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Uterine Cancer
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Claudia von Arx, Hani Gabra, Christina Fotopoulou
Type I and Type II EC have differing molecular profiles. Type I carcinomas are mainly characterized by silencing of the PTEN gene, genetic alteration in KRAS, PIK3CA, and β-catenin, and also MSI, whereas Type II serous carcinomas typically harbor TP53 mutations, inactivation of the p16 gene, low expression of E-cadherin and over-expression/amplification of Her2 in a defined subgroup.19 Molecular features of uterine clear cell carcinomas are still not well defined; however, mutations in the ARID1A gene appear to be a frequent event in this histological subgroup.20
Precision medicine in ovarian carcinoma
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Shailendra Dwivedi, Purvi Purohit, Radhieka Misra, Jeewan Ram Vishnoi, Apul Goel, Puneet Pareek, Sanjay Khattri, Praveen Sharma, Sanjeev Misra, Kamlesh Kumar Pant
Recently a study reported 11,479 somatic mutations in the 142 fresh TCGA cases. These mutations were manually reviewed, resulting in a total of 27,280 mutations in 429 cases. TP53, NF1, RB1, CDK12(CRKRS), and BRCA14, as well as the novel SMG, KRAS. BRCA2 and RB1CC1 were reported significantly associated. This group also identified 4 NRAS mutations; 3 NF2 mutations; and 3, 8, and 10 mutations in the identified tumor suppressor genes: ATR, ATM, and APC, respectively. Somatic truncation mutations were also detected in histone modifier genes including ARID1A, ARID1B, ARID2, SETD2, SETD4, SETD6, JARID1C, MLL, MLL2, and MLL3 as well as the DNA excision repair gene ERCC6 (Kanchi et al., 2014). Tables 8.1 and 8.2 have shown the various mutations as characterized by various researchers.
Ultrasound Features of Ovarian Malignancies
Published in Juan Luis Alcázar, Ultrasound Assessment in Gynecologic Oncology, 2018
Type I EOC accounts for 30% of all EOCs. This type includes low-grade serous carcinomas, low-grade endometrioid carcinomas, clear cell carcinomas, and mucinous carcinomas, as well as malignant transitional cell tumors. These tumors are indolent, are usually diagnosed in an early stage, and are characterized by specific mutations, such as k-RAS, PTEN, and ARID1A (4). Their origin seems to be the epithelium of the ovarian surface, and it seems there is a transition from a benign epithelium to a borderline lesion that turns into invasive cancer (6).
Novel biomarkers for cholangiocarcinoma: how can it enhance diagnosis, prognostication, and investigational drugs? Part-1
Published in Expert Opinion on Investigational Drugs, 2021
Ranu S Sinniah, Mark S Shapses, Mohammad Umar Ahmed, Hani Babiker, Sreenivasa R. Chandana
Chromatin-remodeling genes (BAP1, ARID1A, and PBRM1) are most frequently mutated in iCCA [25,26,38]. ARID1A and PBRM1 are members of the SWI/SNF chromatin-remodeling complex, responsible for nucleosome repositioning necessary for DNA repair and genomic stability [64]. Their mutations have been shown to occur late in the carcinogenesis of CCA and are suggested to be involved in metastasis [65,66]. Al-Shamsi et al. studied 22 patients with BAP1 mutation (20 iCCA and 2 eCCA). These patients had aggressive diseases, including bone metastasis (59%) and poor response to first-line chemotherapy [67]. As BAP1 interacts with BRCA1, aberrations in BAP1 in CCA could be sensitive to PARP inhibitors. There are several case reports utilizing PARP inhibitors in CCA patients with BAP1 mutations [68]. Histone modification and genes involved in chromatin-remodeling have shown significant relevance to CCA pathogenesis, providing novel targets to treat patients with individual characteristics.
Dramatic response to cyclin D–dependent kinase 4/6 inhibitor in refractory poorly differentiated neuroendocrine carcinoma of the breast
Published in Baylor University Medical Center Proceedings, 2018
Allison Shanks, Julia Choi, Vinit Karur
ESR1 mutations in breast cancer are related to metastasis, usually while on hormonal therapy.17,18 The ARID1A gene is a tumor suppressor gene, and an associated mutation or inactivation is reported in many cancers.19 Preclinical evidence shows that ARID1A inactivation may predict sensitivity to EZH2 inhibitors.20 Other studies have shown that ARID1A inactivation may relate to the PI3K-AKT pathway activation and therefore may portend sensitivity to drugs that inhibit this pathway.21 Primary breast neuroendocrine tumors are rare, and limited literature-based therapeutic options are available. Our patient was refractory to chemotherapy and endocrine treatment but had a good response to the combination of palbociclib and endocrine therapy. Further research into CDK4/6 inhibitors in the treatment of neuroendocrine breast cancer is warranted.
Prognostic biomarkers for cholangiocarcinoma and their clinical implications
Published in Expert Review of Anticancer Therapy, 2018
Charupong Saengboonmee, Kanlayanee Sawanyawisuth, Yaovalux Chamgramol, Sopit Wongkham
Eyes absent homolog 4 (EYA4), a member of the EYA gene family, was markedly down regulated in several malignancies. EYA4 mRNA and proteins were remarkably lower in iCCA tumor tissues compared with adjacent non-tumorous tissues [75]. Down regulation of EYA4 was associated with the increase of tumor numbers, local invasion, lymph node metastasis, tumor differentiation and shorter DFS and shorter OS time in iCCA patients who underwent curative hepatectomy. The tumor suppressor function of EYA4 was confirmed in vitro. The AT-rich interactive domain 1A (ARID1A) protein, a frequented mutated gene found in CCA, is related to the regulation of proliferation, DNA repair, development, differentiation, and tumor suppression [76]. A systematic review and meta-analysis of ARID1A in cancers indicated the loss of ARID1A related to short survival and to recurrence of cancers. ARID1A was also suggested to be an important potential target for personalized medicine in cancer treatment [77]. Both mRNA and protein levels of ARID1A were lower in iCCA tissues compared with the adjacent paracarcinomatous tissues and normal liver [78]. The low expression of tissue ARID1A was associated with a number of tumor nodules, venous invasion, and tumor recurrence, as well as with shorter OS and DFS of CCA patients. It was suggested that ARID1A might play a role as a tumor suppressor gene and be a favorable prognostic maker in CCA.