Sister Mary Joseph nodule revealing an ovarian carcinoma: a case report and review of the literature

The patient was a 68-year-old North African, multiparous, postmenopausal woman, with hypertension under treatment. She was admitted to our oncology center for an abdominal nodule that had been evolving for 3 months, with no other significant symptoms. The patient had a good clinical and performance status. Clinical examination found an umbilical nodule of 3cm, with a necrotic surface without any other signs (Fig.  1 A). Fig. 1 A Umbilical nodule, B complete response after systemic chemotherapy A Umbilical nodule, B complete response after systemic chemotherapy The abdominal-pelvic MRI (including T1, T2, and diffusion sequences) revealed a cystic mass with endocystic vegetations, bilobed within the right ovary, measuring 80 mm in anteroposterior diameter and 56 mm in transverse diameter, along with a pericystic mass measuring 45 mm. A second cystic lesion with a fleshy component was identified in the abdominopelvic region, measuring 135 mm × 80 mm, located laterally on the left side with extension to the umbilicus. additionally left inguinal lymphadenopathy was noted (Fig.  2 ). Fig. 2  Abdominal-pelvic magnetic resonance imaging (MRI); T1 sequence ( a ), apparent diffusion coefficient (ADC) ( b ), and diffusion ( c ), we noted a cystic formation in the abdominal-pelvic region, measuring 135 mm in transverse diameter and 80 mm in anteroposterior diameter, located laterally on the left side with extension into the umbilicus Abdominal-pelvic magnetic resonance imaging (MRI); T1 sequence ( a ), apparent diffusion coefficient (ADC) ( b ), and diffusion ( c ), we noted a cystic formation in the abdominal-pelvic region, measuring 135 mm in transverse diameter and 80 mm in anteroposterior diameter, located laterally on the left side with extension into the umbilicus Radiologic differential diagnoses included benign ovarian lesions (such as complicated endometriotic cysts or mature teratomas), peritoneal processes such as pseudomyxoma peritonei or peritoneal tuberculosis, or primary abdominal lesions, including umbilical endometriosis. The biopsy of the umbilical mass revealed a secondary umbilical localization of a moderately differentiated serous adenocarcinoma, with an immunohistochemical profile suggestive of ovarian origin (cells were positive for CK7 and WT1and negative for CD20 and CK 5/6). The tumor marker assay showed an elevation of CA125 at 321 U/ml; ACE and CA19.9 were normal. Colonoscopy and gastroenterological fibroscopy were performed and revealed no major anomalies. Thoracic CT scan was normal, and based on the presence of an umbilical metastasis, the disease was classified as stage IV ovarian cancer. The patient received 6 cycles of chemotherapy with paclitaxel (175 mg/m 2 ) and (carboplatin AUC 5). After chemotherapy, the umbilical mass had completely disappeared (Fig.  1 B), and a re-examination of MRI showed regression of the umbilical infiltration, with a decrease in the volume of the right pelvic lymphadenopathy and the left inguinal lymphadenopathy. Serological examination revealed that CA125 dropped to 30 U/ml. The patient underwent debulking surgery, including total abdominal hysterectomy, bilateral salpingo-oophorectomy, omentectomy, and peritonectomy. After operation, bevacizumab was administered for maintenance treatment. She has remained on bevacizumab for nine months, with maintained clinical, biological, and radiological stability.

The occurrence of a SMJN is rare and typically originates from abdominopelvic malignancies. It is usually associated with advanced-stage tumors, peritoneal metastases, and a poor prognosis. Its superficial and readily identifiable location underscores the importance of meticulous clinical examination and histopathological assessment, thereby facilitating timely diagnostic evaluation and initiation of appropriate oncologic management.

