The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Cytogenetics of Hematologic Neoplasms 367 or specific probe for disease monitoring and helps in identifying patients who could not be diagnosed by conventional means. Recurring chromosomal translocations are continuing to be identified, and the importance of this cannot be underestimated as scientists continue using these translocations to clone genes and find molecular targets for treatment options. In recent years, we have seen numerous approaches using microarray CGH or BAC CGH, cDNA, and expression array platforms to better define cancer and understand the biology of disease by looking at genomic and gene expression data. Yet, even after so much progress in this field, the cause of chromosome translocations that result in cancer remains one of the essential unanswered questions. For some translocations, in lymphoid tumors for example, the involvement of a recombinase enzyme seems fairly clear. For myeloid disorders, however, there is little evidence that recombinase has a role, and thus the focus is on other DNA sequences that might predispose to breaks, such as ALU and other repeat sequences, translin, and topoisomerase II (topo II) sites. The challenge for the future is to match our molecular genetic understanding with a functional understanding of the genes involved in translocations, the other oncogenes and tumor suppressor genes in normal cells, the genes that regulate them, and their downstream targets. This will provide a far more complete and robust understanding of the role that these genes play in growth and differentiation in normal and malignant cells (6). In the past, malignant leukemias and lymphomas were classified using various approaches: according to the clinical course, acute versus chronic, according to the primary site, and according to the phenotype by FAB classification. In 2001, WHO published its integrated classification, which is becoming a standard of classification throughout the world. In the WHO classifications, leukemias are primarily stratified into lineage specific types and then further characterized into clinically significant subgroups (7). The major disease categories according to the WHO classification are listed in Table 1. This chapter does not cover every disorder classified by WHO, but, rather, focuses on those for which at least some cytogenetic data is available. CHRONIC MYELOPROLIFERATIVE DISEASES (MPDS) There are many common and consistent, nonspecific chromosomal aberrations in this group of disorders. Correlation with morphology, flow cytometry, and other laboratory and clinical data is imperative to make the correct diagnosis. This group of patients needs immediate attention and aggressive treatment, and if untreated, could die within months of presentation. If properly diagnosed and treated, patients can survive for many years depending on the disease subtype. So far, aside from CML, no other category in this group of disorders has shown any specific genetic alteration; however, activation of tyrosine kinase signal transduction pathways is frequently implicated in their pathogenesis (8–10). Chronic Myelogenous Leukemia Chronic myelogenous leukemia (CML) is the paradigm of this category and is an excellent example of how genetic information and advancement in technology have contributed to the diagnosis, follow-up after treatment, and, finally, to the development of tailored medicine to treat genomic targets. This disorder is characterized by abnormal but effective hematopoiesis, resulting in the proliferation of mature cells, with high peripheral blood levels of one or more cell lines. Patients with CML often present with hepatosplenomegaly, which probably results from the high rate of sequestration of mature cells in these organs. The marrow is usually hypercellular, with mature cells and without dysplasia. The percentage of blasts is either normal or slightly increased (10%). Importantly, fibrosis is not a primary occurrence and is probably the result of abnormal production and release of cytokines and growth factors (7,8). Chronic myelogenous leukemia is defined as a qualitative disorder originating from two or more cell types with a multilineage phenotype. CML alone accounts for about 15–20% of all cases of leukemia. The disease can occur at any age, but the most common age of presentation is between the
368 Rizwan Naeem Table 1 Disease Categories According to WHO Classification Chronic Myeloproliferative Diseases (MPDs) Chronic myelogeneous leukemia Chronic neutrophilic leukemia Chronic eosinophilic leukemia and hypereosinophilic syndrome Polycythemia vera Chronic idiopathic myelofibrosis Essential thrombocythemia Myeloproliferative disease, unclassifiable Myelodysplastic/Myeloproliferative Diseases Chronic myelomonocytic leukemia (CMML) Atypical chronic myeloid leukemia (aCML) Juvenile myelomonocytic leukemia (JMML) Myelodysplastic/myeloproliferative diseases, unclassifiable Myelodysplastic Syndromes (MDSs) Refractory anemia (RA) Refractory anemia with ringed sideroblasts (RARS) Refractory cytopenia with multilineage dysplasia (RCMD) Refractory anemia (MDS) with excess blasts (RAEB) Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality (“5q– syndrome”) Myelodysplastic syndrome, unclassifiable Acute Myeloid Leukemia (AML) Acute myeloid leukemia with recurrent cytogenetic abnormalities AML with t(8;21)(q22;q22) AML1(CBFa)/ETO) (FAB M2) AML with inv(16)(p13q22) or t(16;16)(p13;q22), (CBFβ/MYH11) AML with t(15;17)(q22;q21) (PML/RARA and variants thereof) (FAB M3) AML with 11q23 (MLL) abnormalities Acute myeloid leukemia with multilineage dysplasia With prior myelodysplastic syndrome Without prior myelodysplastic syndrome Acute myeloid leukemia and myelodysplastic syndrome, therapy-related Alkylating agent related Topoisomerase II inhibitor related Acute myeloid leukemia not otherwise categorized AML, minimally differentiated AML without maturation AML with maturation Acute myelomonocytic leukemia (FAB M4) Acute monoblastic and monocytic leukemia (FAB M5) Acute erythroid leukemia (FAB M6) Acute megakaryoblastic leukemia (FAB M7) Acute basophilic leukemia Acute panmyelosis with myelofibrosis Myeloid sarcoma Acute leukemia of ambiguous lineage Precursor B- and T-Cell Neoplasms Precursor B-lymphoblastic leukemia/lymphoma Precursor T-lymphoblastic leukemia/lymphoma Mature B-Cell Neoplasms Chronic lymphocytic leukemia/small lymphocytic lymphoma B-Cell prolymphocytic leukemia Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia
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The Principles of Clinical Cytogene
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The Principles of Clinical Cytogene
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v Preface In the summer of 1989, on
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vii Preface to First Edition The st
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ix Contents Preface ...............
