Clinical Case Summary

Introduction: Rhabdomyosarcoma (RMS) is a primitive malignant mesenchymal tumor with striated muscle tissue differentiation, common in children, while extremely rare in adults. RMS can arise in any anatomical location of the body, including skeletal muscle-free tissues, but primary gastrointestinal RMS is very unusual. Epithelioid rhabdomyosarcoma (EpRMS) is a recently recognized highly aggressive rare variety, not yet included in the WHO classification. It is histologically characterized by poorly differentiated cells with desmin expression and specific skeletal muscle markers.
Case Presentation: We present an 85-year-old man with worsening nausea, occasional vomiting episodes, anorexia, dizziness, and balance disturbances, that developed in less than a month. Gastroscopy revealed a vegetative lesion of approximately 2.5 cm in the gastroesophageal junction, covered with eroded, disorganized, and spontaneously bleeding mucosa. The histopathological evaluation, by evidencing a monomorphic tissue containing cells with prominent nucleoli, as well as the immunohistochemical (IHC) stain showing negativity for cytokeratin (MN116) with positivity for CD10, Vimentin, Desmin, MyoD1, and fluctuating p53, contributed to a conclusive diagnosis of primitive gastric EpRMS. The patient underwent a total body CT scan, assessing metastases in several sites including the brain. Due to clinical conditions, the patient was eligible only for best supportive care and died approximately 20 days after the diagnosis.
Conclusion: Given the rarity of this lesion, considering its aggressivity leading to the identification only when the disease is advanced and no longer treatable, still very little is known about primitive EpRMS of the stomach. Its peculiar immunohistochemical features make gastric EpRMS diagnosis a challenge even for experienced pathologists. In this setting, to include proper immunohistochemical stains when facing malignant cells with an epithelioid morphology appears crucial

References

1. Haug L, Doll J, Appenzeller S, Kunzmann V, Rosenwald A, Maurus K, Gerhard-Hartmann E. Epithelioid and spindle cell rhabdomyosarcoma with EWSR1::TFCP2 fusion mimicking metastatic lung cancer: A case report and literature review. Pathol Res Pract. 2023 Sep;249:154779. doi: 10.1016/j.prp.2023.154779. Epub 2023 Aug 22. PMID: 37633005.
2. Chen J, Liu X, Lan J, Li T, She C, Zhang Q, Yang W. Rhabdomyosarcoma in Adults: Case Series and Literature Review. Int J Womens Health. 2022 Mar 28;14:405-414. doi: 10.2147/IJWH.S352143. PMID: 35370426; PMCID: PMC8973688.
3. Nakamura N, Suzuki R, Takahashi Y, Uwamori A, Masuda M, Fukui T, Noda Y, Tsuta K, Naganuma M. Primary Gastric Rhabdomyosarcoma. Intern Med. 2023 Dec 1;62(23):3483-3488. doi: 10.2169/internalmedicine.1645-23. Epub 2023 Apr 21. PMID: 37081684; PMCID: PMC10749818.

Clinical Case Summary

A 62-year-old female, followed for hypothyroidism and is receiving Levothyroxine at a dosage of 100 µg daily, with a prior surgical removal of a subcutaneous lipoma located on the dorsal region, presented with isolated persistent postprandial vomiting over the past four months. Physical examination revealed mild dehydration; the abdomen was soft with no palpable mass. Laboratory tests showed a hypercalcemia, no other abnormalities were noted.
Gastroscopy revealed an erythematous gastric mucosa and a mass protruding into the antrum with normal overlying mucosa and a yellow hue; a sponge-like sinking impression was observed as the biopsy forceps was gently pushed into the lesion. Systematic gastric biopsies revealed a chronic nonspecific gastritis, the mass was not biopsied. An abdominal computed tomography (CT) scan depicted a gastric homogenous low-density mass of fatty tissue and three intramuscular masses with the same characteristics in the thigh, the largest measuring 5cm. the CT scan also revealed a suspicious osteolytic lesion of the iliac crest. An endoscopic ultrasound (EUS) showed a hypoechoic well-defined mass arising from the third parietal layer consistent with a lipoma. A thigh magnetic resonance imaging (MRI) revealed intramuscular lesions with the circumscribed, low attenuation mass compatible with lipomas. A biopsy of the osteolytic lesion revealed a multiple myeloma. The patient is scheduled to receive chemotherapy for the multiple myeloma as for the lipomas, no treatment was warranted.

