Pranay Srivastava, MD1, Syed S. Karim, DO1, Jarin Prasa, MS2, Bobby Jacob, MD1, Charudatta Wankhade, MD1, Shino Prasandhan, MD1, Kaleem Rizvon, MD, FACG1; 1Nassau University Medical Center, East Meadow, NY; 2Touro College of Osteopathic Medicine, East Meadow, NY
Introduction: Situs Inversus totalis (SIT) is only seen in 1/8000 to 1/25,000 individuals. Although not considered a premalignant condition, many different cancers have been reported associated with situs inversus totalis (stomach, colon, pancreas, ampulla of vater, and kidney). We report with the best of our knowledge, the 5th case of an adult with situs Inversus totalis and likely cholangiocarcinoma.
Methods: 42 year old female with no history presented with diffuse epigastric pain independent of meal consumption and 50 Ib weight loss over 4 months. Physical exam was noted for hepatosplenomegaly. Labs revealed WBC 26, Hgb 8.1, PLT 378, ALT 48, AST 333, ALP 443 and AFP of 4.8. CT revealed situs inversus totalis, marked hepatosplenomegaly with the spleen inseparable from the liver as well as innumerable, diffuse hypodense ill-defined lesions throughout the liver and spleen suggestive of wide spread metastasis. Liver biopsy was obtained and suggested adenocarcinoma, with likely hepatobiliary- pancreatic source per immunohistochemistry. Upper endoscopy revealed extrinsic compression in the antrum and colonoscopy was not able to be completed due to extrinsic compression near the transverse colon. The patient refused further workup with ERCP and decided to pursue palliative chemotherapy. Discussion: SIT is the left to right transposition of the thoracic and abdominal organs. Known associated abnormalities include Kartegener’s syndrome and primary ciliary dyskinesia. A risk of developing cancer has been reported and may be due to ciliary dysfunction, which leads to chronic inflammation and promotes carcinogenesis. Our patient’s underlying SIT was left undiagnosed until she presented with complaints suggestive of malignancy and had CT imaging. Colon Cancer and pancreatic cancer were considered less likely due to unremarkable endoscopic workup and CT. Liver biopsy of a metastatic lesion revealed adenocarcinoma with immunohistochemical staining positive for CK-7, CK-19 and CDX-2, which are suggestive of biliary or pancreatic origin. The diagnostic test of choice would be ERCP with biliary brushing. Although our patient did not complete her workup, her liver biopsy results and negative workup for other common primary cancers points towards cholangiocarcinoma. SIT with cholangiocarcinoma is extremely rare and only has been reported 4 times prior to this case. The association between SIT and biliary oncogenesis needs to be recognized and warrants further research.
Immunohistochemical Staining of liver biopsy
Disclosures: Pranay Srivastava indicated no relevant financial relationships. Syed Karim indicated no relevant financial relationships. Jarin Prasa indicated no relevant financial relationships. Bobby Jacob indicated no relevant financial relationships. Charudatta Wankhade indicated no relevant financial relationships. Shino Prasandhan indicated no relevant financial relationships. Kaleem Rizvon indicated no relevant financial relationships.