The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
Abstract
Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational-analysis studies could demonstrate that deficiency of the canalicular bile acid transporter bile salt export pump (BSEP) and mutation in ABCB11 , encoding BSEP, underlay progressive familial intrahepatic cholestasis (PFIC)—or “neonatal hepatitis” suggesting PFIC—that was associated with HCC in young children. We studied 11 cases of pediatric HCC in the setting of PFIC or “neonatal hepatitis” suggesting PFIC. Archival liver were retrieved and immunostained for BSEP. Mutational analysis of ABCB11 was performed in leukocyte DNA from available patients and parents. Among the 11 nonrelated children studied aged 13-52 months at diagnosis of HCC, 9 (and a full sibling, with neonatal hepatitis suggesting PFIC, of a tenth from whom liver was not available) had immunohistochemical evidence of BSEP deficiency; the eleventh child did not. Mutations in ABCB11 were demonstrated in all patients with BSEP deficiency in whom leukocyte DNA could be studied (n = 7). These mutations were confirmed in the parents (n = 14). With respect to the other 3 children with BSEP deficiency, mutations in ABCB11 were demonstrated in all 5 parents in whom leukocyte DNA could be studied. Thirteen different mutations were found. In conclusion , PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children. Immunohistochemical evidence of BSEP deficiency correlates well with demonstrable mutation in ABCB11 .
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Strautnieks, S. S., Bull, L. N., Knisely, A. S., Kocoshis, S. A., Dahl, N., Arnell, H., Sokal, E., Dahan, K., Childs, S., Ling, V., et al. (1998) · Nature Genetics · doi:10.1038/3034 · Cited by 995
Self-citationA gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
Bull, L. N., van Eijk, M. J. T., Pawlikowska, L., DeYoung, J. A., Juijn, J. A., Liao, M., Klomp, L. W. J., Lomri, N., Berger, R., Scharschmidt, B. R., et al. (1998) · Nature Genetics · doi:10.1038/ng0398-219 · Cited by 736
Self-citationBile acids as carcinogens in human gastrointestinal cancers
Bernstein, H., Bernstein, C., Payne, C. M., Dvorakova, K., & Garewal, H. (2005) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2004.08.001 · Cited by 611
Jansen, P. L. M., Strautnieks, S. S., Jacquemin, E., Hadchouel, M., Sokal, E. M., Hooiveld, G. J. E. J., Koning, J. H., de Jager-Krikken, A., Kuipers, F., Stellaard, F., et al. (1999) · Gastroenterology · doi:10.1016/s0016-5085(99)70287-8 · Cited by 433
Self-citationBenign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
van Mil, S. W. C., van der Woerd, W. L., van der Brugge, G., Sturm, E., Jansen, P. L. M., Bull, L. N., van den Berg, I. E. T., Berger, R., Houwen, R. H. J., & Klomp, L. W. J. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.04.065 · Cited by 345
Self-citationByrne, J. A., Strautnieks, S. S., Mieli–Vergani, G., Higgins, C. F., Linton, K. J., & Thompson, R. J. (2002) · Gastroenterology · doi:10.1053/gast.2002.36591 · Cited by 337
Self-citationCharacterization of mutations in ATP8B1 associated with hereditary cholestasis
Klomp, L. W. J., Vargas, J. C., van Mil, S. W. C., Pawlikowska, L., Strautnieks, S. S., van Eijk, M. J. T., Juijn, J. A., Pabón-Peña, C., Smith, L. B., DeYoung, J. A., et al. (2004) · Hepatology · doi:10.1002/hep.20285 · Cited by 294
Self-citationThe occurrence of hepatoma in the chronic form of hereditary tyrosinemia
Weinberg, A. G., Mize, C. E., & Worthen, H. G. (1976) · The Journal of Pediatrics · doi:10.1016/s0022-3476(76)80259-4 · Cited by 283
Bull, L. N., Carlton, V. E., Stricker, N. L., Baharloo, S., DeYoung, J. A., Freimer, N. B., Magid, M. S., Kahn, E., Markowitz, J., DiCarlo, F. J., et al. (1997) · Hepatology · doi:10.1002/hep.510260121 · Cited by 276
Self-citationWhitington, P. F., & Whitington, G. L. (1988) · Gastroenterology · doi:10.1016/0016-5085(88)90301-0 · Cited by 270
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The Curious Case of the HepG2 Cell Line: 40 Years of Expertise
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Metadata
- Authors
- Knisely, A. S., Strautnieks, S. S., Meier, Y., Stieger, B., Byrne, J. A., Portmann, B. C., Bull, L. N., Pawlikowska, L., Bilezikçi, B., Özçay, F., László, A., Tiszlavicz, L., Moore, L., Raftos, J., Arnell, H., Fischler, B., Németh, A., Papadogiannakis, N., Cielecka-Kuszyk, J., Jankowska, I., Pawłowska, J., Melín-Aldana, H., Emerick, K. M., Whitington, P. F., Mieli-Vergani, G., & Thompson, R. J.
- Venue
- Hepatology
- Published
- 2006-08
- Volume
- 44
- Issue
- 2
- Pages
- 478-486
- ISSN
- 0270-9139 (ISSN-L)
- OpenAlex
- W1971139086
- Cited by
- 379
- References
- 32
- FWCI
- 9.61
- Type
- journal article
- Language
- en
- Open access
- closed
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- Knisely, A. S., Strautnieks, S. S., Meier, Y., Stieger, B., Byrne, J. A., Portmann, B. C., Bull, L. N., Pawlikowska, L., Bilezikçi, B., Özçay, F., László, A., Tiszlavicz, L., Moore, L., Raftos, J., Arnell, H., Fischler, B., Németh, A., Papadogiannakis, N., Cielecka-Kuszyk, J., . . . Thompson, R. J. (2006). Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. https://doi.org/10.1002/hep.21287
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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