A systematic review of the safety and efficacy of currently used treatment modalities in the treatment of patients with PIK3CA-related overgrowth spectrum.

Bernhard, Sarah M.; Adam, Luise; Atef, Hady; Häberli, Dario; Bramer, Wichor M; Minder, Beatrice; Döring, Yvonne; Laine, Jessica E.; Muka, Taulant; Rössler, Jochen Karl; Baumgartner, Iris (2021). A systematic review of the safety and efficacy of currently used treatment modalities in the treatment of patients with PIK3CA-related overgrowth spectrum. (In Press). Journal of vascular surgery. Venous and lymphatic disorders Elsevier 10.1016/j.jvsv.2021.07.008

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BACKGROUND

PIK3CA-related overgrowth syndromes (PROS) include a variety of clinical presentations that are associated with hypertrophy of different parts of the body.

AIM

Perform a systematic literature review to assess the current treatment options and their efficacy and safety in PROS.

METHODS

A literature search was performed in EMBASE, MEDLINE (Ovid), Web of Science Core Collection, Cochrane Central Register of Controlled Trials, ClinicalTrials.gov and Google Scholar to retrieve publications on the treatment for hypertrophy in PROS and randomized controlled trials, cohort studies or case series including ≥10 patients reporting were included in the review. Titles, abstracts and full texts were assessed by two reviewers independently. The Risk of Bias (RoB) was assessed using the Newcastle Ottawa Scale.

RESULTS

16 articles for the treatment of hypertrophy in PROS patients were included, 13 (81.3%) from clinical retrospective studies and 3 (13.7%) from prospective cohort studies. The ROB grade was low for 2, medium for 12 and high for 2 studies. 13 articles reported surgical treatment, while 3 reported pharmacological treatment using PIK3/mTOR pathway inhibitors in PROS patients. In 3 studies, PROS was defined by a mutation in the PIK3CA gene, while the other studies relied on a clinical definition of PROS. Surgical therapy was beneficial for a specific subgroup of PROS (macrodactyly), but little was reported concerning surgery and potential benefits in other PROS entities. Reported side effects in surgical therapy were mostly prolonged wound healing or scarring. PIK3/mTOR pathway inhibition was beneficial in patients with PROS reducing hypertrophy as well as systemic symptoms. Adverse effects reported included infection, changes in blood count, liver enzymes and metabolic measures.

CONCLUSION

Surgery is a locally limited treatment option in specific types of PROS. A promising treatment option in PROS is the pharmacological PIK3CA inhibition. However, the level of evidence on treatment of overgrowth in PROS patients is limited.

Item Type:

Journal Article (Review Article)

Division/Institute:

13 Central Units > Administrative Director's Office > University Library of Bern
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Hämatologie / Onkologie (Pädiatrie)
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Hämatologie / Onkologie (Pädiatrie)

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Angiology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Haematology/Oncology
04 Faculty of Medicine > Medical Education > Institute of General Practice and Primary Care (BIHAM)
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)

UniBE Contributor:

Bernhard, Sarah Maike; Adam, Luise Leonore; Atef, Hady; Häberli, Dario; Minder, Beatrice; Döring, Yvonne; Laine Carmeli, Jessica Evelyn; Muka, Taulant; Rössler, Jochen Karl and Baumgartner, Iris

Subjects:

000 Computer science, knowledge & systems > 020 Library & information sciences
600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

2213-333X

Publisher:

Elsevier

Language:

English

Submitter:

Andrea Flükiger-Flückiger

Date Deposited:

12 Aug 2021 19:40

Last Modified:

27 Oct 2021 12:04

Publisher DOI:

10.1016/j.jvsv.2021.07.008

PubMed ID:

34358672

Uncontrolled Keywords:

Phosphatidylinositol 3-Kinase Phosphoinositide-3 Kinase Inhibitors TOR Serine-Threonine Kinases

BORIS DOI:

10.48350/158008

URI:

https://boris.unibe.ch/id/eprint/158008

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