Clonality testing in lymphoid malignancies has become technically relatively easy to perform in routine laboratories using standardized multiplex polymerase chain reaction protocols for Ig/T-cell receptor (TCR) gene analysis. Expertise with clonality diagnostics and knowledge about the biology of Ig/TCR recombination are essential for correct interpretation of the Ig/TCR clonality data. Several immunobiologic and technical pitfalls that should be taken into account to avoid misinterpretation of data are addressed in this review. Furthermore, the need to integrate the molecular data with that from (hemato-)pathology, and preferably also flowcytometric immunophenotyping for appropriate interpretation, is discussed. Such an interactive, multidisciplinary diagnostic model guarantees integration of all available data to reach the most reliable diagnosis.

GeneScan, Ig, PCR, TCR, clonality, heteroduplex
dx.doi.org/10.1517/17530059.1.4.451, hdl.handle.net/1765/37102
Expert Opinion on Medical Diagnostics
Erasmus MC: University Medical Center Rotterdam

Langerak, A.W, Groenen, P.J.T.A, van Krieken, J.H.J.M, & van Dongen, J.J.M. (2007). Immunoglobulin/T-cell receptor clonality diagnostics. Expert Opinion on Medical Diagnostics, 1(4), 451–461. doi:10.1517/17530059.1.4.451