摘要
Злокачественные опухоли нередко встречаются у пациентов с наследственными дефектами иммунитета и являются одной из главных причин смерти таких больных. Повышенный риск развития новообразований, по-видимому, объясняется ослаблением противоопухолевого надзора и уязвимостью в отношении онкогенных вирусов. Наличие первичного иммунодефицита (ПНД) у пациента с онкологическим заболеванием может повлиять на тактику лечения. Расширение возможностей терапии ПНД диктует необходимость своевременной дифференциальной диагностики наследственных иммунодефицитов.
参考
Auerbach A.D. Fanconi anemia and its diagnosis // Mutat Res. - 2009. - Vol. 668(1-2). - P 4-10.
Bernstein J.L., Teraoka S., Southey M.C. et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry // Hum Mutat. - 2006. - Vol. 27(11). - P. 1122-1128.
Bogdanova N., Feshchenko S., Schrmann P. et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer // Int. J. Cancer. - 2008. - Vol. 122 (4). - P. 802-806.
Bretsky P., Haiman C.A., Gilad S. et al. The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort // Cancer Epidemiol Biomarkers Prev. - 2003. - Vol. 12(8). - P. 733-738.
Buslov K.G., lyevleva A.G., Chekmariova E.V. et al. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia // Int. J. Cancer. - 2005. - Vol. 114 (4). - P. 585-589.
Boyle J.M., Buckley R.H. Population prevalence of diag nosed primary immunodeficiency diseases in the United States // J. Clin. Immunol. - 2007. - Vol. 27(5). - P. 497502.
Ciara E., Piekutowska-Abramczuk D., Popowska E. et al. Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients // Acta Neuropathol. - 2010. - Vol. 119 (3). - P. 325-334.
Cohen J.M., Sebire N.J., Harvey J. et al. Successful treatment of lymphoproliferative disease complicating primary immunodeficiency/immunodysregulatory disorders with reduced-intensity allogeneic stem-cell transplantation // Blood. - 2007. - Vol. 110 (6). - P. 2209-2214.
Concannon P., Haile R.W., Brresen-Dale A.L. et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer // Cancer Res. - 2008. -Vol. 68 (16). - P. 6486-6491.
Corthay A. Does the immune system naturally protect against cancer? // Front. Immunol. - 2014. - Vol. 5. - P. 197.
Costa-Carvalho B.T, Grumach A.S., Franco J.L. et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice // J. Clin. Immunol. - 2014. - Vol. 34(1). - P. 10-22. - 10.1007/ s10875-013-9954-6. DOI: 10.1007/s10875-013-9954-6
Cybulski C., G rski B., Debniak T. et al. NBS1 is a prostate cancer susceptibility gene // Cancer Res. - 2004. - Vol. 64 (4). - P. 1215-1219.
de Miranda N.F., Bjrkman A., Pan-Hammarstr m Q. DNA repair: the link between primary immunodeficiency and cancer // Ann N Y Acad. Sci. - 2011. - Vol. 1246. - P. 50-63.
Dunn G.P., Koebel C.M., Schreiber R.D. Interferons, immunity and cancer immunoediting // Nat. Rev. Immunol. - 2006. - Vol. 6 (11). - P. 836-848.
DuPage M., Mazumdar C., Schmidt L.M., Cheung A.F., Jacks T. Expression of tumour-specific antigens underlies cancer immunoediting // Nature. - 2012. - Vol. 482 (7385). - P. 405-409.
Emens L.A., Ascierto P.A., Darcy P.K. et al. Cancer immunotherapy: Opportunities and challenges in the rapidly evolving clinical landscape // Eur. J. Cancer. -2017. - Vol. 81. - P. 116-129.
Garraway L.A., Lander E.S. Lessons from the cancer genome // Cell. - 2013. - Vol. 153(1). - P. 17-37.
Garg A.D., Agostinis P. Cell death and immunity in cancer: From danger signals to mimicry of pathogen defense responses // Immunol Rev. - 2017. - Vol. 280 (1). - P. 126-148.
Gorski B., Debniak T., Masojc B. et al. Germline 657del5 mutation in the NBS1 gene in breast cancer patients // Int. J. Cancer. - 2003. - Vol. 106 (3). - P. 379-381.
Guerra N., Tan YЮX., Joncker N.T. et al. NKG2D-deficient mice are defective in tumor surveillance in models of spontaneous malignancy // Immunity. - 2008. - Vol. 28 (4). - P. 571-580.
