Acute Leukemias - Republican Scientific Medical Library

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116 Chapter 7 · Acute Lymphoblastic Leukemia: Clinical Presentation, Diagnosis, and Classification CML presents in lymphoid blast crisis, distinction from Philadelphia chromosome positive ALL cannot be made based on immunophenotype, as the blasts are frequently precursor B lymphoblasts. In most cases the presence of a concurrent myeloid component to the leukemia will alert one to the correct diagnosis. If this were not present, lineage analysis showing the BCR/ABL fusion in myeloid as well as lymphoid cells has been suggested as a means to differentiate the stem cell process, CML, from the lymphoid-restricted process, ALL [40]. In some cases, only the emergence of a myeloid component after treatment can indicate the correct diagnosis. 7.3.5 Cytogenetic Evaluation Cytogenetic analysis of each patient’s ALL cells has become an essential component of diagnosis prior to treatment. It has furthered our understanding of leukemogenesis at a molecular level. Specific and well-characterized recurring chromosomal abnormalities facilitate diagnosis, confirm subtype classification, and have major prognostic value for treatment planning. Abnormalities in chromosome number or structure are found in approximately 90% of children and 70% of adult ALL patients [41]. These cytogenetic abnormalities are acquired somatic (rather than germline) mutations that frequently result from translocations of chromosomal DNA, resulting in new (abnormal) protein products from the resultant fusion genes. It is assumed that the protein products from these fusion genes are responsible for the cellular dysregulation that leads to the malignant state. Deletions or loss of DNA may eliminate genes that have tumor suppressor functions. Gains of additional chromosomes may lead to gene dosage effects that provide transformed cells with survival advantages. Conventional cytogenetic analysis requires dividing cells, is technically difficult, and can be time consuming due to the presence of multiple abnormal cell lines and complex chromosomal banding patterns. Therefore, alternative diagnostic methods have been sought, including fluorescence in situ hybridization (FISH), in which labeled probes are hybridized to either metaphase chromosomes or interphase nuclei and then detected with fluorochromes. This method of analysis is more rapid, and in some cases more sensitive, than conventional cytogenetic analysis. Additionally, FISH can be used to study differentiated or nondividing cells. 7.3.6 Molecular Evaluation Polymerase chain reaction (PCR) is an enzyme assay that provides a more sensitive and rapid method to detect clonal gene rearrangements. Translocations that result in fusion genes are especially suited for analysis with reverse transcriptase PCR (RT-PCR), a technique in which the fusion mRNA is reverse transcribed into cDNA, and then amplified by PCR using gene-specific primers. Quantitative RT-PCR allows for quantification of minimal residual disease (MRD). A number of large prospective studies in pediatric ALL have demonstrated the independent prognostic significance of MRD detection [42, 43]; less is known about the significance of MRD detection in adult ALL. 7.4 Conclusion In summary, the initial approach to the diagnosis of ALL still involves evaluation of the peripheral blood smear and bone marrow specimens with cytomorphology, immunohistochemistry, and cytogenetic analysis. Cytogenetic analysis is used to establish prognostically distinct subgroups of ALL. Through enhanced knowledge of the leukemogenic pathways involved in the different ALL subgroups, one can anticipate improved accuracy in diagnosis and prognosis, and ultimately, improved disease outcome for these patients. References 1. Hoelzer D, Gokbuget N (2000) Recent approaches in acute lymphoblastic leukemia in adults. Crit Rev Oncol Hematol 36(1):49–58 2. Farhi DC, Rosenthal NS (2000) Acute lymphoblastic leukemia. Clin Lab Med 20(1):17–28, vii 3. Groves FD, Linet MS, Devesa SS (1995) Patterns of occurrence of the