DNAJB1-PRKACA-positive metastatic fibrolamellar carcinoma with unknown primary in a pediatric patient.
Adolescent
Antineoplastic Combined Chemotherapy Protocols
/ therapeutic use
Carcinoma, Hepatocellular
/ drug therapy
Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
/ genetics
Female
Gene Rearrangement
HSP40 Heat-Shock Proteins
/ genetics
Humans
Neoplasms, Unknown Primary
/ drug therapy
Peritoneal Neoplasms
/ drug therapy
Prognosis
cancer genetics
liver
pediatric hematology/oncology
tumors
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
10
05
2019
revised:
26
09
2019
accepted:
07
10
2019
pubmed:
19
11
2019
medline:
23
4
2020
entrez:
19
11
2019
Statut:
ppublish
Résumé
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.
Substances chimiques
DNAJB1 protein, human
0
HSP40 Heat-Shock Proteins
0
Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
EC 2.7.11.11
PRKACA protein, human
EC 2.7.11.11
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e28060Informations de copyright
© 2019 Wiley Periodicals, Inc.
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