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Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

Author: DinessBirgitte R, FrevertSusanne, HarderKatja M, HjortshøjTina D, HoveHanne, JørgensenFinn Stener, KarstensenHelena Gásdal, Schönewolf-GreulichBitten

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Overview

Alpelisib is a drug that blocks a protein called PIK3CA, which can cause overgrowth in some children. This study describes a child with overgrowth who was treated with alpelisib. The child's growth normalized and the affected tissues regressed.
Paper Details　
Original Abstract of the Article :
Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth syndrome (PROS). The PIK3CA-inhibitor, alpelisib, seems to be a promising treatment option for PROS patients. We describe a young b...See full text at original site
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引用元：
https://doi.org/10.1016/j.ejmg.2022.104590

データ提供：米国国立医学図書館（NLM）

Precision Medicine: A Lifeline for PIK3R1-Related Overgrowth

This case report highlights the potential of precision medicine in treating a young boy with PIK3R1-related overgrowth, a rare condition characterized by vascular malformations and overgrowth. The authors describe the successful use of alpelisib, a PIK3CA-inhibitor, to normalize growth and regress affected tissues in this patient. The case highlights the importance of early diagnosis and the potential for targeted therapies in treating rare genetic disorders. The authors emphasize the need for further research to evaluate the long-term efficacy and safety of alpelisib in treating PIK3R1-related overgrowth.

A Beacon of Hope for Rare Genetic Disorders

This case report offers a beacon of hope for individuals with rare genetic disorders, showcasing the transformative potential of precision medicine. Like a caravan discovering a hidden oasis in a desolate landscape, researchers are finding new and effective ways to treat rare conditions, offering a lifeline for those who have been historically underserved by traditional medical approaches.

The Promise of Precision Medicine

The successful treatment of this young boy with PIK3R1-related overgrowth highlights the promise of precision medicine, where treatments are tailored to individual genetic profiles. Like a skilled navigator using a map to chart a course through a complex desert, researchers are increasingly leveraging genetic information to develop personalized therapies for rare diseases, offering a new era of hope for those facing life-altering challenges.

Dr. Camel's Conclusion

This case report reminds us that the desert of rare genetic disorders can be navigated with the help of precision medicine. Alpelisib, like a powerful camel well-suited for traversing the harshest terrain, offers a potential treatment option for PIK3R1-related overgrowth. The research underscores the importance of early diagnosis and the transformative power of targeted therapies in treating rare genetic disorders.

Date :
  1. Date Completed 2022-09-15
  2. Date Revised 2022-09-15
Further Info :

Pubmed ID

35964931

DOI: Digital Object Identifier

10.1016/j.ejmg.2022.104590

Related Literature

Article Analysis
・Side Effects of alpelisib
SNS
PICO Info
in preparation
Languages

English

Positive IndicatorAn AI analysis index that serves as a benchmark for how positive the results of the study are. Note that it is a benchmark and requires careful interpretation and consideration of different perspectives.

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