BRAF-MAD1L1 and BRAF-ZC3H7A: novel gene fusion in Rhabdomyosarcoma and Lung adenocarcinoma

2021 ◽  
Author(s):  
Jiang Da ◽  
Hui Jin ◽  
Xinliang Zhou ◽  
Shaoshuang Fan ◽  
Mian Xu ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Gene Fusion ◽  
Tumor Resection ◽  
Kinase Domain ◽  
Rapid Progression ◽  
First Line ◽  
Case Presentation ◽  
First Case ◽  
Exon 11 ◽  
Domain Exon

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.

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 ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Poor Prognosis ◽  
Gene Fusion ◽  
Tumor Resection ◽  
Kinase Domain ◽  
Rapid Progression ◽  
First Line ◽  
First Case ◽  
Exon 11 ◽  
Domain Exon

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.

scholarly journals Case Report: Afatinib-Induced Interstitial Pneumonia: Experiences and Lessons From Two Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiao Liu ◽  
Baozhen Ma ◽  
Tiepeng Li ◽  
Lingdi Zhao
Keyword(s):  
Lung Adenocarcinoma ◽  
Interstitial Pneumonia ◽  
Pulmonary Inflammation ◽  
Stage Iv ◽  
Glucocorticoid Therapy ◽  
Rapid Progression ◽  
Shortness Of Breath ◽  
Drug Induced ◽  
First Case ◽  
Days Of Therapy

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.

scholarly journals Neuroendocrine tumor arising from the greater omentum treated with laparoscopic tumor resection: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Taichi Terai ◽  
Kenji Nakagawa ◽  
Kota Nakamura ◽  
Shunsuke Doi ◽  
Kohei Morita ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Histopathological Examination ◽  
Tumor Resection ◽  
Ventral Side ◽  
Greater Omentum ◽  
Preoperative Imaging ◽  
Ki 67 ◽  
Case Presentation ◽  
First Case ◽  
Omental Tumor

Abstract Background Primary omental tumors are extremely rare. Herein, we report the first case of a primary omental neuroendocrine tumor (NET). Case presentation A 59-year-old woman was referred to our hospital for the treatment of an 18-mm tumor located at the ventral side of the duodenum. No other tumor was detected. The preoperative imaging diagnosis was omental tumor. A laparoscopic tumor resection was performed. Histopathological examination revealed that the tumor consisted of cuboidal cells with eosinophilic, granular cytoplasm showing trabecular or ribbon architecture. No other component was seen. The mitotic count was of 5 per 10 high-power fields. Immunohistochemical staining was positive for chromogranin A, synaptophysin, and CD56. Her Ki-67 index was 5%. These results led to the diagnosis of grade 2 omental NET. The patient was discharged on the 3rd postoperative day without any complications and did not develop any recurrence for 3 years. Conclusions We encountered a very rare case of omental NET. Complete resection is recommended with minimally invasive surgery for the diagnosis of NET.

scholarly journals Refractory Craniopharyngioma: Successful Treatment with LINAC Based Stereotactic Radio surgery (SRS): First Case in Nepal

2021 ◽  
Author(s):  
Subhash Thakur ◽  
Birendra Yadav ◽  
Karthik Nagamuthu ◽  
Saloni Chawla ◽  
Amit Dubey
Keyword(s):  
Adjuvant Radiotherapy ◽  
Tumor Volume ◽  
Benign Tumor ◽  
Complete Resection ◽  
Subtotal Resection ◽  
Safe Procedure ◽  
First Line ◽  
Case Presentation ◽  
Non Invasive ◽  
First Case

