Literature DB >> 31012097

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Chiara Leoni1,2, Roberta Onesimo1,2, Nicoletta Resta3, Maria L Patti1, Rita De Santis1, Rosanna Bagnulo3, Luca Russo4,5, Riccardo Manfredi4,5, Maurizio Genuardi6,7, Giuseppe Zampino1,2.   

Abstract

PIK3CA-related overgrowth spectrum (PROS) are overgrowth diseases involving mesenchymal tissues caused by postzygotic variants in the PIK3CA gene. Fibro-Adipose hyperplasia or Overgrowth (FAO) belongs to PROS. We reported the beneficial effect of oral low-dose sirolimus therapy in a child affected by progressive FAO in term of stabilization of the disease, good tolerability, and easy management.
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Year:  2019        PMID： 31012097     DOI： 10.1111/cge.13550

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

Review 1.  The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Authors:  Jacob J Adashek; Shumei Kato; Scott M Lippman; Razelle Kurzrock
Journal:  Genome Med       Date:  2020-02-17       Impact factor: 11.117

Review 2.  A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Authors:  Guillaume Canaud; Adrienne M Hammill; Denise Adams; Miikka Vikkula; Kim M Keppler-Noreuil
Journal:  Orphanet J Rare Dis       Date:  2021-07-08       Impact factor: 4.123

3.  Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Authors:  M Luu; P Vabres; M Bardou; L Faivre; H Devilliers; R Loffroy; A Phan; L Martin; F Morice-Picard; F Petit; M Willems; D Bessis; M L Jacquemont; A Maruani; C Chiaverini; T Mirault; J Clayton-Smith; M Carpentier; C Fleck; A Maurer; M Yousfi; V E R Parker; R K Semple
Journal:  Genet Med       Date:  2021-08-12       Impact factor: 8.822
  3 in total

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