Globally, ovarian cancer is the eighth most common cancer in women, accounting for an estimated 3.7% of cases and 4.7% of cancer deaths in 2020 [ 3 ]. Detection is challenging due to the ovary's position in the deep pelvic cavity, and patients often exhibit no early symptoms. Reports indicate that more than 70% of patients have metastatic disease outside the ovary at the time of diagnosis. The most common sites are the pleura, liver, lungs, and lymph nodes [ 4 ]. Skin metastases are rare, occurring in 0.9–4% of patients [ 5 ]. Sister Mary Joseph nodule (SMJN) is a rare palpable umbilical metastasis that accounts for up to 3% of all abdominal and pelvic malignancies [ 6 ]. It was first described in 1949 by Sir Hamilton Bailey in honor of Sister Mary Joseph, who was the first to recognize the association between umbilical nodules and intra-abdominal malignancies [ 7 ]. The gastrointestinal tract is the most common location of the primary tumor (35–65%), followed by a gynecological origin (12–35%). Other extraperitoneal origins are reported, such as the lung, breast, and penis in 3–6% [ 8 ]. In women, ovarian cancer is the most common origin of SMJN; 42–47.7% of women with SMJN have ovarian cancer [ 9 ]. The exact pathophysiology of SMJN is unknown. Multiple hypotheses have been put forward, summarized as follows [ 8 – 11 ]: 1.Lymphatic spread via the retrograde subserosal lymphatics from the axillary, inguinal and para-aortic nodes 2.Arterial spread through an anastomosis between the inferior epigastric, lateral thoracic, and internal mammary arteries 3.Venous spread through Anastomotic branches of the axillary, internal mammary, and femoral veins The portal system via the small umbilical veins Direct extension through the peritoneum Through the urachus, the remains of the omphalomesenteric duct and falciform ligament 1.Lymphatic spread via the retrograde subserosal lymphatics from the axillary, inguinal and para-aortic nodes 2.Arterial spread through an anastomosis between the inferior epigastric, lateral thoracic, and internal mammary arteries 3.Venous spread through Anastomotic branches of the axillary, internal mammary, and femoral veins The portal system via the small umbilical veins Direct extension through the peritoneum Through the urachus, the remains of the omphalomesenteric duct and falciform ligament Among these, the contiguous spread from the intraperitoneal metastasis to the umbilicus appears to be the most common mechanism of SMJN occurrence [ 12 ]. A typical SMJN presents as a firm, irregular umbilical mass. The size of the nodule usually ranges from 0.5 to 2 cm, though it can occasionally reach up to 10 cm [ 1 ]. These nodules are often characterized by colors such as white, bluish-purple, or red, and they may be associated with pain and pruritus [ 13 ]. The surface of the nodules can appear cracked, ulcerated, or necrotic, and may exhibit secretions that are bloody, mucinous, serous, or purulent; in some cases, the surface may appear normal [ 13 ]. Our patient has a painless, irregular umbilical nodule with a necrotic surface. Differentiating between benign umbilical tumors and SJMN is critical, as the latter typically indicates metastatic disease and is associated with a poor prognosis [ 14 ]. Clinically, benign umbilical nodules, such as umbilical hernias, granulomas, and inclusion cysts, usually present as soft, painless, and slow-growing masses [ 14 ]. Primary umbilical tumors, on the other hand, are much rarer. Various types of tumors have been reported, such as melanoma, basal cell carcinoma, squamous cell carcinoma, myosarcoma, and primary adenocarcinoma [ 14 ]. Radiological assessments, including ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET), are essential for guiding the diagnostic; however, they are often insufficient [ 14 ]. A biopsy, either excisional or fine needle aspiration (FNA) considered the gold standard for diagnosis, is essential to confirm the diagnosis and identify the primary tumor [ 14 ]. In our case, the biopsy of the umbilical nodule confirmed the diagnosis of umbilical metastasis from ovarian carcinoma. Adenocarcinoma represents the most common primary histological subtype, comprising 75% of cases [ 2 ], as observed in our patient. However, there are rare instances where the disease may present as squamous cell carcinoma or undifferentiated carcinoma [ 2 ]. Although the therapeutic approach has not been standardized, it must be multidisciplinary. Numerous studies have proposed an aggressive treatment regimen combining surgical excision, radiotherapy, and chemotherapy, with a median survival rate of 17.6 to 21 months [ 15 ]. However, given that the disease is usually advanced and metastatic, often only palliative treatment is offered [ 15 ]. Our patient was treated with chemotherapy consisting of paclitaxel and carboplatin followed by debulking surgery and is now on maintenance therapy with bevacizumab. Through our literature review, we identified 9 cases of patients who presented with a Sister Mary Joseph nodule as a cutaneous metastasis of ovarian cancer, as detailed in Table  1 . Table 1 : Overview of case reports of SMJN associated with ovarian cancer in the literature References Age Histotype Presenting symptoms Radiology CA125 (UI/ml) Presence of others metastasis Therapeutic intervention Outcomes Touré et al. [ 16 ] 68 NR Umbilical swelling ulceration and oozing, abdominal pain Abdominopelvic ultrasound: right latero-uterine mass consistent with an ovarian tumour secondary heteromultinodular hepatomegaly moderate ascites 38 Peritoneum, liver symptomatic treatment Death 15 days after admission Nie et al. [ 13 ] 62 High-grade serous adenocarcinoma Abdominal