scholarly journals Undifferentiated colonic neoplasm with SMARCA4 germline gene mutation and loss of SMARCA4 protein expression: a case report and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Huanli Duan ◽  
Wei Gao ◽  
Leiming Wang ◽  
Feng Cao ◽  
Lianghong Teng

Abstract Background Nonsense mutation or inactivation of SMARCA4 (BRG1) is associated with a monomorphic undifferentiated histological appearance in tumors at different sites. The association between SMARCA4 alteration and undifferentiated colonic carcinoma needs to be further elucidated. Methods A 61-year-old male patient presented to the hospital with intermittent epigastric pain in the right upper abdomen and abdominal distension. The enhanced computed tomography detected a mass in the hepatic flexure of the colon and multiple liver metastases. Results The right hemicolectomy contained a 4.5-cm undifferentiated malignancy with cells arranged in sheets, abundant necrosis, and areas showing rhabdoid morphology. The immunohistochemistry result showed that these tumor cells were focally positive for cytokeratin (CK), CK8, and CK18; however, diffusely positive for vimentin, P53, Fli-1, and SALL-4. Notably, tumor cells showed a heterogeneous loss of SMARCA4 expression pattern and intact SMARCB1 expression. Next-generation sequencing showed a germline SMARCA4 c.3277C>T(p.R1093*)mutation, somatic APC mutation, and no abnormal SMARCB1 gene. The tumor exhibited microsatellite stability, negative PD-L1 expression, and few infiltrating CD8 + T cells. The patient died a month later after surgery. Conclusions We presented a rare case of undifferentiated colonic neoplasm with loss of SMARCA4 protein expression and germline SMARCA4 mutation. Moreover, the role of SMARCA4 alterations in tumor diagnosis and treatment was also summarized.

2015 ◽  
Vol 53 (200) ◽  
pp. 301-303 ◽  
Author(s):  
Ramesh Singh Bhandari ◽  
Paleswan Joshi Lakhey ◽  
Parsu Ram Mishra

A 57 year old male presented to our outpatient clinic with history of on and off melena, weight loss and decreasing appetite for 10 months duration and a noticeable mass on the right upper quadrant. Abdominal examination revealed an intra-abdominal lump in right upper quadrant which was subsequently evaluated by colonoscopy, which revealed an ulcero-proliferative growth in the hepatic flexure and the biopsy from it confirmed well-differentiated adenocarcinoma. Contrast enhanced computed tomography demonstrated hepatic flexure mass with possible invasion into adjacent duodenum without features of advanced disease. After completion of necessary preoperative assessment and investigations, patient was explored with curative intent and underwent extended right hemicolectomy with en bloc pancreaticodudenectomy. Patient was discharged on 10th postoperative day and at 14 months follows up; he was doing well without any evidence of recurrence. Keywords: colectomy; locally advanced; pancreaticoduodenectomy.


2013 ◽  
Vol 98 (4) ◽  
pp. 409-411 ◽  
Author(s):  
Makoto Takeda ◽  
Yoshinori Ohnuki ◽  
Takashi Uchiyama ◽  
Osamu Kubota ◽  
Kousuke Ohishi

Abstract Internal hernias in which the gate is located in the paracolic gutter are rare. A 75-year-old man was admitted to our hospital with severe epigastric pain without past history of laparotomy and/or trauma. He was diagnosed with strangulation of the ileum by the findings of computed tomography, and the operation was performed. During laparotomy, the small intestine was found to be strangulated and to enter the retroperitoneum from the right paracolic gutter near the hepatic flexure. The patient was diagnosed with an internal hernia, which differed from a pericecal hernia in that the hernia gate was located along the paracolic gutter near the hepatic flexure far from the cecum. Hence, it was considered to be a rare type of internal hernia. We report the clinical presentation and imaging findings of this rare internal hernia.


