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Plain English summary of "Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma"

Published in Science magazine, February 28, 2014.  Link to article

Honeyman JN1, Simon EP, Robine N, Chiaroni-Clarke R, Darcy DG, Lim II, Gleason CE, Murphy JM, Rosenberg BR, Teegan L, Takacs CN, Botero S, Belote R, Germer S, Emde AK, Vacic V, Bhanot U, LaQuaglia MP, Simon SM., Science 2014: PMID: 24578576

This is the first article to characterize the molecular causes for fibrolamellar hepatocellular carcinoma. The results show there is a small deletion in one of the two copies of chromosome 19 in every fibrolamellar patient tested. The deletion results in two different genes getting fused together in what is called a chimera. The deletion was only in the tumor tissue, not the adjacent tissue. This leads to a few conclusions:

  • Fibrolamellar is not inherited (the glitch is not in any of the chromosomes of the normal tissue).
  • Fibrolamellar seems to be one disease – all the patients have the same alteration.

For further information, see this video from one of the co-authors: