Annals of Diagnostic Pathology
Volume 10, Issue 1 , Pages 39-65 , February 2006

Advances in the pathologic diagnosis and biology of acute myeloid leukemia

  • Sergej Konoplev, MD, PhD
  • ,
  • Carlos E. Bueso-Ramos, MD, PhD

      Affiliations

    • Corresponding Author InformationCorresponding author. Division of Pathology and Laboratory Medicine, Hematopathology Program, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4095, USA. Tel.: +1 713 792 6328; fax: +1 713 794 1800.

References 

  1. Brunning RDME, Harris NL, Flandrin G, Vardiman J, Bennett J, Head D. Acute myeloid leukemia. In:  Jaffe ES,  Harris NL,  Stein H,  Vardiman JW editor. World Health Organization Classification of Tumours: Pathology and Genetics of Tumors of Haematopoietic and Lymphoid Tissues. Lyon: ARC Press; 2000;p. 75–107
  2. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292–2302
  3. Zhang PJ, Barcos M, Stewart CC, et al. Immunoreactivity of MIC2 (CD99) in acute myelogenous leukemia and related diseases. Mod Pathol. 2000;13:452–458
  4. Dicke KA, Hood DL, Arneson M, et al. Effects of short-term in vivo administration of G-CSF on bone marrow prior to harvesting. Exp Hematol. 1997;25:34–38
  5. Ganser A, Ottmann OG, Seipelt G, et al. Effect of long-term treatment with recombinant human interleukin-3 in patients with myelodysplastic syndromes. Leukemia. 1993;7:696–701
  6. Naeim F, Champlin R, Nimer S. Bone marrow changes in patients with refractory aplastic anemia treated by recombinant GM-CSF. Hematol Pathol. 1990;4:79–85
  7. Fialkow PJ, Singer JW, Adamson JW, et al. Acute nonlymphocytic leukemia: heterogeneity of stem cell origin. Blood. 1981;57:1068–1073
  8. Ries LAG, Eisner MKC. SEER Cancer statistics review, 1973-1999. Bethesda (Md): National Cancer Institute; 2002;
  9. Hernandez JA, Land KJ, McKenna RW. Leukemias, myeloma, and other lymphoreticular neoplasms. Cancer. 1995;75:381–394
  10. Kinlen LJ. Leukaemia. Cancer Surv. 1994;19-20:475–491
  11. Linet MS, Devessa SS. Epidemiology of leukemia: overview and patterns of epidemiology of leukemia: overview and patterns of occurrence. In:  Henderson ES,  Lister TA,  Greaves MF editor. Leukemia. Philadelphia: WB Saunders; 2002;p. 131–151
  12. Douer D, Preston-Martin S, Chang E, et al. High frequency of acute promyelocytic leukemia among Latinos with acute myeloid leukemia. Blood. 1996;87:308–313
  13. Wertelecki W, Shapiro JR. 45,XO Turner's syndrome and leukaemia. Lancet. 1970;1:789–790
  14. Schwartz CL, Cohen HJ. Preleukemic syndromes and other syndromes predisposing to leukemia. Pediatr Clin North Am. 1988;35:853–871
  15. Kato H, Brown CC, Hoel DG, et al. Studies of the mortality of A-bomb survivors. Report 7. Mortality, 1950-1978: Part II. Mortality from causes other than cancer and mortality in early entrants. Radiat Res. 1982;91:243–264
  16. Kodama K, Mabuchi K, Shigematsu I. A long-term cohort study of the atomic-bomb survivors. J Epidemiol. 1996;6:S95–S105
  17. Ellis M, Ravid M, Lishner M. A comparative analysis of alkylating agent and epipodophyllotoxin-related leukemias. Leuk Lymphoma. 1993;11:9–13
  18. Michels SD, McKenna RW, Arthur DC, et al. Therapy-related acute myeloid leukemia and myelodysplastic syndrome: a clinical and morphologic study of 65 cases. Blood. 1985;65:1364–1372
  19. Pui CH, Relling MV, Rivera GK, et al. Epipodophyllotoxin-related acute myeloid leukemia: a study of 35 cases. Leukemia. 1995;9:1990–1996
  20. Mills PK, Newell GR, Beeson WL, et al. History of cigarette smoking and risk of leukemia and myeloma: results from the Adventist health study. J Natl Cancer Inst. 1990;82:1832–1836
  21. Sullivan A. Classification, pathogenesis, and etiology of neoplastic diseases of the hematopoietic system. In:  Lee GR,  Bithell TC,  Foerster J, et al. editor. Wintrobe's clinical hematology. Wintrobe's clinical hematology: Lea & Febiger; 1993;p. 1725–1791
