scholarly journals Case report: BRAF-MAD1L1 and BRAF-ZC3H7A: novel gene fusion in Rhabdomyosarcoma and Lung adenocarcinoma

2020 ◽  
Author(s):  
Da Jiang ◽  
Hui Jin ◽  
Xinliang Zhou ◽  
Shaoshuang Fan ◽  
Mengping Lei ◽  
...  

Abstract BackgroundRhabdomyosarcoma (RMS) and lung adenocarcinoma (LADC) epitomizes the success of cancer prevention by the development of conventional therapy, but huge challenges remain in the therapy of advanced diseases. Case presentationWe reported two cases of novel BRAF gene fusion. The first case was a 34-year-old female with RMS harboring a BRAF-MAD1L1 fusion. She suffered tumor resection, recurrence and rapid progression. The second case was a 72-year-old female with LADC harboring a BRAF-ZC3H7A fusion, and she gained rapid progression after receiving a first-line course of chemotherapy. ConclusionsThese two BRAF fusions retain the intact BRAF kinase domain (exon 11-18) and showed poor prognosis in RMS and LADC.

2021 ◽  
Author(s):  
Jiang Da ◽  
Hui Jin ◽  
Xinliang Zhou ◽  
Shaoshuang Fan ◽  
Mian Xu ◽  
...  

Abstract Background: Rhabdomyosarcoma (RMS) and lung adenocarcinoma (LADC) epitomizes the success of cancer prevention by the development of conventional therapy, but huge challenges remain in the therapy of advanced diseases.Case presentation: We reported two cases of novel BRAF gene fusion. The first case was a 34-year-old female with RMS harboring a BRAF-MAD1L1 fusion. She suffered tumor resection, recurrence and rapid progression. The second case was a 72-year-old female with LADC harboring a BRAF-ZC3H7A fusion, and she gained rapid progression after receiving a first-line course of chemotherapy.Conclusions: These two BRAF fusions retain the intact BRAF kinase domain (exon 11-18) and showed poor prognosis in RMS and LADC.


2021 ◽  
Vol 12 ◽  
Author(s):  
Xiao Liu ◽  
Baozhen Ma ◽  
Tiepeng Li ◽  
Lingdi Zhao

Background: Afatinib has shown good efficacy in patients harboring uncommon EGFR mutations, but the incidence of afatinib-induced interstitial pneumonia should be alert as its rapid progression. Here, we report two cases of interstitial pneumonia during afatinib treatment.Case presentation: The first case was of a 58-year-old male with advanced lung adenocarcinoma (cT4bN3M1b) with exon 18 G719X and exon 20 S781I EGFR mutations and received afatinib therapy. After 68 days of therapy, he developed shortness of breath and fever. Drug-induced pneumonia was not diagnosed timely, the patient received empirical antibiotics and low-dose glucocorticoids. The pulmonary inflammation rapidly progressed and the patient died 15 days after symptom onset. The second case was of a 57-year-old man with stage IV (cT3N3M1b) lung adenocarcinoma with exon 21 L861Q EGFR mutation. He received afatinib as second-line therapy. Fever and shortness of breath occurred 22 days after afatinib therapy, he received empirical antibiotic therapy. Five days later, CT showed aggravated pulmonary inflammation, and afatinib-induced interstitial pneumonia was diagnosed. He received glucocorticoid therapy, and the pneumonia quickly improved.Conclusion: Although the incidence of EGFR-TKI-associated pneumonia is uncommon, high vigilance for drug-induced interstitial pneumonia is necessary during treatment. Early diagnosis and early glucocorticoid therapy could reverse lung injury.


Lung Cancer ◽  
2021 ◽  
Author(s):  
Pablo Moreno-Ruiz ◽  
Sara Corvigno ◽  
Nienke C. te Grootenhuis ◽  
Linnéa La Fleur ◽  
Max Backman ◽  
...  

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Yiqing Cai ◽  
Rui Feng ◽  
Tiange Lu ◽  
Xiaomin Chen ◽  
Xiangxiang Zhou ◽  
...  

AbstractN6-methyladenosine (m6A) is a prevalent internal RNA modification in higher eukaryotic cells. As the pivotal m6A regulator, RNA methyltransferase-like 3 (METTL3) is responsible for methyl group transfer in the progression of m6A modification. This epigenetic regulation contributes to the structure and functional regulation of RNA and further promotes tumorigenesis and tumor progression. Accumulating evidence has illustrated the pivotal roles of METTL3 in a variety of human cancers. Here, we systemically summarize the interaction between METTL3 and RNAs, and illustrate the multiple functions of METTL3 in human cancer. METLL3 is aberrantly expressed in a variety of tumors. Elevation of METTL3 is usually associated with rapid progression and poor prognosis of tumors. On the other hand, METTL3 may also function as a tumor suppressor in several cancers. Based on the tumor-promoting effect of METTL3, the possibility of applying METTL3 inhibitors is further discussed, which is expected to provide novel insights into antitumor therapy.


BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xuejun He ◽  
Jijun You ◽  
Haibing Ding ◽  
Zhisheng Zhang ◽  
Lin Cui ◽  
...  

