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Molecular Testing of Lymphoproliferative Disorders: Current Status and Perspectives

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Molecular pathologic testing plays an important role for the diagnosis, prognostication and decision of treatment strategy in lymphoproliferative disease. Here, we briefly review the molecular tests currently used for lymphoproliferative disease and those which will be implicated in clinical practice in the near future. Specifically, this guideline addresses the clonality test for B- and T-cell proliferative lesions, molecular cytogenetic tests for malignant lymphoma, determination of cellof-origin in diffuse large B-cell lymphoma, and molecular genetic alterations incorporated in the 2016 revision of the World Health Organization classification of lymphoid neoplasms. Finally, a new perspective on the next-generation sequencing for diagnostic, prognostic, and therapeutic purpose in malignant lymphoma will be summarized.

Abstract

Molecular pathologic testing plays an important role for the diagnosis, prognostication and decision of treatment strategy in lymphoproliferative disease. Here, we briefly review the molecular tests currently used for lymphoproliferative disease and those which will be implicated in clinical practice in the near future. Specifically, this guideline addresses the clonality test for B- and T-cell proliferative lesions, molecular cytogenetic tests for malignant lymphoma, determination of cellof-origin in diffuse large B-cell lymphoma, and molecular genetic alterations incorporated in the 2016 revision of the World Health Organization classification of lymphoid neoplasms. Finally, a new perspective on the next-generation sequencing for diagnostic, prognostic, and therapeutic purpose in malignant lymphoma will be summarized.

참고문헌 (92)

  1. Tonegawa S, "Somatic generation of antibody diversity", Nature, 302, pp.575~581 (1983)
  2. Davis MM, "T-cell antigen receptor genes and T-cell recognition", Nature, 334, pp.395~402 (1988)
  3. van Dongen JJ, "Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936", Leukemia, 17, pp.2257~2317 (2003)
  4. Gilfillan S, "Mice lacking TdT: mature animals with an immature lymphocyte repertoire", Science, 261, pp.1175~1178 (1993)
  5. van Dongen JJ, "Leukemia", pp.85~130 (2002), WB Saunders Company
  6. Langerak AW, "EuroClonality", BIOMED-2 guidelines for interpretation and reporting of Ig, Leukemia, pp.2012, 26[DOI]
  7. Sherwood AM, "Deep sequencing of the human TCRγ and TCRβ repertoires suggests that TCRβ rearranges after αβ and γδ T cell commitment", Sci Transl Med, 3, pp.90~61 (2011)
  8. Bailey NG, "Molecular diagnostics of T-cell lymphoproliferative disorders", Cancer J, 20, pp.48~60 (2014)
  9. Schafernak KT, "Clonality assessment of cutaneous B-cell lymphoid proliferations: a comparison of flow cytometry immunophenotyping, molecular studies, and immunohistochemistry", in situ hybridization and review of the literature, 2014, pp.36, 781~795
  10. FÖdinger M, "Combined polymerase chain reaction approach for clonality detection in lymphoid neoplasms", Diagn Mol Pathol, 8, pp.80~91 (1999)
  11. Thériault C, "PCR analysis of immunoglobulin heavy chain (IgH) and TcR-γ chain gene rearrangements in the diagnosis of lymphoproliferative disorders: results of a study of 525 cases", Mod Pathol, 13, pp.1269~1279 (2000)
  12. Benhattar J, "Improved polymerase chain reaction detection of clonal T-cell lymphoid neoplasms", Diagn Mol Pathol, 4, pp.108~112 (1995)
  13. Signoretti S, "Detection of clonal T-cell receptor γ gene rearrangements in paraffin-embedded tissue by polymerase chain reaction and nonradioactive single-strand conformational polymorphism analysis", Am J Pathol, 154, pp.67~75 (1999)
  14. Patel KP, "Comparison of BIOMED-2 versus laboratory-developed polymerase chain reaction assays for detecting T-cell receptor-γ gene rearrangements", J Mol Diagn, 12, pp.226~237 (2010)
