A camouflaging mystery: solid-tubulocystic variant of intrahepatic cholangiocarcinoma
[Display omitted] •Solid-tubulocystic variant of iCCA presents in young patients without risk factors.•This variant exhibits NIPBL-NACC1 gene fusion with distinct biphasic histology.•Inhibin and synaptophysin may lead to misdiagnosis as neuroendocrine tumor.•Limited immunotherapy response despite hi...
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| Veröffentlicht in: | Human Pathology Reports Jg. 42; S. 300797 |
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01.11.2025
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| Abstract | [Display omitted]
•Solid-tubulocystic variant of iCCA presents in young patients without risk factors.•This variant exhibits NIPBL-NACC1 gene fusion with distinct biphasic histology.•Inhibin and synaptophysin may lead to misdiagnosis as neuroendocrine tumor.•Limited immunotherapy response despite high TMB; PD-L1 and MSI-H are not predictive.•Molecular testing in rare iCCA variants is crucial to avoid diagnostic pitfalls.
Cholangiocarcinoma is a rare and aggressive malignancy with a rising incidence in recent years. Known risk factors include cirrhosis, alcohol use, smoking history, family history of bile duct cancer, male gender, and hepatitis B and/or C. The solid-tubulocystic variant of intrahepatic cholangiocarcinoma, previously named cholangioblastic variant, is an even rarer form with only several cases reported in literature to date. Interestingly, this variant is not associated with the same risk factors as typical cholangiocarcinoma, often diagnosed in young, previously healthy females. Given its rarity, diagnosis is often delayed and optimal treatment is unknown, leading to poor prognosis. Here, we discuss the case of an 18-year-old female admitted to our hospital with solid-tubulocystic variant of cholangiocarcinoma, in which molecular analysis confirmed the presence of a characteristic NIPBL-NACC1 gene rearrangement, and our management. |
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| AbstractList | Cholangiocarcinoma is a rare and aggressive malignancy with a rising incidence in recent years. Known risk factors include cirrhosis, alcohol use, smoking history, family history of bile duct cancer, male gender, and hepatitis B and/or C. The solid-tubulocystic variant of intrahepatic cholangiocarcinoma, previously named cholangioblastic variant, is an even rarer form with only several cases reported in literature to date. Interestingly, this variant is not associated with the same risk factors as typical cholangiocarcinoma, often diagnosed in young, previously healthy females. Given its rarity, diagnosis is often delayed and optimal treatment is unknown, leading to poor prognosis. Here, we discuss the case of an 18-year-old female admitted to our hospital with solid-tubulocystic variant of cholangiocarcinoma, in which molecular analysis confirmed the presence of a characteristic NIPBL-NACC1 gene rearrangement, and our management. [Display omitted] •Solid-tubulocystic variant of iCCA presents in young patients without risk factors.•This variant exhibits NIPBL-NACC1 gene fusion with distinct biphasic histology.•Inhibin and synaptophysin may lead to misdiagnosis as neuroendocrine tumor.•Limited immunotherapy response despite high TMB; PD-L1 and MSI-H are not predictive.•Molecular testing in rare iCCA variants is crucial to avoid diagnostic pitfalls. Cholangiocarcinoma is a rare and aggressive malignancy with a rising incidence in recent years. Known risk factors include cirrhosis, alcohol use, smoking history, family history of bile duct cancer, male gender, and hepatitis B and/or C. The solid-tubulocystic variant of intrahepatic cholangiocarcinoma, previously named cholangioblastic variant, is an even rarer form with only several cases reported in literature to date. Interestingly, this variant is not associated with the same risk factors as typical cholangiocarcinoma, often diagnosed in young, previously healthy females. Given its rarity, diagnosis is often delayed and optimal treatment is unknown, leading to poor prognosis. Here, we discuss the case of an 18-year-old female admitted to our hospital with solid-tubulocystic variant of cholangiocarcinoma, in which molecular analysis confirmed the presence of a characteristic NIPBL-NACC1 gene rearrangement, and our management. Graphical abstract |
| ArticleNumber | 300797 |
| Author | Afsari, Ali Valerin, Jennifer Kroening, Gianna Jutric, Zeljka Attarian, Shirin Hasan, Nazmul Han, John Zhang, Shannon |
| Author_xml | – sequence: 1 givenname: Shannon surname: Zhang fullname: Zhang, Shannon organization: University of California Irvine, Division of Hematology/Oncology, 101 The City Drive South, Orange, CA 92868, United States – sequence: 2 givenname: Nazmul orcidid: 0009-0009-5467-7491 surname: Hasan fullname: Hasan, Nazmul email: nhasan1@hs.uci.edu organization: University of California Irvine, Division of Hematology/Oncology, 101 The City Drive South, Orange, CA 92868, United States – sequence: 3 givenname: John surname: Han fullname: Han, John organization: University of California Irvine, Division of Hematology/Oncology, 101 The City Drive South, Orange, CA 92868, United States – sequence: 4 givenname: Gianna surname: Kroening fullname: Kroening, Gianna organization: University of California Irvine, Division of Hematology/Oncology, 101 The City Drive South, Orange, CA 92868, United States – sequence: 5 givenname: Zeljka surname: Jutric fullname: Jutric, Zeljka organization: University of California Irvine, Department of Hepatobiliary and Pancreas Surgery, 101 The City Drive South, Orange, CA 92868, United States – sequence: 6 givenname: Ali surname: Afsari fullname: Afsari, Ali organization: University of California Irvine, Department of Pathology, 101 The City Drive South, Orange, CA 92868, United States – sequence: 7 givenname: Shirin surname: Attarian fullname: Attarian, Shirin organization: University of California Irvine, Division of Hematology/Oncology, 101 The City Drive South, Orange, CA 92868, United States – sequence: 8 givenname: Jennifer surname: Valerin fullname: Valerin, Jennifer organization: University of California Irvine, Division of Hematology/Oncology, 101 The City Drive South, Orange, CA 92868, United States |
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•Solid-tubulocystic variant of iCCA presents in young patients without risk factors.•This variant exhibits NIPBL-NACC1 gene fusion with... Graphical abstract Cholangiocarcinoma is a rare and aggressive malignancy with a rising incidence in recent years. Known risk factors include cirrhosis, alcohol use, smoking... |
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| Title | A camouflaging mystery: solid-tubulocystic variant of intrahepatic cholangiocarcinoma |
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