Salazar-Marcelino AE, Mendoza-Torres MÁ, Fernández-Tamayo N, Martínez-Maya HJ

Language: Spanish
References: 20
Page: 152-156
PDF size: 667.17 Kb.

ABSTRACT

Ataxia telangiectasia (AT) is an autosomal recessive disease (AR), caused by mutations in the gene ATM (ataxia telangiectasia mutated, 11q22.3) and is characterized by chromosomal instability prevalence of 1/300,000 cases. The clear cell hepatocellular carcinoma (HCC) is a rare histologic variant, with a prevalence of 0.4 to 37%. After an exhaustive search of the literature only 3 cases of HCC AT were found, but no case has been reported in Mexico. Exceptional case of a 23-year-old woman with metastatic HCC and AT is reported in a tertiary hospital in Puebla.

REFERENCES

1. Lavin MF, Gueven N, Bottle S, Gatti RA. Current and potential therapeutic strategies for the treatment of ataxiatelangiectasia. Br Med Bull 2007;81-82:129-147.

2. Reliene R, Schiestl RH. Experimental antioxidant therapy in ataxia telangiectasia. Clin Med Oncol 2008;2:431-436.

3. Navarrete-Meneses MP, Perez-Vera P. Síndromes de inestabilidad cromosómica asociados con inmunodeficiencia: aspectos citogenéticos de importancia en el diagnóstico. Pediatrics 2012;21:13-22.

4. Zielen S, Schubert R. Workshop report: European workshop on ataxia telangiectasia. J Neurogenet 2011;25:78- 81.

5. Gatti-Richard A. Ataxia-telangiectasia [Louis-Bar syndrome]. Gene Reviews 2010;15:2.

6. Monterrubio Ledezma, Corona Rivera y col. Ataxia telangiectasia. Diagnóstico y seguimiento en una serie de cuatro casos. Gac Méd Méx 2013;149:448-453.

7. Oliveira AM, Erickson LA, Burgart LJ, Lloyd RV. Differentiation of primary and metastatic clear cell tumors in the liver by in situ hybridization for albumin messenger RNA. Am J Surg Pathol 2000;24:177-182.

8. EmileJF, Lemoine A, Azoulay D, Debuire B, et al. Histological, genomic and clinical heterogeneity of clear cell hepatocellular carcinoma. Histopathology 2001;38:225-231.

9. Núñez. Clear cell hepatocarcinoma. Gastroenterología y hepatología 2003;26:614-618.

10. Patil MM. Ataxia telangiectasia with hepatocellular carcinoma. Indian Pediatrics 2009;46.

11. Targownik LE, et al. The role of rapid endoscopy for highrisk patients with acute nonvariceal upper gastrointestinal bleeding. Can J Gastroenterol 2007.

12. Spiegel B. Endoscopy for acute upper GI tract hemorrhage: sooner is better. Gastrointest Endosc 2009;70.

13. Colina. Protocolo y guía para el diagnóstico histopatológico de carcinoma hepatocelular. Rev Esp Pat 2007;40.

14. Bisceglie. Sleisenger and Fordtran’s. Gastrointestinal and liver disease. 10th ed. 2015;1603-1628.

15. Sola Gallego. Caracterización inmunohistoquímica de los tumores hepáticos. Una aproximación práctica al diagnóstico del hepatocarcinoma. GH continuada 2010;9:30-36.

16. Kakar S, Gown A, Goodman Z, Ferrell LD. Best practices in diagnostic immunohistochemistry. Hepatocellular carcinoma versus metastatic neoplasms. Arch Pathol Lab Med 2007;131:1648-1654.

17. Matsuura S, Aishima S, Taguchi K, Asayama Y, et al. “Scirrhous” type hepatocellular carcinomas: a special reference to expression of cytokeratin 7 and hepatocyte paraffin 1. Histopathology 2005;47:382-390.

18. Chu P, Ishizawa S, Wu E, Weiss LM. Hepatocyte antigen as a marker of hepatocellular carcinoma. An immunohistochemical comparison to carcinoembryonic antigen, CD10, and alpha-fetoprotein. Am J Surg Pathol 2002;26:978-988.

19. Kamath. Sleisenger and Fordtran’s. Gastrointestinal and liver disease. 10th ed. 2015;1254-1260.

20. Vílchez Rabelo A, Fundora Y, Molina Martín AA, Villegas T y col. Hepatocarcinoma de células claras: variante poco frecuente de carcinoma hepático. Cir Esp 2014;92:636.