  22. Boggs DR, Wintrobe MM, Cartwright GE. The acute leukemias. Analysis of 322 cases and review of the literature. Medicine (Baltimore). 1962;41:163–225
  23. O'Regan S, Carson S, Chesney RW, et al. Electrolyte and acid-base disturbances in the management of leukemia. Blood. 1977;49:345–353
  24. Wiernik P. Diagnosis and treatment of adult acute myelocytic leukemia. In:  Wiernik PH,  Canellos GP,  Dutcher JP,  Kyle RA editor. Neoplastic Diseases of the Blood. New York: Churchill Livingstone; 1996;p. 331–351
  25. Lichtman MA, Rowe JM. Hyperleukocytic leukemias: rheological, clinical, and therapeutic considerations. Blood. 1982;60:279–283
  26. Cuttner J. Hyperleukocytosis in adult leukemias. In:  Bloomfield CD editors. Chronic and Acute Leukemias in Adults. Boston: Martinus Nijhoff; 1985;p. 263–267
  27. Gralnick HR, Marchesi S, Givelber H. Intravascular coagulation in acute leukemia: clinical and subclinical abnormalities. Blood. 1972;40:709–718
  28. Goad KE, Gralnick HR. Coagulation disorders in cancer. Hematol Oncol Clin North Am. 1996;10:457–484
  29. Kubota T, Andoh K, Sadakata H, et al. Tissue factor released from leukemic cells. Thromb Haemost. 1991;65:59–63
  30. Ribeiro RC, Pui CH. The clinical and biological correlates of coagulopathy in children with acute leukemia. J Clin Oncol. 1986;4:1212–1218
  31. Scott CS, Stark AN, Limbert HJ, et al. Diagnostic and prognostic factors in acute monocytic leukaemia: an analysis of 51 cases. Br J Haematol. 1988;69:247–252
  32. Muller S, Sangster G, Crocker J, et al. An immunohistochemical and clinicopathological study of granulocytic sarcoma (‘chloroma’). Hematol Oncol. 1986;4:101–112
  33. Neiman RS, Barcos M, Berard C, et al. Granulocytic sarcoma: a clinicopathologic study of 61 biopsied cases. Cancer. 1981;48:1426–1437
  34. Abe R, Umezu H, Uchida T, et al. Myeloblastoma with an 8;21 chromosome translocation in acute myeloblastic leukemia. Cancer. 1986;58:1260–1264
  35. Welch P, Grossi C, Carroll A, et al. Granulocytic sarcoma with an indolent course and destructive skeletal disease. Tumor characterization with immunologic markers, electron microscopy, cytochemistry, and cytogenetic studies. Cancer. 1986;57:1005–1010
  36. Valbuena JR, Admirand JH, Lin P, et al. Myeloid sarcoma involving the testis. Am J Clin Pathol. 2005;124:445–452
  37. Shea B, Reddy V, Abbitt P, et al. Granulocytic sarcoma (chloroma) of the breast: a diagnostic dilemma and review of the literature. Breast J. 2004;10:48–53
  38. Tsimberidou AM, Kantarjian HM, Estey E, et al. Outcome in patients with nonleukemic granulocytic sarcoma treated with chemotherapy with or without radiotherapy. Leukemia. 2003;17:1100–1103
  39. Dusenbery KE, Howells WB, Arthur DC, et al. Extramedullary leukemia in children with newly diagnosed acute myeloid leukemia: a report from the Children's Cancer Group. J Pediatr Hematol Oncol. 2003;25:760–768
  40. Wiernik PH, De Bellis R, Muxi P, et al. Extramedullary acute promyelocytic leukemia. Cancer. 1996;78:2510–2514
  41. Meis JM, Butler JJ, Osborne BM, et al. Granulocytic sarcoma in nonleukemic patients. Cancer. 1986;58:2697–2709
  42. O'Malley DP, Orazi A, Wang M, et al. Analysis of loss of heterozygosity and X chromosome inactivation in spleens with myeloproliferative disorders and acute myeloid leukemia. Mod Pathol. 2005;18:1562–1568
  43. Bennett JM, Catovsky D, Daniel MT, et al. Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. Ann Intern Med. 1985;103:620–625
  44. Wells DA, Benesch M, Loken MR, et al. Myeloid and monocytic dyspoiesis as determined by flow cytometric scoring in myelodysplastic syndrome correlates with the IPSS and with outcome after hematopoietic stem cell transplantation. Blood. 2003;102:394–403
