Heritable TP53-related cancer syndrome and medulloblastoma in children: diagnostic and screening issues

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Abstract

Today, the contribution of hereditary tumor syndromes to the development of cancer in children is obvious, which determines the need for screening programs and selection of the most effective methods of anticancer therapy. One of the most aggressive hereditary tumor syndromes is heritable TP53-related cancer syndrome (hTP53rc, formerly known as Li–Fraumeni syndrome), characterized by a high risk, early onset and recurrent cases of malignant neoplasms in one patient. The article describes current data on hTP53rc syndrome and the features of its clinical course, and provides international recommendations for monitoring and cancer screening in pediatric patients with hTP53rc syndrome. As a clinical observation, we present an analysis of the registry of patients with relapsed and refractory forms of medulloblastoma (n = 241) with the assessment of its incidence in cases of germline mutations in the TP53 gene with the description of their medical history and the influence of this genetic event on the outcomes. The results of our study, as well as data from international literature, indicate unfavorable prognosis in tumors, including medulloblastoma, in patients with hTP53rc syndrome, however, such factors as early screening, surveillance and early and adequate therapy can help to increase their life expectancy. The study was approved by the Independent Ethics Committee and the Scientific Council of the Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation.

About the authors

Yu. V. Dinikina

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation; St. Petersburg State University

Author for correspondence.
Email: dinikinayulia@mail.ru
ORCID iD: 0000-0002-2003-0982

Yulia V. Dinikina - Cand. Med. Sci., Head of the Department of Chemotherapy for Oncohematological Diseases and Bone Marrow Transplantation for Children.

2 Akkuratova St., St. Petersburg 197341

Russian Federation

O. G. Zheludkova

The V.F. Voino-Yasenetskiy Scientific and Practical Center of Specialized Healthcare for Children of the Department of Health of Moscow

ORCID iD: 0000-0002-8607-3635

Moscow

Russian Federation

P. A. Maizenger

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation

ORCID iD: 0009-0001-6708-7505

Saint Petersburg

Russian Federation

I. L. Nikitina

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-4013-0785

Saint Petersburg

Russian Federation

I. V. Bezyazychnaya

The N.P. Napalkov Saint Petersburg Clinical Scientific and Practical Center for Specialized Types of Medical Care (Oncological)

ORCID iD: 0000-0003-4071-5468

Saint Petersburg

Russian Federation

G. G. Radulesku

The N.P. Napalkov Saint Petersburg Clinical Scientific and Practical Center for Specialized Types of Medical Care (Oncological)

ORCID iD: 0000-0001-7276-9976

Saint Petersburg

Russian Federation

I. A. Leonova

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-6341-7856

Saint Petersburg

Russian Federation

T. V. Kosenkova

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-6022-3420

Saint Petersburg

Russian Federation

G. I. Obraztsova

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-3115-5091

Saint Petersburg

Russian Federation

E. B. Bashnina

The I.I. Mechnikov North-Western State Medical University of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-7063-1161

Saint Petersburg

Russian Federation

M. B. Belogurova

The Almazov National Medical Research Centre of Ministry of Healthcare of the Russian Federation; The N.P. Napalkov Saint Petersburg Clinical Scientific and Practical Center for Specialized Types of Medical Care (Oncological)

ORCID iD: 0000-0002-7471-7181

Saint Petersburg

Russian Federation

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Copyright (c) 2025 Dinikina Y.V., Zheludkova O.G., Maizenger P.A., Nikitina I.L., Bezyazychnaya I.V., Radulesku G.G., Leonova I.A., Kosenkova T.V., Obraztsova G.I., Bashnina E.B., Belogurova M.B.

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