A rare case of Lynch syndrome: the role of genetic testing in diagnosis
https://doi.org/10.36604/1998-5029-2026-99-127-133
Abstract
Introduction. Lynch syndrome is one of the most common hereditary cancer syndromes, characterized by early-onset development of multiple malignancies, particularly colorectal cancer. It is caused by germline mutations in DNA mismatch repair (MMR) genes.
Aim. To present a rare case of Lynch syndrome to familiarize clinicians with current diagnostic approaches.
Materials and methods. A clinical case from the authors’ practice is described.
Results. The patient, born in 1984, presented with two primary tumors of the colon. Given the early age of onset and multiplicity of tumors, Lynch syndrome was clinically suspected. Molecular genetic testing for microsatellite instability (MSI) was performed, revealing a pathogenic heterozygous germline duplication in the MLH1 gene: NM_000249.4 c.1921dup
(p.Leu641Profs*4). The diagnosis was confirmed as Lynch syndrome, and an individualized surveillance program was established.
Conclusion. This case illustrates the diagnostic and therapeutic capabilities available for Lynch syndrome and proposes a structured algorithm for long-term follow-up of both diagnosed patients and their at-risk relatives.
Supporting agencies: This study was not sponsored
About the Authors
S. S. Grashoven
Amur Regional Cancer Center
Russian Federation
Russian Federation
Sergey S. Grashoven, MD, Coloproctologist
Department of Abdominal and Thoracic Oncology
675000; 110 Oktyabrʹskaya Str.; Blagoveshchensk
R. A. Zhdanova
Amur Regional Cancer Center
Russian Federation
Russian Federation
Regina A. Zhdanova, MD, Pathologist
Department of Pathological Anatomy
675000; 110 Oktyabrʹskaya Str.; Blagoveshchensk
A. S. Alekseenko
Amur Regional Cancer Center
Russian Federation
Russian Federation
Aleksandr S. Alekseenko, MD, Surgical Oncologist
Department of Abdominal and Thoracic Oncology
675000; 110 Oktyabrʹskaya Str.; Blagoveshchensk
A. A. Pastukhov
Amur Regional Cancer Center
Russian Federation
Russian Federation
Anton A. Pastukhov, MD, Surgical Oncologist
Department of Abdominal and Thoracic Oncology
675000; 110 Oktyabrʹskaya Str.; Blagoveshchensk
T. E. Talchenkova
Far Eastern Scientific Center of Physiology and Pathology of Respiration
Russian Federation
Russian Federation
Tatiana E. Talchenkova, MD, Specialist in Clinical Laboratory Diagnostics
Clinical Diagnostic Laboratory
675000; 22 Kalinina Str.; Blagoveshchensk
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Review
For citations:
Grashoven S.S., Zhdanova R.A., Alekseenko A.S., Pastukhov A.A., Talchenkova T.E. A rare case of Lynch syndrome: the role of genetic testing in diagnosis. Bulletin Physiology and Pathology of Respiration. 2026;(99):127-133. (In Russ.) https://doi.org/10.36604/1998-5029-2026-99-127-133
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