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Söderkvist, Peter
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Publikasjoner (10 av 152) Visa alla publikasjoner
Bhattarai, S., Pandey, A. S., Bastakoti, S., Söderkvist, P. & Bhusal, M. (2020). A case of keratitis, ichthyosis, and deafness syndrome with rickets. JAAD case reports, 6(1), 9-12
Åpne denne publikasjonen i ny fane eller vindu >>A case of keratitis, ichthyosis, and deafness syndrome with rickets
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2020 (engelsk)Inngår i: JAAD case reports, ISSN 2352-5126, Vol. 6, nr 1, s. 9-12Artikkel i tidsskrift (Fagfellevurdert) Published
sted, utgiver, år, opplag, sider
Elsevier Inc., 2020
Emneord
connexin 26; ichthyosis and deafness syndrome; keratosis; rickets; systemic retinoids
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-164716 (URN)10.1016/j.jdcr.2019.10.024 (DOI)31890828 (PubMedID)
Tilgjengelig fra: 2020-03-29 Laget: 2020-03-29 Sist oppdatert: 2020-04-15
Malmström, A., Lysiak, M., Winther Kristensen, B., Hovey, E., Henriksson, R. & Söderkvist, P. (2020). Do we really know who has an MGMT methylated glioma?: Results of an international survey regarding use of MGMT analyses for glioma. Neuro-Oncology Practice, 7(1), 68-76
Åpne denne publikasjonen i ny fane eller vindu >>Do we really know who has an MGMT methylated glioma?: Results of an international survey regarding use of MGMT analyses for glioma
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2020 (engelsk)Inngår i: Neuro-Oncology Practice, ISSN 2054-2577, Vol. 7, nr 1, s. 68-76Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Glioma O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status informs clinical decision making. Worldwide different methods and cutoff levels are used, which can lead to discordant methylation results.We conducted an international survey to clarify which methods are regularly used and why. We also explored opinions regarding international consensus on methods and cutoff.The survey had 152 respondents from 25 countries. MGMT methylation status is determined for all glioblastomas in 37% of laboratories. The most common methods are methylation-specific polymerase chain reaction (msPCR) (37%) and pyrosequencing (34%). A method is selected for simplicity (56%), cost-effectiveness (50%), and reproducibility of results (52%). For sequencing, the number of CpG sites analyzed varies from 1–3 up to more than 16. For 50% of laboratories, the company producing the kit determines which CpG sites are examined, whereas 33% select the sites themselves. Selection of cutoff is equally distributed among a cutoff defined in the literature, by the local laboratory, or by the outside laboratory performing the analysis. This cutoff varies, reported from 1% to 30%, and in 1 laboratory tumor is determined as methylated in case of 1 methylated CpG site of 17 analyzed. Some report tumors as unmethylated or weakly vs highly methylated. An international consensus on MGMT methylation method and cutoff is warranted by 66% and 76% of respondents, respectively. The method preferred would be msPCR (45%) or pyrosequencing (42%), whereas 18% suggest next-generation sequencing.Although analysis of MGMT methylation status is routine, there is controversy regarding laboratory methods and cutoff level. Most respondents favor development of international consensus guidelines.

