Research Topics
| J A CarneySummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
Massive neonatal adrenal enlargement due to cytomegaly, persistence of the transient cortex, and hyperplasia of the permanent cortex: findings in Cushing syndrome associated with hemihypertrophyJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 36:1452-63. 2012..The pathologic findings were most likely the result of the genetic mutation identified in 1 patient and of an unknown mutation in the remaining 2 patients...
Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutationJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 32:1412-20. 2008..The patient is currently asymptomatic; radiologic study in June 2007 revealed postoperative changes only. None of the patient's primary relatives have had similar tumors...
Familial multiple endocrine neoplasia: the first 100 yearsJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 29:254-74. 2005....
Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A)J Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Surg Pathol 34:547-55. 2010..In the remaining patient, the glands were slightly enlarged primarily owing to a diffuse hyperplasia of the superficial cortex that extended into the epi-adrenal fat...
Gastric mucosal lymphoid follicles: histology, distribution, frequency, and etiologic featuresJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Surg Pathol 34:1019-24. 2010..The follicles were most frequent in the patients with multiple stromal sarcomas (1 follicle/8 mm of mucosa) and least frequent in pediatric patients...
Hyalinizing trabecular tumors of the thyroid gland: quadruply described but not by the discovererJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 32:622-34. 2008..Hyalinizing trabecular carcinoma is a very rare tumor...
Hyalinizing trabecular tumors of the thyroid gland are almost all benignJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 32:1877-89. 2008..We conclude that the overwhelming majority of hyalinizing trabecular tumors of the thyroid behave as benign neoplasms and that, at this time, hyalinizing trabecular adenoma is the most appropriate title for them...
Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndromeJ Aidan Carney
Department of Laboratory Medicine and Pathology, Division of Endocrinology, Diabetes, Nutrition and Metabolism, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Am J Surg Pathol 35:1311-26. 2011..The findings are different from those in inherited or other forms of genetically caused Cushing syndrome. The ninth patient, aged 17 years, had an adrenal adenoma and diffuse cortical hyperplasia in each adrenal gland...
Virilizing ovarian stromal tumor in a young woman with Carney complexJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
Am J Surg Pathol 35:1592-9. 2011..Immunocytochemically, the tumor cells were positive for vimentin, synaptophysin, inhibin-A, and calrenin. Because of the clinical setting in which the neoplasm occurred, it is likely that is occurrence was related to Carney complex...
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumorsJ Aidan Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
J Clin Endocrinol Metab 94:3656-62. 2009..Two young women, each with paraganglioma and gastric stromal tumor, were encountered in the middle 1970s. One also had an adrenal cortical adenoma and the other pulmonary chondroma...
Familial multiple endocrine neoplasia syndromes: components, classification, and nomenclatureJ A Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA
J Intern Med 243:425-32. 1998..To regard these conditions as MEN syndromes would require an inappropriate demotion of their predominant nonendocrine manifestations. The role of nonendocrine disorders in MEN syndromes needs reappraisal...
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triadJ Aidan Carney
Department of Laboratory Medicine and Pathology Emeritus member, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
Am J Med Genet 108:132-9. 2002....
Prevalence and incidence of cytoplasmic yellow bodies in thyroid neoplasmsHarold J Rothenberg
Division of Anatomic Pathology, Mayo Clinic, Rochester, Minn 55905, USA
Arch Pathol Lab Med 127:715-7. 2003..Therefore, cytoplasmic yellow bodies are a useful cytomorphologic indicator of hyalinizing trabecular adenoma of the thyroid gland...
Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in womenL A Boardman
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota 55905, USA
Medicine (Baltimore) 79:293-8. 2000..In particular, the relative risk for cancer in females with IMMP was significantly increased, as is true in females with PJS. However, LKB1 mutations did not contribute to the development of IMMP in the patients tested...
An immunophenotypic comparison of metanephric metaplasia of Bowman capsular epithelium with metanephric adenoma, Wilms tumor, and renal development: a case report and review of the literatureEdgar G Fischer
Department of Laboratory Medicine, Mayo Foundation, Rochester, MN 55905, USA
Am J Clin Pathol 121:850-6. 2004..This immunophenotype parallels that of metanephric adenoma, Wilms tumor, and nephrogenic rests and overlaps with antigen expression in certain periods of renal development...
Achlorhydria, parietal cell hyperplasia, and multiple gastric carcinoids: a new disorderSusan C Abraham
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 29:969-75. 2005....