Abstract Background Vascular mimicry (VM) was associated with the prognosis of cancers. The aim of the study was to explore the association between VM and anticancer therapy response in patients with lung adenocarcinoma. Methods This was a single-center retrospective study of patients with lung adenocarcinoma between March 1st, 2013, to April 1st, 2019, at the Second People’s Hospital of Taizhou City. All included patients were divided into the VM and no-VM groups according to whether VM was observed or not in the specimen. Vessels with positive PAS and negative CD34 staining were confirmed as VM. The main outcome was progression-free survival (PFS). Results Sixty-six (50.4%) patients were male. Eighty-one patients received chemotherapy as the first-line treatment, and 50 patients received TKIs. Forty-five (34.4%) patients were confirmed with VM. There was no difference regarding the first-line treatment between the VM and no-VM groups (P = 0.285). The 86 patients without VM had a median PFS of 279 (range, 90–1095) days, and 45 patients with VM had a median PFS of 167 (range, 90–369) days (P < 0.001). T stage (hazard ratio (HR) = 1.37, 95% confidence interval (CI): 1.10–1.71), N stage (HR = 1.43, 95%CI: 1.09–1.86), M stage (HR = 2.85, 95%CI: 1.76–4.61), differentiation (HR = 1.85, 95%CI: 1.29–2.65), therapy (HR = 0.32, 95%CI: 0.21–0.49), VM (HR = 2.12, 95%CI: 1.33–3.37), and ECOG (HR = 1.41, 95%CI: 1.09–1.84) were independently associated with PFS. Conclusion The benefits of first-line TKIs for NSCLC with EGFR mutation are possibly better than those of platinum-based regimens in patients without VM, but there is no difference in the benefit of chemotherapy or target therapy for VM-positive NSCLC harboring EGFR mutations.


2015 ◽  
Vol 86 (11) ◽  
pp. e4.113-e4
Author(s):  
Gauhar Abbas Malik ◽  
Yogish Joshi

BackgroundIdiopathic Intracranial Hypertension (IIH), is defined by increased cerebral spinal fluid (CSF) pressure in the absence of other causes of intracranial hypertension. There has been recent interest in the role of intracranial venous sinus stenosis in IIH. The raised pressures in IIH are argued to worsen by the secondary appearance of the venous sinus stenosis.Objective5 patients have undergone endovascular pressure measurement in Wales and their clinical details including history, examination, initial management, neuroimaging pre- and post venous stenting, and follow-up (6–24 months) to provide the first case study of patients undergoing Venous sinus stenting in Wales.Methods5 patients with IIH refractory to first line treatments underwent venography and manometry and 4 patients underwent stenting of the venous sinuses after this procedure had shown a pressure gradient proximal to stenosis in the lateral sinuses.ResultsThree patients were rendered asymptomatic, two were improved including one patient unmasking a different headache disorder following treatment.ConclusionsStenting in venous stenosis provides a further treatment option to patients refractory to first line treatments with IIH. This case series highlights in selected cases treatment is promising with good outcomes.


2018 ◽  
Vol 24 (8) ◽  
pp. 1347-1351 ◽  
Author(s):  
Ioannis Vathiotis ◽  
Evangelos P. Dimakakos ◽  
Paraskevi Boura ◽  
Angeliki Ntineri ◽  
Andiani Charpidou ◽  
...  

Venous thromboembolism (VTE) is a typical complication in patients with lung cancer. Khorana score is an established tool for thromboembolic risk stratification of ambulatory patients with cancer undergoing outpatient chemotherapy. The aim of this study was to evaluate the predictive value of the Khorana score for VTE and death in patients with lung adenocarcinoma during first-line or adjuvant chemotherapy. Medical records of 130 patients with lung adenocarcinoma receiving first-line or adjuvant chemotherapy were retrospectively studied during the time period June 2013 to May 2015. Venous thromboembolism occurred in 13 (10.0%) patients. Thromboembolic events were significantly correlated with reduced survival during treatment period (hazard ratio [HR]: 3.24; 95% confidence interval [CI]: 1.11-9.49; P = .032). The VTE rates did not present statistically significant difference between different Khorana score groups ( P = .96). In univariate analysis, the risk of death during treatment period (median: 16 weeks) was 3.75 times higher in high-risk versus intermediate-risk patients (HR: 3.75, 95% CI: 1.36-10.36; P = .001) and had 2.25 times higher per point increase in the Khorana score (HR: 2.25, 95% CI: 1.36-3.73; P = .002); the above results were also reproduced in multivariate analysis. Khorana score represents a valuable tool for identifying patients with cancer in low thromboembolic risk but does not preserve its predictive value for higher risk individuals. Khorana score is an independent risk factor for death in patients with lung adenocarcinoma receiving first-line or adjuvant chemotherapy.


2006 ◽  
Vol 130 (6) ◽  
pp. 1573-1581 ◽  
Author(s):  
Johanna Andersson ◽  
Per Bümming ◽  
Jeanne M. Meis–Kindblom ◽  
Harri Sihto ◽  
Nina Nupponen ◽  
...  

2021 ◽  
pp. 797-801
Author(s):  
Quang Tien Nguyen ◽  
Anh Tuan Pham ◽  
Thuy Thi Nguyen ◽  
Tam Thi Thanh Nguyen ◽  
Ky Van Le

Pulmonary angiosarcoma is a rare clinical entity with a poor prognosis and no established therapeutic strategies. We present the first case to our knowledge of metastatic pulmonary angiosarcoma, treated with checkpoint inhibitor immunotherapy, and have an excellent response. Until now, patient has been treated with immunotherapy for 1 year, and his disease is stable and well-tolerated.


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