medigraphic.com
ISSN 1561-2996 (Electronic)
ISSN 0864-0289 (Print)

2018, Number 3

<< Back Next >>

Rev Cubana Hematol Inmunol Hemoter 2018; 34 (3)

Utility of karyotype and flow cytometry in multiple myeloma

Martínez SLM, Álvarez HLF, Ruiz MC, Villegas ÁJD

Language: Spanish
References: 50
Page: 1-16
PDF size: 431.69 Kb.


ABSTRACT

Introduction: Multiple myeloma has an approximate incidence of 3.5 to 6 cases per 100 000 people per year, being the second most common hematological neoplasm, representing more than 10 % cases of hematological malignancies.
Objective: To review the main genetic patterns of multiple myeloma through multiparametric flow cytometry and karyotype, highlighting its advantages and disadvantages.
Methods: An exhaustive literature review was conducted from September 2017 to March 2018 in databases such as Medline, Science Direct, Lilacs and Embase, in English and Spanish, with the MeSH terms search: multiple myeloma, flow cytometry, karyotype, genetics, diagnosis.
Results: Although there are other diagnostic methods used in multiple myeloma, multiparametric flow cytometry and karyotype are still the most used.
Conclusion: Multiparametric flow cytometry is a pillar in the immunophenotyping and monitoring of hematological neoplasms, together with the patient's clinical, paraclinical results and morphological evaluation of the blood, as well as being part of the initial evaluation due to the ability to provide conclusive results in a short time.


REFERENCES

  1. Kumar S, Kimlinger T, Morice W. Immunophenotyping in multiple myeloma and related plasma cell disorders. Best Pract Res Clin Haematol. 2010;23(3):433-51.

  2. Paiva B, Almeida J, Pérez-Andrés M, Mateo G, López A, Rasillo A, et al. Utility of flow cytometry immunophenotyping in multiple myeloma and other clonal plasma cell-related disorders. Cytometry B Clin Cytom. 2010;78(4):239-52.

  3. Jeong TD, Park CJ, Shim H, Jang S, Chi HS, Yoon DH, et al. Simplified flow cytometric immunophenotyping panel for multiple myeloma, CD56/CD19/CD138(CD38)/CD45, to differentiate neoplastic myeloma cells from reactive plasma cells. Korean J Hematol. 2012;47(4):260-6.

  4. Galtseva IV, Davydova YO, Kapranov NM, Julhakyan HL, Mendeleeva LP. Minimal residual disease in multiple myeloma: Benefits of flow cytometry. Int J Lab Hematol. 2018;40(1):12-20.

  5. Monterosso L, Taylor K, Platt V, Lobb E, Musiello T, Bulsara C, et al. Living With Multiple Myeloma: A Focus Group Study of Unmet Needs and Preferences for Survivorship Care. J Patient Exp. 2018;5(1):6-15.

  6. Jelinek T, Bezdekova R, Zatopkova M, Burgos L, Simicek M, Sevcikova T. Current applications of multiparameter flow cytometry in plasma cell disorders. Blood Cancer J. 2017;7(10):e617.

  7. Hao S, Lin P, Medeiros LJ, Fang L, Carballo-Zarate AA, Konoplev SN. Clinical implications of cytogenetic heterogeneity in multiple myeloma patients with TP53 deletion. Mod Pathol. 2017;30(10):1378-86.

  8. Cannizzo E, Bellio E, Sohani AR, Hasserjian RP, Ferry JA, Dorn ME, et al. Multiparameter immunophenotyping by flow cytometry in multiple myeloma: The diagnostic utility of defining ranges of normal antigenic expression in comparison to histology. Cytometry B Clin Cytom. 2010 Jul;78(4):231-8.

  9. Molina-Garrido JM, Guillén-Ponce C, Guirado-Risueño M, Martínez-Sevilla C, Carrato A. Diagnóstico diferencial de las gammapatías monoclonales. An Med Interna. 2006 Nov;23(11):546-51.

  10. Borja JN, Mancero CM, Bravo RC, Morales RE. Mieloma múltiple: aspectos biológicos, clínicos, diagnóstico, tratamiento con nuevos agentes y estadificación. Revisión de dos casos clínicos. Medicina (Mex). 2014;18(2):87-94.

  11. Lee HC, Patel K, Kongtim P, Parmar S, Lin P, Qazilbash MH, et al. Multiple Myeloma and Other Plasma Cell Dyscrasias. The MD Anderson Manual of Medical Oncology, 3 ed, New York: McGraw-Hill Medical; 2016.

