Hepatocellular Carcinoma in the Adolescent With Classical Familial Adenomatous Polyposis: Clinical Case

Background. Hepatocellular carcinoma is rare disease in pediatrics, it affects mostly male adolescents aged 10–15 years. There are only 10 described cases of hepatocellular carcinoma and familial adenomatous polyposis combination.

Clinical Case Description. Patient G., 16 years, visited the pediatrician with complaints on low fever episodes and abdominal pain. The abdominal ultrasound was performed. Non-homogeneous mass was revealed in the left lobe of the liver. Contrast X-ray computer tomography has revealed large pathological mass in the left lobe of the liver (atypical haemangioma? adenoma?). Adenoma phenotype was established in obtained needle biopsy material. The child has undergone the resection of the left lobe of the liver with plastic reconstruction of the left hepatic vein entry. Histological examination of the surgical specimen has confirmed the presence of hepatocellular carcinoma. Peripheral blood α-fetoprotein levels remained within normal range throughout the follow-up. In past medical history: classical familial adenomatous polyposis in the mother (diagnosis has been established 3 years before the clinical events in the child). The genetic testing of APC gene (Adenomatous Poliposis Coli) was performed after detection of the tumor in the child’s liver. The pathological allele similar to that previously found in the mother has been identified. 

Conclusion. Timely diagnosis of familial adenomatous polyposis, risk awareness on combined course of polyposis with various malignant tumors, as well as monitoring of health condition of the child are necessary to diagnose hepatocellular carcinoma on its early stages.

1. Rak pecheni (gepatotsellyulyarnyy). Klinicheskiye rekomendatsii. Assotsiatsiya onkologov Rossii; 2019. 56 p. (In Russ). Available online: https://oncologyassociation.ru/files/new-clinical-guidelines/rak_pecheni.pdf. Ссылка активна на 06.03.2020.

2. Rossina AL, Chuelov SB, Smirnov AV, et al. Hepatocellular carcinoma in a child with HBV infection. Detskie infeksii. 2006;1:77–78. (in Russ).

3. Rossiiskii onkologicheskii nauchnyi tsentr im. N.N. Blokhina RAMN. Opukholi pecheni. (In Russ). Available online: https://www.ronc.ru/children/treatment/diseases/opukholipecheni. Link active on03.03.2020.

4. Patyutko YuI, Polyakov AN, Kudashkin NE, et al. Hepatocellular carcinoma — the treatment strategy. Annaly khirurgii. 2015;5:18–23. (in Russ).

5. Breder VV, Patiotko YI, Peregudova MV, et al. Comparative analysis of the modern staging systems of hepatocellular carcinoma — TNM/AJCC, CUPI, CLIP and BCLC from everyday clinical practice in Russia. The experience of Russian Oncological Scientific Center n.a. N.N. Blokhin. Malignant Tumours. 2016;2:28–36. (In Russ). doi: 10.18027/2224-5057-2016-2-28-36.

6. Breder VV, Kosyrev VY, Kudashkin NE, et al. Hepatocellular carcinoma as a social and medical problem in the Russian Federation. Meditsinskiy Sovet. 2016;10:10–18. (In Russ). doi: 10.21518/2079-701X-2016-10-10-16.

7. Breder VV, Laktionov KP. Gepatotsellyulyarnyy rak promezhutochnoy stadii. BCLC B — ofitsialnye rekomendatsii, kak strategiya bazisnogo lecheniya i tochka otscheta v otsenke effektivnosti novyh podhodov. Malignant Tumours. 2016;4 s1:29–35. (In Russ). doi: 10.18027/2224-5057-2016-4s1-29-35.

8. Lukyanchenko AB, Medvedeva BM. Sovre mennaya taktika raspoznovaniya novoobrazovaniy pecheni. Moscow: Prakticheskaya medicina; 2015. 184 p. (In Russ).

9. Kazantseva MA, Breder VV, Laktionov KK. Immunotherapy for hepatocellular cancer: beginning and future perspectives. Meditsinsky Sovet. 2019;10:15–21. (In Russ). doi: 10.21518/2079-701X-2019-10-15-21.

10. Rajeev Kh, Sanjeev KV. Pediatric hepatocellular carcinoma. World J Gastroenterol. 2018;24(35):3980–3999. doi: 10.3748/wjg.v24.i35.3980.

