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Acquired drug resistance: case report A woman in her late 30s [exact age at onset not stated] developed acquired drug resistance during treatment with imatinib, sorafenib and sunitinib for gastrointestinal stromal tumour (GIST) in India [not all dosages stated; routes not stated]. The woman presented in September 2012 (at the age of 37 years) with history of progressive increase in abdominal pain for two and half months. She underwent diagnostic laparoscopy and biopsy of peritoneal lesions based on ultrasound scans of the abdomen and pelvis. Based on the clinical and laboratorial findings, a diagnosis of GIST was made. Therefore, she started receiving treatment with imatinib 400 mg/day. She tolerated and responded well to the imatinib therapy. However, imatinib therapy was stopped 1 week prior to exploratory laparotomy-omentectomy and peritoneal debulking, which were performed in March 2013 at a hospital in Bangalore, India. Her post-operative period was uneventful. Therefore, imatinib therapy 400 mg/day was restarted for 2 weeks from postoperative day till September 2013. Despite receiving imatinib therapy, she complained of frequent abdominal pain. As a result, findings suggested recurrent peritoneal disease. Therefore, she started receiving second-line therapy with sunitinib 50 mg/day for 4 weeks and 2 weeks off. In July 2014, her disease progressed. Subsequently, a third-line treatment with sorafenib was started from September 2014. Symptomatically, she did not show any improvement. In October 2014, ultrasound scan of the abdomen and pelvis showed mass in left lumbar region with suspicious infiltration of left kidney and masses in hepatic surface, periportal, pancreatic and lesser sac regions, thus conferring metastases. As a result, metastases to kidney, liver and pancreas was considered. The scanning also showed uncovered extensive peritoneal deposits, few hypoechoic lesions in liver and moderate ascites. An ultrasound-guided biopsy of abdominal mass confirmed metastatic GIST with peritoneal metastases. Based on these findings, acquired drug resistance to imatinib, sunitinib and sorafenib was considered. Thereafter, genetic testing was suggested. Genetic analysis by next generation sequencing revealed four alterations in KIT kinase domain in exons 11 (p.Val559_Asn566del), 13 (p.Val654Ala), 14 (p. Asp677Asn) and 17 (p.Asp820His). She was admitted to the hospital in November 2014 for symptomatic treatment. However, her general condition deteriorated gradually, and she died due to GIST in December 2014. Sheela ML, et al. Molecular basis of ckit mutation in recurrent gastrointestinal stromal tumour (GIST): A case report from India. International Journal of Human Genetics 20: 803499070 73-81, No. 2, 2020. Available from: URL: http://doi.org/10.31901/24566330.2020/20.2.749

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Reactions 5 Sep 2020 No. 1820