leukaemias. Eur J Cancer 31A(6):941–949 4. Gur H, Koren V, Ehrenfeld M, Ben-Bassat I, Sidi Y (1999) Rheumatic manifestations preceding adult acute leukemia: Characteristics and implication in course and prognosis. Acta Haematol 101(1):1–6 5. Stoffel TJ, Nesbit ME, Levitt SH (1975) Extramedullary involvement of the testes in childhood leukemia. Cancer 35(4):1203–1211 6. Ferrando AA, Look AT (2000) Clinical implications of recurring chromosomal and associated molecular abnormalities in acute lymphoblastic leukemia. Semin Hematol 37(4):381–395 7. Mastrangelo R, Poplack D, Bleyer A, Riccardi R, Sather H, D’Angio G (1986) Report and recommendations of the Rome workshop concerning poor- prognosis acute lymphoblastic leukemia in chil-
a References 117 dren: Biologic bases for staging, stratification, and treatment. Med Pediatr Oncol 14(3):191–194 8. Mahmoud HH, Rivera GK, Jancock ML, Krance RA, Kun LE, Behm FG, Ribeiro RC, Sandlund JT, Crist WM, Pui CH (1993) Low leukocyte counts with blast cells in cerebrospinal fluid of children with newly diagnosed acute lymphoblastic leukemia. N Engl J Med 329:314–319 9. Tani E, Costa I, Svedmyr E, Skoog L (1995) Diagnosis of lymphoma, leukemia, and metastatic tumor involvement of the cerebrospinal fluid by cytology and immunocytochemistry. Diagn Cytopathol 12(1):14–22 10. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. (1976) Proposals for the classification of the acute leukaemias. French-American-British (FAB) Co-operative Group. Br J Haematol 33(4):451–458 11. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. (1981) The morphological classification of acute lymphoblastic leukaemia: Concordance among observers and clinical correlations. Br J Haematol 47(4):553–561 12. World Health Organization classification of tumours (2001) Pathology and genetics of tumours of haematopoietic and lymphoid tissues. IARC Press, Lyon 13. Lilleyman JS, Hann IM, Stevens RF, Richards SM, Eden OB (1988) Blast cell vacuoles in childhood lymphoblastic leukaemia. Br J Haematol 70(2):183–186 14. Al-Rubei K, Rose PE, Hill FG (1984) Morphological heterogeneity in childhood B cell acute lymphoblastic leukaemia. J Clin Pathol 37(12):1348–1352 15. Khalidi HS, Chang KL, Medeiros LJ, Brynes RK, Slovak ML, Murata- Collins JL, et al. (1999) Acute lymphoblastic leukemia. Survey of immunophenotype, French-American-British classification, frequency of myeloid antigen expression, and karyotypic abnormalities in 210 pediatric and adult cases. Am J Clin Pathol 111(4):467–476 16. Kim Y, Kang CS, Lee EJ, Kim WI, Shim SI, Kim SM, et al. (1998) Acute lymphoblastic leukemia with maturation7A new entity with clinical significance. Leukemia 12(6):875–881 17. Darbyshire PJ, Lilleyman JS (1987) Granular acute lymphoblastic leukaemia of childhood: A morphological phenomenon. J Clin Pathol 40(3):251–253 18. Schwarzinger I, Fodinger M, Scherrer R, Wolzt M, Mannhalter C, Speiser W (1993) Hypergranular acute lymphoblastic leukemia (ALL). Report of a case and review of the literature. Ann Hematol 67(6):301–303 19. Schumacher HR, Desai SN, McClain KL, Domenico DR, Dizikes GJ, Bird ML (1989) Acute lymphoblastic leukemia-hand mirror variant. Analysis for endogenous retroviral antibodies in bone marrow plasma. Am J Clin Pathol 91(4):410–416 20. Wegelius R (1986) Preleukaemic states in children. Scand J Haematol 45(Suppl):133–139 21. Wallis JP, Reid MM (1989) Bone marrow fibrosis in childhood acute lymphoblastic leukaemia. J Clin Pathol 42(12):1253–1254 22. Macfarlane SD, Tauro GP (1986) Acute lymphocytic leukemia in children presenting with bone marrow necrosis. Am J Hematol 22(4):341–346 23. Ribeiro RC, Pui CH, Schell MJ (1988) Vertebral compression fracture as a presenting feature of acute lymphoblastic leukemia in children. Cancer 61(3):589–592 24. Steinherz PG, Siegel SE, Bleyer WA, Kersey J, Chard R Jr, Coccia P, et al. (1991) Lymphomatous presentation of childhood acute lymphoblastic leukemia. A subgroup at high risk of early treatment failure. Cancer 68(4):751–758 25. Longacre TA, Foucar K, Crago S, Chen IM, Griffith B, Dressler L, et al. (1989) Hematogones: A multiparameter