Genetic abnormalities in patients with multiple myeloma


Citar

Texto integral

Acesso aberto Acesso aberto
Acesso é fechado Acesso está concedido
Acesso é fechado Acesso é pago ou somente para assinantes

Resumo

IN PATIENTS WITH MULTIPLE MYELOMA, A NUMBER OF CYTOGENETIC ABNORMALITIES WITH PROGNOSTIC SIGNIFICANCE WERE REVEALED. IMPORTANT FACTORS FOR THE UNFAVORABLE PROGNOSIS IN MULTIPLE MYELOMA INCLUDE DEL 17P, T(4; 14), T( 14; 16), T(14; 20), DEL 1Q21, DEL 13. BRAF, KRAS, NRAS GENE MUTATIONS CHARACTERISTIC FOR DIFFERENT MALIGNANT NEOPLASMS ARE ALSO DETECTED IN PATIENTS WITH MULTIPLE MYELOMA. NEW SEQUENCING METHODS ALLOWED TO DETECT PREVIOUSLY UNKNOWN MUTATIONS OF SP140, ROB0O1, FAM46C AND EGR1 GENES IN PATIENTS WITH MULTIPLE MYELOMA. CRITICAL TO THE PATHOGENESIS AND PROGNOSIS OF MULTIPLE MYELOMA IS c-MYC, PAX and IRF-4 GENE OVEREXPRESSION. THE ACTIVATION OF THE EXPRESSION OF GENES ENCODING TUMOR-ASSOCIATED TESTIS-SPECIFIC ANTIGENS, INCLUDING PRAME, MAGE A1, MAGE A3, NY ES01, HAS THE PROGNOSTIC VALUE FOR MULTIPLE MYELOMA. THE IMMUNOGENICITY OF THESE ANTIGENS ALLOWS TO CONSIDER THEM AS A PROMISING TARGET FOR THE DEVELOPMENT OF IMMUNOTHERAPY FOR MULTIPLE MYELOMA.

Texto integral

Acesso é fechado

Sobre autores

E. Misyurina

SBHCI "City Clinical Hospital № 52" of the Moscow Healthcare Department

Email: misyurina_elena@mail.ru
PhD in Medical Science, Head of the Hematological Service