2020 ◽  
Vol 102 (2) ◽  
pp. e39-e41
Author(s):  
M Sammut ◽  
C Barben

Approximately 5% of intestinal obstruction cases are caused by internal herniation. Caecal herniation through the foramen of Winslow is considered a rare event. The management of caecal herniation remains challenging due to the lack of literature highlighting this pathology. A 66-year-old woman was admitted with a 24-hour history of epigastric pain radiating to the back. The pain was associated with nausea and vomiting of gastric contents. On examination, the abdomen was soft with mild tenderness but no signs of peritonism or distension. The abdominal x-ray and a computed tomography were in keeping with caecal volvulus and confirmed that the caecum was not in the right iliac fossa. In a midline laparotomy procedure, the ileum, caecum and ascending colon were noted to be herniating into the foramen of Winslow. A right hemicolectomy with a handsewn anastomosis was performed. The foramen of Winslow was not closed. No postoperative complications occurred. A literature review showed a lack of similar cases with no agreed management consensus. The laparotomy approach is comparable to the laparoscopic approach and no caecal herniation recurrence after open/laparoscopic surgical procedures were identified. Awareness of caecal herniation allows early diagnosis and timely surgical management is needed in prevent patient morbidity and mortality.


2020 ◽  
Author(s):  
Zhanwei Zhao ◽  
Yun Huang ◽  
Xiliang Zhang ◽  
Huibin Zhao ◽  
Chaojun Zhang

Abstract Background : Although ectopic thyroid can be found in thoracic locations, the discovery of abdominal ectopic thyroid is often an accidental event. Moreover, abdominal ectopic thyroid is easily misdiagnosed due to the rarity of these cases and the difficulties in the preoperative diagnosis process. Thus, we aimed to assess the prevalence and features of abdominal ectopic thyroid and to highlight the current knowledge about the clinical characteristics and management of this condition by analyzing a case report of abdominal ectopic thyroid and reviewing the literature. Case presentation : A 70-year-old woman with a 3-year history of gradually increasing abdominal distension in the right lower quadrant of the abdomen was admitted to the hospital. Contrast-enhanced computed tomography (CT) of the abdomen revealed a retroperitoneal mass. The patient underwent Da Vinci robotic surgery, and the retroperitoneal mass was completely resected. Subsequently, the pathologic diagnosis of the mass was ET. The patient had no discomfort or symptoms when she was discharged from the hospital and at the postoperative 1, 3, 6, 9 and 12 month follow-up. The summary of literature review suggested that abdominal ectopic thyroid is still rare although there are some reports. Nonetheless, the cause of abdominal ectopic thyroid is unclear, and abdominal ectopic thyroid has the following characteristics: more common in women than in men, asymptomatic in the majority of the cases, difficult to diagnose, and found by excluding metastasis. Most ectopic thyroid is treated with surgery, and minimally invasive techniques have been increasingly performed. Conclusion : This is the first report on Da Vinci robotic resection for large rare retroperitoneal ET, and this case highlights that ET should be considered when patients present with similar imaging findings in the abdomen.


2016 ◽  
Vol 63 (1) ◽  
pp. 125-128
Author(s):  
S. Ðurdjevic ◽  
G. Barisic ◽  
I. Dimitrijevic ◽  
Z. Krivokapic