sted, utgiver, år, opplag, sider
Oxford: Oxford University Press, 2020
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-160808 (URN)10.1093/nop/npz039 (DOI)000518531400009 ()
Tilgjengelig fra: 2019-10-09 Laget: 2019-10-09 Sist oppdatert: 2020-04-21bibliografisk kontrollert
Dutta, R. K., Arnesen, T., Heie, A., Walz, M., Alesina, P., Söderkvist, P. & Gimm, O. (2019). A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma. European Journal of Endocrinology, 181(5), K37-K41
Åpne denne publikasjonen i ny fane eller vindu >>A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma
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2019 (engelsk)Inngår i: European Journal of Endocrinology, ISSN 0804-4643, E-ISSN 1479-683X, Vol. 181, nr 5, s. K37-K41Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Objective: To screen for CLCN2 mutations in apparently sporadic cases of aldosterone-producing adenomas (APAs). Description: Recently, CLCN2, encoding for the voltage-gated chloride channel protein 2 (CIC-2), was identified to be mutated in familial hyperaldosteronism II (FH II). So far, somatic mutations in CLCN2 have not been reported in sporadic cases of APAs. We screened 80 apparently sporadic APAs for mutations in CLCN2. One somatic mutation was identified at p.Gly24Asp in CLCN2. The male patient had a small adenoma in size but high aldosterone levels preoperatively. Postoperatively, the patient had normal aldosterone levels and was clinically cured. Conclusion: In this study, we identified a CLCN2 mutation in a sporadic APA comprising about 1% of all APAs investigated. This mutation was complementary to mutations in other susceptibility genes for sporadic APAs and may thus be a driving mutation in APA formation.

sted, utgiver, år, opplag, sider
BIOSCIENTIFICA LTD, 2019
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-162890 (URN)10.1530/EJE-19-0377 (DOI)000500254600004 ()31491746 (PubMedID)
Merknad

Funding Agencies|ALF Grants, Region Ostergotland; LiU cancer; Norwegian Cancer SocietyNorwegian Cancer Society; Western Norway Regional Health Authority (Helse Vest RHF)

Tilgjengelig fra: 2020-01-02 Laget: 2020-01-02 Sist oppdatert: 2020-04-30
Heenkenda, M. K., Malmström, A., Lysiak, M., Mudaisi, M., Bratthall, C., Milos, P., . . . Osman, A. (2019). Assessment of genetic and non-genetic risk factors for venous thromboembolism in glioblastoma - The predictive significance of B blood group. Thrombosis Research, 183, 136-142
Åpne denne publikasjonen i ny fane eller vindu >>Assessment of genetic and non-genetic risk factors for venous thromboembolism in glioblastoma - The predictive significance of B blood group
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2019 (engelsk)Inngår i: Thrombosis Research, ISSN 0049-3848, E-ISSN 1879-2472, Vol. 183, s. 136-142Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Introduction: Venous thromboembolism (VTE) is a common problem among patients with glioblastoma multi-forme (GBM) and with some other cancers. Here, we evaluated genetic and non-genetic potential risk factors for VTE among GBM patients. Materials and methods: A cohort of 139 patients treated with concomitant radiotherapy and temozolomide were included in the study. Next generation sequencing and genotyping approaches were applied to assess genetic risk factors in the haemostatic system. Clinical data including surgery, reoperation as well as blood group and patient information such as age and gender were available from patient records. Logistic regression analysis was performed to asses VTE risk. Results: In the study 47 patients (34%) were diagnosed for VTE during the course of their disease. When genetic and non-genetic potential risk factors were evaluated, only B blood group was found to be significantly associated with VTE incidence (odds ratio [OR] = 6.91; confidence interval [CI] = 2.19-24.14; P = 0.001). In contrast, A and O blood groups did not correlate with VTE risk. Frontal lobe tumor location also seemed to slightly increase VTE risk compared to other brain sites (OR = 3.14; CI = 1.1-10.7) although the significance level was at borderline (P = 0.05). Current study identified B blood group as the component in non-O blood groups that is responsible for increased VTE risk. Conclusion: In conclusion, these results suggest for the first time that B blood group is predictive for VTE incidence among patients with glioblastoma, information that may be potentially valuable when selecting GBM patients who are at risk for VTE for anticoagulant prophylaxis.

