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Alexander Sinanan - One of the best experts on this subject based on the ideXlab platform.
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Multi-organ benign and malignant tumors: recognizing Cowden Syndrome: a case report and review of the literature
BMC Research Notes, 2016Co-Authors: Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander SinananAbstract:Background Cowden Syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden Syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this Syndrome. Further studies are therefore warranted to assess the significance of these findings in Cowden Syndrome. Case presentation A middle-aged Afro-Caribbean known endometrial carcinoma patient (post surgery and adjuvant radiotherapy), presented with a locally advanced breast carcinoma. She received neoadjuvant chemotherapy followed by a modified radical mastectomy and axillary lymph node clearance. Her past medical history included a sphenoid wing meningioma for which she received definitive external beam radiotherapy. She was also known to have a multinodular goiter, anal polyp and longstanding mucocutaneous lesions. Further workup revealed additional smaller meningiomas, a parotid arteriovenous malformation, a lung cyst and pancreatic lipomas. Overall, consortium criteria were met for the diagnosis of Cowden Syndrome. Furthermore, genetic testing identified a pathogenic mutation in the PTEN gene. She will be closely followed with annual clinical examination, dermatologic assessment and screening colonoscopies. She will perform interval whole body contrast enhanced CT for continued surveillance for metastatic disease. Conclusion Cowden Syndrome is likely to be an under diagnosed condition, but critically important to identify due to its cancer predisposition. When encountering multi-organ tumors, diagnostic criteria for Cowden Syndrome should be sought in order to increase the diagnostic rates. Cancer surveillance for carcinoma detection in the early and curative stages remains the most critical aspect of management.
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Multi-organ benign and malignant tumors: recognizing Cowden Syndrome: a case report and review of the literature
BMC research notes, 2016Co-Authors: Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander SinananAbstract:Cowden Syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden Syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this Syndrome. Further studies are therefore warranted to assess the significance of these findings in Cowden Syndrome. A middle-aged Afro-Caribbean known endometrial carcinoma patient (post surgery and adjuvant radiotherapy), presented with a locally advanced breast carcinoma. She received neoadjuvant chemotherapy followed by a modified radical mastectomy and axillary lymph node clearance. Her past medical history included a sphenoid wing meningioma for which she received definitive external beam radiotherapy. She was also known to have a multinodular goiter, anal polyp and longstanding mucocutaneous lesions. Further workup revealed additional smaller meningiomas, a parotid arteriovenous malformation, a lung cyst and pancreatic lipomas. Overall, consortium criteria were met for the diagnosis of Cowden Syndrome. Furthermore, genetic testing identified a pathogenic mutation in the PTEN gene. She will be closely followed with annual clinical examination, dermatologic assessment and screening colonoscopies. She will perform interval whole body contrast enhanced CT for continued surveillance for metastatic disease. Cowden Syndrome is likely to be an under diagnosed condition, but critically important to identify due to its cancer predisposition. When encountering multi-organ tumors, diagnostic criteria for Cowden Syndrome should be sought in order to increase the diagnostic rates. Cancer surveillance for carcinoma detection in the early and curative stages remains the most critical aspect of management.
Maria Angela Gosein - One of the best experts on this subject based on the ideXlab platform.
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Multi-organ benign and malignant tumors: recognizing Cowden Syndrome: a case report and review of the literature
BMC Research Notes, 2016Co-Authors: Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander SinananAbstract:Background Cowden Syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden Syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this Syndrome. Further studies are therefore warranted to assess the significance of these findings in Cowden Syndrome. Case presentation A middle-aged Afro-Caribbean known endometrial carcinoma patient (post surgery and adjuvant radiotherapy), presented with a locally advanced breast carcinoma. She received neoadjuvant chemotherapy followed by a modified radical mastectomy and axillary lymph node clearance. Her past medical history included a sphenoid wing meningioma for which she received definitive external beam radiotherapy. She was also known to have a multinodular goiter, anal polyp and longstanding mucocutaneous lesions. Further workup revealed additional smaller meningiomas, a parotid arteriovenous malformation, a lung cyst and pancreatic lipomas. Overall, consortium criteria were met for the diagnosis of Cowden Syndrome. Furthermore, genetic testing identified a pathogenic mutation in the PTEN gene. She will be closely followed with annual clinical examination, dermatologic assessment and screening colonoscopies. She will perform interval whole body contrast enhanced CT for continued surveillance for metastatic disease. Conclusion Cowden Syndrome is likely to be an under diagnosed condition, but critically important to identify due to its cancer predisposition. When encountering multi-organ tumors, diagnostic criteria for Cowden Syndrome should be sought in order to increase the diagnostic rates. Cancer surveillance for carcinoma detection in the early and curative stages remains the most critical aspect of management.
