A 54-year-old man was referred to dermatology with a six-week history of a slowly enlarging umbilical ulcer. He was otherwise fit and well and had no other symptoms. He had a family history of bowel cancer.
On examination, there was a 2cm ulcer with an indurated edge. Clinically, the diagnosis was unclear, so a biopsy was arranged.
Histology revealed part of an ulcerated adenocarcinoma infiltrating the thickness of the dermis and composed of glands with necrotic inflammatory debris. Immunoperoxidase staining revealed tumour cells expressing cytokeratin 7 and negative for cytokeratin 20, with strong and diffuse nuclear reaction for the transcription factor CDX2. These features were consistent with a diagnosis of metastatic, moderately differentiated adenocarcinoma, likely to be of pancreatobiliary or upper GI tract origin.
A staging CT scan revealed a 3.6cm pancreatic tail lesion invading the left kidney and spleen. Gastroscopy and colonoscopy were normal. Following multidisciplinary team discussion, it was felt the primary site of disease was inoperable and the patient was referred to medical oncology for palliative FOLFIRINOX chemotherapy – folinic acid, fluorouracil, irinotecan and oxaliplatin.
This regimen has been widely adopted for the treatment of metastatic pancreatic cancer since the publication of an RCT demonstrating improved survival, progression-free survival, and response rate, compared with standard single-drug gemcitabine.1 The patient has now completed eight treatment cycles and remains generally well.
The Sister Mary Joseph nodule describes a palpable and often visible nodule within the umbilicus, resulting from metastatic spread of malignancy, usually arising in the abdomen or pelvis.2
The eponym is attributed to Sister Mary Joseph (1856-1939), a surgical assistant to Dr William James Mayo (son of the Mayo Clinic founder), who brought attention to a firm umbilical nodule in a patient being prepared for surgery in 1928.
The lesion usually presents as a raised, firm, vascular nodule that may be ulcerated, fissured or discharging. It is usually irregular in shape, rarely growing larger than 5cm in diameter. It is often asymptomatic, but can be pruritic or painful.
Patients presenting with the nodule will often have clinical signs and symptoms of an underlying malignancy, including anorexia, weight loss, cachexia, abdominal pain and swelling, and change in bowel habit.3
The condition is rare and presents as the first sign of an occult malignancy in 14-33% of cases.4 It is an early sign of relapse in 40% of patients with known malignancy.5 The most common primary malignancies associated with the nodule are GI (52%), gynaecological (28%), gastric (23%) and ovarian (16%) carcinomas. About 15% have an unknown primary and rarely, the tumour can arise from the thorax (3%).6
Adenocarcinoma is usually revealed on histology, but there are rare reports of umbilical metastasis from melanoma, sarcoma and mesothelioma.2 The mechanism of spread to the umbilicus is not known, but direct transperitoneal spread via lymphatics adjacent to the obliterated umbilical vein or direct spread via remnant structures, such as the falciform ligament, or haematogenous spread have all been postulated.2
Management should include biopsy or fine needle aspiration cytology to distinguish between benign and malignant lesions.
Traditionally, the Sister Mary Joseph nodule was thought to be an ominous sign, associated with peritoneal metastases and poor prognosis, often precluding therapeutic intervention.7
More recently, this view has been challenged, with reviews of the literature demonstrating increased survival after diagnosis and ultimately that factors such as cancer type, comorbidities and available treatment options are more important in predicting survival.
- Dr Jason Thomson is dermatology academic clinical fellow and Dr Anshoo Sahota is consultant dermatologist at Barts Health NHS Trust, London
Competing interests: None declared
1. Conroy T, Desseigne F, Ychou M et al. FOLFIRINOX versus gemcitabine for metastatic pancreatic cancer. N Engl J Med 2011; 364(19): 1817-25.
2. Dar I, Kamili M, Dar S et al. Sister Mary Joseph nodule – a case report with review of literature. J Res Med Sci Off J Isfahan Univ Med Sci 2009; 14(6): 385-7.
3. Urbano F. Sister Joseph’s nodule. Hospital Physician 2001; 37(5): 33-5.
4. Majumdar B, Wiskind A, Croft B et al. The Sister (Mary) Joseph nodule: its significance in gynecology. Gynecol Oncol 1991; 40(2): 152-9.
5. Srinivasan R. Metastatic cutaneous and subcutaneous deposits from internal carcinoma. An analysis of cases diagnosed by fine needle aspiration. Acta Cytol 1993; 37: 894-8.
6. Galvan V. Sister Mary Joseph’s nodule. Ann Intern Med 1998; 128(5): 410.
7. Clements AB. Metastatic carcinoma of umbilicus. JAMA 1952; 150: 556-9.