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Contributors SARAH HUTCHINGS CLARK,
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History of Clinical Cytogenetics 1
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4 Steven Gersen The hypotonic solut
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6 Steven Gersen marrow aspiration,
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8 Steven Gersen 9. Hsu, T.C. (1952)
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10 Martha Keagle Fig. 1. DNA struct
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12 Martha Keagle Fig. 3. Transcript
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14 Martha Keagle Fig. 5. Translatio
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16 Martha Keagle Fig. 7. The levels
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18 Martha Keagle single-copy DNA is
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20 Martha Keagle Fig. 10. Mitosis.
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22 Martha Keagle Fig. 11. Schematic
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24 Martha Keagle Fig. 13. Spermatog
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Human Chromosome Nomenclature 27 IN
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Human Chromosome Nomenclature 29 Fi
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Human Chromosome Nomenclature 33 Ta
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Human Chromosome Nomenclature 47 In
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Human Chromosome Nomenclature 49 Ma
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Human Chromosome Nomenclature 51 Un
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Human Chromosome Nomenclature 53 Ta
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Human Chromosome Nomenclature 55 46
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Human Chromosome Nomenclature 57 nu
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Basic Laboratory Procedures 59 II E
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Basic Laboratory Procedures 63 INTR
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Basic Laboratory Procedures 65 amni
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Basic Laboratory Procedures 67 Prep
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Basic Laboratory Procedures 69 Fig.
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Basic Laboratory Procedures 77 Lack
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Basic Laboratory Procedures 79 Once
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82 Christopher McAleer Fig. 1. Sche
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84 Christopher McAleer measurements
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86 Christopher McAleer allow light
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88 Christopher McAleer High-dry obj
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90 Christopher McAleer Fig. 3. Sche
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Quality Control and Quality Assuran
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Automation in the Cytogenetics Labo
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Autosomal Aneuploidy 131 III Clinic
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Autosomal Aneuploidy 133 INTRODUCTI
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135 Table 1 Parental and Meiotic/Mi
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Autosomal Aneuploidy 137 Fig. 2. Sc
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Autosomal Aneuploidy 139 forming ab
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Autosomal Aneuploidy 141 Fig. 5. Th
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Autosomal Aneuploidy 143 Fig. 6. Pr
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Autosomal Aneuploidy 145 Fig. 8. An
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Autosomal Aneuploidy 147 trisomies,
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Autosomal Aneuploidy 149 21 and ind
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Autosomal Aneuploidy 151 molecular
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Autosomal Aneuploidy 153 Fig. 10. T
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Autosomal Aneuploidy 155 This marke
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Autosomal Aneuploidy 157 47. Hawley
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Autosomal Aneuploidy 159 110. Lindo
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Autosomal Aneuploidy 161 171. Moghe
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Autosomal Aneuploidy 163 231. Reese
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Structural Chromosome Rearrangement
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177 Prader-Willi Paternal deletion
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179 Table 2 Some Recurring Duplicat
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Sex Chromosomes and Sex Chromosome
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Cytogenetics of Infertility 247 INT
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Cytogenetics of Infertility 249 Amo
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Cytogenetics of Infertility 251 Tab
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Cytogenetics of Infertility 253 gen
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255 Primary ciliary dyskinesia Auto
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Cytogenetics of Infertility 257 cha
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Cytogenetics of Infertility 259 Tab
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Cytogenetics of Infertility 261 Fig
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Cytogenetics of Infertility 263 rat
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Cytogenetics of Infertility 265 39.
