Cytogenetics, FISH and Molecular Testing in Hematologic by Wojciech Gorczyca

By Wojciech Gorczyca

Cytogenetics, fluorescence in situ hybridization (FISH) and molecular assessments, specially polymerase chain response (PCR), play an immense position within the administration of sufferers with hematologic malignancies via supporting to set up the analysis, in addition to are expecting diagnosis, reaction to remedy and disorder development. Chromosomal and molecular abnormalities give you the ideal standards for category of hematopoietic tumors and sometimes include the foundation for specific therapy.

Cytogenetics, FISH and Molecular checking out in Hematologic Malignancies, presents a overview of chromosomal and molecular adjustments in hematologic malignancies and correlates the karyotypic and genetic abnormalities with morphology, immunophenotype and scientific facts. With over a hundred and eighty figures and diagnostic algorithms, this article is key analyzing for all pathologists, hematopathologists, hematologic oncologists, cytogenetists, cytogenetic technologists and mobilephone biologists.

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6 determination of (a) cell origin, (b) degree of differentiation (maturation), and (c) prognosis. 6), automation, and protocols for antigen retrieval designed for formalin-fixed, paraffin-embedded tissues makes immunohistochemical techniques a common practice in everyday diagnostic surgical pathology. 6 CD antigens and other commonly used immunophenotypic markers – expression in hematopoietic tumors—cont’d Antibody Reactivity CD10 follicle center cells, follicular lymphoma, some diffuse large B-cell lymphomas, precursor B-ALL, precursor T-ALL, thymocytes, Burkitt’s lymphoma granulocytes, monocytes monocytes, hairy cell leukemia, large granular lymphocytes, activated T-cells, marginal zone B-cell lymphoma myeloid cells, rare precursor B-ALL Monocytes granulocytes, Hodgkin lymphoma (classical) granulocytes, NK-cells, large granular lymphocytes B-cells, precursor B-ALL, subset of AML [AML1/ETO with t(8;21)] B-cells, rare plasma cell myelomas B-cells B-SLL/CLL, plasma cells, follicular dendritic cells hairy cell leukemia, subset of B- and T-cell lymphomas Hodgkin lymphoma, anaplastic large cell lymphoma, subset of diffuse large B-cell lymphoma, subset of T-cell lymphomas (NOS), primary mediastinal B-cell lymphoma, lymphomatoid papulosis myeloid cells, rare precursor B-ALL, rare blastic NK-cell lymphomas myeloblasts, lymphoblasts, endothelial cells plasma cells, activated B- and T-cells, subset B-CLL/SLL, epithelial cells Megakaryocytes myeloid cells, T-cell lymphomas, precursor B- and T-cell leukemias, B-cell lymphoma (subset), plasma cells NK-cells, large granular lymphocytes, blastic NK-cell lymphoma/leukemia, monoblasts, subset plasma cell myelomas, rare B- and T-cell lymphomas NK-cells, large granular lymphocytes Megakaryocytes B-cells, plasma cells, megakaryocytes hairy cell leukemia, rare T-cell lymphomas AML, mast cells, stromal tumors (GIST), plasma cells hairy cell leukemia, subset of B-cell lymphomas B-cells, plasma cells, DLBCL with ALK expression (IgA) AML (except acute promyelocytic leukemia), B-cells, monocytes B-cells (surface), plasma cells (cytoplasmic) chains activated cells, plasma cells, subset of DLBCL, Hodgkin lymphoma B-cells, Hodgkin lymphoma, subset plasma cell myelomas precursor B-ALL, precursor T-ALL, some AML, hematogones T-cells, subset of B-CLL, NK-cells CD11b CD11c CD13 CD14 CD15 CD16 CD19 CD20 CD22 CD23 CD25 CD30 CD33 CD34 CD38 CD41 CD43 CD56 CD57 CD61 CD79a CD103 CD117 DBA-44 Heavy chains HLA-DR Light MUM1 PAX5 TdT ZAP-70 (CD45 positive), but also allows for specific and detailed subclassification of tumors (melanoma versus sarcoma, T- versus B-cell, small lymphocytic versus mantle cell, myeloid versus lymphoblastic).

G. 267,272–275 The del(13q) is detected more frequently by FISH than by metaphase cytogenetic. 10 shows monosomy 13 using a FISH probe. Rearrangements of 13q occur in non-CML CMPDs, including P. 277–284 del(17p)/monosomy 17 ● ● ● ● ● ● B-cell lymphomas T-cell lymphomas B-CLL MDS AML CML (disease progression/clonal evolution) Chromosome 17p is the site for p53 (TP53; see below). Loss of the short arm of chromosome 17 is associated with a p53 mutation on the remaining allele in several hematopoietic malignancies.

In a benign cell (without translocation), there are two fusion yellow signals indicating an intact gene (the probes are in close proximity, generating two yellow spots due to the overlap between the green and red fluorescence). In a cell with translocation, there will be one fusion yellow signal corresponding to a normal chromosome, but the second set of probes will be split, yielding one green and one red signal (indicating two derivative chromosomes). Commonly used BA probes in hematologic tumors include: MLL-BA (AML/ALL), CBFB-BA (AML), RARa-BA (acute promyelocytic leukemia; APL), MYC-BA (Burkitt lymphoma; BL), MALT1-BA (MALT lymphoma), ALK-BA (anaplastic large cell lymphoma; ALCL), and IGH-BA (lymphoma/MM).

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