DNAJB1-PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient

Samuel Balbeur; Adeline Dumortier; Julien Mergen; Louis Libbrecht; Michael Torbenson; Cecile Boulanger; Maelle de Ville de Goyet; An Van Damme; Bénédicte Brichard

doi:10.1002/pbc.28060

DNAJB1-PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient

Samuel Balbeur, Adeline Dumortier, Julien Mergen, Louis Libbrecht, Michael Torbenson, Cecile Boulanger, Maelle de Ville de Goyet, An Van Damme, Bénédicte Brichard

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

Abstract

Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma, occurring in children and young adults without underlying liver disease. The diagnosis is based on morphological characteristics of the tumor, supplemented by immunohistochemistry and/or genetic testing. Recently, the presence of a characteristic DNAJB1-PRKACA fusion gene has been associated with FLC. Herein, we report a case of FLC presenting as peritoneal carcinomatosis in a 14-year-old female. Interestingly, no liver tumor was seen on imaging, and an alternative possibility is that the tumor arose outside the liver as a hepatoid carcinoma with fibrolamellar features.

Original language	English (US)
Article number	e28060
Journal	Pediatric Blood and Cancer
Volume	67
Issue number	2
DOIs	https://doi.org/10.1002/pbc.28060
State	Published - Feb 1 2020

Keywords

cancer genetics
liver
pediatric hematology/oncology
tumors

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.28060

Cite this

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title = "DNAJB1-PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient",

abstract = "Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma, occurring in children and young adults without underlying liver disease. The diagnosis is based on morphological characteristics of the tumor, supplemented by immunohistochemistry and/or genetic testing. Recently, the presence of a characteristic DNAJB1-PRKACA fusion gene has been associated with FLC. Herein, we report a case of FLC presenting as peritoneal carcinomatosis in a 14-year-old female. Interestingly, no liver tumor was seen on imaging, and an alternative possibility is that the tumor arose outside the liver as a hepatoid carcinoma with fibrolamellar features.",

keywords = "cancer genetics, liver, pediatric hematology/oncology, tumors",

author = "Samuel Balbeur and Adeline Dumortier and Julien Mergen and Louis Libbrecht and Michael Torbenson and Cecile Boulanger and {de Ville de Goyet}, Maelle and {Van Damme}, An and B{\'e}n{\'e}dicte Brichard",

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year = "2020",

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doi = "10.1002/pbc.28060",

language = "English (US)",

volume = "67",

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T1 - DNAJB1-PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient

AU - Balbeur, Samuel

AU - Dumortier, Adeline

AU - Mergen, Julien

AU - Libbrecht, Louis

AU - Torbenson, Michael

AU - Boulanger, Cecile

AU - de Ville de Goyet, Maelle

AU - Van Damme, An

AU - Brichard, Bénédicte

PY - 2020/2/1

Y1 - 2020/2/1

N2 - Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma, occurring in children and young adults without underlying liver disease. The diagnosis is based on morphological characteristics of the tumor, supplemented by immunohistochemistry and/or genetic testing. Recently, the presence of a characteristic DNAJB1-PRKACA fusion gene has been associated with FLC. Herein, we report a case of FLC presenting as peritoneal carcinomatosis in a 14-year-old female. Interestingly, no liver tumor was seen on imaging, and an alternative possibility is that the tumor arose outside the liver as a hepatoid carcinoma with fibrolamellar features.

AB - Fibrolamellar carcinoma (FLC) is a rare variant of hepatocellular carcinoma, occurring in children and young adults without underlying liver disease. The diagnosis is based on morphological characteristics of the tumor, supplemented by immunohistochemistry and/or genetic testing. Recently, the presence of a characteristic DNAJB1-PRKACA fusion gene has been associated with FLC. Herein, we report a case of FLC presenting as peritoneal carcinomatosis in a 14-year-old female. Interestingly, no liver tumor was seen on imaging, and an alternative possibility is that the tumor arose outside the liver as a hepatoid carcinoma with fibrolamellar features.

KW - cancer genetics

KW - liver

KW - pediatric hematology/oncology

KW - tumors

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DNAJB1-PRKACA–positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient

Abstract

Keywords

ASJC Scopus subject areas

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