  45. Bennett JM, Catovsky D, Daniel MT, et al. Criteria for the diagnosis of acute leukemia of megakaryocyte lineage (M7). A report of the French-American-British Cooperative Group. Ann Intern Med. 1985;103:460–462
  46. EGIL. The value of c-kit in the diagnosis of biophenotypic acute leukemia (European Group for the Immunological Classification of Leukemias). Leukemia. 1998;12:2038
  47. Bene MC, Castoldi G, Knapp W, et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia. 1995;9:1783–1786
  48. Weir EG, Borowitz MJ. Flow cytometry in the diagnosis of acute leukemia. Semin Hematol. 2001;38:124–138
  49. Kussick SJ, Wood BL. Using 4-color flow cytometry to identify abnormal myeloid populations. Arch Pathol Lab Med. 2003;127:1140–1147
  50. Kussick SJ, Fromm JR, Rossini A, et al. Four-color flow cytometry shows strong concordance with bone marrow morphology and cytogenetics in the evaluation for myelodysplasia. Am J Clin Pathol. 2005;124:170–181
  51. Haferlach T, Schnittger S, Kern W, et al. Genetic classification of acute myeloid leukemia (AML). Ann Hematol. 2004;83(Suppl 1):S97–S100
  52. Czuczman MS, Dodge RK, Stewart CC, et al. Value of immunophenotype in intensively treated adult acute lymphoblastic leukemia: Cancer and Leukemia Group B Study 8364. Blood. 1999;93:3931–3939
  53. Huret JL, Dessen P, Bernheim A. An atlas of chromosomes in hematological malignancies example: 11q23 and MLL partners. Leukemia. 2001;15:987–989
  54. Mrozek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev. 2004;18:115–136
  55. Giles FJ, Keating A, Goldstone AH, et al. Acute myeloid leukemia. Hematology (Am Soc Hematol Educ Program). 2002;73–110
  56. McKenzie SB. Advances in understanding the biology and genetics of acute myelocytic leukemia. Clin Lab Sci. 2005;18:28–37
  57. Smith SM, Le Beau MM, Huo D, et al. Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series. Blood. 2003;102:43–52
  58. Haferlach T, Kohlmann A, Schnittger S, et al. Global approach to the diagnosis of leukemia using gene expression profiling. Blood. 2005;106:1189–1198
  59. Kottaridis PD, Gale RE, Frew ME, et al. The presence of a FLT3 internal tandem duplication in patients with acute myeloid leukemia (AML) adds important prognostic information to cytogenetic risk group and response to the first cycle of chemotherapy: analysis of 854 patients from the United Kingdom Medical Research Council AML 10 and 12 trials. Blood. 2001;98:1752–1759
  60. Whitman SP, Archer KJ, Feng L, et al. Absence of the wild-type allele predicts poor prognosis in adult de novo acute myeloid leukemia with normal cytogenetics and the internal tandem duplication of FLT3: a Cancer and Leukemia Group B Study. Cancer Res. 2001;61:7233–7239
  61. Caligiuri MA, Strout MP, Lawrence D, et al. Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res. 1998;58:55–59
  62. Dohner K, Tobis K, Ulrich R, et al. Prognostic significance of partial tandem duplications of the MLL gene in adult patients 16 to 60 years old with acute myeloid leukemia and normal cytogenetics: a study of the Acute Myeloid Leukemia Study Group Ulm. J Clin Oncol. 2002;20:3254–3261
  63. Preudhomme C, Sagot C, Boissel N, et al. Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA). Blood. 2002;100:2717–2723
  64. Baldus CD, Tanner SM, Ruppert AS, et al. BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study. Blood. 2003;102:1613–1618
  65. Haferlach T, Schoch C, Loffler H, et al. Morphologic dysplasia in de novo acute myeloid leukemia (AML) is related to unfavorable cytogenetics but has no independent prognostic relevance under the conditions of intensive induction therapy: results of a multiparameter analysis from the German AML Cooperative Group studies. J Clin Oncol. 2003;21:256–265
  66. Estey E, Thall P, Beran M, et al. Effect of diagnosis (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, or acute myeloid leukemia [AML]) on outcome of AML-type chemotherapy. Blood. 1997;90:2969–2977