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Multi-organ benign and malignant tumors: recognizing Cowden Syndrome: a case report and review of the literature
BMC research notes, 2016Co-Authors: Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander SinananAbstract:Cowden Syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden Syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this Syndrome. Further studies are therefore warranted to assess the significance of these findings in Cowden Syndrome. A middle-aged Afro-Caribbean known endometrial carcinoma patient (post surgery and adjuvant radiotherapy), presented with a locally advanced breast carcinoma. She received neoadjuvant chemotherapy followed by a modified radical mastectomy and axillary lymph node clearance. Her past medical history included a sphenoid wing meningioma for which she received definitive external beam radiotherapy. She was also known to have a multinodular goiter, anal polyp and longstanding mucocutaneous lesions. Further workup revealed additional smaller meningiomas, a parotid arteriovenous malformation, a lung cyst and pancreatic lipomas. Overall, consortium criteria were met for the diagnosis of Cowden Syndrome. Furthermore, genetic testing identified a pathogenic mutation in the PTEN gene. She will be closely followed with annual clinical examination, dermatologic assessment and screening colonoscopies. She will perform interval whole body contrast enhanced CT for continued surveillance for metastatic disease. Cowden Syndrome is likely to be an under diagnosed condition, but critically important to identify due to its cancer predisposition. When encountering multi-organ tumors, diagnostic criteria for Cowden Syndrome should be sought in order to increase the diagnostic rates. Cancer surveillance for carcinoma detection in the early and curative stages remains the most critical aspect of management.
Charis Eng - One of the best experts on this subject based on the ideXlab platform.
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Pulmonary arterial hypertension in a patient with Cowden Syndrome and the PTEN mutation.
Pulmonary circulation, 2014Co-Authors: Jessica Mester, Charis Eng, Samar FarhaAbstract:AbstractThe pathogenesis of pulmonary arterial hypertension (PAH) exhibits many neoplastic-like features. Cowden Syndrome is a difficult-to-recognize heritable cancer Syndrome caused by a germline mutation in the phosphatase-and-tensin homolog deleted on the chromosome 10 (PTEN) gene. PTEN regulation has been implicated in cancer development and, more recently, PAH pathogenesis. Here we report a case of PAH in a patient with Cowden Syndrome and the response to pulmonary vasodilators.
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will the real Cowden Syndrome please stand up again expanding mutational and clinical spectra of the pten hamartoma tumour Syndrome
Journal of Medical Genetics, 2004Co-Authors: Robert Pilarski, Charis EngAbstract:PTEN hamartoma tumour Syndrome Since consensus operational diagnostic criteria for Cowden Syndrome (MIM 158350) were first established in 1995, our understanding of this complex disease—and the spectrum of disorders related to it by virtue of also having germline mutations in the PTEN tumour suppressor gene—has continued to evolve. This was reflected in a commentary1 in this journal in 2000 in which it was proposed that endometrial cancer and renal cell carcinoma be added to the operational diagnostic criteria for Cowden Syndrome (table 1). This updated commentary is intended to provide a review of significant changes in our understanding of the growing group of disorders, which are known to be caused by germline mutations in PTEN on 10q23.3, and which have been termed the PTEN hamartoma tumour Syndrome. View this table: Table 1 International Cowden Consortium operational criteria for the diagnosis of Cowden Syndrome. Ver 2000 Cowden Syndrome is a complex disorder with malignant and benign (hamartomatous) lesions affecting derivatives of all three germ cell layers. Major organs involved include the breast, thyroid, uterus, brain, and mucocutaneous tissues.2 It has been estimated to affect about 1 in 200 000 individuals,3,4 although this is probably an underestimate given the difficulty in diagnosis presented by this highly variable disease and the fact that many component features in and of themselves can occur in the general population. Penetrance is related to age, with most patients presenting by their late twenties with at least the mucocutaneous lesions of this disorder, which are reportedly seen in 99% of affected individuals. The lifetime risk for breast cancer in Cowden Syndrome is estimated to be 25–50%, with an average age of diagnosis between 38 and 46 years old.2,5 The risk for thyroid cancer (typically follicular, but occasionally papillary) is approximately 10%, while the risk for endometrial cancer, …
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18 Direct Sequencing for Cowden Syndrome Gene PTEN (MMAC1) Mutations.
