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Case report


Malignant Transformation of Hepatic Adenoma in Glycogen Storage Disease Type-1a: Report of an Exceptional Case Diagnosed on Surveillance Imaging.

Akshay D BahetiMatthew M YehRyan O'MalleyNeeraj Lalwani
Date of Submission: 04-Jul-2015, Date of Acceptance: 18-Aug-2015, Date of Web Publication: 31-Aug-2015.
Corresponding Author:
Corresponding Author

Neeraj Lalwani

University of Washington, Seattle, Washington ‑ 98104‑2499, USA.
E-mail: neerajl@u.washington.edu

Corresponding Author:
Corresponding Author

Neeraj Lalwani

University of Washington, Seattle, Washington ‑ 98104‑2499, USA.
E-mail: neerajl@u.washington.edu

DOI: 10.4103/2156-7514.163991 Facebook Twitter Google Linkedin

ABSTRACT


Hepatocellular adenoma is a heterogeneous group of benign neoplasms arising from hepatocellular cells and can be subclassified into four major groups based on genotypic and phenotypic characteristics. These four subtypes are hepatocyte nuclear factor (HNF) 1α-inactivated, β-catenin-activated, inflammatory, and unclassified adenomas. Immunohistochemistry studies have demonstrated that since β-catenin-activated adenomas have a higher risk of malignant transformation, the identification of the subtype of adenoma remains crucial in patient management. However, malignant transformation of hepatic adenoma without β-catenin overexpression can be seen in 30-65% cases. We report a case of malignant transformation of hepatic adenoma without overexpression of β-catenin in a 31-year-old man with a known glycogen storage disease (GSD) Type-1a, which was diagnosed on surveillance magnetic resonance imaging (MRI). The MRI showed a mild interval increase in one lesion with relative stability of the other adenomas. The lesion was presumed to be suspicious for a hepatocellular carcinoma (HCC) and was confirmed on pathology.
Keywords: Glycogen Storage Disease, Hepatic Adenoma, Hepatocellular Carcinoma, Malignant Transformation, β-catenin Mutation

Cited in 7 Documents

  1. Joan Saldarriaga, Bettina Bisig, Gabrielle Couchy, Claire Castain, Jessica Zucman-Rossi, Charles Balabaud, Christine Sempoux and Paulette Bioulac-Sage (2017) Focal β-catenin mutation identified on formalin-fixed and paraffin-embedded inflammatory hepatocellular adenomas. Histopathology 71(6):989. doi: 10.1111/his.13283
  2. Lauren R Waskowicz, Jin Zhou, Dustin J Landau, Elizabeth D Brooks, Andrea Lim, Zollie A Yavarow, Tsubasa Kudo, Haoyue Zhang, Yajun Wu, Stuart Grant, Sarah P Young, Bay Boon Huat, Paul M Yen and Dwight D Koeberl (2018) Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia. :. doi: 10.1093/hmg/ddy343
  3. Elizabeth D. Brooks, Dustin J. Landau, Jeffrey I. Everitt, Talmage T. Brown, Kylie M. Grady, Lauren Waskowicz, Cameron R. Bass, John D'Angelo, Yohannes G. Asfaw, Kyha Williams, Priya S. Kishnani and Dwight D. Koeberl (2018) Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. J Inherit Metab Dis 41(6):965. doi: 10.1007/s10545-018-0223-y
  4. Xue-Yin Shen, Xu-Guang Hu, Young-Bae Kim, Mi-Na Kim, Sung-Yeon Hong, Bong-Wan Kim and Hee-Jung Wang (2019) Molecular classification of hepatocellular adenoma: A single-center experience. Ann Hepatobiliary Pancreat Surg 23(2):109. doi: 10.14701/ahbps.2019.23.2.109
  5. Branko Cuglievan, Brian A. Menegaz, April DePombo, Ajaykumar C. Morani, Roberto N. Miranda and Michael Rytting (2017) A pediatric patient with glycogen storage disease type IA and Castleman disease. Pediatr Blood Cancer 64(8):e26431. doi: 10.1002/pbc.26431
  6. Janardhana Ponnatapura, Ania Kielar, Lauren M.B. Burke, Mark E. Lockhart, Abdul-Rahman Abualruz, Rafel Tappouni and Neeraj Lalwani (2019) Hepatic complications of oral contraceptive pills and estrogen on MRI: Controversies and update - Adenoma and beyond. Magnetic Resonance Imaging 60:110. doi: 10.1016/j.mri.2019.04.010
  7. Jennifer Pogoriler, Allison F O’Neill, Stephan D Voss, Robert C Shamberger and Antonio R Perez-Atayde (2018) Hepatocellular Carcinoma in Fanconi-Bickel Syndrome. Pediatr Dev Pathol 21(1):84. doi: 10.1177/1093526617693540

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