Postpartum related intrahepatic cholangiocarcinoma with FGFR2 fusion and severe hyperbilirubinemia with response to FGFR inhibitor pemigatinib: case report and review.
Postpartum related intrahepatic cholangiocarcinoma with FGFR2 fusion and severe hyperbilirubinemia with response to FGFR inhibitor pemigatinib: case report and review.
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DOI：
10.21037/jgo-23-693
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发表时间：
2023-12-31
影响因子：
2.1
通讯作者：
Tran, Nguyen
中科院分区：
文献类型：
--
作者：
Washburn, Leslie;Mahipal, Amit;Jatoi, Aminah;Kottschade, Lisa;Tran, Nguyen
关键词：
在产后或怀孕期间胆管癌是一种罕见的表现。文献中报道的病例有限。由于出现的体征和症状可能归因于妊娠或产后状态，诊断可能会延迟。我们报告了一名患有严重高胆红素血症的33岁产后肝内胆管癌的妇女，她在下一代测序（NGS）中发现成纤维细胞生长因子受体2 (FGFR2)-腺苷高半胱氨酸酶样1 （AHCYL1）融合。她最初接受两剂吉西他滨和顺铂治疗，高胆红素血症增加，需要进一步化疗。NGS显示FGFR2-AHCYL1融合，并开始使用FGFR抑制剂pemigatinib， 10天内胆红素显著下降。她的胆红素值最终恢复正常，并在随访影像中有部分缓解。据我们所知，这是第一份关于产后对FGFR抑制剂反应的报告，以及对危及生命的高胆红素血症的反应。我们的患者不耐受标准化疗，可能是由于肝功能障碍，但对培伽替尼有反应，提示肝功能障碍是由她的疾病引起的。该病例强调需要将NGS纳入初始检查，以确定重要的治疗靶点并增加可用的治疗方案，包括那些产后或怀孕的患者。
Cholangiocarcinoma during postpartum or pregnancy is a rare presentation. There are limited cases reported in the literature. Diagnosis can be delayed as presenting signs and symptoms may be attributed to pregnancy or postpartum state. We present the case of a 33-year-old postpartum woman with intrahepatic cholangiocarcinoma with severe hyperbilirubinemia who was found to have fibroblast growth factor receptor 2 (FGFR2)-adenosylhomocysteinase like 1 (AHCYL1) fusion on next-generation sequencing (NGS). She initially was treated with two doses of gemcitabine and cisplatin with increasing hyperbilirubinemia requiring hold of further chemotherapy. NGS showed FGFR2-AHCYL1 fusion, and she was started on the FGFR inhibitor pemigatinib, with dramatically decreasing bilirubin within 10 days. She eventually normalized her bilirubin values and had partial response on follow-up imaging. This is the first report, to our knowledge of response to an FGFR inhibitor in the postpartum setting, as well to show response in the setting of life-threatening hyperbilirubinemia. Our patient did not tolerate standard chemotherapy, likely due to liver dysfunction, but responded to pemigatinib, suggesting that the liver dysfunction was driven by her disease. This case underscores the need to include NGS as part of initial workup to identify important therapeutic targets and increase available lines of therapy, including those patients who are postpartum or pregnant.
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影响因子：
2.4
作者：
Tseng GW;Lin MC;Lai SW;Peng CY;Chuang PH;Su WP;Kao JT;Lai HC
通讯作者：
Lai HC
DOI：
10.1016/s1470-2045(20)30157-1
发表时间：
2020-06
期刊：
The Lancet. Oncology
影响因子：
--
作者：
Abou-Alfa GK;Macarulla T;Javle MM;Kelley RK;Lubner SJ;Adeva J;Cleary JM;Catenacci DV;Borad MJ;Bridgewater J;Harris WP;Murphy AG;Oh DY;Whisenant J;Lowery MA;Goyal L;Shroff RT;El-Khoueiry AB;Fan B;Wu B;Chamberlain CX;Jiang L;Gliser C;Pandya SS;Valle JW;Zhu AX
通讯作者：
Zhu AX
影响因子：
65.1
作者：
Banales, Jesus M.;Cardinale, Vincenzo;Alvaro, Domenico
通讯作者：
Alvaro, Domenico
DOI：
10.1016/s1470-2045(20)30109-1
发表时间：
2020-05
期刊：
The Lancet. Oncology
影响因子：
--
作者：
Abou-Alfa GK;Sahai V;Hollebecque A;Vaccaro G;Melisi D;Al-Rajabi R;Paulson AS;Borad MJ;Gallinson D;Murphy AG;Oh DY;Dotan E;Catenacci DV;Van Cutsem E;Ji T;Lihou CF;Zhen H;Féliz L;Vogel A
通讯作者：
Vogel A
影响因子：
254.7
作者：
Jemal, Ahmedin;Siegel, Rebecca;Ward, Elizabeth
通讯作者：
Ward, Elizabeth