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Haploinsufficiency of UNC13D increases the risk of lymphoma
Umeå universitet, Medicinska fakulteten, Institutionen för klinisk mikrobiologi, Infektionssjukdomar.
Umeå universitet, Medicinska fakulteten, Enheten för biobanksforskning.ORCID-id: 0000-0003-1227-6859
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2019 (Engelska)Ingår i: Cancer, ISSN 0008-543X, E-ISSN 1097-0142, Vol. 125, nr 11, s. 1848-1854Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

BACKGROUND: Experimental models have demonstrated that immune surveillance by cytotoxic lymphocytes can protect from spontaneous neoplasms and cancer. In humans, defective lymphocyte cytotoxicity is associated with the development of hemophagocytic lymphohistiocytosis, a hyperinflammatory syndrome. However, to the best of the authors' knowledge, the degree to which human lymphocyte cytotoxicity protects from cancer remains unclear. In the current study, the authors examined the risk of lymphoma attributable to haploinsufficiency in a gene required for lymphocyte cytotoxicity.

METHODS: The authors exploited a founder effect of an UNC13D inversion, which abolishes Munc13-4 expression and causes hemophagocytic lymphohistiocytosis in an autosomal recessive manner. Within 2 epidemiological screening programs in northern Sweden, an area demonstrating a founder effect of this specific UNC13D mutation, all individuals with a diagnosis of lymphoma (487 patients) and matched controls (1844 controls) were assessed using polymerase chain reaction for carrier status.

RESULTS: Among 487 individuals with lymphoma, 15 (3.1%) were heterozygous carriers of the UNC13D inversion, compared with 18 controls (1.0%) (odds ratio, 3.0; P = .002). It is interesting to note that a higher risk of lymphoma was attributed to female carriers (odds ratio, 3.7; P = .004).

CONCLUSIONS: Establishing a high regional prevalence of the UNC13D inversion, the authors have reported an overrepresentation of this mutation in individuals with lymphoma. Therefore, the results of the current study indicate that haploinsufficiency of a gene required for lymphocyte cytotoxicity can predispose patients to lymphoma, suggesting the importance of cytotoxic lymphocyte-mediated surveillance of cancer. Furthermore, the results of the current study suggest that female carriers are more susceptible to lymphoma.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2019. Vol. 125, nr 11, s. 1848-1854
Nyckelord [en]
cancer, hemophagocytic lymphohistiocytosis, immune surveillance, lymphocyte cytotoxicity, lymphoma
Nationell ämneskategori
Cancer och onkologi
Identifikatorer
URN: urn:nbn:se:umu:diva-157884DOI: 10.1002/cncr.32011ISI: 000467473000015000467473000015PubMedID: 30758854Scopus ID: 2-s2.0-85061503911OAI: oai:DiVA.org:umu-157884DiVA, id: diva2:1302623
Tillgänglig från: 2019-04-05 Skapad: 2019-04-05 Senast uppdaterad: 2019-06-13Bibliografiskt granskad

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Ahlm, ClasBergdahl, Ingvar

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