A case of medulloblastoma and disseminated basal cell carcinoma of the skin in an 11‑year‑old female patient
T. S. Belysheva,
V. V. Semenova,
E. V. Sharapova,
E. V. Krivova,
E. E. Zelenova,
A. G. Gadzhigoroeva,
T. T. Valiev,
T. V. Nasedkina https://doi.org/10.33667/2078-5631-2025-23-58-62
Abstract
Gorlin‑Goltz syndrome (GGS) is a rare autosomal dominant disorder caused by mutations in the PTCH1 and SUFU genes, key components of the Sonic Hedgehog signaling pathway. GGS is characterized by a high risk of developing tumors, primarily basal cell carcinoma (BCC) and medulloblastoma. The article presents a clinical case of an 11‑year‑old patient with PTCH1‑associated GGS, who was diagnosed with medulloblastoma at the age of 3 years, and by the age of 6 years, multiple basal cell skin cancer manifested. The clinical case highlights the importance of early diagnosis, timely molecular genetic testing and interdisciplinary monitoring to improve the prognosis and quality of life of patients with this syndrome.
Keywords
Gorlin‑Goltz syndrome,
PTCH1,
SUFU,
NGS,
genodermatosis,
children,
orphan,
basal cell carcinoma,
medulloblastoma
About the Authors
T. S. Belysheva
N.N. Blokhin National Medical Research Center of Oncology (N.N. Blokhin NMRCO);
Central State Medical Academy of the Administrative Department of the President of the Russian Federation
Russian Federation
Russian Federation
Belysheva Tatyana S., DM Sci (habil.), leading researcher at Outpatient Dept
of the Research Institute of Pediatric Oncology and Hematology named after
academician of the Russian Academy of Medical Sciences L.A. Durnov; professor at Dept of Dermatovenereology and Cosmetology
Moscow
V. V. Semenova
N.N. Blokhin National Medical Research Center of Oncology (N.N. Blokhin NMRCO);
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
Semenova Vera Vladimirovna, junior researcher at Laboratory of Biological
Microchips; geneticist at the Outpatient Dept
Moscow
E. V. Sharapova
N.N. Blokhin National Medical Research Center of Oncology (N.N. Blokhin NMRCO)
Russian Federation
Russian Federation
Sharapova Elena V., oncologist at Outpatient Dept of the Research Institute of
Pediatric Oncology and Hematology named after academician of the Russian
Academy of Medical Sciences L.A. Durnov
Moscow
E. V. Krivova
Central State Medical Academy of the Administrative Department of the President of the Russian Federation
Russian Federation
Russian Federation
Krivova Ekaterina V., resident physician
Moscow
E. E. Zelenova
N.N. Blokhin National Medical Research Center of Oncology (N.N. Blokhin NMRCO);
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
Zelenova Ekaterina E., physician-geneticist, at Outpatient Dept of the Research
Institute of Pediatric Oncology and Hematology named after academician of the Russian Academy of Medical Sciences L.A. Durnov; senior laboratory assistant at Biological Microarray Laboratory
Moscow
A. G. Gadzhigoroeva
Moscow Scientific And Practical Center Of Dermatovenereology And Cosmetology;
Peoples’ Friendship University of Russia named after Patrice Lumumba
Russian Federation
Russian Federation
Gadzhigoroeva Aida G., DM Sci (habil.), head of Scientific Dept of Clinical Dermatovenereology and Cosmetology; professor at Dept of Dermatovenereology, Allergology and Cosmetology of the Medical Institute
Moscow
T. T. Valiev
N.N. Blokhin National Medical Research Center of Oncology (N.N. Blokhin NMRCO);
Russian Medical Academy of Continuous Professional Education;
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
Valiev Timur T., DM Sci (habil.), professor, head of Dept of Chemotherapy for
Hemoblastoses No. 1, Research Institute of Pediatric Oncology and Hematology; professor at Dept of Pediatric Oncology6, professor at Dept of Oncology
Moscow
T. V. Nasedkina
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences;
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
Nasedkina Tatyana V., Dr Bio Sci (habil.), professor, leading researcher at
Laboratory of Biological Microchips; leading researcher
Moscow
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Review
For citations:
Belysheva T.S., Semenova V.V., Sharapova E.V., Krivova E.V., Zelenova E.E., Gadzhigoroeva A.G., Valiev T.T., Nasedkina T.V. A case of medulloblastoma and disseminated basal cell carcinoma of the skin in an 11‑year‑old female patient. Medical alphabet. 2025;1(23):58-62. (In Russ.) https://doi.org/10.33667/2078-5631-2025-23-58-62
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