Initial presentation and recurrence diagnosis of cholangiocarcinoma by Sister Mary Joseph’s nodule

Background and Purpose: Establishing a pathology-proven diagnosis of cholangiocarcinoma (CCA) remains challenging due to the limited sensitivity of conventional techniques. Endoscopic retrograde cholangiopancreatography (ERCP) with brush cytology and intraductal biopsies often fails to confirm malignancy. Sister Mary Joseph’s nodule (SMJN), a metastatic umbilical lesion typically associated with gastrointestinal or gynaecological malignancies, is a rare but potentially important diagnostic clue in patients with suspected CCA. Materials and methods: We report a case series of five patients in whom the diagnosis of primary or recurrent CCA was ultimately established or clarified through the identification and histological assessment of SMJN. Clinical presentation, imaging findings, diagnostic procedures, and clinical outcomes were reviewed. Results: In one patient, SMJN confirmed metastatic pCCA after repeated negative biliary brushings. In two patients, detection of SMJN revealed disseminated disease, thereby precluding further surgical or liver transplantation work-up. In two additional patients, SMJN represented metastatic recurrence following prior curative-intent treatment, including hepatic resection and liver transplantation. Conclusions: SMJN is a rare manifestation of metastatic CCA but may provide an important diagnostic clue when conventional diagnostic modalities fail to establish malignancy. Careful physical examination, including inspection of the umbilical region, remains essential and may facilitate timely diagnosis and appropriate clinical decision-making.