uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki, Greece.
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki, Greece.
IRCCS San Raffaele Sci Inst, Div Immunol Transplantat & Infect, Milan, Italy.
Show others and affiliations
2018 (English)In: Journal of Visualized Experiments, ISSN 1940-087X, E-ISSN 1940-087X, no 141, article id e57787Article in journal (Refereed) Published
Abstract [en]

During B cell maturation, the complex process of immunoglobulin (IG) gene V(D)J recombination coupled with somatic hypermutation (SHM) gives rise to a unique DNA sequence within each individual B cell. Since B cell malignancies result from the clonal expansion of a single cell, IG genes represent a unique molecular signature common to all the malignant cells within an individual patient; thus, IG gene rearrangements can be used as clonal markers. In addition to serving as an important clonal identifier, the IG gene sequence can act as a 'molecular timeline' since it is associated with specific developmental stages and hence reflects the history of the B cell involved in the neoplastic transformation. Moreover, for certain malignancies, in particular chronic lymphocytic leukemia (CLL), the IG gene sequence holds prognostic and potentially predictive capabilities. That said, extrapolating meaningful conclusions from IG gene sequence analysis would be impossible if robust methods and tools were not available to aid in their analysis. This article, drawing on the vast experience of the European Research Initiative on CLL (ERIC), details the technical aspects and essential requirements necessary to ensure reliable and reproducible IG gene sequence analysis in CLL, a test that is now recommended for all CLL patients prior to treatment. More specifically, the various analytical stages are described ranging from the identification of the clonotypic IG gene rearrangement and the determination of the nucleotide sequence to the accurate clinical interpretation of the IG gene sequence data.

Place, publisher, year, edition, pages
JOURNAL OF VISUALIZED EXPERIMENTS , 2018. no 141, article id e57787
Keywords [en]
Cancer Research, Issue 141, Chronic lymphocytic leukemia (CLL), somatic hypermutation (SHM), immunoglobulin, immunoglobulin heavy variable (IGHV), complementarity determining region 3 (CDR3), International ImMunoGene Tics information system (IMGT)
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-376902DOI: 10.3791/57787ISI: 000456469400033PubMedID: 30531723OAI: oai:DiVA.org:uu-376902DiVA, id: diva2:1287797
Funder
Swedish Research CouncilKnut and Alice Wallenberg FoundationEU, Horizon 2020Swedish Cancer Society
Note

De två första författarna delar förstaförfattarskapet.

Available from: 2019-02-12 Created: 2019-02-12 Last updated: 2019-02-12Bibliographically approved

Open Access in DiVA

fulltext(989 kB)30 downloads
File information
File name FULLTEXT01.pdfFile size 989 kBChecksum SHA-512
7c1f5b612bc740909c4a28ef424e15a9416f36038a9674b9ae69145504adb0998bfec13d287143f66a21c55385e030c25dd0f9d2786d379a805c9c1250bc91f2
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Authority records BETA

Sutton, Lesley AnnRosenquist, RichardStamatopoulos, Kostas

Search in DiVA

By author/editor
Sutton, Lesley AnnRosenquist, RichardStamatopoulos, Kostas
By organisation
Science for Life Laboratory, SciLifeLabDepartment of Immunology, Genetics and Pathology
In the same journal
Journal of Visualized Experiments
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
Total: 30 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 253 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf