Hereditary multiple exostosis in a practice of pediatric oncologist

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Abstract

Multiple exostosis disease is a rare genetic disorder manifesting in skeletal lesions with development of multiple progressing deformations of the bones and joints. This pathology is characterized by high risk of malignant tumors accompanying bony outgrowths, primarily, chondrosarcoma with onset at the age of 20–40 years. Development  of multiple exostosis disease is mediated by pathogenic variants in the EXT1, EXT2 and EXT3 genes which are inherited through autosomal dominant type of inheritance with high penetrance. During diagnosis in children, this pathology should be differentiated from progressing ossifying fibrodysplasia, metachondromatosis, Langer–Giedion syndrome and common malignant tumors of the bones, cartilage and soft tissues.

 The article presents 2 clinical observations of treatment of multiple exostosis disease. In the first case, familial form of the disease with transmission of pathogenic variant in the EXT1 gene from the father and development of chondrosarcoma in both sons  at the ages of 17 and 21 years is described. In the second case, previously not described pathogenic variant in the EXT1 gene identified de novo in a 12-year-old patient with Ewing sarcoma is presented. These observations demonstrate  the necessity of early oncological screening in patients with multiple exostosis disease.

About the authors

E. E.  Zelenova

N.N.  Blokhin  National  Medical  Research  Center  of  Oncology,  Ministry  of  Health  of  Russia; Engelhardt  Institute  of  Molecular  Biology,  Russian  Academy  of  Sciences

Author for correspondence.
Email: zelenovayeye@gmail.com
ORCID iD: 0000-0002-2197-8863

Ekaterina Evgenievna Zelenova

24  Kashirskoe  Shosse,  Moscow  115522

32  Vavilova St.,  Moscow  119991

Russian Federation

Ya. Yu. Dokuchaeva

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

24  Kashirskoe  Shosse,  Moscow  115522

Russian Federation

D. B.  Khestanov

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

ORCID iD: 0000-0002-8149-254X

24  Kashirskoe  Shosse,  Moscow  115522

Russian Federation

P. A.  Kerimov

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

ORCID iD: 0000-0002-3225-1109

24  Kashirskoe  Shosse,  Moscow  115522

Russian Federation

O. M.  Romantsova

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

ORCID iD: 0000-0002-2310-0106

24  Kashirskoe  Shosse,  Moscow  115522

Russian Federation

E. V.  Sharapova

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

ORCID iD: 0000-0002-5836-0338

24  Kashirskoe  Shosse,  Moscow  115522

Russian Federation

V. V. Semenova

N.N.  Blokhin  National  Medical  Research  Center  of  Oncology,  Ministry  of  Health  of  Russia; Engelhardt  Institute  of  Molecular  Biology,  Russian  Academy  of  Sciences

ORCID iD: 0000-0002-9705-1001

24  Kashirskoe  Shosse,  Moscow  115522

32  Vavilova St.,  Moscow  119991

Russian Federation

T. S. Belysheva

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

ORCID iD: 0000-0001-5911-553X

24  Kashirskoe  Shosse,  Moscow  115522

Russian Federation

T. V. Nasedkina

Engelhardt  Institute  of  Molecular  Biology,  Russian  Academy  of  Sciences

ORCID iD: 0000-0002-2642-4202

32  Vavilova St.,  Moscow  119991

Russian Federation

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Copyright (c) 2025 Zelenova E.E., Dokuchaeva Y.Y., Khestanov D.B., Kerimov P.A., Romantsova O.M.,  Sharapova E.V., Semenova V.V., Belysheva T.S., Nasedkina T.V.

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