  12. Kyle RA, Rajkumar SV. Criteria for diagnosis, staging, risk stratification and response assessment of multiple myeloma. Leukemia. 2009 Jan;23(1):3-9.

  13. Corzo A, Duarte P, Kusminsky G, Ochoa P, Orlando S, Quiroga L, et al. Gammapatías monoclonales. Sociedad Argentina de Hematología. Guías de diagnóstico y tratamiento. 2017. (Accedido: febrero 25, 2018). Disponible en: http://sah.org.ar/docs/2017/002- Gammapat%C3%ADas%20Monoclonales.pdf

  14. Pedroza-Vázquez A, Zamora-Palma A. Utilidad de pruebas de laboratorio en el diagnóstico de mieloma múltiple. Rev Latinoam Patol Clínica Med Lab. 2015;62(1):55-62.

  15. Heaney JLJ, Campbell JP, Yadav P, Griffin AE, Shemar M, Pinney JH, et al. Multiple myeloma can be accurately diagnosed in acute kidney injury patients using a rapid serum free light chain test. BMC Nephrol. 2017;18(1):247.

  16. Papadakis MA, McPhee SJ. Multiple Myeloma. Quick Medical Diagnosis & Treatment 2017. New York: McGraw-Hill Education; 2017.

  17. Kyle RA, Gertz MA, Witzig TE, Lust JA, Lacy MQ, Dispenzieri A, et al. Review of 1027 patients with newly diagnosed multiple myeloma. Mayo Clin Proc. 2003;78(1):21-33.

  18. Bellotti-Mustecic M, Zylberberg I, Stavaru-Marinescu B, Muñoz-Guerra M, Sastre Pérez J, Diez G, et al. Diagnóstico de mieloma múltiple a raíz de una lesión osteolítica mandibular. Rev Esp Cir Oral Maxilofac. 2016;38(4):213-7.

  19. Lacy MQ, Gertz MA, Hanson CA, Inwards DJ, Kyle RA. Multiple myeloma associated with diffuse osteosclerotic bone lesions: a clinical entity distinct from osteosclerotic myeloma (POEMS syndrome). Am J Hematol. 1997;56(4):288-93.

  20. Rajkumar SV, Dimopoulos MA, Palumbo A, Blade J, Merlini G, Mateos MV, et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 2014;15(12):e538-48.

  21. Munshi NC, Longo DL, Anderson KC. Plasma Cell Disorders. Harrison's Principles of Internal Medicine, 19ed. New York: McGraw-Hill Education; 2015.

  22. Dispenzieri A, Kyle RA, Katzmann JA, Therneau TM, Larson D, Benson J, et al. Immunoglobulin free light chain ratio is an independent risk factor for progression of smoldering (asymptomatic) multiple myeloma. Blood. 2008;111(2):785-9.

  23. García-Sanz R, Mateos M, San Miguel J. Mieloma múltiple. Med Clin (Barc). 2007;129(3):104-15.

  24. Sommaluan S, Rerkamnuaychoke B, Pauwilai T, Chancharunee S, Onsod P, Pornsarayuth P, et al. The Utilization of Karyotyping, iFISH, and MLPA for the Detection of Recurrence Genetic Aberrations in Multiple Myeloma. Asian Pac J Cancer Prev. 2017;18(11):3135-42.

  25. Chillón MC, Jiménez C, García-Sanz R, Alcoceba M, Prieto I, García-Alvarez M, et al. Quantitative PCR: an alternative approach to detect common copy number alterations in multiple myeloma. Ann Hematol. 2017;96(10):1699-705.

  26. Fernández de Larrea C, Verga L, Morbini P, Klersy C, Lavatelli F, Foli A, et al. A practical approach to the diagnosis of systemic amyloidosis. Blood. 2015;125(14):2239-44.

  27. García-Sanz R, Montoto S, Torrequebrada A, de Coca AG, Petit J, Sureda A, et al. Waldenström macroglobulinaemia: presenting features and outcome in a series with 217 cases. Br J Haematol. 2001;115(3):575-82.

  28. Dimopoulos MA, Panayiotidis P, Moulopoulos LA, Sfikakis P, Dalakas M. Waldenström's macroglobulinemia: clinical features, complications, and management. J Clin Oncol. 2000;18(1):214-26.

  29. Hunter ZR, Xu L, Yang G, Zhou Y, Liu X, Cao Y, et al. The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis. Blood. 2014;123(11):1637-46.

  30. Treon SP, Xu L, Yang G, Zhou Y, Liu X, Cao Y, et al. MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. N Engl J Med. 2012;367(9):826-33.