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268 Linda Marie Randolph By 1986, m
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270 Linda Marie Randolph Table 1 Ch
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272 Linda Marie Randolph Table 4 Th
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274 Linda Marie Randolph Table 6 Fr
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276 Linda Marie Randolph rate of 14
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278 Table 8 Outcome in Early (11-14
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280 Linda Marie Randolph Table 9 Vo
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282 Linda Marie Randolph In 1995, O
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284 Linda Marie Randolph Fig. 1. Il
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286 Linda Marie Randolph reported c
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288 Linda Marie Randolph The underl
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290 Linda Marie Randolph Fig. 3. Ul
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296 Linda Marie Randolph Fig. 6. De
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298 Linda Marie Randolph Choroid Pl
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300 Linda Marie Randolph Table 13 C
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302 Linda Marie Randolph Table 14 U
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304 Linda Marie Randolph then that
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306 Table 15 Prenatal Results for R
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308 Linda Marie Randolph Table 17 O
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310 Linda Marie Randolph DNA marker
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312 Linda Marie Randolph XX and XY
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314 Linda Marie Randolph 54. Simpso
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Cytogenetics of Hematologic Neoplas
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Cytogenetics of Hematologic Neoplas
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Cytogenetics of Solid Tumors 421 IN
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423 Aytpical (see well-differentiat
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Cytogenetics of Solid Tumors 425 So
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Cytogenetics of Solid Tumors 427 ca
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Cytogenetics of Solid Tumors 429 do
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Cytogenetics of Solid Tumors 431 cl
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Cytogenetics of Solid Tumors 433 Fi
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Cytogenetics of Solid Tumors 439 no
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Cytogenetics of Solid Tumors 441 ch
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Cytogenetics of Solid Tumors 445 8.
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Cytogenetics of Solid Tumors 447 64
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454 Daynna Wolff and Stuart Schwart
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Fragile X 491 VI Beyond Chromosomes
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Fragile X 495 18 Fragile X From Cyt
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Fragile X 497 Fig. 1. Appearance of
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Fragile X 499 Table 4 Characteristi
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Fragile X 501 (KH domains) and clus
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Fragile X 503 have suggested differ
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Fragile X 505 The premutation form
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Fragile X 507 Table 4). FRAXE expan
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Fragile X 509 35. Heitz, D., Devys,
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Fragile X 511 93. Bennetto, L. and
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Fragile X 513 147. Oostra, B.A. and
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516 Jin-Chen Wang Fig. 1. Diagramma
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518 Jin-Chen Wang (50) and IGF2 (pa
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520 Jin-Chen Wang 3. Imprinting cer
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522 Jin-Chen Wang UNIPARENTAL DISOM
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524 Jin-Chen Wang Fig. 3. A diagram
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526 Jin-Chen Wang cause SRS (183).
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528 Jin-Chen Wang Studies comparing
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530 Jin-Chen Wang upd(21)pat Two ca
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532 Jin-Chen Wang 25. Ledbetter, D.
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534 Jin-Chen Wang 84. Bürger, J.,
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536 Jin-Chen Wang 138. Dryja, T.P.,
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538 Jin-Chen Wang 192. Karanjawala,
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540 Jin-Chen Wang 248. Creau-Goldbe
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542 Sarah Hutchings Clark condition
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544 Sarah Hutchings Clark the couns
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546 Sarah Hutchings Clark the coupl
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548 Sarah Hutchings Clark chromosom
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550 Sarah Hutchings Clark SMITH-MAG
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552 Sarah Hutchings Clark often at
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554 Sarah Hutchings Clark The relat
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556 Sarah Hutchings Clark Although,
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558 Sarah Hutchings Clark 33. Nicol
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560 Index Abnormalities, order of,
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562 Index Anus, imperforate, 310 AP
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564 Index CDK4, 394 CDK6, 396 CDKN2
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566 Index mosaicism, in amniotic fl
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568 Index Cutaneous anaplastic larg
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570 Index proximal 15q, 178, t179 p
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572 Index Folic acid pathway, 75 Fo
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574 Index Hereditary neuropathy wit
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576 Index Intrachromosomal recombin
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578 Index Male-specific region, Y c
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580 Index MTX, 76 Mucosa-associated
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582 Index Octamer, 14 Okazaki fragm
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584 Index Premature separation of s
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586 Index Recombinant chromosomes n
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588 Index Sézary syndrome (SS), t3
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590 Index t(4;14), 475 t(5;10), 375
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592 Index Treacher Collins syndrome
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594 Index Xq deletions, 225 Y trans
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596 Index XX males, 467, f468 and a
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