Identification of differential genetic mutations in squamous cell carcinoma of pancreas by using HTS after in-solution hybrid capture

Pancreatology ◽  
2016 ◽  
Vol 16 (4) ◽  
pp. S162
Author(s):  
Wei Li
Gland Surgery ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 1029-1037
Author(s):  
Wen-Xing Qin ◽  
Ying Wu ◽  
Jun Liu ◽  
Bao-Dong Qin ◽  
Ke Liu ◽  
...  

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Takafumi Watanabe ◽  
Hideaki Nanamiya ◽  
Manabu Kojima ◽  
Shinji Nomura ◽  
Shigenori Furukawa ◽  
...  

Abstract It is well known that tumour initiation and progression are primarily an accumulation of genetic mutations. The mutation status of a tumour may predict prognosis and enable better selection of targeted therapies. In the current study, we analysed a total of 55 surgical tumours from stage IB-IIB cervical cancer (CC) patients who had undergone radical hysterectomy including pelvic lymphadenectomy, using a cancer panel covering 50 highly mutated tumorigenesis-related genes. In 35 patients (63.6%), a total 52 mutations were detected (58.3% in squamous cell carcinoma, 73.7% in adenocarcinoma), mostly in PIK3CA (34.5%) and KRAS and TP53 (9.1%). Being mutation-positive was significantly correlated with pelvic lymph node (PLN) metastasis (P = 0.035) and tended to have a worse overall survival (P = 0.076). In particular, in the patients with squamous cell carcinoma, there was a significant association between being mutation-positive and relapse-free survival (P = 0.041). The patients with PLN metastasis had a significantly worse overall survival than those without (P = 0.006). These results indicate that somatic mutation status is a predictive biomarker for PLN metastasis in early-stage CC, and is consequently related to poor prognosis. Therefore, comprehensive genetic mutations, rather than a single genetic mutation, should be examined widely in order to identify novel genetic indicators with clinical usefulness.


2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S54-S54
Author(s):  
J Arshi ◽  
D Rao

Abstract Introduction/Objective Squamous cell carcinoma(SqCC) of Pancreas is a vanishingly rare neoplasm with dismal survival. Only a handful of cases are ever reported as pure SqCC reportedly accounts for <1% of malignancies of exocrine pancreas. Although, few theories have been proposed in an attempt to explain origin of this tumor including the possibility of (1)common progenitor cell and (2)squamous metaplasia, none have been proven with concrete evidence. Methods Here, we are presenting a case of squamous cell carcinoma of pancreas in a 33-year-old female who presented with 2-year history of right upper quadrant abdominal pain and a palpable mass. The imaging showed a multi-lobulated cystic mass encasing cystic duct, portal vein, and superior mesenteric artery. Results Grossly the mass was 5.2 cm in the greatest dimension. The mass revealed solid and cystic areas and was filled with hemorrhagic debris. On microscopy, the cyst wall was infiltrated by malignant neoplasm composed of irregular tongues and cords of malignant cells with nests of central keratinization. The tumor was consistent with squamous cell carcinoma. Foci of high grade cells with oval to spindled hyperchromatic nuclei, with many prominent nucleoli were also noted. There was no evidence of glandular component despite adequate sampling. The differential diagnoses of pancreatoblastoma and metastatic squamous cell carcinoma were considered and excluded. Conclusion SqCC of Pancreas is an exceedingly rare neoplasm of Pancreas. The diagnosis is made after extensive work up, adequate sampling and ruling out other common primary tumors and the possibility of metastasis. It usually follows an aggressive course with resistance to conventional neoadjuvant therapy. During the recent years, survival rates have shown some improvement with respectability and low to intermediate grade emerging as favorable prognostic factors. However, to further validate such findings noted in published case reports of this rare entity, collaborative studies with pooled data are deemed necessary.


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