Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes

Journal of Endocrinological Investigation

Volumn 24, Issue 5, 2001, Pages 370-383

  Stratakis, C A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Carney complex; Cowden disease; Multiple endocrine neoplasia syndromes; Peutz Jeghers syndrome; Protein kinase A

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE;

ADRENAL CORTEX; ADRENAL MEDULLA; ARTICLE; CARNEY COMPLEX; CLINICAL FEATURE; CLINICAL GENETICS; COWDEN SYNDROME; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; GENE MUTATION; GENETIC SCREENING; GONAD; HUMAN; HYPOPHYSIS; MOLECULAR GENETICS; MULTIPLE ENDOCRINE NEOPLASIA; NEUROFIBROMATOSIS; ONCOGENE RET; PANCREAS; PARATHYROID GLAND; PEUTZ JEGHERS SYNDROME; PROGNOSIS; SIPPLE SYNDROME; THYROID CARCINOMA; VON HIPPEL LINDAU DISEASE;

EID: 0035001830     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03343875     Document Type: Article

References (123)

1. Genetic aspects of adenomatosis of endocrine glands
2. The association of pheochromocytomas with carcinoma of the thyroid gland
3. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
4. The complex of myxomas, spotty pigmentation, and endocrine overactivity
5. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
6. Positional cloning of the gene for multiple endocrine neoplasia-type 1
7. Mutations in the gene encoding the type la regulatory subunit of the protein kinase A (PRKARIA) in patients with Carney complex
8. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome
9. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase
10. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
11. Identification of the von Hippel-Lindau disease tumor suppressor gene
12. Multiple endocrine neoplasia type 2 syndromes: Nomenclature recommendations from the workshop organizing committee
13. Multiple endocrine neoplasia type 1: Clinical and genetic features of the hereditary endocrine neoplasias
14. Multiple endocrine neoplasia type 1
15. Clinical studies of multiple endocrine neoplasia type 1 (MEN1)
16. Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands
17. Multiple endocrine neoplasia type 1: Clinical and genetic topics
18. Clinical significance of hyperparathyroidism in familial multiple endocrine adenomatosis type I (MEA I)
19. Multiple endocrine neoplasia type I: Assessment of laboratory tests to screen for the gene in a large kindred
20. Familial multiple endocrine adenoma-peptic ulcer complex
21. Hyperparathyroidism: A prerequisite for Zollinger-Ellison syndrome in multiple endocrine adenomatosis Type 1 - Report of a further family and a review of the literature
22. Pituitary adenomas of the multiple endocrine neoplasia type I syndrome
23. The natural history of multiple endocrine neoplasia type 1. Highly uncommon or highly unrecognized?
24. Results of treatment of pituitary disease in multiple endocrine neoplasia, type I
25. Pituitary macroadenoma in a 5-year-old: An early expression of multiple endocrine neoplasia type-1
26. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders
27. Multiple endocrine neoplasia-syndromes of the twentieth century
28. RET protooncogene mutations and endocrine neoplasia - A story intertwined with neural crest differentiation
29. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
30. RET in human development and oncogenesis
31. Multiple endocrine neoplasia type 2A associated with cutaneous lichen amyloidosis
32. Molecular analysis of the RET and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease
33. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease
34. Multiple endocrine neoplasias
35. Germline mutations in glial-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
36. Hirschsprung disease in MEN 2A: Increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation
37. Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes
38. Familial Cushing syndrome (Carney complex)
39. Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome
40. Familial Cushing's syndrome with primary adrenocortical microadenomatosis (primary adrenocortical nodular dysplasia)
41. Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity
42. Primary pigmented nodular adrenocortical disease and its associated conditions
43. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: The NAME syndrome
44. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The "LAMB" syndrome
45. Differences between nonfamilial and familial cardiac myxoma
46. The Carney complex with ocular signs suggestive of cardiac myxoma
47. Myxomas of the external ear and their significance
48. Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas
49. Breast imaging findings in the complex of myxomas, spotty pigmentation, endocrine veractivity, and schwannomas (Carney complex)
50. The epithelioid blue nevus. A multicentric familial tumor with important associations, including cardiac myxoma and psammomatous melanotic schwannoma
51. Carney complex: The complex of myxomas, spotty pigmentation, endocrine veractivity, and schwannomas
52. Cushing syndrome due to primary pigmented nodular adrenocortical disease: Findings at CT and MR imaging
53. Studies of the adrenal hyperfunction in 2 patients with atypical Cushing's syndrome
54. Bilaterale kleiknotige adenomatose der nebennierenrinde bei Cushing-Syndrom
55. The development of bilateral adenomatous adrenal hyperplasia in a case of Cushing's syndrome of eighteen years' duration
56. Unusual case of adrenocortical hyperfunction
