Molecular tests are necessary to stratify cancer patients for targeted therapy. However, high cost and technical barriers limit the application of these tests, hindering optimal treatment. Recently, deep learning (DL) has been applied to predict molecular test results from digitized images of tissue slides. Furthermore, treatment response and prognosis can be predicted from tissue slides using DL. In this review, we summarized DL-based studies regarding the prediction of genetic mutation, microsatellite instability, tumor mutational burden, molecular subtypes, gene expression, treatment response, and prognosis directly from hematoxylin- and eosin-stained tissue slides. Although performance needs to be improved, these studies clearly demonstrated the feasibility of DL-based prediction of key molecular features in cancer tissues. With the accumulation of data and technical advances, the performance of the DL system could be improved in the near future. Therefore, we expect that DL could provide cost- and time-effective alternative tools for patient stratification in the era of precision oncology.
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Treatment of intrahepatic cholangiocarcinoma (iCCA) is currently at a significant turning point due to the identification of isocitrate dehydrogenase (IDH) mutations and fibroblast growth factor receptor (FGFR) fusions that can be targeted with currently available therapies. Clinical trials of these targeted therapies have been promising, and the iCCA patients who may benefit from these targeted treatments can be identified by pathological examination prior to molecular investigations. This is because IDH mutations and FGFR fusions are mainly seen in the small duct type iCCA, a subtype of iCCA defined by the 5th World Health Organization classification, which can be recognized by the pathological diagnostic process. Therefore, pathology plays an important role in precision medicine for iCCA, not only in confirming the diagnosis, but also in identifying the iCCA patients who may benefit from targeted treatments. However, caution is advised with the pathological diagnosis, as iCCA shows tumour heterogeneity, making it difficult to distinguish small duct type iCCA from hepatocellular carcinoma (HCC), and combined HCC-CCA. This review focuses on the pathological/molecular features of both subtypes of iCCA (large and small duct types), as well as their diagnostic pitfalls, clinical relevance, and future perspectives.
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Adenosquamous carcinoma of the liver is a rare variant of cholangiocarcinoma. It is known to be a highly aggressive tumor with a poor prognosis, but its pathogenesis remains unclear owing to limited data in the literature. We report a case of 56-year-old woman who presented with a 1-week history of epigastric pain. Magnetic resonance imaging revealed a 6.5-cm ill-defined mass with low signal intensity in the left lobe of the liver, which was suspicious of cholangiocarcinoma. The patient underwent left hemihepatectomy. Microscopically, the tumor consisted of malignant glandular and squamous components and staged as pT2aN1. Despite postoperative chemoradiation, the patient had recurrence 8 months after surgery.
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Hepatic Sclerosing Hemangioma with Predominance of the Sclerosed Area Mimicking a Biliary Cystadenocarcinoma Hiroyuki Sugo, Yuki Sekine, Shozo Miyano, Ikuo Watanobe, Michio Machida, Kuniaki Kojima, Hironao Okubo, Ayako Ura, Kanako Ogura, Toshiharu Matsumoto Case Reports in Hepatology.2018; 2018: 1. CrossRef
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Background/Aims Focal nodular hyperplasia (FNH) is a benign hepatic tumor with few serious complications and no malignant transformation. However, differential diagnosis between FNH and other liver tumors, especially hepatocellular carcinoma, is often difficult. Methods: Clinical features of surgically resected FNH were reviewed. From January, 1995 to February, 2003, 10 patients with surgically resected FNH were enrolled. Their age, sex, results of laboratory examination, imaging studies and pathologic findings were evaluated. Results: Median age was 37.5 years and sex ratio (male:female) was 1.5:1. In 5 cases, resection to exclude hepatic adenoma or HCC was performed. Four cases were diagnosed incidentally after surgery. Four patients had risk factors for HCC, such as hepatitis B virus infection, liver cirrhosis or both. The size of FNH was 3.2 2.2 cm. The most common site of the tumor was segment 6 (30.0%). Differential diagnosis with HCC was difficult in 5 of six cases in whom CT was performed. Although needle biopsies were performed preoperatively in 4 cases, it was difficult to distinguish FNH from hepatic adenoma or HCC. Conclusions: FNH was resected due to uncertainty of diagnosis, or incidentally during hepatectomy in patients with other liver disease. In the former, differential diagnosis with hepatic adenoma or HCC was a major problem despite extensive work-up including dynamic CT or biopsy. (Korean J Hepatol 2004;10:135-141)