Značaj citogenetički rizičnih kategorija i prerađenog Međunarodnog prognoznog sistema za procenu ukupnog preživljavanja u primarnoj mijelofibrozi: iskustvo jednog centra

  • Vesna Djordjević Clinical Center of Serbia, Clinic of Hematology
  • Marija Denčić-Fekete Clinical Center of Serbia, Clinic of Hematology
  • Jelica Jovanović Clinical Center of Serbia, Clinic of Hematology
  • Ivan Soldatović University of Belgrade, Faculty of Medicine, Institute for Medical Statistics and Informatics
  • Gradimir Janković Clinical Center of Serbia, Clinic of Hematology
  • Andrija Bogdanović Clinical Center of Serbia, Clinic of Hematology
DOI: https://doi.org/10.2298/VSP171129117D
Ključne reči: hromosomi, aberacije;, citogenetika;, mijelofibroza, primarna;, prognoza

Sažetak


Uvod/Cilj. Primarna mijelofibroza (PMF) je hronična, ma­ligna hematološka bolest koja se karakteriše leukoeritro­blastnom krvnom slikom, anizopoikilocitozom eritrocita u obliku suze, različitim stepenom fibroze kostne srži i hepa­tosplenomegalijom usled ekstramedularne hematopoeze. Od genetičkih specifičnosti bolesti, ističu se hromozomske abe­racije u patološkim, mijeloidnim ćelijama krvi. Cilj rada bio je da se ispita prognostički značaj kliničkih, hemato­loš­kih i citogenetičkih parametara u PMF. Metode. Retrospek­tivnom studijom su bila obuhvaćena 144 bolesnika sa PMF. Analiza kariotipa vršena je konvencionalnom citogene­tičkom meto­dom. Rezultati. Hromozomska analiza je bila uspešna kod 126 (88%) bolesnika, a neuspešna kod ostalih bolesnika (12%). Aberantan kariotip je bio registrovan kod 36/126 (29%) ispitanika na prezentaciji. Najčešće aberacije bile su: +9, 13q- i 20q- (28%). Druge abnormalnosti bile su: aberacije hromo­zoma 18 i 16, delecije (9q-, 12p-,7q-, 5q-, 6q-, 8q-), trizomije (+1q, +8, +10, +21), monozomije (-7, -11), inverzija 3q i gubitak Y hromozoma. Otkrili smo i četri nove balansirane translokacije u PMF: t(17;22)(q11;q13), t(15;17)(q22;q25), t(9;12)(q22;q24) i t(2;4)(q21;p16), jednu konstitucionu trans­lokaciju ˗ rob(13;14)(q10;q10) i neke nove anomalije kariotipa ˗ delecija oba, homologa hromo­zo­ma, hiperdiploidiju i koegzi­stenciju nepovezanih patoloških klonova. Zaključak. Prema citogenetički prerađenom Me­đunarodnom prognoznom sis­temu hromozomske aberacije su statistički značajno (p = 0.004) uticale na ukupno preživ­ljavanje bolesnika sa PMF. Kod naših bolesnika nađene su hromozomske aberacije uobičajne za PMF, ali su registro­vane i nove balansirane translokacije, kao i druge, retke kariotipske anomalije.

Reference

Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organi-zation criteria and point-of-care diagnostic algorithms. Leu-kemia 2008; 22(1): 14‒22.

Barosi G, Mesa RA, Thiele J, Cervantes F, Campbell PJ, Ver-stovsek S, et al. Proposed criteria for the diagnosis of post- pol-ycythemia vera and post-essential thrombocythemia myelofi-brosis: a consensus statement from International Working Group for myelofibrosis research and treatment. Leukemia 2008; 22(2): 437‒8.

Dupriez B, Morel P, Demory JL, Lai JL, Simon M, Plantier I, et al. Prognostic factors in agnogenic myeloid metaplasia: a re-port on 195 cases with a new scoring system. Blood 1996; 88(3): 1013‒8.

Cervantes F, Pereira A, Esteve J, Rafel M, Cobo F, Rozman C, et al. Identification of ‘short-lived’ and ‘long-lived’ patients at presentation of idiopathic myelofibrosis. Br J Haematol 1997; 97(3): 635‒40.

Djordjevic V, Dencic-Fekete M, Jovanovic J, Bizic S, Jankovic G, Bogdanovic A, et al. Cytogenetics of agnogenic myeloid meta-plasia: a study of 61 patients. Cancer Genet Cytogenet 2007; 173(1): 57‒62.

Reilly JT, Snowden JA, Spearing RL, Fitzgerald PM, Jones N, Watmore A, et al. Cytogenetic abnormalities and their prog-nostic significance in idiopathic myelofibrosis: a study of 106 cases. Br J Haematol 1997; 98(1): 96‒102.

