|2.||Multiple Hamartoma Syndrome (Cowden's Disease)
|3.||Neurofibromatosis 1 (Neurofibromatosis Type I)
|4.||Tuberous Sclerosis (Bourneville's Disease)
|5.||Basal Cell Nevus Syndrome (Gorlin Syndrome)
|1.||Eng, Charis: 26 articles (12/2015 - 06/2002)|
|2.||Waite, Kristin A: 5 articles (05/2008 - 03/2003)|
|3.||Ngeow, Joanne: 4 articles (03/2015 - 11/2012)|
|4.||He, Xin: 4 articles (01/2015 - 01/2011)|
|5.||Mester, Jessica: 4 articles (12/2014 - 12/2010)|
|6.||Pilarski, Robert: 4 articles (02/2014 - 08/2003)|
|7.||Nosé, Vânia: 4 articles (01/2012 - 11/2010)|
|8.||Eng, C: 4 articles (09/2008 - 10/2000)|
|9.||Ni, Ying: 3 articles (01/2015 - 01/2011)|
|10.||Wang, Yu: 3 articles (05/2013 - 01/2011)|
|2.||PTEN Phosphohydrolase (PTEN Phosphatase)IBA
10/22/1998 - "PTEN is widely expressed, and Cowden disease consistently affects various organ systems, suggesting that the PTEN protein must have an important, although as yet poorly understood, function in cellular physiology. "
06/15/2006 - "Our study sheds some light on the mechanisms that regulate PTEN protein stability, which is important to fully elucidate to comprehend the broad neoplastic manifestations of Cowden syndrome/Bannayan-Riley-Ruvalcaba and sporadic cancers."
01/01/2001 - "The involvement of PTEN in human mammary oncogenesis has been implicated from studies showing that germline PTEN mutation in Cowden disease predisposes to breast cancer, the frequent loss of heterozygosity at the PTEN locus, and reduced PTEN protein levels in sporadic breast cancers. "
07/01/2011 - "This case report outlines a rare case in Cowden syndrome and PTEN (phosphatase and tensin homolog) gene mutation and how it may initially present to the urologist. "
08/01/2009 - "Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. "
|3.||Sirolimus (Rapamycin)FDA Link
04/01/2014 - "Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies."
09/01/2008 - "Furthermore, when administered before disease manifestation, rapamycin can halt the development of Cowden's disease-like lesions, thereby prolonging animal survival. "
09/01/2008 - "Chemoprevention and treatment of experimental Cowden's disease by mTOR inhibition with rapamycin."
09/01/2008 - "These findings suggest that mTOR inhibition with rapamycin may represent a suitable therapeutic option for the chemoprevention and treatment of Cowden disease patients and others tumor syndromes that involve defective PTEN function."
10/01/2011 - "Dysregulation and hyperactivation of the mammalian target of rapamycin (mTOR) pathway define the molecular basis of the hamartoma syndromes, including Cowden syndrome, tuberous sclerosis complex (TSC)/lymphangioleiomyomatosis, and Peutz-Jeghers syndrome. "
|4.||Proteins (Proteins, Gene)IBA
05/01/1988 - "The NF protein immunoreactivity of hypertrophic granule cells was indistinguishable from that of large, NF-rich neurons in control human cerebellum, suggesting that a normal pattern of expression and phosphorylation of NF proteins occurs in hypertrophic granule cells in Lhermitte-Duclos disease. "
05/01/1988 - "The expression of neurofilament (NF) proteins was examined in the surgical specimen from a 42-year-old woman with Lhermitte-Duclos disease. "
05/01/1988 - "An increased expression of NF proteins by cerebellar granule cells may account for many of the observed alterations of Lhermitte-Duclos disease, including the hypertrophy of the granule cells and enlargement of their axons, leading to the myelination of parallel fibers within the molecular layer of the cerebellum. "
08/01/2005 - "As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine."
