIALS AND METHODS: We report 2 cases of Carney's complex with testicular
tumors. An additional 24 patients with Carney's complex and testicular
tumors were identified by MEDLINE search and review of the literature.
RESULTS: Bilateral testicular tumors were found in 16 patients (61%)
with a familial occurrence in 10 (38%). A testicular mass was the most
common presentation. The associated findings of Carney's complex included
cardiac myxoma in 16 patients, skin myxoma in 16, skin pigmentation
in 15, Cushing's syndrome in 8, acromegaly in 3 and schwannoma in 3.
Excisional biopsy, surveillance, bilateral orchiectomy and unilateral
orchiectomy were performed in 7, 4, 7 and 8 patients, respectively.
CONCLUSIONS: No local tumor recurrence or metastasis has developed
in patients with bilateral and/or multifocal testicular tumors. Excisional
biopsy or surveillance only are treatment options for bilateral testicular
tumors in Carney's complex. |