Tefferi A, Dingli D, Li CY, Dewald GW. Prognostic diversity among cytogenetic abnormalities in myelofibrosis with mye-loid metaplasia. Cancer 2005; 104(8): 1656‒60.

Hussein K, Pardanani AD, Van Dyke DL, Hanson CA, Tefferi A. International Prognostic Scoring System-independent cytoge-netic risk categorization in primary myelofibrosis. Blood 2010; 115(3): 496‒9.

Caramazza D, Begna KH, GangatN, Vaidya R, Siragusa S, Van Dyke DL, et al. Refined cytogenetic-risk categorization for overall and leukemia-free survival in primary myelofibrosis: a single center study of 433 patients. Leukemia 2011; 25(1): 82‒8.

Cervantes F, Dupriez B, Pereira A, Passamonti F, Reilly JT, Morra E, et al. New prognostic scoring system for primary myelofi-brosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 2009; 113(13): 2895‒901.

Passamonti F, Cervantes F, Vannucchi AM, Morra E, Rumi E, Pe-reira A, et al. A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (Interna-tional Working Group for Myeloproliferative Neoplasms Re-search and Treatment). Blood 2010; 115(9): 1703‒8.

Tefferi A, Huang J, Schwager S, Li CY, Wu W, Pardanani A, et al. Validation and comparison of contemporary prognostic models in primary myelofibrosis: analysis based on 334 pa-tients from a single institution. Cancer 2007; 109(10): 2083‒8.

Elliott MA, Verstovsek S, Dingli D, Schwager SM, Mesa RA, Li CY, et al. Monocytosis is an adverse prognostic factor for sur-vival in younger patients with primary myelofibrosis. Leuk Res 2007; 31(11): 1503‒9.

Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002; 100(7): 2292‒302.

Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organ-ization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009; 114(5): 937–51.

Novak A, Kruškić M, Ludoški M, Jurukovski V. Rapid method for obtaining high-quality chromosome banding in the study of hematopoietic neoplasia. Cancer Genet Cytogenet 1994; 74(2): 109‒14.

Shaffer LG, McGowan-Jordan J, Schmid M. ISCN (2013): An In-ternational System for Human Cytogenetic Nomenclature. Ba-sel, Switzerland: S. Karger; 2013.

Tefferi A, Mesa RA, Schroeder G, Hanson CA, Li CY, Dewald GW. Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia. Br J Haematol 2001; 113(3): 763‒71.

Dingli D, Grand FH, Mahaffey V, Spurbeck J, Ross FM, Watmore AE, et al. Der(6)t(1;6)(q21-23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia. Br J Haematol 2005; 130(2): 229‒32.

Wassie E, Finke C, Gangat N, Lasho TL, Pardanani A, Hanson CA, et al. A compendium of cytogenetic abnormalities in myelofibrosis: molecular and phenotypic correlates in 826 pa-tients. Br J Haematol 2015; 169(1): 71‒6.

Hussein K, Van Dyke DL, Tefferi A. Conventional cytogenetics in myelofibrosis: literature review and discussion. Eur J Hae-matol 2009; 82(5): 329‒38.

Djordjević V, Dencić-Fekete M, Jovanović J, Drakulić D, Stevanović M, Janković G, et al. Pattern of trisomy 1q in hematological malignancies: a single institution experience. Cancer Genet Cytogenet 2008; 186(1): 12‒8.

Vardiman JW, Brunning RD, Arber DA, Le Beau MM, Porwit A, Tefferi A, et al. Introduction and overview of the classification of the myeloid neoplasms. In: Swerdlow SH, Campo E, Lee Har-ris N, Jaffe ES, Pileri SA, Stein H, et al, editors. In: World Health Organization (WHO) classification of tumors of haematopoietic and lymphoid tissues. 4th ed. Lyon: Interna-tional agency for research on cancer (IARC); 2008. p. 18‒30.

Sreekantaiah C, Baer MR, Preisler HD, Sandberg AA. Involve-ment of bands 9q21-q22 in five cases of acute nonlymphocyt-ic leukemia. Cancer Genet Cytogenet 1989; 39(1): 55‒64.

Wiktor A, Rybicki BA, Piao ZS, Shurafa M, Barthel B, Maeda K, et al. Clinical significance of Y chromosome loss in hemato-logic disease. Genes Chromosomes Cancer 2000; 27(1): 11‒6.

Welborn J. Constitutional chromosome aberrations as pathoge-netic events in hematologic malignancies. Cancer Genet Cyto-genet 2004; 149(2): 137‒53.

Gilbert HS. Long term treatment of myeloproliferative disease with interferon-alpha-2b: feasibility and efficacy. Cancer 1998; 83(6): 1205‒13.

Objavljeno
2021/05/06
Broj časopisa
Vol. 77 Br. 5 (2020): Vojnosanit Pregl
Rubrika
Originalni članak