Methods in molecular medicine, 2001Co-Authors: Lauri A. Aaltonen, Stina Roth, Charis EngAbstract:Cowden Syndrome is a rare dominantly inherited condition with predisposition to benign hamartomatous polyposis of the intestine, as well as malignant tumors of the breast and thyroid, and possibly some other cancer types. Other features include macrocephaly and dysplastic cerebellar gangliocytomatosis with ataxia, as well as predisposition to formation of trichilemmomas of the skin (1). The latter are tumors of the hair root sheath.
Andrzej Pławski - One of the best experts on this subject based on the ideXlab platform.
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First Polish Cowden Syndrome patient with confirmed PTEN gene mutation.
Archives of Medical Science, 2010Co-Authors: Marta Podralska, Dorota Nowakowska, Jan Steffen, Wojciech Cichy, Ryszard Słomski, Andrzej PławskiAbstract:Cowden Syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours of the breast, ovary and thyroid. Here we describe the case of a Polish patient diagnosed with Cowden Syndrome with an identified mutation in the PTEN gene. The disease course of the patient is described and discussed along with other cases of carriers of substitution 68T>A in the PTEN gene.
Sung-ae Jung - One of the best experts on this subject based on the ideXlab platform.
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Analysis of PTEN Gene Mutations in Korean Patients With Cowden Syndrome and Polyposis Syndrome
Diseases of the Colon & Rectum, 2005Co-Authors: Seung-jae Myung, Suk-kyun Yang, Seong Soo Hong, Jeong-sik Byeon, Jin-yong Jeong, Kyuyoung Song, Sung-ae JungAbstract:PURPOSE PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor Syndromes, including Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, Proteus Syndrome, and Proteus -like Syndromes. Recently, PTEN mutations were identified in several human neoplasms. We analyzed the DNA of various organs and lesions in Korean patients with Cowden Syndrome, their family members, and patients with familial adenomatous polyposis for germline or somatic PTEN mutations. METHODS The 11 patients included in this study were 5 patients with Cowden Syndrome, 4 of their family members, and 2 patients with familial adenomatous polyposis. Deletions and mutations in exons 1 to 9 of the PTEN gene were evaluated by polymerase chain reaction-single strand conformation polymorphism and sequencing analysis in esophageal acanthosis, gastric polyps, colonic polyps, skin lesions, and peripheral blood mononuclear cells. To exclude common polymorphisms, 240 controls were tested. RESULTS All patients with Cowden Syndrome showed several to numerous polyps in the gastrointestinal tract. A missense mutation at codon 217 (GTC to GAC, Val to Asp) in exon 7 was identified in one Cowden Syndrome patient, and a nonsense mutation at codon 211 (TGC to TGA, Cys to stop) in exon 6 was identified in a second patient. Identical mutations were found in all tissue samples, including colonic polyps, from each patient. No PTEN mutations were found in their family members or in any patient with familial adenomatous polyposis. None of tested controls contained a mutation. CONCLUSIONS We have identified two new germline PTEN mutations in Korean patients with Cowden Syndrome. Mutations in the introns and regulatory regions of the PTEN gene may be present in additional patients with Cowden Syndrome and polyposis Syndrome.