The clinical conundrum of corticotropin-independent autonomous cortisol secretion in patients with bilateral adrenal massesWilliam F Young
Division of Endocrinology, Department of Radiology, Mayo Clinic Rochester, 200 First Street SW, Rochester, Minnesota 55905, USA
World J Surg 32:856-62. 2008..We report our experience with adrenal venous sampling (AVS) in the evaluation of 10 patients with bilateral masses who had ACTH-independent CS or subclinical CS...
Hyalinizing trabecular adenoma of the thyroid gland: cytologic features in 29 casesMary B Casey
Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 28:859-67. 2004....
Epithelioid gastric stromal tumors (leiomyoblastomas): a study of fifty-five casesJ S Lee
Division of Gastroenterologic and General Surgery, Mayo Clinic, Rochester, MN 55905, USA
Surgery 118:653-60; discussion 660-1. 1995..01). Proximal lesions were more likely to be malignant. Extent of surgical treatment had no effect on survival...
Hyalinizing trabecular adenoma of the thyroid gland identification through MIB-1 staining of fine-needle aspiration biopsy smearsMary B Casey
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Clin Pathol 122:506-10. 2004..Hyalinizing trabecular adenoma can be distinguished reliably from other thyroid neoplasms by MIB-1 staining of destained cells from FNA biopsy specimens...
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartomaFausto J Rodriguez
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 31:1844-53. 2007..They differ pathologically from pulmonary cartilaginous hamartomas on the basis of the presence of a thin fibrous pseudocapsule, frequent bone metaplasia, and calcification, and also the absence of entrapped epithelium and fat...
Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidenceColin G Perry
Department of Medicine (Endocrinology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Am J Surg Pathol 30:42-9. 2006..The paraganglioma-jejunal GIST combination may be the harbinger of a rare genetic syndrome, a variant of the Carney triad or the paraganglioma-gastric stromal sarcoma syndrome, or be coincidental...
Osteochondromyxoma of bone: a congenital tumor associated with lentigines and other unusual disordersJ A Carney
Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA
Am J Surg Pathol 25:164-76. 2001..No tumor metastasized...
Pituitary adenoma in Carney complex: an immunohistochemical, ultrastructural, and immunoelectron microscopic studyO Kurtkaya-Yapicier
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Ultrastruct Pathol 26:345-53. 2002..The lack of morphologic similarity between the 2 adenomas indicatesthat pituitary tumors in patients with Carney complex may not exhibit the same phenotype...
Galectin-3 expression in hyalinizing trabecular tumors of the thyroid glandRobyn L Gaffney
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Am J Surg Pathol 27:494-8. 2003..Our study suggests that the variable pattern of galectin-3 expression may reflect a difference in biologic behavior between HTT and papillary thyroid carcinoma...
Surgery for Cushing's syndrome: an historical review and recent ten-year experienceJohn R Porterfield
Department of Surgery, Mayo Clinic and Mayo Foundation, 200 First Street, S W, Rochester, MN 55905, USA
World J Surg 32:659-77. 2008....
RASSF1A and NORE1A methylation and BRAFV600E mutations in thyroid tumorsNobuki Nakamura
Department of Laboratory Medicine and Pathology, Mayo Clinic Medical College, Rochester, MN 55905, USA
Lab Invest 85:1065-75. 2005..BRAF mutation occurs later in thyroid tumor progression and is restricted mainly to PTC and anaplastic thyroid carcinoma...
Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 casesLizhi Zhang
Department of Laboratory Medicine, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 34:53-64. 2010..Thus, the Carney triad gastric stromal tumor is different clinically, pathologically, and behaviorally from sporadic gastric GIST...
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defectBarbara Pasini
Department of Genetics, Biology, and Biochemistry, University of Turin, Turin, Italy
J Clin Endocrinol Metab 92:3728-32. 2007....
Thyroid gland: international case conferenceKennichi Kakudo
Deparmtent of Pathology, Wakayama Medical University, Kimiidera, Wakayama, Japan
Endocr Pathol 13:131-4. 2002..In this article, we present two of the cases, attempt to explain the reason for disagreement in their diagnoses, and propose what should be done to obtain better consensus in diagnosis...
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumorsLudmila Matyakhina
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
J Clin Endocrinol Metab 92:2938-43. 2007....
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasiaAnelia Horvath
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, US National Institute of Child Health and Human Development, US National Institutes of Health, Bethesda, Maryland 20892, USA
Nat Genet 38:794-800. 2006....
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity?Daniel F Gunther
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development NIH, Building 10, Room 10N262, 10 Center Drive MSC 1862, Bethesda, MD 20892 1862, USA
J Clin Endocrinol Metab 89:3173-82. 2004....
