The Principles of Clinical Cytogenetics - Extra Materials - Springer

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Cytogenetics of Hematologic Neoplasms 369 Table 1 (continued) Splenic marginal zone lymphoma Hairy cell leukemia Plasma cell neoplasms Plasma cell myeloma Plasmacytoma Solitary plasmacytoma of bone Monoclonal immunoglobulin deposition diseases Heavy-chain diseases Extranodal marginal zone B-cell lymphoma (MALT lymphoma) Nodal marginal zone B-cell lymphoma Follicular lymphoma Mantle cell lymphoma Diffuse large B-cell lymphoma Mediastinal (thymic) large B-cell lymphoma Intravascular large B-cell lymphoma Primary effusion lymphoma Burkitt lymphoma/leukemia Lymphomatoid granulomatosis Mature T-Cell and NK-Cell Neoplasms T-CelI prolymphocytic leukemia T-Cell large granular lymphocytic leukemia Aggressive NK-cell leukemia Adult T-cell leukemia/lymphoma Extranodal NK/T-cell lymphoma, nasal type Enteropathy-type T-cell lymphoma Hepatosplenic T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma Blastic NK-cell lymphoma Mycosis fungoides/Sézary syndrome Primary cutaneous CD-30 positive T-cell lymphoproliferative disorders Primary cutaneous anaplastic large cell lymphoma (C-ALCL) Lymphomatoid papulosis Borderline lesions Angioimmunoblastic T-cell lymphoma Peripheral T-cell lymphoma, unspecified Anaplastic large cell lymphoma Hodgkin’s Lymphoma Nodular lymphocyte predominant Hodgkin’s lymphoma Classical Hodgkin'slymphoma Nodular sclerosis Hodgkin'slymphoma Mixed cellular Hodgkin'slymphoma Lymphocyte-rich classical Hodgkin'slymphoma Lymphocyte-depleted Hodgkin'slymphoma Immunodeficiency-Associated Lymphoproliferative Disorders Lymphoproliferative diseases associated with primary immune disorders Human immunodeficiency virus-related lymphomas Posttransplant lymphoproliferative disorders Methotrexate-associated lymphoproliferative disorders Histiocytic and Dendritic Cell Neoplasms Histiocytic sarcoma Langerhans cell histiocytosis (continued)
370 Rizwan Naeem Table 1 (continued) Langerhans cell sarcoma Interdigitating dendritic cell sarcoma/tumor Follicular dendritic cell sarcoma/tumor Follicular dendritic cell sarcoma/tumor Dendritic cell sarcoma, not otherwise specified Mastocytosis Cutaneous mastocytosis Systemic mastocytis Mast cell sarcoma Extracutaneous mastocytoma ages of 50 and 59 years (8). In most cases, it is a triphasic disorder, starting with the chronic phase that, if left untreated, can proceed to a CML-accelerated phase and CML with blast crisis. This disorder is mainly of hematopoietic tissue in origin, involving primarily the blood, bone marrow, spleen, and liver, but during blast crisis, extramedullary tissues, including lymph nodes, skin, soft tissue, and sometimes the central nervous system, can be involved. The most common presenting features of CML are very mild to high white blood cell counts, fatigue, night sweats, and/or splenomegaly. In the WHO classification, the diagnostic criterion for CML is the unequivocal presence of a “Philadelphia” (Ph) rearrangement [t(9;22)(q34;q11.2), see Fig. 1t], involving the Breakpoint Cluster Region and Ableson oncogenes (BCR and ABL1) (4,12). See also Fig. 9 of Chapter 17. Approximately 90–95% of CML patients present with a Philadelphia rearrangement at the time of initial diagnosis. The presence of this rearrangement has been seen in all lineages of maturing cells; therefore, this is a true multilineage disease. The remaining 5–10% of CML cases without a classic Philadelphia rearrangement present in varying forms, either involving other chromosomes (a complex rearrangement) or, in some cases, a cryptic translocation involving BCR and ABL1. Therefore, the diagnostic criterion for CML is the unambiguous presence of the BCR/ABL1 translocation transcript (13). Variant translocations could implicate a third or fourth chromosome. Although the involvement of chromosome 9 or chromosome 22 might be hidden and at times the karyotype appears normal (“Ph-negative CML”), the hybrid BCR/ ABL1 gene is always present (otherwise, the disease is not CML). One of the proposed mechanisms of CML leukemogenesis is that “accidents” arise in a bone marrow stem cell during mitosis, producing the translocation between chromosomes 9 and 22, resulting in the BCR/ABL1 fusion gene. The normal ABL1 gene is transcribed into an mRNA of 6–7 kb, which produces a 145-kDa protein with tyrosine kinase activity. The hybrid BCR/ABL1 gene is transcribed into an mRNA of 8.5 kb, which produces a protein of 210 kDa, with a subsequent increase in protein kinase activity and halflife. In CML, the breakpoints in the BCR gene are almost always in the major breakpoint cluster region or M-BCR, involving exons 12–16. This is also known as a B1/B5 translocation and results in an abnormal chimeric protein known as p210, with increased tyrosine kinase activity. In a minority of cases, the breakpoint in the BCR gene can occur in a minor region (m-BCR), in exons 17–20. This translocation has also been known as translocation C1/C4, and in this case, an even larger chimeric protein, p230, is produced. Interestingly, patients with the chimeric protein p230 usually demonstrate prominent neutrophilic maturation. Another chimeric protein is noted in the minor breakpoint cluster regions, which results from the translocation involving BCR exons 1 and 2 and produces a shorter fusion protein, p190. This chimeric protein is most frequently associated with “Philadelphia-positive” acute lymphoblastic leukemia. A small number of p190 chimeric proteins or gene products can be detected in CML, which represents an alternative splicing mechanism in this disorder (14–16). This fusion product or chimeric protein permanently activates tyrosine kinase that is freed from normal regulation of its parent ABL1 kinase. The BCR/ABL1 fusion protein begins to excessively phosphorylate multiple cellular proteins, resulting in an altered expression profile of the stem cell.
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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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316 Linda Marie Randolph 116. Wang,
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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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