A. Misyurin

FSB I "N.N. Blokhin NMRC of Oncology" of RMH

PhD in Biological Sciences, Head of the Laboratory of Recombinant Tumor Antigens

Bibliografia

  1. Anderson К.С. Pathogenesis of myeloma. Аппи. Rev. Pathol. 2011; 6: 249-274.
  2. Druker B.J., Tamura S., Buchdunger E. Multiple myeloma: evolving genetic events and host interactions. Nat. Rev. Cancer. 2002; 2(3): 175-187.
  3. Kosmas C., Stamatopoulos K., Papadaki T, Belessi C., Yataganas X., Anagnostou D., Loukopoulos D. Somatic hypermutation of immunoglobulin variable region genes: focus on follicular lymphoma and multiple myeloma. Immunol. Rev. 1998; 162: 281-292.
  4. Weiss B.M., Abadie J., Verma P A monoclonal gammopathy precedes multiple myeloma in most patients. Blood. 2009; 113(22): 5418-5422.
  5. Kyle R.A., Durie B.C., Rajkumar S., Landgren O., Blade J., Merlini G., Kröger N., Einsele H., Vesole D.H., Dimopoulos M., San Miguel J., Avet-Loiseau H., Hajek R., Chen W.M., Anderson K.C., Ludwig H., Sonneveld P., Pavlovsky S., Palumbo A., Richardson P.G., Barlogie B., Greipp P, Vescio R., Turesson I., Westin J., Boccadoro M. Monoclonal gammopathy of undetermined significance (MGUS) and smoldering (asymptomatic) multiple myeloma: IMWG consensus perspectives risk factors for progression and guidelines for monitoring and management. Leukemia. 2010; 24(6): 1121-1127.
  6. Gertz M.A., Lacy M.Q., Dispenzieri A., Greipp PR., Litzow M.R., Henderson K.J., Van Wier S.A., Ahmann G.J., Fonseca R. Clinical implications of t(ll; 14)(ql3; q32), t(4; 14)(pl6.3; q32), and -17pl3 in myeloma patients treated with high-dose therapy. Blood. 2005; 106(8): 2837-2840. doi: 10.1182/blood-2005-04-1411.
  7. Gutiérrez N. C., Castellanos M. V, Martin M.L., Mateos M. V, Hernández J.M., Fernández M., Carrera D., Rosinol L., Ribera J.M., Ojanguren J.M., Palomera L., Gardella S., Escoda L., Hernández-Boluda J.C., Bello J.L., de la Rubia J., Lahuerta J.J., San Miguel J.F. Prognostic and biological implications of genetic abnormalities in multiple myeloma undergoing autologous stem cell transplantation: t(4; 14) is the most relevant adverse prognostic factor, whereas RB deletion as a unique abnormality is not associated with adverse prognosis. Leukemia. 2007; 21(1): 143-150. doi: 10.1038/sj.leu.2404413.
  8. Ross F.M., Chiecchio L., Dagrada G., Protheroe R.K., Stockley D.M., Harrison C.J., Cross N.C., Szubert A.J., Drayson M.T., Morgan G.J. The t(14; 20) is a poor prognostic factor in myeloma but is associated with longterm stable disease in monoclonal gammopathies of undetermined significance. Haematologica. 2010; 95(7): 1221-1225. doi: 10.3324/haematol.2009.016329.
  9. Ross F.M., Avet-Loiseau H., Ameye G., Gutiérrez N.C., Liebisch P, O’Connor S., Dalva K., Fabris S., Testi A.M., Jarosova M., Hodkinson C., Collin A., Kerndrup G., Kuglik P, Ladon D., Bernasconi P, Maes B., Zemanova Z., Michalova K., Michau L., Neben K., Hermansen N.E., Rack K., Rocci A.,Protheroe R., Chiecchio L., Poirel H.A., Sonneveld P, Nyegaard M., Johnsen H.E. Report from the European Myeloma Network on interphase FISH inmultiple myeloma and related disorders. Haematologica. 201; 97(8): 1272-1277. doi: 10.3324/haematol.2011.056176.
  10. Hanamura I., Stewart J.P., Huang Y., Zhan F., Santra M., Sawyer J.R., Hollmig K., Zangarri M., Pineda-Roman M., van Rhee F., Cavallo F., Burington B., Crowley J., Tricot G., Barlogie B., Shaughnessy J.D. Jr. Frequent gain of chromosome band lq21 in plasma-cell dyscrasias detected by fluorescence in situ hybridization: incidence increases from MGUS to relapsed myeloma and is related to prognosis and disease progression following tandem stem-cell transplantation. Blood. 2006; 108(5): 1724- 1732.
  11. Rosinol L., Carrio A., Bladé J., Queralt R., Aymerich M., Cibeira M.T., Esteve J., Rozman M., Campo E., Montserrat E. Comparative genomic hybridisation identifies two variants of smoldering multiple myeloma. Br. J. Haematol. 2005; 130(5): 729-732. Doi: 10.HH/J.1365-2141.2005.05673.x.
  12. Sonneveld P., Avet-LoiseauH., Lonial S., Usmani S., Siegel D., Anderson K.C., Chng W.J., Moreau P., Attal M., Kyle R.A., Caers J., Hillengass J., San Miguel J.,vandeDonk N.W, Einsele H, Bladé J., Durie B.G., Goldschmidt H., Mateos M.V., Palumbo A., Orlowski R. Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group. Blood. 2016; 127(24/2955-2962. doi: 10.1182/blood-2016-01-631200
  13. Scheid C., Sonneveld P., Schmidt-Wolf LG., van der Holt В., el Jarari L., Bertsch U, Salwender H., Zweegman S., Blau I.W, Vellenga E., Weisel K., Pfreundschuh M., Jie KS., Neben K., van de Velde H., Duehrsen U, Schaafsma M.R., Lindemann W, Kersten M.J., Peter N., Hänel M., Croockewit S., Martin H., Witteboi S., Bos G.M., van Marwijk-Kooy M., Wijermans P, Goldschmidt H. Bortezomib before and after autologous stem cell transplantation overcomes the negative prognostic impact of renal impairment in newly gnosed multiple myeloma: a subgroup analysis from the HOVON-65/ GMMG-HD4 trial. Haematologica. 2014; 99: 148-154.