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PERGAMON-ELSEVIER SCIENCE LTD, 2019
Emneord
ABO blood groups; Glioblastoma; Sequence analysis; DNA; Surgery; Tumor location; Venous thromboembolism
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-162537 (URN)10.1016/j.thromres.2019.10.009 (DOI)000497805700024 ()31677594 (PubMedID)
Merknad

Funding Agencies|Medical Research Council of Southeast Sweden (FORSS); County Council of Region Ostergotland, Sweden

Tilgjengelig fra: 2019-12-09 Laget: 2019-12-09 Sist oppdatert: 2020-05-02
Zimdahl Kahlin, A., Helander, S., Skoglund, K., Söderkvist, P., Mårtensson, L.-G. & Lindqvist Appell, M. (2019). Comprehensive study of thiopurine methyltransferase genotype, phenotype, and genotype-phenotype discrepancies in Sweden. Biochemical Pharmacology, 164, 263-272
Åpne denne publikasjonen i ny fane eller vindu >>Comprehensive study of thiopurine methyltransferase genotype, phenotype, and genotype-phenotype discrepancies in Sweden
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2019 (engelsk)Inngår i: Biochemical Pharmacology, ISSN 0006-2952, E-ISSN 1356-1839, Vol. 164, s. 263-272Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Thiopurines are widely used in the treatment of leukemia and inflammatory bowel diseases. Thiopurine metabolism varies among individuals because of differences in the polymorphic enzyme thiopurine methyltransferase (TPMT, EC 2.1.1.67), and to avoid severe adverse reactions caused by incorrect dosing it is recommended that the patients TPMT status be determined before the start of thiopurine treatment. This study describes the concordance between genotyping for common TPMT alleles and phenotyping in a Swedish cohort of 12,663 patients sampled before or during thiopurine treatment. The concordance between TPMT genotype and enzyme activity was 94.5%. Compared to the genotype, the first measurement of TPMT enzyme activity was lower than expected for 4.6% of the patients. Sequencing of all coding regions of the TPMT gene in genotype/phenotype discrepant individuals led to the identification of rare and novel TPMT alleles. Fifteen individuals (0.1%) with rare or novel genotypes were identified, and three TPMT alleles (TPMT*42, *43, and *44) are characterized here for the first time. These 15 patients would not have been detected as carrying a deviating TPMT genotype if only genotyping of the most common TPMT variants had been performed. This study highlights the benefit of combining TPMT genotype and phenotype determination in routine testing. More accurate dose recommendations can be made, which might decrease the number of adverse reactions and treatment failures during thiopurine treatment.

sted, utgiver, år, opplag, sider
PERGAMON-ELSEVIER SCIENCE LTD, 2019
Emneord
Thiopurine; TPMT; Pharmacogenetics; Genotyping; Individualization
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-158047 (URN)10.1016/j.bcp.2019.04.020 (DOI)000469163900023 ()31005613 (PubMedID)
Merknad

Funding Agencies|Swedish Childrens Cancer Foundation; Medical Research Council of Southeast Sweden; Swedish Society of Medicine Linkoping; ostgOtaregionens cancerfond

