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Molecular Testing in Hematologic Malignancies

  • Chapter
Molecular Testing in Cancer

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Abstract

Hematologic malignancies represent a diverse group of neoplastic conditions that arise from hematopoietic cells. Myeloid neoplasms represent clonal expansions of myeloid progenitors and are encompassed by myeloproliferative neoplasms, myelodysplastic syndromes, and acute myeloid leukemia. Similarly, lymphoid neoplasms are composed of clonal expansions of either precursor B/T or mature B/T lymphocytes of varying stages of differentiation. Importantly, the current World Health Organization Classification of Tumors of Hematopoietic and Lymphoid Tissues utilizes an integrated approach for incorporation of clinical, morphologic, and genetic features (WHO classification of tumours of haematopoietic and lymphoid tissues, Lyon, France, International Agency for Research on Cancer, 2008). The complex genetic abnormalities identified in these tumors have necessitated the transition from a single gene testing paradigm to that of multiple gene/panel testing or profiling. Moreover, rapid advances in the elucidation of genetic alterations of leukemias and lymphomas have highlighted the increasingly important role of molecular analysis in diagnosis, disease monitoring, and therapy. Continued advances will significantly impact the importance of molecular testing in the personalized management of patients with hematologic malignancies. In this chapter, we provide an updated summary of the application of the commonly used molecular testing approaches with a focus on practical aspects of molecular testing for myeloid and lymphoid malignancies.

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Abbreviations

ALK + ALCL:

Anaplastic large cell lymphoma ALK positive

ALL/LBL:

Lymphoblastic leukemia/lymphoma

AML:

Acute myeloid leukemia

APL:

Acute promyelocytic leukemia

ATRA:

All-trans retinoic acid

BL:

Burkitt lymphoma

bZIP:

Basic leucine zipper

CLL:

Chronic lymphocytic leukemia

CM:

Cutaneous mastocytosis

CML:

Chronic myelogenous leukemia

D:

Ig/TCR diversity region gene

DHL:

Double-hit lymphoma

DLBCL:

Diffuse large B-cell lymphoma

DSB:

Double-strand break

ET:

Essential thrombocythemia

FISH:

Fluorescence in situ hybridization

FL:

Follicular lymphoma

HCL:

Hairy cell leukemia

Ig:

Immunoglobulin

IS:

International scale

ITD:

Internal tandem duplication

J:

Ig/TCR joining region gene

LPL:

Lymphoplasmacytic lymphoma

MALT:

Mucosa-associated lymphoid tissue

M-bcr:

Major breakpoint region in BCR

m-bcr:

minor breakpoint region in BCR

μ-bcr:

micro breakpoint region in BCR

MCL:

Mantle cell lymphoma

MDS:

Myelodysplastic syndrome

MMR:

Major molecular response

MPN:

Myeloproliferative neoplasm

MRD:

Minimal residual disease

NPM1c+:

Cytoplasmic localization of NPM1 protein

PCM:

Plasma cell myeloma

PCR:

Polymerase chain reaction

Ph+:

Philadelphia chromosome positive

PMF:

Primary myelofibrosis

PV:

Polycythemia vera

RT-PCR:

Reverse transcription polymerase chain reaction

SM:

Systemic mastocytosis

SNP-A:

Single nucleotide polymorphism array

TCR:

T-cell receptor

TKD:

Tyrosine kinase domain

TKI:

Tyrosine kinase inhibitor

V:

Ig/TCR variable region gene

WHO:

World Health Organization

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  1. Department of Pathology, University of Michigan Medical School, M5242 Medical Science I, 1301 Catherine St, Ann Arbor, MI, 48109, USA

    Amir Behdad M.D., Bryan L. Betz Ph.D., Megan S. Lim M.D., Ph.D. & Nathanael G. Bailey M.D.

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  1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

    George M. Yousef

  2. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

    Serge Jothy

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Behdad, A., Betz, B.L., Lim, M.S., Bailey, N.G. (2014). Molecular Testing in Hematologic Malignancies. In: Yousef, G., Jothy, S. (eds) Molecular Testing in Cancer. Springer, New York, NY. https://doi.org/10.1007/978-1-4899-8050-2_10

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