  15. van Krieken JH, "Improved reliability of lymphoma diagnostics via PCR-based clonality testing: report of the BIOMED-2 Concerted Action BHM4-CT98-3936", Leukemia, 21, pp.201~206 (2007)
  16. Langerak AW, "Polymerase chain reaction-based clonality testing in tissue samples with reactive lymphoproliferations: usefulness and pitfalls. A report of the BIOMED-2 Concerted Action BMH4-CT98-3936", Leukemia, 21, pp.222~229 (2007)
  17. Brüggemann M, "Powerful strategy for polymerase chain reaction-based clonality assessment in T-cell malignancies Report of the BIOMED-2 Concerted Action BHM4 CT98-3936", Leukemia, 21, pp.215~221 (2007)
  18. Kuppers R, "Cellular origin of human B-cell lymphomas", N Engl J Med, 341, pp.1520~1529 (1999)
  19. Davis TH, "Detection of clonal immunoglobulin gene rearrangements by polymerase chain reaction amplification and single-strand conformational polymorphism analysis", Am J Pathol, 142, pp.1841~1847 (1993)
  20. Bourguin A, "nonradioactive detection of clonal T-cell receptor gene rearrangements in lymphoid neoplasms", Proc Natl Acad Sci U S A, 87, pp.8536~8540 (1990)
  21. Medeiros LJ, "Overview of the role of molecular methods in the diagnosis of malignant lymphomas", Arch Pathol Lab Med, 123, pp.1189~1207 (1999)
  22. Boeckx N, "Fusion gene transcripts and Ig", TCR gene rearrangements are complementary but infrequent targets for PCR-based detection of minimal residual disease in acute myeloid leukemia, 2002, pp.16, 368~375
  23. Szczepanski T, "Cross-lineage T cell receptor gene rearrangements occur in more than ninety percent of childhood precursor-B acute lymphoblastic leukemias: alternative PCR targets for detection of minimal residual disease", Leukemia, 13, pp.196~205 (1999)
  24. Szczepanski T, "Lymphoma with multi-gene rearrangement on the level of immunoglobulin heavy chain, light chain, and T-cell receptor β chain", Am J Hematol, 59, pp.99~100 (1998)
  25. Moreau EJ, "Easy detection of all T cell receptor gamma (TCRG) gene rearrangements by Southern blot analysis: recommendations for optimal results", Leukemia, 13, pp.1620~1626 (1999)
  26. Langerak AW, "Detection of T cell receptor beta (TCRB) gene rearrangement patterns in T cell malignancies by Southern blot analysis", Leukemia, 13, pp.965~974 (1999)
  27. Kluin P, "Molecular cytogenetics of lymphoma: where do we stand in 2010", Histopathology, 58, pp.128~144 (2011)
  28. Niitsu N, "Clinical features and prognosis of de novo diffuse large B-cell lymphoma with t(14;18) and 8q24", c-MYC translocations, 2009, pp.23, 777~783
  29. Johnson NA, "Concurrent expression of MYC and BCL2 in diffuse large B-cell lymphoma treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone", J Clin Oncol, 30, pp.3452~3459 (2012)
  30. Horn H, "MYC status in concert with BCL2 and BCL6 expression predicts outcome in diffuse large B-cell lymphoma", Blood, 121, pp.2253~2263 (2013)
  31. Hu S, "MYC", BCL2 protein coexpression contributes to the inferior survival of activated B-cell subtype of diffuse large B-cell lymphoma and demonstrates high-risk gene expression signatures: a report from The International DLBCL Rituximab-CHOP Consortium Program, 2013, pp.121, 4021~4031
  32. Swerdlow SH, "The 2016 revision of the World Health Organization classification of lymphoid neoplasms", Blood, 127, pp.2375~2390 (2016)
  33. Swerdlow SH, "WHO classification of tumours of haematopoietic and lymphoid tissues" (2008), IARC Press
  34. Green TM, "Immunohistochemical double-hit score is a strong predictor of outcome in patients with diffuse large B-cell lymphoma treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone", J Clin Oncol, 30, pp.3460~3467 (2012)
  35. Campbell LJ, "Cancer cytogenetics: methods and protocols" (2011), Humana Press
  36. Wolff DJ, "Guidance for fluorescence in situ hybridization testing in hematologic disorders", J Mol Diagn, 9, pp.134~143 (2007)
  37. McGowan-Jordan J, "ISCN 2016: an international system for human cytogenomic nomenclature" (2016), Karger
  38. Alizadeh AA, "Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling", Nature, 403, pp.503~511 (2000)
