Consensus on the diagnosis and treatment of PROS (PIK3CA-related overgrowth spectrum). Russian version-Reference-Cited by-同舟云学术

Consensus on the diagnosis and treatment of PROS (PIK3CA-related overgrowth spectrum). Russian version

Published:2023-07-19 Issue:2 Volume:10 Page:117-130
ISSN:2413-5496
Container-title:Russian Journal of Pediatric Hematology and Oncology
language:
Short-container-title:Ross. ž. det. gematol. onkol.

Author:

Sagoyan G. B.¹^ORCID,Zhukov N. V.²^ORCID,Strelnikov V. V.³^ORCID,Khagurov R. A.⁴^ORCID,Suleymanova A. M.¹^ORCID,Mareeva Yu. M.²^ORCID,Garbuzov R. V.⁵^ORCID,Imyanitov E. N.⁶,Dinikina Yu. V.⁷^ORCID,Kutsev S. I.³^ORCID,Donyush E. K.⁵^ORCID,Kirgizov K. I.¹^ORCID,Semenova N. A.³^ORCID,Polyaev Yu. A.⁵^ORCID,Kletskaya I. S.⁵^ORCID,Maschan A. A.²^ORCID,Varfolomeeva S. R.¹^ORCID

Affiliation:

1. N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia

2. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia

3. Research Centre for Medical Genetics named after Academician N.P. Bochkov

4. Children’s City Clinical Hospital named after N.F. Filatov of Moscow City Health Department

5. Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

6. N.N. Petrov National Medical Research Center of Oncology, Ministry of Health of Russia

7. Almazov National Medical Research Centre, Ministry of Health of Russia

Abstract

PROS (PIK3CA-Related Overgrowth Spectrum) encompasses vascular malformations, lipomatosis and other multiple congenital anomalies resulting from activating somatic mutations in the PIK3CA gene. PROS includes macrodactyly, hemimegalencephaly, muscle hemihypertrophy, facial infiltrating lipomatosis CLOVES, megalencephaly, vascular malformations (capillary, venous, lymphatic, arteriovenous and combined vascular malformations), skin disorders, epidermal nevi, etc.The experts of the Russian Society of Pediatric Oncologists and Hematologists, Russian Association of Pediatric Surgeons and Russian Society of Medical Geneticists developed this consensus statement of diagnostics and treatment of PROS.

Publisher

OOO Grafika

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Sagoyan G.B., Kletskaya I.S., Imyanitov E.N., Mareeva Yu.M., Zhukov N.V., Khagurov R.A., Suleimanova A.M. Spektr sindromov izbytochnogo rosta, svyazannykh s mutatsiei PIK3CA. Obzor literatury. Rossiiskiizhurnal detskoi gematologii i onkologii. 2022;9(1):29–44. doi: 10.21682/2311-1267-2022-9-1-29-44.

2. Canaud G., Hammill A.M., Adams D., Vikkula M., Keppler-Noreuil K.M. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306. doi: 10.1186/s13023-021-01929-8.

3. Nunnery S.E., Mayer I.A. Targeting the PI3K/AKT/mTOR Pathway in Hormone-Positive Breast Cancer Drugs. 2020;80:1685–97. doi: 10.1007/s40265-020-01394-w.

4. Madsen R.R., Vanhaesebroeck B., Semple R.K. Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends Mol Med. 2018;24(10):856–70. doi: 10.1016/j.molmed.2018.08.003.

5. Douzgou S., Rawson M., Baselga E., Danielpour M., Faivre L., Kashanian A., Keppler-Noreuil K.M., Kuentz P., Mancini G.M.S., Maniere M.C., Martinez-Glez V., Parker V.E., Semple R.K., Srivastava S., Vabres P., De Wit M.Y., Graham J.M. Jr, Clayton-Smith J., Mirzaa G.M., Biesecker L.G. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022;101(1):32–47. doi: 10.1111/cge.14027.