Tilgjengelig fra: 2019-06-25 Laget: 2019-06-25 Sist oppdatert: 2020-05-02
Stenman, A., Svahn, F., Hojjat-Farsangi, M., Zedenius, J., Söderkvist, P., Gimm, O., . . . Juhlin, C. C. (2019). Molecular Profiling of Pheochromocytoma and Abdominal Paraganglioma Stratified by the PASS Algorithm Reveals Chromogranin B as Associated With Histologic Prediction of Malignant Behavior. American Journal of Surgical Pathology, 43(3), 409-421
Åpne denne publikasjonen i ny fane eller vindu >>Molecular Profiling of Pheochromocytoma and Abdominal Paraganglioma Stratified by the PASS Algorithm Reveals Chromogranin B as Associated With Histologic Prediction of Malignant Behavior
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2019 (engelsk)Inngår i: American Journal of Surgical Pathology, ISSN 0147-5185, E-ISSN 1532-0979, Vol. 43, nr 3, s. 409-421Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Pheochromocytomas (PCCs) and abdominal paragangliomas (PGLs), collectively abbreviated PPGL, are believed to exhibit malignant potential-but only subsets of cases will display full-blown malignant properties. The Pheochromocytoma of the Adrenal Gland Scaled Score (PASS) algorithm is a proposed histologic system to detect potential for aggressive behavior, but little is known regarding the coupling to underlying molecular genetics. In this study, a total of 92 PPGLs, previously characterized for susceptibility gene status and mRNA expressional profiles, were histologically assessed using the PASS criteria. A total of 32/92 PPGLs (35%) exhibited a PASS score amp;gt;= 4, including all 8 cases with malignant behavior (7 with known metastases and 1 with extensively infiltrative local recurrence). Statistical analyzes between expressional data and clinical parameters as well as individual PASS criteria yielded significant associations to Chromogranin B (CHGB), BRCA2, HIST1H3B, BUB1B, and RET to name a few, and CHGB had the strongest correlation to both PASS and metastasis/local recurrence of all analyzed genes. Evident CHGB downregulation was observed in PPGLs with high PASS and overtly malignant behavior, and was also associated with shorter disease-related survival. This finding was validated using quantitative real-time polymerase chain reaction, in which CHGB expression correlated with both PASS and metastasis/local recurrence with consistent findings obtained in the TCGA cohort. Moreover, immunohistochemical analyses of subsets of tumors showed a correlation between high PASS scores and negative or weak CHGB protein expression. Patients with PPGLs obtaining high PASS scores postoperatively, also exhibited low preoperative plasma levels of CHGB. These data collectively point out CHGB as a possible preoperative and postoperative marker for PPGLs with potential for aggressive behavior.

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LIPPINCOTT WILLIAMS & WILKINS, 2019
Emneord
pheochromocytoma; paraganglioma; malignancy; expressional profiling; CHGB
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-154987 (URN)10.1097/PAS.0000000000001190 (DOI)000459205400014 ()30451732 (PubMedID)
Merknad

Funding Agencies|Swedish Cancer Society; Cancer Research Funds of Radiumhemmet; Swedish Society for Medical Research; Stockholm County Council (ALF project); Karolinska Institutet

Tilgjengelig fra: 2019-03-20 Laget: 2019-03-20 Sist oppdatert: 2020-04-30
Welander, J., Lysiak, M., Brauckhoff, M., Brunaud, L., Söderkvist, P. & Gimm, O. (2018). Activating FGFR1 mutations in sporadic pheochromocytoma. World Journal of Surgery, 42(2), 482-489
Åpne denne publikasjonen i ny fane eller vindu >>Activating FGFR1 mutations in sporadic pheochromocytoma
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2018 (engelsk)Inngår i: World Journal of Surgery, ISSN 0364-2313, E-ISSN 1432-2323, Vol. 42, nr 2, s. 482-489Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Pheochromocytomas are neuroendocrine tumors of the adrenal glands that cause hypertension. More than a third of the cases are associated with hereditary mutations in a growing list of susceptibility genes, some of which are also somatically altered in sporadic pheochromocytomas. However, for the majority of sporadic pheochromocytomas, a genetic explanation is still lacking. Here we investigated the genomic landscape of sporadic pheochromocytomas with whole-exome sequencing of 16 paired tumor and normal DNA samples, and discovered on average 33 non-silent somatic mutations per tumor. One of the recurrently mutated genes was FGFR1, encoding the fibroblast growth factor receptor 1, which was recently revealed as an oncogene in pilocytic astrocytoma and childhood glioblastoma. Including a subsequent analysis of a larger cohort, activating FGFR1  mutations were detected in three of 80 sporadic pheochromocytomas (3.8%). Gene expression microarray profiling showed that these tumors clustered with NF1- RET- and HRAS-mutated pheochromocytomas, indicating activation of the MAPK and PI3K-AKT signal transduction pathways. The results advance our biological understanding of pheochromocytoma and suggest that somatic FGFR1 activation is an important event in a subset of these tumors.

