Skip to main content Accessibility help
×
Hostname: page-component-84b7d79bbc-lrf7s Total loading time: 0 Render date: 2024-07-29T06:30:27.405Z Has data issue: false hasContentIssue false

10 - Chromosome abnormalities of hematologic malignancies

A practical guide to cytogenetic analysis

from Section 2 - Neoplastic hematopathology

Published online by Cambridge University Press:  03 May 2011

Katrin Carlson Leuer
Affiliation:
Northwestern University Feinberg School of Medicine
Maria A. Proytcheva
Affiliation:
Northwestern University Medical School, Illinois
Get access

Summary

Introduction

Chromosomes have attracted many microscopists not only because these sausage-like bodies represent vehicles of genetic material (and hence, are biologically important) but also because they are hypnotically beautiful objects [1].

Chromosomes have captured the interest of scientists for well over 150 years. Initial studies of chromosomes were conducted in plants as early as the mid 1850s. At this time, technical limitations in microscopy and cytogenetic methodology precluded much advancement in the field. The first positive association between a chromosome aberration and a human disorder was made in 1959 when Lejeune and colleagues described trisomy 21 in nine cases of Down syndrome [2]. The first time that a characteristic chromosome change was associated with a specific neoplasm came in 1960 when Nowell and Hungerford identified an abnormally small G-group chromosome [the Philadelphia chromosome number 1 (Ph1)] in cells from patients with chronic myelogenous leukemia [3]. Prior to 1971, identification of each individual chromosome was limited to segregation into seven groups, A through G, using chromosome size and centromere placement as the identifiers. Individual identification of each chromosome was made possible in 1971 by methods developed by Caspersson and colleagues [4]. Using chemical treatment and nuclear dyes, patterns of dark and light areas or “bands” could be visualized along the length of each chromosome.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Hsu, TC. Human and Mammalian Cytogenetics: An Historical Perspective (1st edn.). New York: Springer-Verlag; 1979.CrossRefGoogle Scholar
Lejeune, J, Gautier, M, Turpin, R. Study of somatic chromosomes from 9 mongoloid children. [Article in French.] Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences. 1959;248:1721–1722.Google ScholarPubMed
Nowell, PC, Hungerford, DA. A minute chromosome in human chronic granulocytic leukemia. Science. 1960;132:1497–1500.Google Scholar
Caspersson, T, Lomakka, G, Zech, L. The 24 fluorescence patterns of the human metaphase chromosomes – distinguishing characters and variability. Hereditas. 1971;67:89–102.CrossRefGoogle Scholar
Rowley, JD. A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973;243:290–292.CrossRefGoogle ScholarPubMed
Rowley, JD. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Annals of Genetics. 1973: 109–112.Google Scholar
Jaffe, ES, Harris, NL, Stein, H, Vardiman, J. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC Press; 2001.Google Scholar
Swerdlow, SH, Campo, E, Harris, NL, et al. (eds.). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (4th edn.). Lyon: IARC Press; 2008.Google Scholar
Barch, MJ, Knutsen, T, Spurbeck, JL (eds.). The AGT Cytogenetics Laboratory Manual (3rd edn.). Philadelphia, PA: Lippincott-Raven; 1991.Google Scholar
Shaffer, LG, Slovak, ML, Campbell, LJ (eds.). ISCN (2009): An International System for Human Cytogenetic Nomenclature. Basel: S. Karger; 2009.Google Scholar
Dewald, G, Wyatt, W, Silver, R. Atypical BCR and ABL D-FISH patterns in chronic myeloid leukemia and their possible role in therapy. Leukemia and Lymphoma. 1999;34:481–491.CrossRefGoogle ScholarPubMed
Herens, C, Tassin, F, Lemaire, V, et al. Deletion of the 5′-ABL region: a recurrent anomaly detected by fluorescence in situ hybridization in about 10% of Philadelphia-positive chronic myeloid leukaemia patients. British Journal of Haematology. 2000;110:214–216.CrossRefGoogle ScholarPubMed