11. Reprinted from Genetics Home Referenc [Internet]. Familial adenomatous polyposis. [updated October 2013; cited 2020 March 3]. Available online: https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis.

12. Kazubskaya TP, Belev NF, Kozlo va VM, et al. The Hereditary Syndromes Associated with Polyps and Development of Malignant Tumours in Children. Onkopediatria. 2015;2(4):384–395. (In Russ). doi: 10.15690/onco.v2.i4.1465.

13. EASL-EORTC clinical practice guidelines: management of hepatocellular carcinoma. Journal of Hepatology. 2012;56(4):908–943. (In Russ).

14. Muzaffarova TA, Karpuhin AV. Features of mutations in АРС gene. Universum: Meditsina i farmakologiya: elektronnyy nauchnyy zhurnal. 2016;11(33). (In Russ). Available online: http://7universum.com/ru/med/archive/item/3859. Link active on 03.03.2020.

15. Anikina MS. Semeynyy adenomatoznyy polipoz. EndoExpert. 2019;2(8):19–28. (In Russ).

16. Tsukanov AS, Pospekhova NI, Shubin VP, et al. Russian Journal of Genetics. 2017;53(3):356–363. (In Russ). doi: 10.7868/S0016675817030134.

17. Koloproktologiya. (In Russ). Available online: http://www.proctolog.ru/diseases_24_polyposis.htm. Link active on 03.03.2020.

18. Li M., Gerber D.A., Koruda M., O’Neil B.H. Hepatocelluar Carcinoma Associated With Attenuated Familial Adenomatous Polyposis: A Case Report and Review of the Literature. Clin Сolorectal Сancer. 2012;11(1):77–81. doi: 10.1016/j.clcc.2011.05.007.

19. Prikaz Ministerstva zdravookhraneniya RF ot 21 marta 2014 g. N 125n “Ob utverzhdenii natsional’nogo kalendarya profilakticheskikh privivok i kalendarya profilakticheskikh privivok po epi demicheskim pokazaniyam” (s izmeneniyami i dopolneniyami ot 24 aprelya 2019 g.). Prilozhenie № 1. Natsional’nyi kalendar’ profilakticheskikh privivok. (In Russ). Available online: https://base.garant.ru/70647158/53f89421bbdaf741eb2d1ecc4ddb4c33. Link active on 06.08.2020.

20. Jasperson K.W., Patel S.G., Ahnen D.J. APC-Associated Polyposis Conditions. GeneReviews Advanced Search. Last Update: February 2, 2017. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1345/#fap.Clinical_Characteristics.

21. Su L.K., Abdalla E.K., Law C.H., et al. Biallelic inactivation of the APC gene is associated with hepatocellular carcinoma in familial adenomatous polyposis coli. Cancer. 2001;92(2): 332–339. doi: 10.1002/1097-0142(20010715)92:23.0.CO;2-3.

22. Leggett B., Poplawski N., Pachter N., et al. Clinical practice guidelines for the prevention, early detection and management of colorectal cancer. Familial adenomatous polyposis (FAP). 2017. Available online: https://wiki.cancer.org.au/australia/Guidelines:Colorectal_cancer/Familial_adenomatous_polyposis.

23. Shneider B.L, Haque S., van Hoff J., et al. Familial adenoma tous polyposis following liver transplantation for a virilizing hepatoblastoma. Pediatr Gastroenterol Nutr. 1992;15(2):198–201. doi: 10.1097/00005176-199208000-00018.

24. Li F.P., Thurber W.A., Seddon J., Holmes G.E. Hepatoblastoma in families with polyposis coli. JAMA. 1987; 257(18): 2475–2477. doi: 10.1001/jama.1987.03390180093030.

25. Gruner B.A., DeNapoli T.S., Andrews W., et al. Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis. J Pediatr Hematol Oncol. 1998;20(3): 274–278. doi: 10.1097/00043426-199805000-00018.

26. Prakticheskiye reko men datsii Vsemirnoy Gastroenterologicheskoy Organizatsii. Gepa to tsellyulyarnaya kartsinoma (GTSK): globalnaya perspektiva. 2009. (In Russ). Available online: https://www.worldgastroenterology.org/UserFiles/file/guidelines/hepatocellular-carcinoma-russian-2009.pdf. Link active on 03.03.2020.