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Consistent B Cell R...
Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia
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- Kolijn, P. Martijn (författare)
- Erasmus MC, Dept Immunol, Lab Med Immunol, Univ Med Ctr, Rotterdam, Netherlands.
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- Muggen, Alice F. (författare)
- Erasmus MC, Dept Immunol, Lab Med Immunol, Univ Med Ctr, Rotterdam, Netherlands.
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- Ljungström, Viktor, 1986- (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Experimentell och klinisk onkologi,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Solna, Sweden.
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- Agathangelidis, Andreas (författare)
- Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki, Greece.;Natl & Kapodistrian Univ Athens, Sch Sci, Dept Biol, Athens, Greece.
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- Wolvers-Tettero, Ingrid L. M. (författare)
- Erasmus MC, Dept Immunol, Lab Med Immunol, Univ Med Ctr, Rotterdam, Netherlands.
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- Beverloo, H. Berna (författare)
- Erasmus MC, Dept Clin Genet, Univ Med Ctr, Rotterdam, Netherlands.
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- Pal, Karol (författare)
- Masaryk Univ, CEITEC Cent European Inst Technol, Brno, Czech Republic.
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- Hengeveld, Paul J. (författare)
- Erasmus MC, Dept Immunol, Lab Med Immunol, Univ Med Ctr, Rotterdam, Netherlands.
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- Darzentas, Nikos (författare)
- Univ Hosp Schleswig Holstein, Dept Hematol, Kiel, Germany.
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- Hendriks, Rudi W. (författare)
- Erasmus MC, Dept Pulm Med, Univ Med Ctr, Rotterdam, Netherlands.
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- van Dongen, Jacques J. M. (författare)
- LUMC, Dept Immunol, Leiden, Netherlands.
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- Rosenquist, Richard (författare)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Karolinska Univ Lab, Dept Clin Genet, Solna, Sweden.
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- Langerak, Anton W. (författare)
- Erasmus MC, Dept Immunol, Lab Med Immunol, Univ Med Ctr, Rotterdam, Netherlands.
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Erasmus MC, Dept Immunol, Lab Med Immunol, Univ Med Ctr, Rotterdam, Netherlands Science for Life Laboratory, SciLifeLab (creator_code:org_t)
- 2021-08-26
- 2021
- Engelska.
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Ingår i: Frontiers in Oncology. - : Frontiers Media S.A.. - 2234-943X. ; 11
- Relaterad länk:
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https://doi.org/10.3...
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https://uu.diva-port... (primary) (Raw object)
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https://www.frontier...
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https://urn.kb.se/re...
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https://doi.org/10.3...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Key processes in the onset and evolution of chronic lymphocytic leukemia (CLL) are thought to include chronic (antigenic) activation of mature B cells through the B cell receptor (BcR), signals from the microenvironment, and acquisition of genetic alterations. Here we describe three families in which two or more siblings were affected by CLL. We investigated whether there are immunogenetic similarities in the leukemia-specific immunoglobulin heavy (IGH) and light (IGL/IGK) chain gene rearrangements of the siblings in each family. Furthermore, we performed array analysis to study if similarities in CLL-associated chromosomal aberrations are present within each family and screened for somatic mutations using paired tumor/normal whole-genome sequencing (WGS). In two families a consistent IGHV gene mutational status (one IGHV-unmutated, one IGHV-mutated) was observed. Intriguingly, the third family with four affected siblings was characterized by usage of the lambda IGLV3-21 gene, with the hallmark R110 mutation of the recently described clinically aggressive IGLV3-21(R110) subset. In this family, the CLL-specific rearrangements in two siblings could be assigned to either stereotyped subset #2 or the immunogenetically related subset #169, both of which belong to the broader IGLV3-21(R110) subgroup. Consistent patterns of cytogenetic aberrations were encountered in all three families. Furthermore, the CLL clones carried somatic mutations previously associated with IGHV mutational status, cytogenetic aberrations and stereotyped subsets, respectively. From these findings, we conclude that similarities in immunogenetic characteristics in familial CLL, in combination with genetic aberrations acquired, point towards shared underlying mechanisms behind CLL development within each family.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- CLL (Chronic Lymphocytic Leukemia)
- Familial CLL
- BCR stereotypy
- IGLV3-21 R110
- CLL development
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Kolijn, P. Marti ...
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Muggen, Alice F.
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Ljungström, Vikt ...
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Agathangelidis, ...
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Wolvers-Tettero, ...
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Beverloo, H. Ber ...
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Pal, Karol
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Hengeveld, Paul ...
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Darzentas, Nikos
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Hendriks, Rudi W ...
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van Dongen, Jacq ...
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Rosenquist, Rich ...
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Langerak, Anton ...
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Uppsala universitet
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Karolinska Institutet