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

G. B. Sagoyan; N. V. Zhukov; V. V. Strelnikov; R. A. Khagurov; A. M. Suleymanova; Yu. M. Mareeva; R. V. Garbuzov; E. N. Imyanitov; Yu. V. Dinikina; S. I. Kutsev; E. K. Donyush; K. I. Kirgizov; N. A. Semenova; Yu. A. Polyaev; I. S. Kletskaya; A. A. Maschan; S. R. Varfolomeeva

doi:10.21682/2311-1267-2023-10-2-117-123

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

https://doi.org/10.21682/2311-1267-2023-10-2-117-123

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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.

Keywords

PROS, PIK3CA mutation, overgrowth spectrum, CLOVES, CLAPO, Klippel–Trenaunay syndrome, macrodactyly, lipomatosis, vascular malformations, epidermal nevus, alpelisib, sirolimus

About the Authors

G. B. Sagoyan

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

Researcher, Pediatric Oncologist Department No. 1 (Chemotherapy of Tumors of Thoracoabdominal Localization) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov,

23 Kashirskoe Shosse, Moscow, 115522

N. V. Zhukov

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

Dr. of Sci. (Med.), Professor, Head of Interdisciplinary Oncology Department,

1 Samory Mashela St., Moscow, 117997

V. V. Strelnikov

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

Dr. of Sci. (Biol.), Associate Professor, Head of the Laboratory of Epigenetics at Research Centre for Medical Genetics named after Academician N.P. Bochkov, Professor of the Department of Molecular and Cellular Genetics,

1 Moskvorechye St., Moscow, 115522

R. A. Khagurov

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

Cand. of Sci. (Med.), Surgeon of the Department of Reconstructive Microsurgery,

15 Sadovaya-Kudrinskaya St., Moscow, 123242

A. M. Suleymanova

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

23 Kashirskoe Shosse, Moscow, 115522

Yu. M. Mareeva

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

Pediatric Oncologist of Advisory Department,

1 Samory Mashela St., Moscow, 117997

R. V. Garbuzov

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

Dr. of Sci. (Med.), Doctor of the Interventional Radiology Department,

117 Leninskiy Prosp., Moscow, 117997

E. N. Imyanitov

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

Corresponding Member of RAS, Dr. of Sci. (Med.), Professor, Head of the Research Department of Biology of Tumor Growth and the Laboratory of Molecular Oncology,

68 Leningradskaya St., Pesochny, S.-Petersburg, 197758

Yu. V. Dinikina

Almazov National Medical Research Centre, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Head of the Laboratory of Pediatric Neuro-Immuno-Oncology of the Pesonalized Medicine Centre and Head of the Department of Chemotherapy for Hematologic Diseases and Bone Marrow Transplantation for Children,

2 Akkuratova St., S.-Petersburg, 197341

S. I. Kutsev

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

Academician of RAS, Dr. of Sci. (Med.), Director,

Chief Freelance Specialist in Medical Genetics of the Ministry of Health of Russia,

1 Moskvorechye St., Moscow, 115522

E. K. Donyush

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

Cand. of Sci. (Med.), Associate Professor, Head of the Department of the Day Hospital of Hematology and Oncology at the Russian Children’s Clinical Hospital,

117 Leninskiy Prosp., Moscow, 117997

K. I. Kirgizov

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

Cand. of Sci. (Med.), Deputy Director for Scientific Work of Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov,

23 Kashirskoe Shosse, Moscow, 115522

N. A. Semenova

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

Cand. of Sci. (Med.), Leeading Research Assistant,

1 Moskvorechye St., Moscow, 115522

Yu. A. Polyaev

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

Dr. of Sci. (Med.), Professor, Head of the Interventional Radiology Department,

117 Leninskiy Prosp., Moscow, 117997

I. S. Kletskaya

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

Pathologist Pathology Department,

117 Leninskiy Prosp., Moscow, 117997

A. A. Maschan

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

Corresponding Members of RAS, Dr. of Sci. (Med.), Professor, Deputy General Director – Director of the Institute of Children Hematology, Immunology and Cell Technologies,

1 Samory Mashela St., Moscow, 117997

S. R. Varfolomeeva

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

Dr. of Sci. (Med.), Professor, Director of Research Institute of Pediatric Oncology and Hematology named after Academician of
the Russian Academy of Medical Sciences L.A. Durnov,

23 Kashirskoe Shosse, Moscow, 115522

References

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Review

For citations:

Sagoyan G.B., Zhukov N.V., Strelnikov V.V., Khagurov R.A., Suleymanova A.M., Mareeva Yu.M., Garbuzov R.V., Imyanitov E.N., Dinikina Yu.V., Kutsev S.I., Donyush E.K., Kirgizov K.I., Semenova N.A., Polyaev Yu.A., Kletskaya I.S., Maschan A.A., Varfolomeeva S.R. Consensus on the diagnosis and treatment of PROS (PIK3CA-related overgrowth spectrum). Russian version. Russian Journal of Pediatric Hematology and Oncology. 2023;10(2):117-130. https://doi.org/10.21682/2311-1267-2023-10-2-117-123

This work is licensed under a Creative Commons Attribution 4.0 License.

ISSN 2311-1267 (Print)
ISSN 2413-5496 (Online)

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Russian Journal of Pediatric Hematology and Oncology

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

Full Text:

Abstract

Keywords

About the Authors

References

Review

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