Immunoglobulin heavy variable (IGHV) genes and alleles: new entities, new names and implications for research and prognostication in chronic lymphocytic leukaemia

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Authors

XOCHELLI Aliki AGATHANGELIDIS Andreas KAVAKIOTIS Ioannis MINGA Evangelia SUTTON Lesley Ann BALIAKAS Panagiotis CHOUVARDA Ioanna GIUDICELLI Veronique VLAHAVAS Ioannis MAGLAVERAS Nikos BONELLO Lisa TRENTIN Livio TEDESCHI Alessandra PANAGIOTIDIS Panagiotis GEISLER Christian LANGERAK Anton W. POSPÍŠILOVÁ Šárka JELINEK Diane F. OSCIER David CHIORAZZI Nicholas DARZENTAS Nikos DAVI Fred GHIA Paolo ROSENQUIST Richard HADZIDIMITRIOU Anastasia BELESSI Chrysoula LEFRANC Marie-Paule STAMATOPOULOS Kostas

Year of publication 2015
Type Article in Periodical
Magazine / Source Immunogenetics
MU Faculty or unit

Central European Institute of Technology

Citation
Web http://download.springer.com/static/pdf/738/art%253A10.1007%252Fs00251-014-0812-3.pdf?originUrl=http%3A%2F%2Flink.springer.com%2Farticle%2F10.1007%2Fs00251-014-0812-3&token2=exp=1434953645~acl=%2Fstatic%2Fpdf%2F738%2Fart%25253A10.1007%25252Fs00251-014-08
Doi http://dx.doi.org/10.1007/s00251-014-0812-3
Field Oncology and hematology
Keywords CLL; SHM; New IGHV genes; New IGHV gene alleles; Prognostication
Attached files
Description Ieext generation sequencing studies in Homo sapiens have identified novel immunoglobulin heavy variable (IGHV) genes and alleles necessitating changes in the international ImMunoGeneTics information system (IMGT) GENE-DB and reference directories of IMGT/V-QUEST. In chronic lymphocytic leukaemia (CLL), the somatic hypermutation (SHM) status of the clonotypic rearranged IGHV gene is strongly associated with patient outcome. Correct determination of this parameter strictly depends on the comparison of the nucleotide sequence of the clonotypic rearranged IGHV gene with that of the closest germline counterpart. Consequently, changes in the reference directories could, in principle, affect the correct interpretation of the IGHV mutational status in CLL. To this end, we analyzed 8066 productive IG heavy chain (IGH) rearrangement sequences from our consortium both before and after the latest update of the IMGT/V-QUEST reference directory. Differences were identified in 405 cases (5 % of the cohort). In 291/405 sequences (71.9 %), changes concerned only the IGHV gene or allele name, whereas a change in the percent germline identity (%GI) was noted in 114/405 (28.1 %) sequences; in 50/114 (43.8 %) sequences, changes in the %GI led to a change in the mutational set. In conclusion, recent changes in the IMGT reference directories affected the interpretation of SHM in a sizeable number of IGH rearrangement sequences from CLL patients. This indicates that both physicians and researchers should consider a re-evaluation of IG sequence data, especially for those IGH rearrangement sequences that, up to date, have a GI close to 98 %, where caution is warranted.
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