Abstract Purpose: To present first case of refractory craniopharyngioma treated successfully with SRS in Nepal. Background: Craniopharyngioma is a benign tumor, which progresses slowly and compresses the pituitary gland and nearby structures. First line of treatment is surgery followed by adjuvant radiotherapy as complete resection is usually not feasible. Here, we are reporting a case of recurrent craniopharyngioma treated with LINAC based SRS. Case Presentation: A 43 years old man diagnosed case of craniopharyngioma in May 2019. He underwent left pterional craniotomy and subtotal resection of tumor and kept on observation. He developed symptomatic as well as radiological recurrence in July 2020. Second debulking was not possible, so we did SRS on 23rd August 2020; 14Gy Dose was delivered to gross tumor volume. Six months after SRS, Patient is doing well.Conclusions: LINAC based SRS is a frameless, non-invasive and safe procedure with excellent clinical outcomes for recurrent or residual craniopharyngioma.

scholarly journals Refractory Craniopharyngioma: Successful Treatment with LINAC Based Stereotactic Radiosurgery (SRS): First Case in Nepal

2021 ◽  
Vol 6 (4) ◽  
pp. 529-531
Author(s):  
Subhash Thakur ◽  
Saloni Chawla
Keyword(s):  
Adjuvant Radiotherapy ◽  
Tumour Volume ◽  
Complete Resection ◽  
Subtotal Resection ◽  
Safe Procedure ◽  
Gross Tumour Volume ◽  
First Line ◽  
Case Presentation ◽  
Non Invasive ◽  
First Case

Purpose: To present first case of refractory craniopharyngioma treated successfully with SRS in Nepal. Bckground: Craniopharyngioma is a benign tumour, which progresses slowly and compresses the pituitary gland and nearby structures. First line of treatment is surgery followed by adjuvant radiotherapy as complete resection is usually not feasible. Here, we are reporting a case of recurrent craniopharyngioma treated with LINAC based SRS. Case Presentation: A 43 years old man diagnosed case of craniopharyngioma in May 2019. He underwent left pterional craniotomy and subtotal resection of tumour and kept on observation. He developed symptomatic as well as radiological recurrence in July 2020. Second debulking was not possible, so we did SRS on 23rd August 2020; 14Gy Dose was delivered to gross tumour volume. Six months after SRS, Patient is doing well. Conclusions: LINAC based SRS is a frameless, non-invasive and safe procedure with excellent clinical outcomes for recurrent or residual craniopharyngioma.

scholarly journals Laparoscopic intragastric resection of gastric synovial sarcoma: report of the first ever case with video demonstration

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Matteo Rivelli ◽  
Eduardo Fernandes ◽  
Cristian Conti ◽  
Laura Bernardoni ◽  
Sara Pecori ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Synovial Sarcoma ◽  
Tumor Resection ◽  
Resected Specimen ◽  
Case Presentation ◽  
Spindle Cell Neoplasm ◽  
First Case ◽  
Gastric Synovial Sarcoma ◽  
Complete Tumor

Abstract Background Synovial sarcoma (SS) is a rare soft tissue tumor. Among different anatomical locations where it can be found, gastric localization is a very uncommon one. Based on soft tissue sarcoma guidelines, complete tumor excision is considered the main treatment approach. Depending on size and localization of the tumor, both wedge and major gastric resections have been performed in the past for the treatment of this condition. Case presentation We present the case of a 43-year-old woman who underwent a laparoscopic intragastric excision of a gastric 10-mm SS located nearby the esophagogastric junction. Pathology examination confirmed the presence of a SS. The resected specimen confirmed margin-free excision of a monophasic spindle cell neoplasm invading the submucosa and presenting the rearrangement of SS18 gene at fluorescence in situ hybridization (FISH). No adjuvant treatment was offered, and 18 months after surgery, the patient was alive and disease free. Conclusions This represents the first case reported in literature of a laparoscopic intragastric resection for a gastric SS. This approach allowed to obtain a full thickness radical tumor resection with the advantages of minimally invasive and organ preserving surgery.

scholarly journals Refractory Craniopharyngioma: Successful Treatment with LINAC Based Stereotactic Radiosurgery(SRS): First Case in Nepal

2021 ◽  
Author(s):  
Subhash Thakur ◽  
Saloni Chawla
Keyword(s):  
Adjuvant Radiotherapy ◽  
Tumour Volume ◽  
Complete Resection ◽  
Subtotal Resection ◽  
Safe Procedure ◽  
Gross Tumour Volume ◽  
First Line ◽  
Case Presentation ◽  
Non Invasive ◽  
First Case

Abstract Purpose: To present first case of refractory craniopharyngioma treated successfully with SRS in Nepal.Background: Craniopharyngioma is a benign tumour, which progresses slowly and compresses the pituitary gland and nearby structures. First line of treatment is surgery followed by adjuvant radiotherapy as complete resection is usually not feasible. Here, we are reporting a case of recurrent craniopharyngioma treated with LINAC based SRS.Case Presentation: A 43 years old man diagnosed case of craniopharyngioma in May 2019. He underwent left pterional craniotomy and subtotal resection of tumour and kept on observation. He developed symptomatic as well as radiological recurrence in July 2020. Second debulking was not possible, so we did SRS on 23rd August 2020; 14Gy Dose was delivered to gross tumour volume. Six months after SRS, Patient is doing well.Conclusions: LINAC based SRS is a frameless, non-invasive and safe procedure with excellent clinical outcomes for recurrent or residual craniopharyngioma.

scholarly journals Immediate hypersensitivity reaction followed by successful oral desensitization to ursodiol

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Erika Yue Lee ◽  
Christine Song
Keyword(s):  
Hypersensitivity Reaction ◽  
Primary Biliary Cholangitis ◽  
Line Treatment ◽  
Second Line ◽  
Immediate Hypersensitivity ◽  
First Line ◽  
Case Presentation ◽  
Desensitization Protocol ◽  
First Line Treatment ◽  
Oral Desensitization

Abstract Background Immediate hypersensitivity reaction to ursodiol is rare and there is no previously published protocol on ursodiol desensitization. Case presentation A 59-year-old woman with primary biliary cholangitis (PBC) developed an immediate hypersensitivity reaction to ursodiol—the first-line treatment for PBC. When she switched to a second-line treatment, her PBC continued to progress. As such, she completed a novel 12-step desensitization protocol to oral ursodiol. She experienced recurrent pruritus after each dose following desensitization, which subsided after a month of being on daily ursodiol. Conclusion Immediate hypersensitivity reaction to ursodiol is uncommon. Our case demonstrated that this novel desensitization protocol to ursodiol could be safely implemented when alternative options are not available or have proven inferior in efficacy.

scholarly journals Immediate post partum macular subretinal bleeding in a highly myopic patient: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  
Keyword(s):  
Valsalva Maneuver ◽  
Post Partum ◽  
Pathologic Myopia ◽  
Pathological Myopia ◽  
Case Presentation ◽  
Sudden Loss ◽  
Corrected Visual Acuity ◽  
First Case ◽  
History Of ◽  
Macular Hemorrhage

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.

scholarly journals Emphysematous pyelonephritis with air bubble in the inferior vena cava

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Tiffany A. Perkins ◽  
Alberic Rogman ◽  
Murali K. Ankem
Keyword(s):  
Septic Shock ◽  
Inferior Vena Cava ◽  
Inferior Vena ◽  
Vena Cava ◽  
Rare Presentation ◽  
Emphysematous Pyelonephritis ◽  
Case Presentation ◽  
Air Bubble ◽  
First Case ◽  
The Right

Abstract Background Emphysematous pyelonephritis (EPN) with gas in the inferior vena cava (IVC) is a rare presentation and to our knowledge, this is the first case report in the urologic literature. Case presentation A 35-Year-old obese diabetic Hispanic female presented to the emergency room with a clinical picture of septic shock. Prompt computerized tomography scan revealed EPN with gas throughout the right renal parenchyma and extending to the right renal vein, IVC, and pulmonary artery. She died before surgical intervention Conclusion This case demonstrates that patients presenting with severe EPN have a high mortality risk and providers should acknowledge that septic shock, endogenous air emboli, or a combination of both could result in cardiovascular collapse and sudden death.

Sign in / Sign up

Export Citation Format

Share Document