Introduction: Lipoma is the third most common benign colonic neoplasm following hyperplastic and adenomatous polyps with a reported incidence of 0.2-4.4%. In 90% of cases, submucosa of the right colon is involved. These neoplasms are usually asymptomatic and require no treatment. However, giant lipomas, more than 4 cm in diameter are symptomatic in 75% of cases, causing intestinal obstruction and intussusception. Case report: 48-year-old man, with no significant medical history, nonsmoker, with unremarkable family history was admitted to hospital. Three weeks prior to admission, the patient experienced intermittent epigastric pain that lasted for 3 hours (8-9/10 on a pain scale). He also reported heartburn and flatulence following meals, as well as having change in appearance and stool frequency. Patient reported liquid stools with no traces of blood. Upper GI endoscopy showed no abnormalities. Colonoscopy revealed submucosal tumor at the level of hepatic flexure, 5.5 x3.5 cm in diameter with no other pathological finding. Abdominal MDCT reveals colonic wall thickening at the level of hepatic flexure 4.5 cm in diameter, interposition of transversal colon prehepatically and high below the diaphragm (Chialiditi syndrome). CEA values were within normal range. We performed laparscopical exploration followed by colotomy with tumor excision, through minimal upper midline incision. Histological finding confirmed the diagnosis of lipoma. Postoperative recovery was complicated due to pseudomembranous clostridial colitis but treated successfully with antibiotics. The patient is doing well, has no complaints 6 months after surgery. Conclusion: Reported incidence of colonic lipoma is rather low. However, giant ones are associated with high risk of intestinal obstruction, so we believe that detailed diagnostic work-up followed by elective operative treatment should be considered.


2016 ◽  
Vol 18 (3) ◽  
pp. 394
Author(s):  
Bogdan Stancu ◽  
Alexandra Chira ◽  
Romeo Ioan Chira ◽  
Ioana Grigorescu ◽  
Claudia Diana Gherman ◽  
...  

We present a rare cause of intestinal obstruction in an adult, due to ileo-colic intussusception by a lipoma of the ileo-cecal valve and its ultrasonographic presentation. The case presented in emergency for spontaneously appearing and disappearing palpable elastic mass in the right iliac fossa. The ultrasonographic examination raised the suspicion of an ileo-colic intussusception due to a polypoid tumor. The contrast-enhanced computed tomography confirmed the finding and suggested that the polypoid tumor was more likely a lipoma. Right hemicolectomy and cholecystectomy were performed and the pathological examination confirmed the lipoma. The evolution of the patient was favourable and uneventful.


2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Ashish Lal Shrestha ◽  
Pradita Shrestha

Background.Inflammatory Fibroid Polyp (IFP) of the colon is an exceedingly rare condition. Since 1952 till now only 32 cases have been reported worldwide of which only 5 were giant (>4 cm) polyps mostly found in the caecum (15 cases) with only 3 in the descending colon.Case Presentation.A 36-year-old female with no previous illness presented to the emergency unit with an acute onset pain over the right hypochondrium for 3 days associated with intermittent fever and anorexia. As she had evidence of localized peritonitis she underwent a diagnostic laparoscopy and subsequently an exploratory laparotomy. A mass measuring 8 × 7 × 5 cm arising from the hepatic flexure of colon was noted. Right hemicolectomy with ileotransverse anastomosis was performed. The mass was subsequently reported to be IFP.Conclusion.IFP is a very rare condition with clinical presentation depending upon its size and location. Definitive diagnosis is possible with histopathological examination of tissue aided by immunohistochemical studies. Surgical resection has been the most common method of treatment especially for large and giant colonic IFPs owing to challenges in terms of diagnosis and technical difficulties associated with endoscopic methods.


2019 ◽  
Vol 47 (6) ◽  
pp. 2716-2722 ◽  
Author(s):  
Li-Ping Zhang ◽  
Lu Zhang ◽  
Guanqun Wang ◽  
Binay Kumar Adhikari ◽  
Quan Liu ◽  
...  

Solitary fibrous tumours are unusual neoplasms that develop from mesenchymal cells, usually originating from the pleura. A pericardial solitary fibrous tumour is an extremely rare occurrence. We report a 64-year-old woman who presented to the hospital with chief complaints of dyspnoea and abdominal distension. Echocardiography and enhanced computed tomography revealed an intrapericardial tumour with local invasion to the right atrium. Histopathological examination of a biopsy specimen showed a patternless distribution of spindle-shaped cells in a collagen stroma, with a high mitosis rate. Immunohistochemistry was positive for vimentin, CD34, and Bcl-2. The final diagnosis was a pericardial malignant solitary fibrous tumour with right atrial invasion. Surgical resection of the tumour was not performed because of its invasion into the myocardium. We systematically reviewed the literature on cardiac solitary fibrous tumours up to 2019.