  31. Adams D, Said G. Ultrastructural characterisation of the M protein in nerve biopsy of patients with POEMS syndrome. J Neurol Neurosurg Psychiatry. 1998;64(6):809-12.

  32. Bladé J, Kyle RA. Multiple myeloma in young patients: clinical presentation and treatment approach. Leuk Lymphoma. 1998;30(5-6):493-501.

  33. Dao LN, Hanson CA, Dispenzieri A, Morice WG, Kurtin PJ, Hoyer JD. Bone marrow histopathology in POEMS syndrome: a distinctive combination of plasma cell, lymphoid, and myeloid findings in 87 patients. Blood. 2011;117(24):6438-44.

  34. Deshmukh M, Elderfield K, Rahemtulla A, Naresh KN. Immunophenotype of neoplastic plasma cells in AL amyloidosis. J Clin Pathol. 2009;62(8):724-30.

  35. Sissoko M, Sanchorawala V, Seldin D, Sworder B, Angelino K, Broce M, et al. Clinical presentation and treatment responses in IgM-related AL amyloidosis. Amyloid. 2015;22(4):229-35.

  36. Madan S, Dispenzieri A, Lacy MQ, Buadi F, Hayman SR, Zeldenrust SR, et al. Clinical features and treatment response of light chain (AL) amyloidosis diagnosed in patients with previous diagnosis of multiple myeloma. Mayo Clin Proc. 2010;85(3):232-8.

  37. Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. SeminHematol. 1995;32(1):45-59.

  38. Schop RFJ, Kuehl WM, Van Wier SA, Ahmann GJ, Price-Troska T, Bailey RJ, et al. Waldenström macroglobulinemia neoplastic cells lack immunoglobulin heavy chain locus translocations but have frequent 6q deletions. Blood. 2002;100(8):2996-3001.

  39. Treon SP, Hunter ZR, Aggarwal A, Ewen EP, Masota S, Lee C, et al. Characterization of familial Waldenstrom's macroglobulinemia. Ann Oncol. 2006 Mar;17(3):488-94.

  40. Varettoni M, Zibellini S, Defrancesco I, Ferretti VV, Rizzo E, Malcovati L, et al. Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance. Haematologica. 2017;102(12):2077-85.

  41. Li J, Zhou D-B, Huang Z, Jiao L, Duan M-H, Zhang W, et al. Clinical characteristics and longterm outcome of patients with POEMS syndrome in China. Ann Hematol. 2011;90(7):819-26.

  42. Lynch HT, Watson P, Tarantolo S, Wiernik PH, Quinn-Laquer B, IsgurBergsagel K, et al. Phenotypic heterogeneity in multiple myeloma families. J Clin Oncol. 2005 Feb 1;23(4):685-93.

  43. Takamatsu H. Comparison of Minimal Residual Disease Detection by Multiparameter Flow Cytometry, ASO-qPCR, Droplet Digital PCR, and Deep Sequencing in Patients with Multiple Myeloma Who Underwent Autologous Stem Cell Transplantation. J Clin Med. 2017 Sep;6(10). pii: E91.

  44. Paiva B, Merino J, San Miguel JF. Utility of flow cytometry studies in the management of patients with multiple myeloma. Curr Opin Oncol. 2016;28(6):511-7.

  45. Romero-García F. Novedades en mieloma múltiple. Gac Méd Méx. 2003. 139(2):131-8.

  46. Stella F, Pedrazzini E, Agazzoni M, Ballester O, Slavutsky I. Cytogenetic Alterations in Multiple Myeloma: Prognostic Significance and the Choice of Frontline Therapy. Cancer Invest. 2015;33(10):496-504.

  47. Shibuya K, Misawa S, Horikoshi T, Kanai K, Isose S, Nasu S, et al. Detection of bone lesions by CT in POEMS syndrome. Intern Med. 2011;50(13):1393-6

  48. Dispenzieri A, Kyle RA, Lacy MQ, Rajkumar SV, Therneau TM, Larson DR, et al. POEMS syndrome: definitions and long-term outcome. Blood. 2003;101(7):2496-506.

  49. Fonseca R, Hayman S. Waldenström macroglobulinaemia. Br J Haematol. 2007;138(6):700-20

  50. Charlot-Lambrecht I, Salmon J, Gagneux-Lemoussu L, Brochot P, Eschard J. Mieloma múltiple. EMC-Aparato locomotor, 2012.45(1):1-13.




2020     |     www.medigraphic.com