Hanahan D., Weinberg R.A. Hallmarks of cancer: the next generation // Cell. - 2011. - Vol. 144 (5). - P. 646-674.
Hauck F., Voss R., Urban C., Seidel M.G. Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders // J. Allergy Clin. Immunol. - 2017. - pii: S0091-6749(17)31027-8.
Heintz N. Ataxia telangiectasia: cell signaling, cell death and the cell cycle // Curr. Opin. Neurol. -1996. - Vol. 9 (2). - P. 137-140.
Jacobs J.F., Nierkens S., Figdor C.G., de Vries I.J., Adema G.J. Regulatory T cells in melanoma: the final hurdle towards effective immunotherapy? // Lancet Oncol. - 2012. - Vol. 13 (1). - P. e32-42.
Jonkman-Berk B.M., van den Berg J.M., Ten Berge I.J. et al. Primary immunodeficiencies in the Netherlands: national patient data demonstrate the increased risk of malignancy // Clin. Immunol. - 2015. - Vol. 156 (2). - P. 154-162.
Kroft S.H., Finn W.G., Singleton T.P. et al. Follicular large cell lymphoma with immunoblastic features in a child with Wiskott-Aldrich syndrome: an unusual immunodeficiency-related neoplasm not associated with Epstein-Barr virus // Am. J. Clin. Pathol. - 1998. - Vol. 110 (1). - P. 95-99.
Lakin N.D., Weber P., Stankovic T. et al. Analysis of the ATM protein in wild-type and ataxia telangiectasia cells // Oncogene. - 1996. - Vol.13 (12). - P. 2707-2716.
Martin D., Gutkind J.S. Human tumor-associated viruses and new insights into the molecular mechanisms of cancer // Oncogene. - 2008. - Vol. 27 (Suppl 2). - P. S31-42. - DOI: 10.1038/onc.2009.351
Matsushita H., Vesely M.D., Koboldt D.C. et al. Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting // Nature. - 2012. - Vol. 482 (7385). - P. 400-404. - DOI: 10.1038/nature10755
Mayor P.C., Eng K.H., Singel K.L. et al. Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry // J. Allergy Clin. Immunol. - 2017. - pii: S0091-6749(17)30925-9.
Meister M.T, Voss S., Schwabe D. Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotinand reduced COPP plus rituximab // Pediatr. Blood Cancer. - 2015. - Vol. 62 (11). - P. 2018-2020.
Mittal D., Gubin M.M., Schreiber R.D., Smyth M.J. New insights into cancer immunoediting and its three component phases-elimination, equilibrium and escape // Curr. Opin. Immunol. - 2014. - Vol. 27. - P. 16-25.
Mortaz E., Tabarsi P., Mansouri D. et al. Cancers Related to Immunodeficiencies: Update and Perspectives // Front Immunol. - 2016. - Vol. 7. - P. 365.
Mueller B.U., Pizzo P.A. Malignancies in pediatric AIDS // Curr. Opin. Pediatr. - 1996. - Vol. 8 (1). - P. 45-49.
Nicholaou T., Chen W., Davis I.D. et al. Immunoediting and persistence of antigen-specific immunity in patients who have previously been vaccinated with NY-ESO-1 protein formulated in ISCOMATRIX™ // Cancer Immunol. Immunother. - 2011. - Vol. 60 (11). - P. 1625-1637.
Notarangelo L.D. PIDs and cancer: an evolving story // Blood. - 2010. - Vol. 116 (8). - P. 1189-1190.
Palendira U., Rickinson A.B. Primary immunodeficiencies and the control of Epstein-Barr virus infection // Ann N Y Acad. Sci. - 2015. - Vol. 1356. - P 22-44.
Pastorczak A., Szczepanski T., Mlynarski W. International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome // Eur. J. Med. Genet. - 2016. - Vol. 59 (3). - P 126-132.
Prokofyeva D., Bogdanova N., Dubrowinskaja N. et al. Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations // Breast Cancer Res Treat. - 2013. -Vol. 137 (2). - P 533-539.
Rahman N., Scott R.H. Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players// Hum Mol. Genet. - 2007. - Vol. 16. - R60-66.
Renwick A., Thompson D., Seal S. et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles // Nat. Genet. - 2006. - Vol. 38(8). - P. 873-875.
Resnick I.B., Kondratenko I., Togoev O. et al. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families // J. Pediatr. - 2002. - Vol. 140 (3). - P 355-361.
Rezaei N., Hedayat M., Aghamohammadi A., Nichols K.E. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies // J. Allergy Clin. Immunol. - 2011. - Vol. 127 (6). - P. 1329-1341.