  67. Konopleva M, Cheng SC, Cortes JE, et al. Independent prognostic significance of day 21 cytogenetic findings in newly-diagnosed acute myeloid leukemia or refractory anemia with excess blasts. Haematologica. 2003;88:733–766
  68. Freireich EJ, Cork A, Stass SA, et al. Cytogenetics for detection of minimal residual disease in acute myeloblastic leukemia. Leukemia. 1992;6:500–506
  69. Marcucci G, Mrozek K, Ruppert AS, et al. Abnormal cytogenetics at date of morphologic complete remission predicts short overall and disease-free survival, and higher relapse rate in adult acute myeloid leukemia: results from Cancer and Leukemia Group B Study 8461. J Clin Oncol. 2004;22:2410–2418
  70. Sievers EL, Lange BJ, Alonzo TA, et al. Immunophenotypic evidence of leukemia after induction therapy predicts relapse: results from a prospective Children's Cancer Group study of 252 patients with acute myeloid leukemia. Blood. 2003;101:3398–3406
  71. Baer MR, Stewart CC, Dodge RK, et al. High frequency of immunophenotype changes in acute myeloid leukemia at relapse: implications for residual disease detection (Cancer and Leukemia Group B Study 8361). Blood. 2001;97:3574–3580
  72. San Miguel JF, Vidriales MB, Lopez-Berges C, et al. Early immunophenotypical evaluation of minimal residual disease in acute myeloid leukemia identifies different patient risk groups and may contribute to postinduction treatment stratification. Blood. 2001;98:1746–1751
  73. Marcucci G, Caligiuri MA, Bloomfield CD. Core binding factor (CBF) acute myeloid leukemia: is molecular monitoring by RT-PCR useful clinically?. Eur J Haematol. 2003;71:143–154
  74. Raanani P, Ben-Bassat I. Detection of minimal residual disease in acute myelogenous leukemia. Acta Haematol. 2004;112:40–54
  75. Carbonell F, Swansbury J, Min T, et al. Cytogenetic findings in acute biphenotypic leukaemia. Leukemia. 1996;10:1283–1287
  76. Paietta E, Racevskis J, Bennett JM, et al. Biologic heterogeneity in Philadelphia chromosome–positive acute leukemia with myeloid morphology: the Eastern Cooperative Oncology Group experience. Leukemia. 1998;12:1881–1885
  77. Katsuno M, Yamashita S, Sadamura S, et al. Late-appearing Philadelphia chromosome in a patient with acute nonlymphocytic leukaemia derived from myelodysplastic syndrome: detection of P210- and P190-type bcr/abl fusion gene transcripts at the leukaemic stage. Br J Haematol. 1994;87:51–56
  78. Petrella T, Bagot M, Willemze R, et al. Blastic NK-cell lymphomas (agranular CD4+CD56+ hematodermic neoplasms): a review. Am J Clin Pathol. 2005;123:662–675
  79. Spiller SE, Hawkins DS, Finn LS, et al. Metastatic malignant melanoma presenting as pancytopenia in a three-year-old boy. Pediatr Blood Cancer. 2005;45:60–63
  80. Sandberg AA, Stone JF, Czarnecki L, et al. Hematologic masquerade of rhabdomyosarcoma. Am J Hematol. 2001;68:51–57
  81. Etcubanas E, Peiper S, Stass S, et al. Rhabdomyosarcoma, presenting as disseminated malignancy from an unknown primary site: a retrospective study of ten pediatric cases. Med Pediatr Oncol. 1989;17:39–44
  82. Barr FG. Molecular genetics and pathogenesis of rhabdomyosarcoma. J Pediatr Hematol Oncol. 1997;19:483–491
  83. Scrable HJ, Witte DP, Lampkin BC, et al. Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature. 1987;329:645–647
  84. Delattre O, Zucman J, Melot T, et al. The Ewing family of tumors—a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med. 1994;331:294–299
  85. Pasini F, Cetto GL, Pelosi G. Does bone marrow involvement affect prognosis in small-cell lung cancer?. Ann Oncol. 1998;9:247–250

PII: S1092-9134(05)00183-8

doi: 10.1016/j.anndiagpath.2005.10.001

Annals of Diagnostic Pathology
Volume 10, Issue 1 , Pages 39-65 , February 2006