Use of IGK gene rearrangement analysis for clonality assessment of lymphoid malignancies: a single center experience

American Journal of Blood Research

Maria Antonella Laginestra¹  Giuseppe De Biase¹  Maria Rosaria Sapienza¹  Maura Rossi¹  Claudio Agostinelli¹  Pier Paolo Piccaluga¹  Claudia Mannu¹  Milena Piccioli¹  Luigi Chilli¹  Stefano A Pileri¹  Fernando Roncolato¹  Patrizia Artioli¹  Carlo Sagramoso¹  Francesco Bacci¹  Anna Gazzola¹  Simona Righi¹  Elena Sabattini¹  Antonio De Leo¹  Gianpaolo Da Pozzo¹  Federica Sandri¹ 

关键词: BIOMED-2;    molecular diagnostic;    IGK;    non Hodgkin lymphoma;    PCR;   

DOI  :  

学科分类：血液学

来源: e-Century Publishing Corporation

【 摘 要 】

Diagnosis of B-non Hodgkin lymphomas (NHLs) is based on clinical, morphological and immunohistochemi-cal features. However, in up to 10-15% of cases, analysis of immunoglobulin heavy (IGH) or light (IGK/IGL) chains genes is required to discriminate between malignant and reactive lymphoid proliferations. In this study, we evaluated the feasibility and efficiency of IGK analysis in the routine diagnostic of B-cell lymphoproliferative disorders (B-LD) when applied to formalin-fixed paraffin-embedded (FFPE) tissues. Clonality patterns were studied in 59 B-LD using the BIOMED-2 protocol for IGK assays, after failure of the IGH assay. PCR products were evaluated by both heterodu-plex and GeneScan analysis. IGK analysis was technically successful in all cases. Overall, it supported the histopa-thological suspicion in 52/59 cases (88%), the sensitivity and specificity being 83% and 80%, respectively. Further, positive and negative predictive values were 95% and 50%, respectively. Interestingly, among various lymphoma subtypes, marginal zone lymphoma and follicular lymphoma most frequently required IGK analysis. In conclusion, IGK study according to the BIOMED-2 protocol resulted feasible and extremely useful in supporting challenging diagnosis of B-LD even if applied on FFPE samples. Accordingly, when NHL is suspected, negative results at IGH analysis should not be considered as conclusive and further investigation of IGK is appropriate.

【 授权许可】

Unknown