analysis of bone marrow precursor cells. Blood 73(2):543–552 26. Ott G, Kalla J, Ott MM, Schryen B, Katzenberger T, Muller JG, et al. (1997) Blastoid variants of mantle cell lymphoma: Frequent bcl-1 rearrangements at the major translocation cluster region and tetraploid chromosome clones. Blood 89(4):1421–1429 27. Huh YO, Ibrahim S (2000) Immunophenotypes in adult acute lymphocytic leukemia. Role of flow cytometry in diagnosis and monitoring of disease. Hematol Oncol Clin North Am 14(6): 1251–1265 28. Pileri SA, Ascani S, Milani M, Visani G, Piccioli M, Orcioni GF, et al. (1999) Acute leukaemia immunophenotyping in bone-marrow routine sections. Br J Haematol 105(2):394–401 29. Braylan RC, Orfao A, Borowitz MJ, Davis BH (2001) Optimal number of reagents required to evaluate hematolymphoid neoplasias: Results of an international consensus meeting. Cytometry 46(1): 23–27 30. Bain BJ, Barnett D, Linch D, Matutes E, Reilly JT (2002) Revised guideline on immunophenotyping in acute leukaemias and chronic lymphoproliferative disorders. Clin Lab Haematol 24(1): 1–13 31. Vasef MA, Brynes RK, Murata-Collins JL, Arber DA, Medeiros LJ (1998) Surface immunoglobulin light chain-positive acute lymphoblastic leukemia of FAB L1 or L2 type: A report of 6 cases in adults. Am J Clin Pathol 110(2):143–149 32. Gassmann W, Loffler H, Thiel E, Ludwig WD, Schwartz S, Haferlach T, et al. (1997) Morphological and cytochemical findings in 150 cases of T-lineage acute lymphoblastic leukaemia in adults. German Multicentre ALL Study Group (GMALL). Br J Haematol 97(2): 372–382 33. Czuczman MS, Dodge RK, Stewart CC, Frankel SR, Davey FR, Powell BL, et al. (1999) Value of immunophenotype in intensively treated adult acute lymphoblastic leukemia: Cancer and leukemia Group B study 8364. Blood 93(11):3931–3939 34. Hann IM, Richards SM, Eden OB, Hill FG (1998) Analysis of the immunophenotype of children treated on the Medical Research Council United Kingdom Acute Lymphoblastic Leukaemia Trial XI (MRC UKALLXI). Medical Research Council Childhood Leukaemia Working Party. Leukemia 12(8):1249–1255 35. Larson RA, Dodge RK, Burns CP, Lee EJ, Stone RM, Schulman P, et al. (1995) A five-drug remission induction regimen with intensive consolidation for adults with acute lymphoblastic leukemia: Cancer and leukemia group B study 8811. Blood 85(8):2025–2037 36. Matutes E, Morilla R, Farahat N, Carbonell F, Swansbury J, Dyer M, et al. (1997) Definition of acute biphenotypic leukemia. Haematologica 82(1):64–66 37. Arber DA, Snyder DS, Fine M, Dagis A, Niland J, Slovak ML (2001) Myeloperoxidase immunoreactivity in adult acute lymphoblastic leukemia. Am J Clin Pathol 116(1):25–33 38. Rimsza LM, Larson RS, Winter SS, Foucar K, Chong YY, Garner KW, et al. (2000) Benign hematogone-rich lymphoid proliferations can be distinguished from B-lineage acute lymphoblastic leukemia by integration of morphology, immunophenotype, adhesion mole
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E.H. Estey · S.H. Faderl · H. M.
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E. H. Estey Department of Leukemia
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VI Table of Contents 14 Philadelphi
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Therapy of AML Elihu Estey Contents
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Acute Myeloid Leukemia: Epidemiolog
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a References 55 38. Crane MM, Stom
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Relapsed and Refractory Acute Myelo
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Emergencies in Acute Lymphoblastic
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a 23.5 · Hyperleukocytosis 283 LA
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a References 287 29. Hingorani AD,
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Subject Index A aberrant methylatio
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a Subject Index 291 CREB, see enhan
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a Subject Index 293 MUD, see matche
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