  39. Wright G, "A gene expression-based method to diagnose clinically distinct subgroups of diffuse large B cell lymphoma", Proc Natl Acad Sci U S A, 100, pp.9991~9996 (2003)
  40. Testoni M, "Genetic lesions in diffuse large B-cell lymphomas", Ann Oncol, 26, pp.1069~1080 (2015)
  41. Carbone A, "Diffuse large B cell lymphoma: using pathologic and molecular biomarkers to define subgroups for novel therapy", Ann Hematol, 93, pp.1263~1277 (2014)
  42. Hans CP, "Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray", Blood, 103, pp.275~282 (2004)
  43. Choi WW, "A new immunostain algorithm classifies diffuse large B-cell lymphoma into molecular subtypes with high accuracy", Clin Cancer Res, 15, pp.5494~5502 (2009)
  44. Meyer PN, "Immunohistochemical methods for predicting cell of origin and survival in patients with diffuse large B-cell lymphoma treated with rituximab", J Clin Oncol, 29, pp.200~207 (2011)
  45. Gutiérrez-García G, "Gene-expression profiling and not immunophenotypic algorithms predicts prognosis in patients with diffuse large B-cell lymphoma treated with immunochemotherapy", Blood, 117, pp.4836~4843 (2011)
  46. Intlekofer AM, "Precision therapy for lymphoma : current state and future directions", Nat Rev Clin Oncol, 11, pp.585~596 (2014)
  47. Scott DW, "Determining cell-of-origin subtypes of diffuse large B-cell lymphoma using gene expression in formalin-fixed paraffin-embedded tissue", Blood, 123, pp.1214~1217 (2014)
  48. Scott DW, "Prognostic significance of diffuse large B-cell lymphoma cell of origin determined by digital gene expression in formalin-fixed paraffin-embedded tissue biopsies", J Clin Oncol, 33, pp.2848~2856 (2015)
  49. Dietrich S, "BRAF inhibition in hairy cell leukemia with low-dose vemurafenib", Blood, 127, pp.2847~2855 (2016)
  50. Raess PW, "BRAF V600E is also seen in unclassifiable splenic B-cell lymphoma", leukemia, a potential mimic of hairy cell leukemia, 2013, pp.122, 3084~3085
  51. Blombery PA, "Detection of BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders", Haematologica, 97, pp.780~783 (2012)
  52. Arcaini L, "The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms", Blood, 119, pp.188~191 (2012)
  53. Mason EF, "Detection of activating MAP2K1 mutations in atypical hairy cell leukemia and hairy cell leukemia variant", Leuk Lymphoma, 58, pp.233~236 (2017)
  54. Waterfall JJ, "High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias", Nat Genet, 46, pp.8~10 (2014)
  55. Prashant Kapoor, "Diagnosis and Management of Waldenström Macroglobulinemia", JAMA Oncology, 3(9), pp.1257~ (2017), American Medical Association (AMA)[DOI]
  56. Schmidt J, "MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity", Br J Haematol, 169, pp.795~803 (2015)
  57. Martinez-Lopez A, "MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma", Am J Surg Pathol, 39, pp.644~651 (2015)
  58. Hamadeh F, "MYD88 L265P mutation analysis helps define nodal lymphoplasmacytic lymphoma", Mod Pathol, 28, pp.564~574 (2015)
  59. Salaverria I, "Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults", Blood, 118, pp.139~147 (2011)
  60. Salaverria I, "A recurrent 11q aberration pattern characterizes a subset of MYC-negative highgrade B-cell lymphomas resembling Burkitt lymphoma", Blood, 123, pp.1187~1198 (2014)
  61. Ferreiro JF, "Post-transplant molecularly defined Burkitt lymphomas are frequently MYC-negative and characterized by the 11q-gain", loss pattern, 2015, pp.100, e275~e279
  62. Stilgenbauer S, "Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial", Blood, 123, pp.3247~3254 (2014)
  63. Nadeu F, "Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia", Blood, 127, pp.2122~2130 (2016)
  64. te Raa GD, "Overview of available p53 function tests in relation to TP53 and ATM gene alterations and chemoresistance in chronic lymphocytic leukemia", Leuk Lymphoma, 54, pp.1849~1853 (2013)
  65. Rossi D, "Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia", Blood, 119, pp.2854~2862 (2012)
  66. Beà S, "Landscape of somatic mutations and clonal evolution in mantle cell lymphoma", Proc Natl Acad Sci U S A, 110, pp.18250~18255 (2013)
