Indonesian Journal of Cancer
Vol. 20 No. 3 (2026): September

Lynch Syndrome in a Young Male Patient: A Rare Case Report with Diagnostic Considerations: Lynch Syndrome in a Young Male

Achmad Deza Farista (Resident of Internal Medicine, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Vidi Orba Busro (Division of Gastroenterology and Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Suyata Suyata (Division of Gastroenterology and Hepatology, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Yenny Dian Andayani (Division of Hematology and Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Mediarty Syahrir (Division of Hematology and Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Norman Djamaludin (Division of Hematology and Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Erty Sundarita (Division of Hematology and Oncology, Department of Internal Medicine, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Sarup Singh (Division of Digestive Surgery, Department of Surgery, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)
Suly Auline (Division of Gastrointestinal Pathology, Department of Pathology, Faculty of Medicine, Universitas Sriwijaya/Mohammad Hoesin Hospital, Palembang, South Sumatera, Indonesia)



Article Info

Publish Date
30 Sep 2026

Abstract

Introduction: Lynch syndrome, (LS), or hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant inherited cancer syndrome primarily caused by germline mutations in DNA mismatch repair (MMR) genes, particularly MLH1 and MSH2. These mutations cause microsatellite instability (MSI), a hallmark of LS-associated colorectal cancer. Despite its clinical significance, LS remains underdiagnosed, particularly in low-resource settings.  Case Presentation: A 36-year-old man presented with intermittent right upper abdominal pain, chronic diarrhea, and unintentional weight loss of 17 kg over three months. Colonoscopy revealed an ascending colon mass, while computed tomography showed a malignant lesion causing luminal narrowing and mesenteric fat infiltration. Histopathology confirmed high-grade mucinous adenocarcinoma. Immunohistochemistry showed loss of MLH1 and PMS2 expression with retained MSH2 and MSH6, indicating MMR deficiency and MSI-high status. A detailed pedigree identified six first- and second-degree relatives with colorectal cancer, fulfilling the Amsterdam II and revised Bethesda criteria for LS. The patient underwent right hemicolectomy followed by adjuvant FOLFOX chemotherapy. Immunotherapy could not be administered because of limited access despite its established benefit in MSI-high colorectal cancer. Conclusions: This case highlights the importance of integrating clinical presentation, family history, and molecular findings in diagnosing LS. MMR immunohistochemistry is a reliable and cost-effective screening method that supports MSI detection and guides genetic testing. Early diagnosis enables appropriate treatment and cascade screening of at-risk family members.  

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Journal Info

Abbrev

ijoc

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Immunology & microbiology Medicine & Pharmacology Public Health

Description

Indonesian Journal of Cancer is a peer-reviewed and open-access journal. This journal is published quarterly (in March, June, September, and December) by Dharmais Cancer Hospital - National Cancer Center. Submissions are reviewed under a broad scope of topics relevant to experimental and clinical ...