scholarly journals Peritoneal Serous Borderline Tumour with Ultra-Mutated NGS Profile Including POLE E, BRAF, RB1, HER2 and P53 Mutations : A Case Report.

2020 ◽  
Author(s):  
Jean-Christophe Noel ◽  
Antonio Buonomo ◽  
Sarah Bouri ◽  
Nicky D’Haene ◽  
Xavier Catteau

Abstract Background: Serous borderline tumors of the peritoneum are rare low-grade epithelial proliferation with a tubal-type differentiation occurring in the pelvis or abdomen without underlying tissue invasion that resemble to ovarian serous borderline tumors but by definition without ovrian or tubal involvement. To date, the mutation status in molecular biology of these tumours remains largely unknown.Case presentation: Here we describe the case of a borderline peritoneal serous tumour which occurred in a 48 year old patient in whom an analysis of the mutation status by NGS technique identified a ultra-mutated profile including POLE E, BRAF, RB1, HER2 and p53 mutations.Conclusions: To the best of our knowledge, this particular mutation status has never been described in this type of tumour. It could represent an early event with transient mutations, most of them will not fixate on the genome.

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Zigong Shao ◽  
Baoping Jiao ◽  
Juanhan Yu ◽  
Hao Liu

Abstract Background Myxofibrosarcoma (MFS) is most often found on the limbs of aged male people, but extremely uncommon in the liver. Case presentation A 52-year-old female patient with a liver mass was diagnosed as a primary MFS. It had no obvious abdominal symptoms, and the tumor was resected with an extended margin. Three years after the surgery, the patient was readmitted for peritoneal metastasis and passed away 4 months later. The tumor has a benign presentation, but malignant outcome. Conclusions Comprehensive radiological inspection, intensive preoperative evaluation, careful design of operating procedures, wide margin resection, consecutive treatment, and strict periodical follow-ups should be taken to ensure a better prognosis of this kind of neoplastic disease.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Parviz Mardani ◽  
Arash Safarian ◽  
Anita Ashari ◽  
Sarina Pourjafar ◽  
Mohammad Hossein Anbardar ◽  
...  

Abstract Introduction Meningiomas are the most commonly encountered intracranial tumors, usually showing indolent behavior. Extra-axial spreading and distant metastases are seldom detected in these tumors, and lung metastasis from a low-grade meningioma is a rare event. Case presentation This case report aimed to present the clinical, imaging, and pathological features of a 37-year-old Caucasian pregnant woman with bilateral lung metastases incidentally detected during preoperative workup ahead of surgery for a primary intracranial meningioma. The possible metastatic routes and risk factors of dissemination to the pulmonary circulation were discussed as well. Conclusion Metastasis must be considered in patients with intracranial meningiomas accompanied by venous sinus invasion and extension through the calvarium. Thorough paraclinical investigations are suggested in such cases.


2007 ◽  
Vol 56 (6) ◽  
pp. 575
Author(s):  
Young Chul Kim ◽  
Jin-Suck Suh ◽  
Myung In Kim ◽  
Hye-Jung Choo ◽  
Yong-Min Huh
Keyword(s):  

2014 ◽  
Vol 23 (2) ◽  
pp. 161-170 ◽  
Author(s):  
Claudiu Margaritescu ◽  
Daniel Pirici ◽  
Irina Cherciu ◽  
Alexandru Barbalan ◽  
Tatiana Cârtâna ◽  
...  

Background & Aims: Colorectal cancer represents the third most common malignancy and the fourth most common cause of cancer death worldwide. The existence of drug-resistant colon cancer stem cells is thought to be one of the most important reasons behind treatment failure in colon cancer, their existence putatively leading to metastasis and recurrences. The aim of our study was to investigate the immunoexpression patterns of CD133 and CD166 in colon carcinoma, both individually and in combination, assessing their significance as prognostic markers.Methods. A total of 45 retrospective colon adenocarcinoma cases were investigated by enzymatic and multiple fluorescence immunohistochemistry for their CD133 and CD166 expression and colocalization.Results. Both CD133 and CD166 were expressed to different extents in all cancer specimens, with apredominant cytoplasmic pattern for CD133 and a more obvious membranous-like pattern for CD166.Overall, when comparing their reactivity for the tumoral tissue, CD166 expression areas seemed to be smaller than those of CD133. However, there was a direct correlation between CD133 and CD166 expression levels throughout the entire spectrum of lesions, with higher values for dysplastic lesions. Colocalization of CD133/ CD166 was obvious at the level of cells membranes, with higher coeficients in high grade dysplasia, followed by well and moderate differentiated tumours.Conclusions. CD133/CD166 colocalization is an early event occurring in colon tumorigenesis, with thehighest coeficients recorded for patients with high grade dysplasia, followed by well differentiated tumours. Thus, we consider that the coexpression of these two markers could be useful for further prognostic andtherapeutically stratification of patients with colon cancer.Abbreviations: AJCC - American Joint Committee on Cancer; CCD - charge-coupled device camera sensor; CD133 - prominin-1 (PROM1); CD166 - Activated Leukocyte Cell Adhesion Molecule (ALCAM); CRC - colorectal cancer; CSC - cancer stem cells; DAB - 3,3'-diaminobenzidine chromogen; DAPI - 4',6-diamidino- 2-phenylindole; HE - Hematoxylin and eosin staining; HGD - high grade dysplasia; HRP - horseradish peroxidase; LGD - low grade dysplasia; SDS - sodium dodecyl sulfate*Part of this work has been accepted as a poster presentation at the Digestive Disease Week (DDW) meeting, Chicago, IL, USA May 3-6, 2014


2020 ◽  
pp. 1-5
Author(s):  
Anton Stift ◽  
Kerstin Wimmer ◽  
Felix Harpain ◽  
Katharina Wöran ◽  
Thomas Mang ◽  
...  