sted, utgiver, år, opplag, sider
Springer, 2018
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-114805 (URN)10.1007/s00268-017-4320-0 (DOI)000419886700025 ()29159601 (PubMedID)
Merknad

Funding agencies: Linkoping University; Swedish Cancer Society; FORSS; LiU Cancer

Tilgjengelig fra: 2015-03-04 Laget: 2015-03-04 Sist oppdatert: 2019-05-03bibliografisk kontrollert
Alkaissi, H., Havarinasab, S., Nielsen, J. B., Söderkvist, P. & Hultman, P. (2018). Bank1 and NF-kappaB as key regulators in anti-nucleolar antibody development. PLoS ONE, 13(7), Article ID e0199979.
Åpne denne publikasjonen i ny fane eller vindu >>Bank1 and NF-kappaB as key regulators in anti-nucleolar antibody development
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2018 (engelsk)Inngår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 13, nr 7, artikkel-id e0199979Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Systemic autoimmune rheumatic disorders (SARD) represent important causes of morbidity and mortality in humans. The mechanisms triggering autoimmune responses are complex and involve a network of genetic factors. Mercury-induced autoimmunity (HgIA) in mice is an established model to study the mechanisms of the development of antinuclear antibodies (ANA), which is a hallmark in the diagnosis of SARD. A.SW mice with HgIA show a significantly higher titer of antinucleolar antibodies (ANoA) than the B10.S mice, although both share the same MHC class II (H-2). We applied a genome-wide association study (GWAS) to their Hg-exposed F2 offspring to investigate the non-MHC genes involved in the development of ANoA. Quantitative trait locus (QTL) analysis showed a peak logarithm of odds ratio (LOD) score of 3.05 on chromosome 3. Microsatellites were used for haplotyping, and fine mapping was conducted with next generation sequencing. The candidate genes Bank1 (B-cell scaffold protein with ankyrin repeats 1) and Nfkbl (nuclear factor kappa B subunit 1) were identified by additional QTL analysis. Expression of the Bank1 and Nfkb1 genes and their downstream target genes involved in the intracellular pathway (Tlr9,II6, Tnf) was investigated in mercury-exposed A.SW and B10.S mice by real-time PCR. Bank1 showed significantly lower gene expression in the A.SW strain after Hg-exposure, whereas the B10.S strain showed no significant difference. Nfkb1, Tlr9, II6 and Tnf had significantly higher gene expression in the A.SW strain after Hg-exposure, while the B10.S strain showed no difference. This study supports the roles of Bank1 (produced mainly in B-cells) and Nfkbl (produced in most immune cells) as key regulators of ANoA development in HgIA.

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PUBLIC LIBRARY SCIENCE, 2018
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-150265 (URN)10.1371/journal.pone.0199979 (DOI)000438866600014 ()30016332 (PubMedID)
Merknad

Funding Agencies|Swedish Research Council Branch of Medicine; County Council of Ostergotland; Linkoping University

Tilgjengelig fra: 2018-08-17 Laget: 2018-08-17 Sist oppdatert: 2019-04-24
Paulsson, J. O., Svahn, F., Welander, J., Brunaud, L., Söderkvist, P., Gimm, O., . . . Juhlin, C. C. (2016). Editorial Material: Absence of the BRAF V600E mutation in pheochromocytoma in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, vol 39, issue 6, pp 715-716. Journal of Endocrinological Investigation, 39(6), 715-716
Åpne denne publikasjonen i ny fane eller vindu >>Editorial Material: Absence of the BRAF V600E mutation in pheochromocytoma in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, vol 39, issue 6, pp 715-716
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2016 (engelsk)Inngår i: Journal of Endocrinological Investigation, ISSN 0391-4097, E-ISSN 1720-8386, Vol. 39, nr 6, s. 715-716Artikkel i tidsskrift, Editorial material (Annet vitenskapelig) Published
Abstract [en]