57. Primary pigmented nodular adrenocortical disease (PPNAD): Re-evaluation of a patient with Carney complex 27 years after unilateral adrenalectomy
58. Periodic Cushing's syndrome in a short boy: Usefulness of the ovine corticotropin releasing hormone test
59. Paradoxical response to dexamethasone assists with the diagnosis of primary pigmented nodular adrenocortical disease (PPNAD)
60. Neurosurgical implications of Carney complex
61. Prolactin secretion abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex)
62. Pituitary tumors in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas" (Carney complex): Evidence for progression from somatomammotroph hyperplasia to adenoma
63. Testicular ultrasound in Carney complex
64. Ovarian cysts in patients with Carney complex: Clinical and genetic studies and evidence for predisposition to cancer
65. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome
66. Ductal adenoma of the breast with tubular features. A probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas
67. Ductal adenoma of the breast
68. Thyroid gland abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, and endocrine overactivity" (Carney complex)
69. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2
70. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex
71. Carney complex, a multiple endocrine neoplasia and familial lentiginosis syndrome: Clinical analysis and linkage to the D2S123 locus (chromosome 2p16)
72. Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas
73. Cytogenetics of a case of cardiac myxoma
74. Cardiac myxoma characterized by clonal telomeric association
75. Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex)
76. Chromosome instability in cultured skin fibroblasts from patients with familial polyposis coli and Peutz-Jeghers syndrome
77. Cytogenetic analysis of intestinal polyps in polyposis syndromes: Comparison with sporadic colorectal adenomas
78. Chromosome instability in lymphocytes from patients affected by or genetically predisposed to colorectal cancer
79. Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene
80. Genetic heterogeneity of familial atrial myxoma syndromes (Carney Complex)
81. A refined genetic, radiation hybrid, and physical map of the Carney complex (CNC) locus on chromosome 2p16; evidence for genetic heterogeneity in the syndrome
82. Cyclic nucleotide-dependent protein kinases
83. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
84. YAC-BAC contig of the Carney complex (CNC) critical region on 2p16 and copy number gain of 2p16 in CNC tumors: Evidence for a novel oncogene?
85. Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci
86. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentation of skin and mucous membrane
87. Generalised intestinal polyposis and melanin spots of the oral mucosa, lips and digits
88. The molecular basis and clinical aspects of Peutz-Jeghers syndrome
89. Localisation of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridisation and targeted linkage analysis
90. Increased risk for cancer in patients with the Peutz-Jeghers syndrome
91. Peutz-Jeghers syndrome: Risks of a hereditary condition. A clinical review
92. Increased risk of cancer in the Peutz-Jeghers syndrome
93. Cancer in Peutz-Jeghers syndrome
94. Peutz-Jeghers syndrome: A clinicopathologic survey of the "Harrisburg family" with a 49-year follow up
95. Hereditary gastrointestinal polyposis and non-polyposis syndromes
96. Cancer and Peutz-Jeghers syndrome
97. Thyroid abnormalities in Peutz-Jeghers syndrome: Report of new observation and review of the literature
98. Mucinous ovarian tumors associated with mucinous adenocarcinomas of the cervix: Clinicopathologic analysis of 16 cases
99. Ovarian sex stromal tumor with annular tubules; review of 74 cases including 27 with Peutz-Jeghers syndrome and 4 with adenoma malignum of the cervix
100. Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome
101. A pericentric inversion of chromosome 6 in a patient with Peutz-Jeghers syndrome and the use of FISH to localize the breakpoints on a genetic map
102. Peutz-Jeghers syndrome maps to chromosome 1p
103. Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jegher's disease
104. Peutz-Jeghers disease: Most, but not all, families are compatible with linkage to 19p13.3
105. Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4
106. Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families
107. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients
108. STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer
109. STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients
110. Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer
111. Genetic heterogeneity in Peutz-Jeghers syndrome
112. Cloning and characterisation of a novel serine/threonine protein kinase expressed in early Xenopus embryos
113. The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase
114. Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity
115. Localization of the gene for Cowden disease to chromosome 10q22-23
116. Genetics of Cowden syndrome: Through the looking glass of oncology
117. Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease
118. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
119. Mutations of PTEN in patients with Bannayan-Riley-Ruvalacaba phenotype
120. Identification of the von Hippel-Lindau (VHL) gene
121. Molecular genetic analysis of von Hippel-Lindau disease
122. Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes