Sister Mary Joseph Nodule: Clinical Significance and Management
A Sister Mary Joseph nodule is a metastatic umbilical nodule that represents advanced metastatic cancer, typically from intra-abdominal or pelvic origin, and carries a poor prognosis with mean survival of only 20 weeks after diagnosis. Immediate diagnostic evaluation with tissue biopsy and comprehensive imaging is essential, followed by palliative systemic therapy as the mainstay of treatment due to the advanced stage of disease at presentation. 1, 2
Clinical Significance
- Sister Mary Joseph nodule (SMJN) is a rare manifestation of advanced malignancy, named after Sister Mary Joseph who first observed the association between umbilical nodules and intra-abdominal cancer while working as a superintendent nurse at St. Mary's Hospital in Rochester, Minnesota 3
- The nodule represents cutaneous metastasis to the umbilicus, typically originating from gastrointestinal or gynecological primary tumors 1
- Primary sites commonly include:
- SMJN indicates advanced metastatic disease with extremely poor prognosis - mean survival of only 20 weeks after presentation (range 4-58 weeks) 1
- In approximately 75% of cases, SMJN may be the initial clinical manifestation of a previously undiagnosed malignancy 4
Diagnostic Approach
Initial Evaluation
- Thorough physical examination to identify the umbilical nodule and assess for other signs of malignancy 1
- Each nodule should be evaluated individually rather than assuming all represent the same disease process 5
- Prompt action is required rather than watchful waiting due to the poor prognosis 5
Imaging Studies
- CT scan of chest/abdomen/pelvis with contrast to identify the primary tumor and extent of metastatic disease 5, 6
- PET-CT scan to help characterize nodules and assess for additional metastatic sites (97% sensitivity for nodules ≥1cm) 5, 6
- Additional targeted imaging based on suspected primary site:
- Endoscopic evaluation for suspected gastrointestinal primaries
- Pelvic ultrasound/MRI for suspected gynecological primaries 1
Tissue Diagnosis
- Fine needle aspiration (FNA) or core biopsy of the umbilical nodule is recommended as the most direct method to confirm metastatic disease 2
- Percutaneous biopsy is rated as "usually appropriate" for suspicious nodules 5
- Immunohistochemistry should be performed to help identify the primary tumor site 1
Management
Multidisciplinary Approach
- A multidisciplinary team including medical oncology, surgical oncology, radiation oncology, and palliative care should evaluate the patient 6
- The presence of SMJN classifies the disease as stage IV, which significantly impacts treatment decisions 6
Treatment Options
- Systemic therapy is the mainstay of treatment for patients with confirmed metastatic disease 6
- Surgical intervention is generally not indicated due to the advanced stage and poor prognosis 2
- Palliative care should be initiated early to improve both quality of life and potentially duration of survival 7
- The extensive peritoneal metastases generally preclude curative-intent surgical approaches 6
Prognosis and Follow-up
- SMJN carries a poor prognosis with a two-year survival rate of only 13.5% regardless of the primary cancer 4
- Mean survival after diagnosis is approximately 20 weeks (range 4-58 weeks) 1
- Early initiation of palliative care is suggested to improve both quality of life and potentially duration of survival 7
Clinical Pitfalls and Caveats
- Do not assume all nodules represent the same disease process - the umbilical nodule could be from one primary while other lesions could represent a separate malignancy 5
- Avoid delaying diagnosis with prolonged observation; tissue diagnosis should be pursued promptly given the extent of disease 6
- Do not deny potential palliative treatment based solely on imaging findings without histopathological confirmation 5
- Remember that in 75% of cases, SMJN may be the initial presentation of an undiagnosed malignancy 4