2019 ◽  
Vol 6 (3) ◽  
pp. 85-89
Author(s):  
Elena Neștian ◽  
M A Șoitu ◽  
Rodica Birla ◽  
Daniela Dinu ◽  
Cristina Iosif ◽  
...  

Introduction: Tumors of ileo-caecal valve are most clinically manifested either through transit disorders or anemic syndrome. The 88-year-old patient is admitted for abdominal pain in the left flank, vomiting, asthenia and lack of intestinal transit for faeces, with a progressive onset of one week. Clinical examination: generalized affected state, wide abdomen, painful left flank and hypochondrium, lack of intestinal transit and pallor. Paraclinic: severe hypochromic microchrome anemia (hemoglobin: 5.8 g / dl). Plain radiography: hydro-aeric levels in the left hypochondrium. Abdominal CT: ileo-colic intussusception that completely occupies the ascending colon to the hepatic flexure, with no visible tumoral lesions. After hydroelectrolytic and hemodynamic balancing with restoration of intestinal transit, colonoscopy is performed: 5 cm ulcer-vegetative tumor formation at the ileo-caecal valve level - biopsy with histopathological examination: moderately differentiated adenocarcinoma. Patient refuses surgery. After 3 weeks, the patient returns to the clinic for the recurrence of digestive symptoms and emergency surgery is performed: laparotomy by median suprasubombilical incision, finding: ileo-ceco-appendico-colic invagination up to the middle third of the transverse colon, defective attachment of ascending colon, ileum dilated with thick wall. The invagination is reduced, the tumor formation is discovered. Right hemicolectomy with ileotransversoanastomosis is performed. Postoperatively, the patient shows a simple evolution with discharge of the 9th postoperative day. Conclusions: The ileocolic invagination in adults is most often the appearance of a tumor located on mobile segments of the intestine. The right colon invagination is possible when there is a defect of acolation, anatomical peculiarity encountered in the presented case.


2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Mounia Bendari ◽  
Nouama Bouanani ◽  
Mohamed Amine Khalfaoui ◽  
Maryam Ahnach ◽  
Aziza Laaraj ◽  
...  

The myelodysplastic syndrome-myeloproliferative neoplasms (MDS/MPNs) are defined by a group of heterogeneous hematological malignancies resulting from stem cell−driven clonal growth of pathological hematopoietic progenitors and ineffective hematopoiesis, they are characterized concomitant myelodysplastic and myeloproliferative signs. Myelodysplastic/myeloproliferative disorders have been considered to have a higher risk of thrombus formation.We report a rare case about a 64 years old Moroccan woman, experienced renal infarction (RI) associated with pulmonary embolism as a complication of a myelodysplastic/myeloproliferative disorder.The patient complained of acute-onset severe left flank pain, a contrast-enhanced computed tomography (CT) of the chest and abdomen revealed RI by a large wedge-shaped defect in the right kidney with pulmonary embolism.Biological exam showed deep anemia, the bone marrow aspiration found myelodysplasia.the bone biopsy showed signs of myeloproliferatif disease. The karyotype was normal, BCR-ABL, JAK2, CALR mutations were absents, and MPL mutation was positive. The International Prognostic Scoring System (IPSS-R) was 0, and the patient was included to the low risk group.Anticoagulation therapy was initiated with heparin to treat RI and pulmonary embolism. Three months later, pulmonary embolism had resolved without the appearance of additional peripheral infarction.This case emphasizes the need to consider myelodysplastic/myeloproliferative disorders as a cause of infraction renal and pulmonary embolism.


Sign in / Sign up

Export Citation Format

Share Document