Purpose Pheochromocytomas (PCCs) are rare endocrine tumors originating from the adrenal medulla. These tumors display a highly heterogeneous mutation profile, and a substantial part of the causative genetic events remains to be explained. Recent studies have reported presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. This study sought to further investigate the occurrence of the BRAF V600E mutation in these tumors. Methods A cohort of 110 PCCs was screened for the BRAF V600E mutation using direct Sanger sequencing. Results All cases investigated displayed wild-type sequences at nucleotide 1799 in the BRAF gene. Conclusions Taken together with all previously screened tumors up to date, only 1 BRAF V600E mutation has been found among 361 PCCs. These findings imply that the BRAF V600E mutation is a rare event in pheochromocytoma.

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SPRINGER, 2016
Emneord
Adrenal; Pheochromocytoma; Sequencing; BRAF; Mutation
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-129146 (URN)10.1007/s40618-015-0420-6 (DOI)000375920000013 ()26710756 (PubMedID)
Tilgjengelig fra: 2016-06-13 Laget: 2016-06-13 Sist oppdatert: 2018-04-25
Stenman, A., Welander, J., Gustavsson, I., Brunaud, L., Backdahl, M., Söderkvist, P., . . . Larsson, C. (2016). HRAS mutation prevalence and associated expression patterns in pheochromocytoma. Genes, Chromosomes and Cancer, 55(5), 452-459
Åpne denne publikasjonen i ny fane eller vindu >>HRAS mutation prevalence and associated expression patterns in pheochromocytoma
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2016 (engelsk)Inngår i: Genes, Chromosomes and Cancer, ISSN 1045-2257, E-ISSN 1098-2264, Vol. 55, nr 5, s. 452-459Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Pheochromocytomas (PCC) and abdominal paragangliomas (PGL) display a highly diverse genetic background and recent gene expression profiling studies have shown that PCC and PGL (together PPGL) alter either kinase signaling pathways or the pseudo-hypoxia response pathway dependent of the genetic composition. Recurrent mutations in the Harvey rat sarcoma viral oncogene homolog (HRAS) have recently been verified in sporadic PPGLs. In order to further establish the HRAS mutation frequency and to characterize the associated expression profiles of HRAS mutated tumors, 156 PPGLs for exon 2 and 3 hotspot mutations in the HRAS gene was screened, and compared with microarray-based gene expression profiles for 93 of the cases. The activating HRAS mutations G13R, Q61R, and Q61K were found in 10/142 PCC (7.0%) and a Q61L mutation was revealed in 1/14 PGL (7.1%). All HRAS mutated cases included in the mRNA expression profiling grouped in Cluster 2, and 21 transcripts were identified as altered when comparing the mutated tumors with 91 HRAS wild-type PPGL. Somatic HRAS mutations were not revealed in cases with known PPGL susceptibility gene mutations and all HRAS mutated cases were benign. The HRAS mutation prevalence of all PPGL published up to date is 5.2% (49/950), and 8.8% (48/548) among cases without a known PPGL susceptibility gene mutation. The findings support a role of HRAS mutations as a somatic driver event in benign PPGL without other known susceptibility gene mutations. HRAS mutated PPGL cluster together with NF1- and RET-mutated tumors associated with activation of kinase-signaling pathways.

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WILEY-BLACKWELL, 2016
HSV kategori
Identifikatorer
urn:nbn:se:liu:diva-127407 (URN)10.1002/gcc.22347 (DOI)000372913800005 ()26773571 (PubMedID)
Merknad

Funding Agencies|Swedish Cancer Foundation; StratCan; Swedish Research Council; Cancer Research Foundations of Radiumhemmet; Karolinska Institutet; Stockholm County Council

Tilgjengelig fra: 2016-05-02 Laget: 2016-04-26 Sist oppdatert: 2018-04-25
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