Mutation associated with Fanconi anemia pathway may increase patients’ second primary malignancy risk: Results from somatic and germline testing of clear cell papillary renal cell carcinoma

2021 ◽  
Vol 79 ◽  
pp. S980
Author(s):  
X. Tian ◽  
A. Aihetaimujiang ◽  
Y.Y. Qu ◽  
H.L. Zhang ◽  
D.W. Ye
2021 ◽  
Vol 27 ◽  
Author(s):  
Xi Tian ◽  
Wen-Hao Xu ◽  
Jun-Long Wu ◽  
Hua-Lei Gan ◽  
Hong-Kai Wang ◽  
...  

Traditionally, clear cell papillary renal cell carcinoma (ccpRCC) was considered to share similar molecular and histological characteristics with clear cell renal cell carcinoma (ccRCC) and papillary renal cell carcinoma (pRCC). Here we aimed to identify somatic and germline variants of ccpRCC. For this purpose, we conducted whole-exome sequencing to detect somatic variants in the tissues of 18 patients with pathologically confirmed ccpRCC, who underwent surgical treatment at Fudan University Shanghai Cancer Center. Targeted sequencing was conducted to detect germline variants in paired tumor or normal tissues or blood. Somatic and germline variants of ccRCC and Renal cell carcinoma included in The Cancer Genome Atlas data and other published data were analyzed as well. The molecular profiles of ccpRCC, ccRCC and pRCC were compared. Among the 387 somatic variants identified, TCEB1 (3/18) and VHL (3/18) variants occurred at the highest frequencies. Germline mutation detection showed that nine variants associated with Fanconi anemia (VAFAs) pathway (FANCA, 6/18; FANCI, 3/18) were identified in 18 ccpRCC patients. Among ccpRCC patients with VAFAs, five out of eight patients had second primary malignancy or family history of cancer. Somatic variants characteristics may distinguish ccpRCC from ccRCC or pRCC and germline VAFAs may be a molecular characterization of ccpRCC. Compared with ccRCC or pRCC, ccpRCC patients may be significantly correlated with higher risk of developing second primary malignancy.


2020 ◽  
Vol 7 (9) ◽  
pp. 3152
Author(s):  
Shruti Chaturvedi ◽  
Boopathi Subbarayan ◽  
Saravanakumar Subbaraj ◽  
Tirou Aroul Tirougnanassambandamourty ◽  
Samuel Robinson Smile

Synchronous occurrence of primary gastric cancer with primary renal cell carcinoma (RCC) is exceedingly rare. We report a case of a 70 years old gentleman who presented with a history of epigastric fullness and tarry stools from 1 month, along with significant weight loss which he was unable to quantify. Esophagogastroduodenoscopy showed ulceroproliferative growth in the antropyloric region of stomach causing complete outlet obstruction. Histopathology revealed poorly differentiated mucinous adenocarcinoma. Contrast enhanced computed tomography (CECT) abdomen showed an asymmetrical circumferential growth in the antropyloric region leading to obstruction. A heterogeneously enhancing hypervascular mass was also visualized over the lower pole of left kidney with an initial impression of metastasis. A concomitant radical subtotal gastrectomy and radical left nephrectomy was performed. Pathological examination confirmed gastric adenocarcinoma (T4a) and renal cell carcinoma-RCC (T3a). Most of the operable synchronously occurring second primary malignancy (SPM) can be resected in a single stage.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Fei Meng ◽  
Luojin Zhang ◽  
Mingjun Zhang ◽  
Kaiqin Ye ◽  
Wei Guo ◽  
...  

Abstract Background BCL2L13 belongs to the BCL2 super family, with its protein product exhibits capacity of apoptosis-mediating in diversified cell lines. Previous studies have shown that BCL2L13 has functional consequence in several tumor types, including ALL and GBM, however, its function in kidney cancer remains as yet unclearly. Methods Multiple web-based portals were employed to analyze the effect of BCL2L13 in kidney cancer using the data from TCGA database. Functional enrichment analysis and hubs of BCL2L13 co-expressed genes in clear cell renal cell carcinoma (ccRCC) and papillary renal cell carcinoma (pRCC) were carried out on Cytoscape. Evaluation of BCL2L13 protein level was accomplished through immunohistochemistry on paraffin embedded renal cancer tissue sections. Western blotting and flow cytometry were implemented to further analyze the pro-apoptotic function of BCL2L13 in ccRCC cell line 786-0. Results BCL2L13 expression is significantly decreased in ccRCC and pRCC patients, however, mutations and copy number alterations are rarely observed. The poor prognosis of ccRCC that derived from down-regulated BCL2L13 is independent of patients’ gender or tumor grade. Furthermore, BCL2L13 only weakly correlates with the genes that mutated in kidney cancer or the genes that associated with inherited kidney cancer predisposing syndrome, while actively correlates with SLC25A4. As a downstream effector of BCL2L13 in its pro-apoptotic pathway, SLC25A4 is found as one of the hub genes that involved in the physiological function of BCL2L13 in kidney cancer tissues. Conclusions Down-regulation of BCL2L13 renders poor prognosis in ccRCC and pRCC. This disadvantageous factor is independent of any well-known kidney cancer related genes, so BCL2L13 can be used as an effective indicator for prognostic evaluation of renal cell carcinoma.


2021 ◽  
Author(s):  
Sofia Canete-Portillo ◽  
Maria del Carmen Rodriguez Pena ◽  
Dezhi Wang ◽  
Diego F. Sanchez ◽  
George J. Netto ◽  
...  

2006 ◽  
Vol 175 (4S) ◽  
pp. 239-239
Author(s):  
Borje Ljungberg ◽  
Jan Jacobsen ◽  
Stina Häggström Rudolfsson ◽  
Gudrun Lindh ◽  
Kjell Grankvist ◽  
...  

2011 ◽  
Vol 7 (6) ◽  
pp. 261-268 ◽  
Author(s):  
S.G.C. Kroeze ◽  
A.M. Bijenhof ◽  
J.L.H.R. Bosch ◽  
J.J.M. Jans

In Vivo ◽  
2019 ◽  
Vol 33 (4) ◽  
pp. 1103-1108 ◽  
Author(s):  
HYUN MIN KOH ◽  
HYO JUNG AN ◽  
GYUNG HYUCK KO ◽  
JEONG HEE LEE ◽  
JONG SIL LEE ◽  
...  

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