Literature DB >> 25610608

Pulmonary arterial hypertension in a patient with Cowden syndrome and the PTEN mutation.

Duc Ha1, Jessica Mester2, Charis Eng3, Samar Farha4.   

Abstract

The 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.

Entities:  

Keywords:  Cowden syndrome; PTEN mutation; pulmonary hypertension

Year:  2014        PMID： 25610608      PMCID： PMC4278632          DOI： 10.1086/678552

Source DB:  PubMed          Journal:  Pulm Circ        ISSN： 2045-8932            Impact factor:   3.017


  10 in total

Review 1.  Updated clinical classification of pulmonary hypertension.

Authors:  Gérald Simonneau; Ivan M Robbins; Maurice Beghetti; Richard N Channick; Marion Delcroix; Christopher P Denton; C Gregory Elliott; Sean P Gaine; Mark T Gladwin; Zhi-Cheng Jing; Michael J Krowka; David Langleben; Norifumi Nakanishi; Rogério Souza
Journal:  J Am Coll Cardiol       Date:  2009-06-30       Impact factor: 24.094

2.  Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

Authors:  D J Marsh; V Coulon; K L Lunetta; P Rocca-Serra; P L Dahia; Z Zheng; D Liaw; S Caron; B Duboué; A Y Lin; A L Richardson; J M Bonnetblanc; J M Bressieux; A Cabarrot-Moreau; A Chompret; L Demange; R A Eeles; A M Yahanda; E R Fearon; J P Fricker; R J Gorlin; S V Hodgson; S Huson; D Lacombe; C Eng
Journal:  Hum Mol Genet       Date:  1998-03       Impact factor: 6.150

Review 3.  Molecular pathogenesis of pulmonary arterial hypertension.

Authors:  Marlene Rabinovitch
Journal:  J Clin Invest       Date:  2012-12-03       Impact factor: 14.808

4.  Hypoxia-inducible factors in human pulmonary arterial hypertension: a link to the intrinsic myeloid abnormalities.

Authors:  Samar Farha; Kewal Asosingh; Weiling Xu; Jacqueline Sharp; Deepa George; Suzy Comhair; Margaret Park; W H Wilson Tang; James E Loyd; Karl Theil; Raymond Tubbs; Eric Hsi; Alan Lichtin; Serpil C Erzurum
Journal:  Blood       Date:  2011-01-21       Impact factor: 22.113

5.  Pulmonary arterial hypertension in a patient with Cowden syndrome and anorexigen exposure.

Authors:  Delphine Natali; Barbara Girerd; David Montani; Florent Soubrier; Gérald Simonneau; Marc Humbert; Olivier Sitbon
Journal:  Chest       Date:  2011-10       Impact factor: 9.410

Review 6.  Cancer phenomics: RET and PTEN as illustrative models.

Authors:  Kevin M Zbuk; Charis Eng
Journal:  Nat Rev Cancer       Date:  2006-12-14       Impact factor: 60.716

Review 7.  Cardiac regulation by phosphoinositide 3-kinases and PTEN.

Authors:  Gavin Y Oudit; Josef M Penninger
Journal:  Cardiovasc Res       Date:  2009-01-15       Impact factor: 10.787

8.  Targeted deletion of PTEN in smooth muscle cells results in vascular remodeling and recruitment of progenitor cells through induction of stromal cell-derived factor-1alpha.

Authors:  Raphael A Nemenoff; Peter A Simpson; Seth B Furgeson; Nihal Kaplan-Albuquerque; Joseph Crossno; Pamela J Garl; James Cooper; Mary C M Weiser-Evans
Journal:  Circ Res       Date:  2008-03-13       Impact factor: 17.367

9.  The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

Authors:  Wen-Hann Tan; Hagit N Baris; Patricia E Burrows; Caroline D Robson; Ahmad I Alomari; John B Mulliken; Steven J Fishman; Mira B Irons
Journal:  J Med Genet       Date:  2007-05-25       Impact factor: 6.318

Review 10.  Hereditary haemorrhagic telangiectasia: a clinical and scientific review.

Authors:  Fatima S Govani; Claire L Shovlin
Journal:  Eur J Hum Genet       Date:  2009-04-01       Impact factor: 4.246
  10 in total
  1 in total

1.  miR‑371b‑5p inhibits endothelial cell apoptosis in monocrotaline‑induced pulmonary arterial hypertension via PTEN/PI3K/Akt signaling pathways.

Authors:  Guangfa Zhu; Wenmei Zhang; Yan Liu; Shenghao Wang
Journal:  Mol Med Rep       Date:  2018-10-31       Impact factor: 2.952
  1 in total

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