  14. Lionetti M., Barbieri M., Todoerti K, Agnelli L., Marzorati S., Fabris S., Ciceri G., Galletti S., Milesi G., Manzoni M., Mazzoni M., Greco A., Tonon G., Musto P., Baldini L., Neri A. Molecular spectrum of BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias: implication for MEK-ERK pathway activation. Oncotarget. 2015; 6(27): 24205-24217. doi: 10.18632/oncotarget.4434.
  15. Szabo A.G., Gang A.O., Pedersen M.Ø., Poulsen T.S., Klausen TW., Norgaard P. Overexpression of с-my с is associated with adverse clinical features and worse overall survival in multiple myeloma. Leuk. Lymphoma. 2016; 57(11): 2526- 2534. doi: 10.1080/10428194.2016.1187275.
  16. Ramakrishnan V., Kumar S. РІЗК/AKT/mTOR pathway in multiple myeloma: from basic biology to clinical promise. Leuk. Lymphoma. 2018; 11: 1-11. doi: 10.1080/10428194.2017.1421760.
  17. Tessoulin B., Eveillard M., Lok A., Chiron D., Moreau P, Amiot M., Moreau-Aubry A., Le Gouill S., Pellat-Deceunynck C. p53 dysregulation in B-cell malignancies: More than a single gene in the pathway to hell. Blood Rev. 2017; 31(4): 251-259. doi: 10.1016/j.blre.2017.03.001.
  18. Chavan S.S., He J., Tytarenko R., Deshpande S., Patel P, Bailey M., Stein C.K., Stephens O., Weinhold N., Petty N., Steward D., Rasche L., Bauer M., Ashby C., Peterson E., Ali S., Ross J., Miller V.A., Stephens P, Thanendrarajan S., Schinke C., Zangari M., van Rhee F, Barlogie B., Mughal T.I., Davies F.E., Morgan G.J., Walker B.A. Bi-allelic inactivation is more prevalent at relapse in multiple myeloma, identifying RBI as an independent prognostic marker. Blood Cancer J. 2017; 7(2): e535. Doi: 10.1038/ bcj.2017.12.
  19. Bolli N., Avet-Loiseau H., Wedge D.C. Heterogeneity of genomic evolution and mutational profiles in multiple myeloma. Nat. Commun. 2014; 5(2997): 1-17.
  20. Cobaleda C., Schebesta A., Delogu A., Busslinger M. Pax5: the guardian of В cell identity and function. Nat. Immunol. 2007; 8(5): 463-470.
  21. Shaffer A.L., Emre N.C., Lamy L., Ngo VN., Wright G., Xiao W, Powell J., Dave S., Yu X., Zhao H., Zeng Y., Chen B., Epstein J., Staudt L.M. IRF4 addiction in multiple myeloma. Nature. 2008; 454(7201): 226-231.
  22. Kortiüm K.M., Langer C., Monge J., et al. Longitudinal analysis of 25 sequential sample-pairs using a custom multiple myeloma mutation sequencing panel (M(3P). Ann. Hematol. 2015; 94(7): 1205-1211. doi: 10.1007/s00277-015-2344-9.
  23. Chapman M.A., Lawrence M.S., Keats J.J., Cibulskis K, Sougnez C., Schinzel A.C., Harview C. L., Brunet J.P., Ahmann G.J., Adli M., Anderson K.C., Ardlie K.G., Auclair D., Baker A., Bergsagel P.L., Bernstein B.E., Drier Y, Fonseca R., Gabriel S.B., Hofmeister C.C., Jagannath S., Jakubowiak A.J., et al. Initial genome sequencing and analysis of multiple myeloma. Nature. 2011; 471(7339): 467-472.
  24. Pichiorri F., Suh S.S., Ladetto M., Kuehl M., Palumbo T., Drandi D., Taccioli C., Zanesi N., Alder H., Hagan J.P., Munker R., Volinia S., Boccadoro M., Garzon R., Palumbo A., Aqeilan R.I., Croce C.M. MicroRNAs regulate critical genes associated with multiple myeloma pathogenesis. Proc. Natl. Acad. Sсi. USA. 2008; 105(35): 12885-12890.
  25. Condomines М., Hose D., Raynaud Р., Hundemer М., De Vos J., Baudard M., Moehler T, Pantesco V, Moos M., Schved J.F., Rossi J.F., Rème T, Goldschmidt H., Klein В. Cancer/testis genes in multiple myeloma: expression patterns and prognosis value determined by microarray analysis. J. Immunol. 2007; 178: 3307-3315.
  26. Lim S.H., Wang Z.Q., Chiriva-Internati M., Xue Y. Sperm protein 17 is a novel cancer-testis antigen in multiple myeloma. Blood. 2001; 978: 1508-1510.
  27. Pellat-Deceunynck C., Mellerin M.-P, Labarriere N., Jego G., Moreau-Aubry A., Harousseau J.L., Jotereau F, Bataille R. The cancer germ-line genes MAGE-1, MAGE-3 and PRAME are commonly expressed by human myeloma cells. Eur. J. Immunol. 2000; 30: 803-809.
  28. Абраменко И.В., Белоус Н.И., Мисюрин A.B. Экспрессия гена PRAME при миеломной болезни. Терапевтический архив. 2004; 7: 35- 40.
  29. Гапонова T.B., Менделеева Л.П., Мисюрин A.B., Варламова Е.В., Савченко В.Т. Экспрессия опухолеассоциированных генов PRAME, WT1 и XIAP у больных множественной миеломой. Онкогематология. 2009; 2: 52-57.
  30. Ghafouri-Fard S., Seifi-Alan M., Shamsi R., Esfandiary A. Immunotherapy in Multiple Myeloma Using Cancer-Testis Antigens. Iran. J. Cancer. PreVol. 2015; 8(5): e3755: 1-10.

Arquivos suplementares

Arquivos suplementares
Ação
1. JATS XML

Este site utiliza cookies

Ao continuar usando nosso site, você concorda com o procedimento de cookies que mantêm o site funcionando normalmente.

Informação sobre cookies