Introduction

Patients with inflammatory bowel disease (IBD) in clinical and endoscopic remission may still experience disease relapse. Therefore, there is an unmet need for reliable predictors of outcomes to enable a personalized therapeutic approach. Recently, a novel histological score has highlighted the pivotal role of neutrophils in predicting disease outcomes in Ulcerative Colitis (UC)¹. Furthermore, the impairment of the intestinal barrier plays a key role in forecasting disease outcomes in UC and Crohn’s disease (CD). Hence, this study aims to assess the predictive role of neutrophils according to their tissue localization and intestinal barrier protein expression in IBD patients.

Aims & Methods

IBD patients in clinical remission who underwent colonoscopy between January 2020 and June 2022 at two tertiary referral centres were enrolled. Patients with a Mayo Endoscopic Score ≤1 for UC and a Simple endoscopic score of ≤6 for CD were included. The histological activity was assessed using the Robarts Histopathology Index, Nancy Histological Index, and PICaSSO Histological Remission Index. Neutrophil localization in the epithelium and lamina propria was carefully evaluated by experienced pathologists. Additionally, the immunohistochemical expression of barrier proteins, such as Claudin-2 and JAM (junctional adhesion molecule)-A, was assessed to evaluate the integrity of the intestinal barrier.

Results

Out of 60 UC and 76 CD patients, 60% were in histological activity. 25.8% of patients developed an adverse outcome within 12 months. Only neutrophils in the epithelium and not in lamina propria could predict adverse outcomes for UC (HR 5.20, p=.01) and CD (HR 4.38, p=.03) patients in endoscopic remission. Moreover, epithelial Claudin-2 expression correlated with endoscopic and histological disease activity and predicted outcomes in UC. Combining neutrophils in the epithelium or Claudin-2 expression significantly predicted outcomes in UC patients (HR 3.23, p=.035). Similar results were found for JAM-A in CD despite this protein showing less specificity as a barrier predictor of outcome.

Conclusion

This multicentre study highlights the potential role of epithelial neutrophil localization and Claudin-2 ‘leaky gut’ protein expression as practical clinical tools for predicting outcomes in IBD and potentially guiding patient-tailored therapy.

References

¹Gui X et al., Gut. 2022;71(5):889-898.

Disclosure

None

Clinical Case Summary

A 58-year-old female patient with a history of repeated colon resections for fistulizing Crohn's disease on biological therapy with vedolizumab, comes in for dark urine and jaundice. Laboratory examination revealed elevated obstructive enzymes and bilirubin. Sonography showed dilated intrahepatic and extrahepatic bile ducts without signs of choledocholithiasis. We perform endoscopic retrograde cholangiopancreatography (ERCP) with papillotomy. Cholangiogram shows irregular dilated left-sided bile ducts and unclear findings in the hilum area. A brush cytology was taken and a stent was inserted into the right-sided bile ducts. Reactive changes of biliary epithelia in inflammatory terrain were found in brush cytology. MRCP shows pathological masses in the hepatic junction, which have a higher signal than bile in T1W, similar changes in a short section of dist. choledochus just above the papilla. We performed a second ERCP with wedge biopsy and brush cytology from both hilum and distal choledochus, which were evaluated as malenoma metastasis. A review of the patient's medical history revealed the removal of malignant melanoma of the skin 7 years ago. The extent of the disease did not allow surgical resection and the patient was referred to a specialized centre for oncological treatment.
Conclusion: Metastasis of melanoma in the common bile duct is an extremely rare cause of jaundice. It should be thought of in patients with obscure masses in the bile ducts with hyperintense signal on T1W MR sequences. Taking a thorough medical history is particularly important.