Sinclair, PB, Nacheva, EP, Leversha, M, et al. Large deletions at the t(9;22) breakpoint are common and may identify a poor-prognosis subgroup of patients with chronic myeloid leukemia. Blood. 2000;95:738–743.Google Scholar
Heim, S, Mitelman, F (eds.). Cancer Cytogenetics. New York: JohnWiley & Sons, Inc.; 1995.Google Scholar
Johansson, B, Fioretos, T, Mitelman, F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematologica. 2002;107:76–94.CrossRefGoogle ScholarPubMed
Cools, J, DeAngelo, DJ, Gotlib, J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. New England Journal of Medicine. 2003;348:1201–1214.CrossRefGoogle ScholarPubMed
Rives, SMD, Alcorta, IMD, Toll, TMD, et al. Idiopathic hypereosinophilic syndrome in children: report of a 7-year-old boy with FIP1L1-PDGFRA rearrangement. Journal of Pediatric Hematology/Oncology. 2005;27:663–665.CrossRefGoogle ScholarPubMed
Bain, BJ, Fletcher, SH. Chronic eosinophilic leukemias and the myeloproliferative variant of the hypereosinophilic syndrome. Immunology and Allergy Clinics of North America. 2007;27:377–388.CrossRefGoogle ScholarPubMed
Golub, TR, Barker, GF, Lovett, M, Gilliland, DG. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell. 1994;77:307–316.CrossRefGoogle Scholar
Wittman, B, Horan, J, Baxter, J, et al. A 2-year-old with atypical CML with a t(5;12)(q33;p13) treated successfully with imatinib mesylate. Leukemia Research. 2004;28:65–69.CrossRefGoogle Scholar
Hall, G. Cytogenetic and molecular genetic aspects of childhood myeloproliferative/myelodysplastic disorders. Acta Haematologica. 2002;108:171–179.CrossRefGoogle ScholarPubMed
Hasle, H, Niemeyer, CM, Chessells, JM, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia. 2003;17:277–282.CrossRefGoogle ScholarPubMed
Mandel, K, Dror, Y, Poon, A, Freedman, MH. A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system. Journal of Pediatric Hematology/Oncology. 2002;24:596–605.CrossRefGoogle ScholarPubMed
Greenberg, P, Cox, C, LeBeau, MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079–2088.Google ScholarPubMed
Hasle, H, Baumann, I, Bergstrasser, E, et al. The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). Leukemia. 2004;18:2008–2014.CrossRefGoogle Scholar
Elghetany, M. Myelodysplastic syndromes in children: a critical review of issues in the diagnosis and classification of 887 cases from 13 published series. Archives of Pathology & Laboratory Medicine. 2007;131:1110–1116.Google ScholarPubMed
Martinez-Climent, JA, Garcia-Conde, J. Chromosomal rearrangements in childhood acute myeloid leukemia and myelodysplastic syndromes. Journal of Pediatric Hematology/Oncology. 1999;21:91–102.CrossRefGoogle ScholarPubMed
Passmore, SJ, Hann, IM, Stiller, CA, et al. Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood. 1995;85:1742–1750.Google Scholar
Grimwade, D, Walker, H, Oliver, F, et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. Blood. 1998;92:2322–2333.Google ScholarPubMed
Byrd, JC, Mrozek, K, Dodge, RK, et al. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood. 2002;100:4325–4336.CrossRefGoogle Scholar
Ravindranath, Y, Chang, M, Steuber, CP, et al. Pediatric Oncology Group (POG) studies of acute myeloid leukemia (AML): a review of four consecutive childhood AML trials conducted between 1981 and 2000. Leukemia. 2005;19:2101–2116.CrossRefGoogle ScholarPubMed
Balgobind, BV, Raimondi, SC, Harbott, J, et al. Novel prognostic subgroups in childhood 11q23/MLL-rearranged acute myeloid leukemia: results of an international retrospective study. Blood. 2009;114:2489–2496.CrossRefGoogle ScholarPubMed
Hasle, H, Clemmensen, IH, Mikkelsen, M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet. 2000;355:165–169.CrossRefGoogle ScholarPubMed
Massey, GV, Zipursky, A, Chang, MN, et al. A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood. 2006;107:4606–4613.CrossRefGoogle ScholarPubMed
Heerema, NA, Raimondi, SC, Anderson, JR, et al. Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes, Chromosomes and Cancer. 2007;46:684–693.CrossRefGoogle Scholar
