case_images: PMC7728995_01
case_images: Chest CT-scan performed at diagnosis in March 2017 (A), in October 2017 following first relapse (B), in February 2018 at tumor progression following first percutaneous thermal ablation (C), in May 2018 at tumor progression following second percutaneous thermal ablation and before starting chemotherapy with cisplatin and gemcitabine (D). Arrows indicate tumor lesion.
case_images: fonc-10-567289-g001.jpg
case_images: PMC7728995_01_fonc-10-567289-g001.jpg
case_images: f1
case_images: Abdominal ultrasound and computed tomography (CT) scan revealed a 10 cm intrahepatic lesion in the left lobe of the liver, as well as stable right basal lung thickening ( Figure 1A ). In October 2017, a whole body CT scan demonstrated a 2.0 cm local recurrence in segment V of the liver ( Figure 1B ). In February 2018, a whole body CT scan demonstrated a new 3.6 cm local recurrence in segment V of the liver, close to the previously treated lesion ( Figure 1C ) for which patient received a new PTA. In May 2018, a whole body CT scan demonstrated a new local recurrence in segment V of liver and multiple lesions in segment VII and VIII ( Figure 1D ).
case_images: Chest CT-scan performed at diagnosis in February 2019 at tumor progression following chemotherapy with cisplatin and gemcitabine and a third percutaneous thermal ablation and before to start treatment with FOLFIRI (A), in June 2019 at tumor progression following six cycles of FOLFIRI administration and before to start treatment with olaparib (B), in September 2019 following three cycles of olaparib (C), in November 2019 following six cycles of olaparib (D), and in February 2020 following 11 cycles of olaparib (E). Arrows indicate tumor lesion.
case_images: fonc-10-567289-g002.jpg
case_images: PMC7728995_01_fonc-10-567289-g002.jpg
case_images: f2
case_images: In February 2019, the CT scan demonstrated progression of disease (PD) (according to RECIST criteria v 1.1) due to the development of multiple small lesions localized at the hepatic dome and around the area of previous PTA, long with a large bone metastasis to the 12th vertebral body and a left upper lobe pulmonary nodule ( Figure 2A ). Figure 3 ). Because of the involvement of RAD21 in the DNA repair pathway, the interaction of BAP1 with BRCA1 and the enhanced sensitivity to PARP inhibitor administration in presence of alterations in the BRCA1-mediated DNA repair pathway, it was decided first to treat the patient with FOLFIRI every 2 weeks [irinotecan 180 mg/m2, folinic acid 400 mg/m2, 5-fluorouracil (5-FU) 400 mg/m2 intravenous infusion bolus, then 5-FU 2400 mg/m2 intravenous infusion over 46 h] and then to start a PARP inhibitor. FOLFIRI is a conventional second-line chemotherapy regimen for ICC. In addition, irinotecan is a DNA-damaging agent. Following six cycles of FOLFIRI, in June 2019, a whole-body CT scan demonstrated PD ( Figure 2B ). In September 2019, a whole-body CT scan demonstrated a partial response (PR) ( Figure 2C ). Figure 2D ) and February 2020 ( Figure 2E ). Following 11 cycles of olaparib, the progression free survival has been 11.0 months.
case_images: The figure shows BAP1 molecular analysis performed on tumor tissue samples and buffy coat by using sanger sequencing platform. In details, c. 581-17_585del22 mutation was found only in tumor tissue specimen (A) while nucleic acids extracted from buffy coat did not harbor this mutation (B).
case_images: fonc-10-567289-g003.jpg
case_images: PMC7728995_01_fonc-10-567289-g003.jpg
case_images: f3
case_images: Figure 3 ). Figure 3 ). Because of the involvement of RAD21 in the DNA repair pathway, the interaction of BAP1 with BRCA1 and the enhanced sensitivity to PARP inhibitor administration in presence of alterations in the BRCA1-mediated DNA repair pathway, it was decided first to treat the patient with FOLFIRI every 2 weeks [irinotecan 180 mg/m2, folinic acid 400 mg/m2, 5-fluorouracil (5-FU) 400 mg/m2 intravenous infusion bolus, then 5-FU 2400 mg/m2 intravenous infusion over 46 h] and then to start a PARP inhibitor. FOLFIRI is a conventional second-line chemotherapy regimen for ICC. In addition, irinotecan is a DNA-damaging agent. Following six cycles of FOLFIRI, in June 2019, a whole-body CT scan demonstrated PD ( Figure 2B ).