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Role of Molecular Genetics and Flow Cytometry Analysis in Cutaneous Hematopathology Including Application in Ten Disease Categories: Using Molecular and Immunophenotyping Techniques in Evaluation of Hyperplasia, Atypical Infiltrates, and Frank Lymphomas

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Cutaneous Hematopathology

Abstract

Neither morphology alone nor (molecular) clonality assays are at times sufficient to distinguish cutaneous lymphoma from atypical lymphoid hyperplasia or inflammation. In those instances, T-cell or B-cell clonality determined by PCR amplification of rearranged T-cell antigen receptor or immunoglobulin genes, respectively, is a useful method to more fully clarify the benign versus malignant nature of cutaneous lymphoproliferations but only in an adequate specimen. Analysis should include biopsy of a lesion in a manner to yield sufficient tissue for morphological, immunohistochemical, and molecular DNA/RNA assays. Additional flow cytometry, immunohistochemistry, and clinicopathologic criteria-based diagnosis enable a complete assessment as discussed in part I of this chapter. A complete workup should be integrated with histology and immunohistochemistry in collaboration with dermatologists, dermatopathologists, and hematopathologists using recommendations from the International Society for Cutaneous Lymphomas and World Health Organization. Although the EuroClonality consortium documents its application in only 5–15 % of all lymphoid neoplasms, we found about one-third of our consultation cases benefit from PCR clonality assays for T- and B-cell populations. Caution is warranted in interpreting the significance of clonality because of the underlying concept that neoplasms as a group may be a continuum spanning reactive dermatitis to atypical lymphoid proliferation or dyscrasia to malignant lymphoma. It should be emphasized that one benign diagnosis in a particular patient does not necessarily evolve to atypical hyperplasia followed by lymphoma. Multiple events required for malignant transformation may not occur for a particular patient. In this regard, we reinforce these concepts in part II in which we present ten examples within the spectrum of benign to malignant clonal skin lesions.

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Cualing, H.D., Kadin, M.E. (2014). Role of Molecular Genetics and Flow Cytometry Analysis in Cutaneous Hematopathology Including Application in Ten Disease Categories: Using Molecular and Immunophenotyping Techniques in Evaluation of Hyperplasia, Atypical Infiltrates, and Frank Lymphomas. In: Cualing, H., Kadin, M., Hoang, M., Morgan, M. (eds) Cutaneous Hematopathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0950-6_4

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