Introduction: Congenital as well as acquired diseases may be responsible for the development of a megacolon. In adult patients, Clostridium difficile associated infection as well as late-onset of Morbus Hirschsprung disease are known to cause a megacolon. In addition, malignant as well as benign colorectal strictures may lead to intestinal dilatation. In case of an idiopathic megacolon, the underlying cause remains unclear. Case Presentation: We describe the case of a 44-year-old male patient suffering from a long history of chronic constipation. He presented himself with an obscurely dilated large intestine with bowel loops up to 17 centimeters in diameter. Radiological as well as endoscopic examination gave evidence of a spastic process in the sigmoid colon. The patient was treated with a subtotal colectomy and the intraoperative findings revealed a stenotic stricture in the sigmoid colon. Since the histological examination did not find a conclusive reason for the functional stenosis, an immunohistochemical staining was advised. This showed a decrease in interstitial cells of Cajal (ICC) in the stenotic part of the sigmoid colon. Discussion: This case report describes a patient with an idiopathic megacolon, where the underlying cause remained unclear until an immunohistochemical staining of the stenotic colon showed a substantial decrease of ICCs. Various pathologies leading to a megacolon are reviewed and discussed.


Author(s):  
Josué Saúl Almaraz Lira ◽  
Alfredo Luis Chávez Haro ◽  
Cristian Alfredo López López ◽  
Remedios del Pilar González Jiménez

Introduction. Scorpion stings occur mainly in spring and summer, with an estimate of 1.2 million cases per year worldwide. About 300,000 poisonings occur within a year, primarily affecting children and adults older than 65 years. In 2019, Guanajuato (Mexico) ranked third in poisoning by scorpion sting with a total of 43,913 cases. The intoxication grades are three where the signs and symptoms are varied. There are two types of antivenom in the Mexican market, and we use Alacramyn® in our case. Case presentation. A 70-year-old female —with grade 1 scorpion sting poisoning, 30 minutes of evolution, with type 2 diabetes and high blood pressure— received two vials of antivenom according to current regulations. She presented transient vagal reaction and subsequent transient pain in the cervical region that radiates to the sacral region. At discharge, there are no data compatible with scorpion sting poisoning. Conclusions. Transient pain in the cervical region to the sacral region may be secondary to an anxiety crisis, hypersensitivity to IgG, or secondary reaction to administration in less time than recommended by the provider. The benefit was greater than the reactions that occurred.


2020 ◽  
Vol 30 (3) ◽  
pp. 56-59
Author(s):  
Jūratė Gudaitytė ◽  
Justina Jermolajevaitė ◽  
Martynas Judickas

Background and objectives: Acromegaly is endocri­nal disorder which results in changes involving ge­neral appearance as well as upper airway abnorma­lities, cardiovascular and metabolic disorders which can aggravate the anesthesia and can lead to compli­cations. We aim to discuss the challenges for anesthe­siologist that occurs facing patient with acromegaly and are necessary to investigate before performing any kind of intervention. Case Presentation: 79 years old male patient presen­ted the hospital with recently diagnosed acromegaly for rectal prolapse surgery. From anamnesis he had NYHAIII with cardiomyopathy, atrial fibrillation and arterial hypertension, also multiple old compressive fractures Th10 – L5. He was graded with Mallam­pati score IV and ASA class IV. The complemen­tary examinations were made to assess the possible complications. In induction of general anesthesia the intubation was performed using fibro- bronchoscope and anesthesia went without complications except hypotension which was managed. After surgery the patient was leaded to the postoperative room for furt­her monitoring. Discussion and Conclusion: Acromegalic patients have an increased risk of difficulty during anesthe­sia compared to general population due to difficult intubation, cardiovascular complications , OSA , alte­ration in intraoperative glucose intolerance and fluid regulation. Therefore profound investigation and as­sessment are necessary to predict and prepare for possible difficulties in the surgery room.


2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Anne-Jet S. Jansen ◽  
Paul M. van Schaik ◽  
Jasper M. Martens ◽  
Michel M. P. J. Reijnen

Abstract Background This case report demonstrates the value of IMPEDE-FX plugs in an embolization procedure of a false lumen of an infrarenal post-dissection aneurysm. Case presentation A 69-year-old patient was treated with mitral valve replacement, complicated by a Stanford type-A dissection. After 9 years he presented with an enlarging infrarenal post-dissection aneurysm. The false lumen was embolized using multiple IMPEDE-FX plugs as part of the treatment in addition to embolization of the inferior mesenteric artery and overstenting of the re-entry in the right iliac artery. At 15 months the CTA showed a fully thrombosed false lumen and remodeling of the true lumen. Conclusions The false lumen of an infrarenal post-dissection aneurysm can successfully be embolized using IMPEDE-FX embolization plugs as part of the treatment strategy. Prospective trials on patients with non-thrombosed false lumina are indicated.


Sign in / Sign up

Export Citation Format

Share Document