distension umbilical nodule Abdominal CT scan: nodular soft tissue in the subcutaneous fat space of the umbilical area and multiple pelvic masses 1252 Peritoneum omentum 2 cycles of chemotherapy with liposomal paclitaxel and carboplatin interval-debulking surgery 6 cycles of adjuvant chemotherapy with liposomal paclitaxel and carboplatin Local relapse after 3 years of treatment Kouira et al. [ 7 ] 73 Serous adenocarcinoma Umbilical swelling Abdominal CT scan: ovarian tumor with intraperitoneal metastases, extends through a supraumbilical orifice with digestive processes in the same hernial sac 200 Omentum Pelvic lymph node Surgery: Total hysterectomy, bilateral salpingo-oophorectomy, bilateral pelvic lymphadenectomy, and omentectomy Umbilical tumor resection Adjuvant Chemotherapy: 6 cycles carboplatin and paclitaxel Clinical: CR Biological: CR Radiological: NR Calongos et al. [ 15 ] 76 Serous adenocarcinoma Umbilical nodule MRI: intra-abdominal and right lung metastatic lesions over 500 Peritoneum omentum Lung Surgery: bilateral salpingo-oophorectomy and umbilical and omentum tumor resections AdjuvantChemotherapy:6 courses of paclitaxel, carboplatin, and bevacizumab followed by maintenance with bevacizumab Clinical: CR Biological: CR Radiological: NR Poparic et al. [ 17 ] 54 Adenocarcinoma Ascites, umbilical nodule Abdominopelvic CT: expansive tumorous formation covering uterus with a carcinomatosis of peritoneum NR Peritoneum Chemotherapy surgery NR Carvey et al. [ 18 ] 82 Serous adenocarcinoma Metrorrhagia umbilical mass Abdominopelvic ultrasound: right ovarian mass and a right parauterine teratoma A solid hypo-echoic mass in the umbilicus MRI: lymph node metastasis NR External pelvic iliac lymph nodes Surgery: hysterectomy and bilateral salpingo-oophorectomy NR Hunter et al. [ 19 ] 38 High-grade mucinous adenocarcinoma with extensive elements of anaplastic carcinoma Abdominal distension umbilical mass Thoracoabdominopelvic CT: cystic solid mass arising from the left ovary abdominopelvic lymphadenopathy and ascites 419 Peritoneum Pelvic end para-aortic lymph nodes Debulking surgery: hysterectomy, bilateral salpingo-oophorectomy, omentectomy, appendicectomy, pelvic and bladder peritonectomy, dissection of pelvic and para-aortic lymph nodes Progression 1 month after debulking surgery Soo et al. [ 14 ] 64 High-grade serous carcinoma Umbilical mass associated with a foul-smelling serous discharge and pruritus Abdominal CT: right complex adnexal mass, right inguinal lymph node, enhancing soft tissue umbilical lesion 514 Peritoneum inguinal lymph node Six cycles of neoadjuvant chemotherapy debulking surgery: hysterectomy, bilateral salpingo-oophorectomy, omentectomy, pelvic lymph node dissection, and umbilical resection Clinical: CR Biological: CR Radiological: CR Yang et al. [ 20 ] 38 Low-grade serous adenocarcinoma Umbilical mass with foul-smelling discharge Abdominal CT: lobulated calcified mass within the umbilicus Left ovarian cysts punctate calcifications within and adjacent to the ovaries Normal Peritoneum Surgery: hysterectomy and bilateral salpingo-oophorectomy resection of peritoneal nodules Clinical: NR Biological: NR Radiological: NR CR Complete remission, NR not reported, CT computed tomography, MRI magnetic resonance imaging : Overview of case reports of SMJN associated with ovarian cancer in the literature 2 cycles of chemotherapy with liposomal paclitaxel and carboplatin interval-debulking surgery 6 cycles of adjuvant chemotherapy with liposomal paclitaxel and carboplatin Surgery: Total hysterectomy, bilateral salpingo-oophorectomy, bilateral pelvic lymphadenectomy, and omentectomy Umbilical tumor resection Adjuvant Chemotherapy: 6 cycles carboplatin and paclitaxel Clinical: CR Biological: CR Radiological: NR Peritoneum omentum Lung Surgery: bilateral salpingo-oophorectomy and umbilical and omentum tumor resections AdjuvantChemotherapy:6 courses of paclitaxel, carboplatin, and bevacizumab followed by maintenance with bevacizumab Clinical: CR Biological: CR Radiological: NR Abdominopelvic ultrasound: right ovarian mass and a right parauterine teratoma A solid hypo-echoic mass in the umbilicus MRI: lymph node metastasis Six cycles of neoadjuvant chemotherapy debulking surgery: hysterectomy, bilateral salpingo-oophorectomy, omentectomy, pelvic lymph node dissection, and umbilical resection Clinical: CR Biological: CR Radiological: CR Abdominal CT: lobulated calcified mass within the umbilicus Left ovarian cysts punctate calcifications within and adjacent to the ovaries Surgery: hysterectomy and bilateral salpingo-oophorectomy resection of peritoneal nodules Clinical: NR Biological: NR Radiological: NR CR Complete remission, NR not reported, CT computed tomography, MRI magnetic resonance imaging This nodule often indicates a poor prognosis, as it usually presents an advanced stage of the tumor. Average survival is estimated at two to 11 months without treatment [ 2 ].

The Sister Mary Joseph's Nodule (SMJN) refers to a metastatic tumor deposit at the umbilicus, an anatomical site where the peritoneum is closest to the skin. It is generally associated with intra-abdominal epithelial tumors [ 1 ]. The most common histology is adenocarcinoma. The nodule is typically linked to an advanced malignant neoplasm and is associated with a poor prognosis [ 2 ], given that SMJN is an uncommon initial manifestation of ovarian cancer, recognizing this sign is clinically important as it can lead to earlier diagnostic suspicion of an underlying intra-abdominal malignancy. We present here the case of an ovarian cancer revealed by a Sister Mary Joseph’s nodule, highlighting the diagnostic value of this rare presentation.