12/14/2013 - "Beta catenin and tumor necrosis factor-α (TNFα) receptors were analysed in the proteins extracted from peripheral blood cells of the proband, his relatives and familial adenomatous polyposis (FAP) and PTEN hamartoma tumor syndrome (PHTS) patients. "
06/01/1995 - "The hereditary polyposis syndromes include the adenomatous polyposis syndromes (familial adenomatous polyposis and Gardner syndrome, and Turcot syndrome) and the hamartomatous polyposis syndromes (Peutz-Jeghers syndrome, juvenile polyposis, and Cowden's disease). "
01/01/2012 - "In the present study, we provide a review of the tumors that are associated with neurofibromatosis type 1, neurofibromatosis type 2, tuberous sclerosis complex, von Hippel-Lindau disease, Li-Fraumeni syndrome, Cowden disease, Turcot syndrome, nevoid basal cell carcinoma syndrome (Gorlin syndrome) and rhabdoid predisposition syndrome, which are the most common. "
08/01/2000 - "There are at least nine major cancer susceptibility syndromes that infer an increased risk for colorectal cancer and/or colorectal polyposis; hereditary nonpolyposis colorectal cancer syndrome, Muir-Torre syndrome, Turcot syndrome, the I1307K polymorphism of the APC gene, familial adenomatous polyposis, attenuated familial adenomatous polyposis, Peutz Jeghers syndrome, juvenile polyposis, and the PTEN hamartoma tumor syndrome. "
|6.||Epidermal Growth Factor (EGF)IBA
|8.||Hereditary renal agenesisIBA
12/01/2015 - "Cowden's syndrome is a rare, autosomal dominant disease caused by mutations in the phosphoinositide 3-kinase and phosphatase and tensin homolog (PTEN) gene. "
09/01/2014 - "Cowden syndrome is a rare condition resulting from a mutation in the tumor suppressor gene phosphatase and tensin homolog. "
09/01/2014 - "Cowden syndrome is an autosomal dominant condition caused by pathogenic mutations in the phosphatase and tensin homolog (PTEN) gene. "
05/01/2014 - "Phosphatase and tensin homologue status in sporadic and Cowden syndrome-associated trichilemmomas: evaluation of immunohistochemistry and fluorescence in situ hybridization."
04/01/2014 - "Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is caused by germ line mutations in the PTEN gene. "
|10.||Juvenile polyposis syndromeIBA
06/01/2015 - "Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance."
10/01/2004 - "In humans, mutations in BMPR1A, SMAD4 and PTEN are responsible for juvenile polyposis syndrome, juvenile intestinal polyposis and Cowden disease, respectively. "
07/01/1998 - "Germ-line mutations in PTEN have also been described in Cowden disease and in a small number of patients with juvenile polyposis syndrome. "
03/01/2010 - "This article provides a critical review of the clinical presentation, pathology, genetics, and screening and surveillance guidelines of juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome."
09/01/2007 - "These syndromes include juvenile polyposis syndrome, Peutz-Jeghers syndrome and the PTEN hamartoma tumor syndrome. "
12/01/2012 - "Should patients with Cowden syndrome undergo prophylactic thyroidectomy?"
10/01/2011 - "Immunohistochemical staining of thyroidectomy specimens for PTEN can aid in the identification of patients with Cowden syndrome."
03/01/2010 - "This case illustrates the value of recognizing Cowden syndrome at an earlier stage when the patient could have received appropriate management to decrease the morbidity of untreated hamartomatous growths, and an elective thyroidectomy would have been a viable option to manage his malignancy. "
08/01/2003 - "Thyroidectomy specimens from four patients with Cowden's disease have been reported in our laboratory in recent years. "
10/01/2013 - "We report on the presentation and management of severe streptococcal toxic shock syndrome following a total thyroidectomy for a multinodular goitre in a patient with Cowden syndrome. "
03/01/2015 - "Treatment of multiple trichilemmomas with the pinhole method using a carbon dioxide laser in a patient with Cowden syndrome."
10/01/1989 - "Cowden's disease--treatment of cutaneous lesions using carbon dioxide laser vaporization: a comparison of conventional and superpulsed techniques."
06/15/1992 - "Those with clinical manifestations of Cowden's disease may be candidates for prophylactic bilateral total mastectomy, and the authors recommend that these patients undergo this procedure by their third decade of life. "
01/01/1986 - "Prophylactic bilateral total mastectomy with optional immediate reconstruction is recommended for women Cowden's disease. "