  67. Xu-Monette ZY, "Mutational profile and prognostic significance of TP53 in diffuse large B-cell lymphoma patients treated with R-CHOP: report from an International DLBCL Rituximab-CHOP Consortium Program Study", Blood, 120, pp.3986~3996 (2012)
  68. Cao Y, "Mutations or copy number losses of CD58 and TP53 genes in diffuse large B cell lymphoma are independent unfavorable prognostic factors", Oncotarget, 7, pp.83294~83307 (2016)
  69. Jardin F, "Recurrent mutations of the exportin 1 gene (XPO1) and their impact on selective inhibitor of nuclear export compounds sensitivity in primary mediastinal Bcell lymphoma", Am J Hematol, 91, pp.923~930 (2016)
  70. Camus V, "Detection and prognostic value of recurrent exportin 1 mutations in tumor and cellfree circulating DNA of patients with classical Hodgkin lymphoma", Haematologica, 101, pp.1094~1101 (2016)
  71. Nakajima H, "TET2 as an epigenetic master regulator for normal and malignant hematopoiesis", Cancer Sci, 105, pp.1093~1099 (2014)
  72. Lemonnier F, "Recurrent TET2 mutations in peripheral T-cell lymphomas correlate with TFH-like features and adverse clinical parameters", Blood, 120, pp.1466~1469 (2012)
  73. Young RM, "B-cell receptor signaling in diffuse large B-cell lymphoma", Semin Hematol, 52, pp.77~85 (2015)
  74. Okosun J, "Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma", Nat Genet, 46, pp.176~181 (2014)
  75. Bouska A, "Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma", Leukemia, 31, pp.83~91 (2017)
  76. Younes A, "Promising novel agents for aggressive B-cell lymphoma", Hematol Oncol Clin North Am, 30, pp.1229~1237 (2016)
  77. Kurmasheva RT, "Initial testing (stage 1) of tazemetostat (EPZ-6438), a novel EZH2 inhibitor, by the pediatric preclinical testing program", Pediatr Blood Cancer, 64, pp.e26218~ (2017)
  78. Parrilla Castellar ER, "ALK-negative anaplastic large cell lymphoma is a genetically heterogeneous disease with widely disparate clinical outcomes", Blood, 124, pp.1473~1480 (2014)
  79. King RL, "Morphologic features of ALKnegative anaplastic large cell lymphomas with DUSP22 rearrangements", Am J Surg Pathol, 40, pp.36~43 (2016)
  80. Manso R, "The RHOA G17V gene mutation occurs frequently in peripheral T-cell lymphoma and is associated with a characteristic molecular signature", Blood, 123, pp.2893~2894 (2014)
  81. Yoo HY, "A recurrent inactivating mutation in RHOA GTPase in angioimmunoblastic T cell lymphoma", Nat Genet, 46, pp.371~375 (2014)
  82. Sakata-Yanagimoto M, "Somatic RHOA mutation in angioimmunoblastic T cell lymphoma", Nat Genet, 46, pp.171~175 (2014)
  83. Palomero T, "Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas", Nat Genet, 46, pp.166~170 (2014)
  84. Vallois D, "Activating mutations in genes related to TCR signaling in angioimmunoblastic and other follicular helper T-cell-derived lymphomas", Blood, 128, pp.1490~1502 (2016)
  85. Rohr J, "Recurrent activating mutations of CD28 in peripheral T-cell lymphomas", Leukemia, 30, pp.1062~1070 (2016)
  86. Streubel B, "Novel t(5;9)(q33;q22) fuses ITK to SYK in unspecified peripheral T-cell lymphoma", Leukemia, 20, pp.313~318 (2006)
  87. Pechloff K, "The fusion kinase ITK-SYK mimics a T cell receptor signal and drives oncogenesis in conditional mouse models of peripheral T cell lymphoma", J Exp Med, 207, pp.1031~1044 (2010)
  88. Wang C, "IDH2R172 mutations define a unique subgroup of patients with angioimmunoblastic Tcell lymphoma", Blood, 126, pp.1741~1752 (2015)
  89. Cairns RA, "IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma", Blood, 119, pp.1901~1903 (2012)
  90. Jiang L, "Exome sequencing identifies somatic mutations of DDX3X in natural killer", T-cell lymphoma, 2015, pp.47, 1061~1066
  91. Lee S, "Genetic alterations of JAK", STAT cascade and histone modification in extranodal NK, Oncotarget, pp.2015, 6[DOI]
  92. Dobashi A, "Frequent BCOR aberrations in extranodal NK", T-cell lymphoma, nasal type, 2016, pp.55, 460~471

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