Fibrolamellar hepatocellular carcinoma

[1][2][4][5] A 2014 study showed the presence of the DNAJB1-PRKACA chimeric transcript (resulting from a 400kb somatic deletion on chromosome 19) in 100% of the FLCs examined (15/15).

[1] Tumors are non-encapsulated, but well circumscribed, when compared to conventional HCC (which typically has an invasive border).

[citation needed] Due to lack of symptoms, until the tumor is sizable, this form of cancer is often advanced when diagnosed.

[14] Other presentations include jaundice, ascites, fulminant liver failure, encephalopathy, gynecomastia (males only), thrombophlebitis of the lower limbs, recurrent deep vein thrombosis, anemia and hypoglycemia.

FLC often does not produce alpha fetoprotein (AFP), a widely used marker for conventional hepatocellular carcinoma.

[15] Likewise, in a subset of FLC patients, elevated serum vitamin B12 binding globulin levels may be present.

Liver resection is the optimal treatment and may need to be performed more than once, since this disease has a very high recurrence rate.

The survival rate for FLC largely depends on whether (and to what degree) the cancer has metastasized, i.e. spread to the lymph nodes or other organs.

[21] This work led to the identification of the chimeric fusion driver and the first characterization of the transcriptome and proteome.

The work was heralded by Francis Collins when he presented to the Senate Appropriations committee[31] and was used by President Obama at the launch of The Precision Medicine Initiative at the White House.