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

Chiara Leoni; Roberta Onesimo; Nicoletta Resta; Maria L Patti; Rita De Santis; Rosanna Bagnulo; Luca Russo; Riccardo Manfredi; Maurizio Genuardi; Giuseppe Zampino

doi:10.1111/cge.13550

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

Clin Genet. 2019 Jul;96(1):102-103. doi: 10.1111/cge.13550. Epub 2019 Apr 22.

Authors

Chiara Leoni^{1

2}, Roberta Onesimo^{1

2}, Nicoletta Resta³, Maria L Patti¹, Rita De Santis¹, Rosanna Bagnulo³, Luca Russo^{4

5}, Riccardo Manfredi^{4

5}, Maurizio Genuardi^{6

7}, Giuseppe Zampino^{1

2}

Affiliations

¹ Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.
² Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, Italy.
³ Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.
⁴ Fondazione Policlinico Universitario A. Gemelli IRCCS, Radiologia Diagnostica e Interventistica Generale, Area Diagnostica per Immagini, Dipartimento Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Rome, Italy.
⁵ Istituto di Radiologia, Università Cattolica del Sacro Cuore, Roma, Italy.
⁶ Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.
⁷ Istituto di Medicina Genomica, Università Cattolica, Rome, Italy.

PMID: 31012097
DOI: 10.1111/cge.13550

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.

Publication types

Case Reports
Letter

MeSH terms

Absorptiometry, Photon
Adipose Tissue / abnormalities*
Child, Preschool
Fetal Macrosomia / diagnosis*
Fetal Macrosomia / drug therapy*
Fetal Macrosomia / genetics*
Genetic Predisposition to Disease*
Humans
Hyperplasia
Magnetic Resonance Imaging
Mosaicism*
Sirolimus / administration & dosage
Sirolimus / therapeutic use*
Treatment Outcome

Substances

Sirolimus