Mertens, F, Johansson, B, Mitelman, F. Dichotomy of hyperdiploid acute lymphoblastic leukemia on the basis of the distribution of gained chromosomes. Cancer Genetics and Cytogenetics. 1996;92:8–10.CrossRefGoogle ScholarPubMed
Sutcliffe, MJ, Shuster, JJ, Sather, HN, et al. High concordance from independent studies by the Children's Cancer Group (CCG) and Pediatric Oncology Group (POG) associating favorable prognosis with combined trisomies 4, 10, and 17 in children with NCI standard-risk B-precursor acute lymphoblastic leukemia: a Children's Oncology Group (COG) initiative. Leukemia. 2005;19:734–740.CrossRefGoogle ScholarPubMed
Schultz, KR, Pullen, DJ, Sather, HN, et al. Risk- and response-based classification of childhood B-precursor acute lymphoblastic leukemia: a combined analysis of prognostic markers from the Pediatric Oncology Group (POG) and Children's Cancer Group (CCG). Blood. 2007;109:926–935.CrossRefGoogle Scholar
Charrin, C, Thomas, X, Ffrench, M, et al. A report from the LALA-94 and LALA-SA groups on hypodiploidy with 30 to 39 chromosomes and near-triploidy: 2 possible expressions of a sole entity conferring poor prognosis in adult acute lymphoblastic leukemia (ALL). Blood. 2004;104:2444–2451.CrossRefGoogle Scholar
Harrison, CJ, Moorman, AV, Broadfield, ZJ, et al. Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia. British Journal of Haematology. 2004;125:552–559.CrossRefGoogle ScholarPubMed
Raimondi, SP, Mauchauffe, M, Coniat, M, et al. The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. Blood. 1995;85:3662–3670.Google Scholar
Shurtleff, S, Buijs, A, Behm, F, et al. TEL/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis. Leukemia. 1995;9:1985–1989.Google Scholar
Attarbaschi, A, Mann, G, Konig, M, et al. Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia: an interphase FISH analysis. Leukemia. 2004;18:1611–1616.CrossRefGoogle ScholarPubMed
Robinson, HM, Broadfield, ZJ, Cheung, KL, et al. Amplification of AML1 in acute lymphoblastic leukemia is associated with a poor outcome. Leukemia. 2003;17:2249–2250.CrossRefGoogle ScholarPubMed
Harewood, L, Robinson, H, Harris, R, et al. Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases. Leukemia. 2003;17:547–553.CrossRefGoogle ScholarPubMed
Cooley, LD, Chenevert, S, Shuster, JJ, et al. Prognostic significance of cytogenetically detected chromosome 21 anomalies in childhood acute lymphoblastic leukemia: a Pediatric Oncology Group study. Cancer Genetics and Cytogenetics. 2007;175:117–124.CrossRefGoogle ScholarPubMed
Biondi, A, Cimino, G, Pieters, R, Pui, C-H. Biological and therapeutic aspects of infant leukemia. Blood. 2000;96:24–33.Google ScholarPubMed
Crist, W, Carroll, A, Shuster, J, et al. Philadelphia chromosome positive childhood acute lymphoblastic leukemia: clinical and cytogenetic characteristics and treatment outcome. A Pediatric Oncology Group study. Blood. 1990;76:489–494.Google ScholarPubMed
Russo, C, Carroll, A, Kohler, S, et al. Philadelphia chromosome and monosomy 7 in childhood acute lymphoblastic leukemia: a Pediatric Oncology Group study. Blood. 1991;77:1050–1056.Google ScholarPubMed
Schultz, KR, Bowman, WP, Aledo, A, et al. Improved early event-free survival with imatinib in Philadelphia chromosome-positive acute lymphoblastic leukemia: a Children's Oncology Group study. Journal of Clinical Oncology. 2009;27:5175–5181.CrossRefGoogle ScholarPubMed
Heerema, NA, Sather, HN, Sensel, MG, et al. Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group. Journal of Clinical Oncology. 1998;16:1270–1278.CrossRefGoogle ScholarPubMed
Raimondi, SC, Behm, FG, Roberson, PK, et al. Cytogenetics of childhood T-cell leukemia. Blood. 1988;72:1560–1566.Google ScholarPubMed
Moorman, AV, Richards, S, Harrison, CJ. Involvement of the MLL gene in T-lineage acute lymphoblastic leukemia. Blood. 2002;100:2273–2274.CrossRefGoogle ScholarPubMed
Rubnitz, JE, Camitta, BM, Mahmoud, H, et al. Childhood acute lymphoblastic leukemia with the MLL-ENL fusion and t(11;19)(q23;p13.3) translocation. Journal of Clinical Oncology. 1999;17:191–196.CrossRefGoogle Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×