Salavoura K., Kolialexi A., Tsangaris G., Mavrou A. Development of cancer in patients with primary immunodeficiencies // Anticancer Res. - 2008. - Vol. 28(2B). - P. 1263-1269.
Sandoval C., Swift M. Hodgkin disease in ataxia-telangiectasia patients with poor outcomes // Med. Pediatr. Oncol - 2003. - Vol. 40. - P. 162-166.
Schreiber R.D., Old L.J., Smyth M.J. Cancer immunoediting: integrating immunity's roles in cancer suppression and promotion // Science. - 2011. - Vol. 331 (6024). - P. 1565-1570.
Seemanova E., Varon R., Vejvalka J. et al. The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? // PLoS One. - 2016. - Vol. 11 (12). - e0167984.
Shapiro R.S. Malignancies in the setting of primary immunodeficiency: Implications for hematologists/ oncologists // Am J. Hematol. - 2011. - Vol. 86 (1). - P 48-55.
Slack J., Albert M.H., Balashov D. et al. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders // J. Allergy Clin. Immunol. - 2017. - pii: S0091-6749(17)30567-5.
Sokolenko A.P, Iyevleva A.G., Preobrazhenskaya E.V. et al. High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia // Int. J. Cancer. - 2012. - Vol. 130 (12). - P 2867-2873.
Steffen J., Varon R., Mosor M. et al. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland // Int. J. Cancer. - 2004. - Vol. 111 (1). - P 67-71.
Suarez F., Mahlaoui N., Canioni D. et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French national registry of primary immune deficiencies // J. Clin. Oncol - 2015. - Vol. 33. - P. 202-208.
Suspitsin E.N., Sibgatullina F.I., Lyazina L.V., Imyanitov E.N. First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis // Mol. Syndromol. - 2017. - Vol. 8 (2). - P. 103-106.
Tavtigian S.V., Oefner P.J., Babikyan D. et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer // Am J. Hum. Genet. - 2009. - Vol. 85 (4). - P. 427-446.
Taylor A.M., Metcalfe J.A., Thick J., Mak YF. Leukemia and lymphoma in ataxia telangiectasia // Blood. - 1996. - Vol. 87 (2). - P. 423-438.
Thrasher A.J., Williams D.A. Evolving Gene Therapy in Primary Immunodeficiency // Mol. Ther. - 2017. - Vol. 25 (5). - P. 1132-1141.
Tran H., Nourse J., Hall S. et al. Immunodeficiency-associated lymphomas // Blood Rev. - 2008. - Vol. 22 (5). - P. 261-281.
Vajdic C.M., Mao L., van Leeuwen M.T. et al. Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? // Blood. - 2010. -Vol. 116 (8). - P. 1228-1234.
van der Werff Ten Bosch J., van den Akker M. Genetic predisposition and hematopoietic malignancies in children: Primary immunodeficiency // Eur. J. Med. Genet. - 2016. - Vol. 59 (12). - P. 647-653.
van Os N.J., Roeleveld N., Weemaes C.M. et al. Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline // Clin. Genet. - 2016. - Vol. 90 (2). - P. 105
Varon R., Seemanova E., Chrzanowska K. et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations // Eur. J. Hum Genet. - 2000. - Vol. 8 (11). - P 900-902.
von Boehmer L., Mattle M., Bode P et al. NY-ESO-1-specific immunological pressure and escape in a patient with metastatic melanoma // Cancer Immun. - 2013. -Vol. 13. - P. 12.
Walsh M.F., Chang V.Y., Kohlmann W.K. et al. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders // Clin. Cancer Res. - 2017. - Vol. 23 (11). - e23-e31.
Wolska-Kunierz B., Gregorek H., Chrzanowska K. et al. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis // J. Clin. Immunol. - 2015. -Vol. 35 (6). - P. 538-549.
Woodbine L., Gennery A.R., Jeggo P.A. The clinical impact of deficiency in DNA non-homologous end-joining // DNA Repair (Amst). - 2014. - Vol. 16. - P 84-96.
Wu L., Hickson I.D. The Bloom's syndrome helicase suppresses crossing over during homologous recombination // Nature. - 2003. - Vol. 426 (6968). - P. 870-874.
Wykes M.N., Lewin S.R. Immune checkpoint blockade in infectious diseases // Nat. Rev. Immunol. - 2017. - DOI: 10.1038/nri.2017.112
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
© АННМО «Вопросы онкологии», Copyright (c) 2020