Background: Genotyping is crucial to the identification of genetic markers underlying development of neoplastic T cell diseases and individual molecular monitoring of minimal residual disease. However, these methods need to fulfill the principles of analytical validation to determine their suitability to assess single point mutation in target genes.
Methods: This review outlines current knowledge of the genetics of various forms of ALCL and new genetic markers in ALK-negative ALCL frequently recurred in Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL). For the appropriate choice of any method, several criteria must be considered: i) known genetic variants in a given cancer gene; ii) diffusion and availability of large platforms and required equipment; iii) suitability of tests for routine diagnostics; iv) capacity of methods to offer a specific and sensitive detection of mutant alleles within great excess of wild-type alleles in a given sample; v) cost-effectiveness.
Conclusions: This review is intended to provide the reader with a better understanding of the various technologies available in the routine clinical laboratory for early detection of genetic markers of cancer T cell. Considerations about ways to most properly assess the analytical performance of these methods, are also given. Based on the criteria proposed here, lab managers, surgeons and clinicians may evaluate advantages and limitations of the different analytical platforms and possibly identify the most appropriate one according to specific operative settings for management of BIA-ALCL patients.