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Leukemia and Lymphoma. Part II: Primary Cutaneous B-Cell Lymphoma and Other Non-MF/SS Hematopoietic Tumors

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Molecular Diagnostics for Dermatology

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Abstract

The diagnosis of cutaneous lymphoma remains one of the more challenging areas in dermatology and dermatopathology. The clinical and histopathologic features of lymphoma often mimic reactive inflammatory conditions, requiring integration of these data with immunohistochemistry and molecular analysis to achieve an accurate diagnosis. Molecular testing for clonality in lymphocytic infiltrates evaluates somatic recombination events at the TCR and Ig loci and has been used in various forms for several decades. The evolution of the gene rearrangement assay is proceeding as follows: Southern blot → standard PCR-based assay → high-throughput (next-gen) sequencing. Currently, PCR-based methods are the most commonly used. Regardless of method, clonality testing will never be usable as a stand-alone test for malignancy because clonal expansion is a normal biologic response by lymphocytes to antigen. Until new methods are developed to assess clonality in terms of oncogenic transformation, this multipronged diagnostic approach will be required.

As with other tumors, FISH, aCGH, microRNA expression profile analysis, and high-throughput sequencing are emerging as powerful tools for the evaluation of cutaneous lymphomas. These are not routinely used on clinical samples for cutaneous lymphoma but are rapidly being added to molecular diagnostic menus. In the near future, more and more laboratories are expected to offer these tests for diagnosis as well as for identifying biomarkers for predicting tumor behavior and predicting responses to newly developed targeted therapies. This chapter continues the discussion of the role of molecular diagnostics in the diagnosis and management of cutaneous leukemias and lymphomas. Primary cutaneous B-cell lymphomas are emphasized, and the Ig gene rearrangement assays are highlighted, but the (non-mycosis fungoides and Sézary syndrome) T-cell lymphomas, the hematopoietic tumors that may secondarily involve the skin, and their corresponding molecular testing applications are also discussed.

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Notes

  1. 1.

    The CPT codes are from 2014 listings and are provided for reference only, not as a billing guide [35]. Recommended codes may vary depending on molecular targets and testing methods. These are updated annually. A reference for physician fee schedules can be found at www.cms.gov.

  2. 2.

    The CPT codes are from 2014 listings and are provided for reference only, not as a billing guide [35]. Recommended codes may vary depending on molecular targets and testing methods. These are updated annually. A reference for physician fee schedules can be found at www.cms.gov.

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Authors and Affiliations

  1. Division of Dermatopathology, ProPath, Dallas, TX, USA

    Gregory A. Hosler M.D., Ph.D

  2. University of Texas Southwestern Medical School, Dallas, TX, USA

    Gregory A. Hosler M.D., Ph.D

  3. Clinical Laboratory Operations, ProPath, Dallas, TX, USA

    Kathleen M. Murphy Ph.D

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  1. Gregory A. Hosler M.D., Ph.D
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  2. Kathleen M. Murphy Ph.D
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Hosler, G.A., Murphy, K.M. (2014). Leukemia and Lymphoma. Part II: Primary Cutaneous B-Cell Lymphoma and Other Non-MF/SS Hematopoietic Tumors. In: Molecular Diagnostics for Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54066-0_7

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  • DOI: https://doi.org/10.1007/978-3-642-54066-0_7

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  • Online ISBN: 978-3-642-54066-0

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