A mouse model for the Carney complex tumor syndrome develops neoplasia in cyclic AMP-responsive tissuesLawrence S Kirschner
Human Cancer Genetics Program, and Division of Endocrinology, Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210, USA
Cancer Res 65:4506-14. 2005....
An asymptomatic, incidentally discovered pulmonary tumor in a 41-year-old womanRajmohan Murali
Department of Tissue Pathology, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Westmead, New South Wales, Australia
Arch Pathol Lab Med 129:e191-4. 2005
Cytokeratin profile and neuroendocrine cells in the glandular component of cardiac myxomaAngela Pucci
Department of Pathology, Regina Margherita Hospital, Torino, Italy
Virchows Arch 443:618-24. 2003....
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: Lionel Groussin
Departments of Endocrinology, Institut Cochin, INSERM U576, CNRS UMR 8104 IFR116, René Descartes Paris V University, France
Am J Hum Genet 71:1433-42. 2002....
Pigmented epithelioid melanocytoma: a low-grade melanocytic tumor with metastatic potential indistinguishable from animal-type melanoma and epithelioid blue nevusArtur Zembowicz
Dermatopathology Unit, Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
Am J Surg Pathol 28:31-40. 2004..We suggest that PEM be considered as a provisional histologic entity encompassing both animal-type melanoma and epithelioid blue nevus...
Observer variation of encapsulated follicular lesions of the thyroid glandMitsuyoshi Hirokawa
Department of Pathology, University of Tokushima School of Medicine, Japan
Am J Surg Pathol 26:1508-14. 2002..To reduce observer variation of encapsulated follicular lesions, it will be necessary to provide more explicit criteria for diagnosis...
Pathology and molecular genetics of the pituitary gland in patients with the 'complex of spotty skin pigmentation, myxomas, endocrine overactivity and schwannomas' (Carney complex)Constantine A Stratakis
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892 1862, USA
Front Horm Res 32:253-64. 2004....
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the populationAnelia Horvath
Section on Endocrinology and Genetics, Developmental Endocrinology Branch, National Institute of Child Health and Human Resources, NIH, Bethesda, MD 20892, USA
Cancer Res 66:11571-5. 2006..We speculate that PDE11A genetic defects may be associated with adrenal pathology in a wider than previously suspected clinical spectrum that includes asymptomatic individuals...
Mutation of perinatal myosin heavy chainConstantine A Stratakis
N Engl J Med 351:2556-8; author reply 2556-8. 2004
Carney triad: case report and molecular analysis of gastric tumorJudith Diment
Department of Pathology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy
Hum Pathol 36:112-6. 2005..The molecular analysis of the GIST, the first reported in a gastric tumor from the triad, showed a wild-type KIT and PDGFRA genes...
Large deletions of the PRKAR1A gene in Carney complexAnelia Horvath
Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA
Clin Cancer Res 14:388-95. 2008..Although a few families map to chromosome 2, it is possible that current sequencing techniques do not detect larger gene changes in PRKAR1A -- mutation-negative individuals with Carney complex...
Molecular profile of hyalinizing trabecular tumours of the thyroid: high prevalence of RET/PTC rearrangements and absence of B-raf and N-ras point mutationsGiuliana Salvatore
Istituto di Endocrinologia ed Oncologia Sperimentale del CNR, c/o Dipartimento di Biologia e Patologia Cellulare e Molecolare, University Federico II, Via S. Pansini 5, 80131 Naples, Italy
Eur J Cancer 41:816-21. 2005..Thus, in clinical practice, the detection of B-raf mutations in a thyroid follicular tumour may prove to be a valuable tool, supplementing histological examination, and allowing a differential diagnosis between PTC and HTT...
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHDBarbara Pasini
Department of Genetics, Biology and Biochemistry, University of Torino, Turin, Italy
Eur J Hum Genet 16:79-88. 2008..We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs...
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindredsLionel Groussin
, , , Paris 5, 75014 Paris, France
J Clin Endocrinol Metab 91:1943-9. 2006..CONCLUSIONS: In conclusion, a small intronic deletion of the PRKAR1A gene is a low-penetrance cause of mainly iPPNAD; it is the first PRKAR1A genetic defect to have an association with a specific phenotype...
Hypodense nodularity on computed tomography: novel imaging and pathology of micronodular adrenocortical hyperplasia associated with myelolipomatous changesNickolas A Courcoutsakis
Department of Diagnostic Radiology, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland 20892-1862, USA
J Clin Endocrinol Metab 89:3737-8. 2004
Carney complexJ Aidan Carney
Am J Surg Pathol 26:393. 2002
