Extragastrointestinal stromal tumor in a kidney transplant recipient

Tu, Hai‐Yan; Li, Qi; Cai, Jieru; Chen, Zhimin; Yang, Hao; Jiang, Hong; Mao, Yanfei; Shou, Zhangfei; Chen, Jianghua

doi:10.1007/s10157-011-0550-x

Cited by 8 publications

(6 citation statements)

References 18 publications

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“…No previous reports exist about this SNP in RCC. Its presence has been reported in rare cancers such as extra-intestinal stromal tumors and cervical adeno-squamous carcinoma, nevertheless its prognostic or predictive role remains largely unexplored [ 32 , 33 ]. In our series we could not confirm a variation in response to different PDGFR-inhibitors such as sunitinib or sorafenib based on the presence of this SNP.…”

Section: Discussionmentioning

confidence: 99%

Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma

et al. 2017

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Despite major advances in the knowledge of the molecular basis of renal cell carcinoma, prognosis is still defined using clinical and pathological parameters. Moreover, no valid predictive biomarkers exist to help us selecting the best treatment for each patient. With these premises, we aimed to analyse the expression and to determine the prognostic and predictive value of 64 key single nucleotide polymorphisms in 18 genes related with angiogenesis or metabolism of antiangiogenics in two cohorts of patients with localized and advanced renal cell cancer treated at our institution. The presence of the selected single nucleotide polymorphisms was correlated with clinical features, disease free survival, overall survival and response rate. In patients with localized renal cell cancer, 5 of these polymorphisms in 3 genes involved in angiogenesis predicted for worse disease free survival (VEGFR2: rs10013228; PDGFRA: rs2228230) or shorter overall survival (VEGFR2: rs10013228; VEGFR3: rs6877011, rs307826) (p < 0.05). Rs2071559 in VEGFR2 showed a protective effect (p = 0.01). In the advanced setting, 5 SNPs determined inferior overall survival (IL8: rs2227543, PRKAR1B: rs9800958, PDGFRB: rs2302273; p = 0.05) or worse response rate (VEGFA: rs699947, rs3025010 p ≤ 0.01)). Additionally 1 single nucleotide polymorphism in VEGFB predicted for better response rate rs594942 (p = 0.03). Genetic analysis of renal cell carcinoma patients might provide valuable prognostic/predictive information. A set of SNPs in genes critical to angiogenesis and metabolism of antiangiogenics drugs seem to determine post-surgical outcomes and treatment response in our series.

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Section: Discussionmentioning

confidence: 99%

Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma

et al. 2017

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“…The remaining three cases (10.34%, 3/29) were represented by a D842V point mutation on exon 18, associated with a lack of KIT expression, which was observed in 37.50% (3/8) of the CD117-negative cases. Tu et al (22) reported the case of a renal transplant recipient with a GIST, in which a Val824 internal GTC>GTT base point mutation was identified in PDGFRA with no KIT mutations present. This was the second report of this type of mutation, which coexisted with the L576P point mutation on exon 11.…”

Section: Discussionmentioning

confidence: 99%

Analysis of mutation of the c-Kit gene and PDGFRA in gastrointestinal stromal tumors

Lin

Wang

et al. 2015

Experimental and Therapeutic Medicine

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The aim of the present study was to investigate mutation status of the and in patients with a gastrointestinal stromal tumor (GIST). In total, 93 patients with a GIST were included in the study, in which polymerase chain reaction amplification and gene sequencing were used to detect the sequences of exons 9, 11, 13 and 17 in and exons 12 and 18 in. mutations were detected in 64 cases (68.82%), of which exon 11 mutations were detected in 56 cases (60.22%), exon 13 mutations were detected in three cases (3.23%) and one case (1.08%) was shown to have a mutation in exon 17. The most common mutation in exon 11 was a deletion, which accounted for 55.36% (31/56) of the cases, followed by a point mutation observed in 26.79% (15/56) of the cases, while an insertion (tandem repeats) was identified in 14.29% (8/56) of the cases, and 3.57% (2/56) of the exon 11 mutations were deletions associated with a point mutation. The majority of the mutations were heterozygous, with only a few homozygous mutations. Mutational analysis revealed the mutations to be more concentrated in the classic hot zone at the 5'-end, followed by the tandem repeat frame at the 3'-end. In four cases, a mutation was detected in exon 18 of, of which one was associated with a mutation in . The remaining three cases (10.34%, 3/29) were not associated with mutations in and accounted for 37.5% (3/8) of the CD117-negative GIST cases. Therefore, the majority of the GIST cases were characterized by mutations in or, which were directly associated with the disease. Pairs of different mutations in the same exon of , or mutations coupled with pairs of mutations in , were detected in a small number of patients. Imatinib is a small molecule tyrosine kinase inhibitor and is the first line targeted treatment for GIST, resulting in markedly improved survival rates. Thus, gene mutation genotyping may provide inspiration and guidance for imatinib-based targeted cancer therapy.

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“…Tu et al 9 presented a case of a rare extra-gastrointestinal stromal tumour (EGIST) located in the pelvic cavity of a patient with kidney transplantation. A 57-year-old woman was admitted due to non-specific abdominal pain 6 months after transplantation.…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal stromal tumour in a recipient with kidney transplantation

et al. 2015

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Immunosuppression is associated with an increased risk of post-transplant malignancies. Gastrointestinal stromal tumours are the most common mesenchymal tumours of the gastrointestinal tract. However, they have seldom been reported recipient with transplantation. In this report, a 46-year-old woman, a recipient with kidney transplantation, who developed a gastric tumour is presented. Removal of this tumour required a partial gastrectomy. Histopathology and immunohistochemistry examinations revealed a high-risk gastric stromal tumour. Adjuvant imatinib mesylate treatment was initiated. There was no evidence of tumour recurrence at 12-month follow-up.

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Extragastrointestinal stromal tumor in a kidney transplant recipient

Cited by 8 publications

References 18 publications

Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma

Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma

Analysis of mutation of the c-Kit gene and PDGFRA in gastrointestinal stromal tumors

Gastrointestinal stromal tumour in a recipient with kidney transplantation

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