Pseudomyogenic hemangioendothelioma of bone with rare WWTR1-FOSB fusion gene: Case report and literature review.
Ontology highlight
ABSTRACT:
SUBMITTER: Murshed KA
PROVIDER: S-EPMC7981765 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Background/aimPseudomyogenic hemangioendothelioma is a rare endothelial tumor. Previous genetic investigations have shown that the tumors carry either a SERPINE1-FOSB or an ACTB-FOSB fusion gene. The aim of the study was to identify FOSB fusions linked with pseudomyogenic hemangioendothelioma.Materials and methodsRNA sequencing, reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing analyses were performed on a pseudomyogenic hemangioendothelioma.ResultsAn in-frame fusion was found between exon 4 of WWTR1 from 3q25 and exon 2 of FOSB from 19q13. The fusion gene not only places FOSB under the control of the WWTR1 promoter, but is predicted to encode a chimeric WWTR1-FOSB transcription factor.ConclusionFOSB may be fused with SERPINE1, ACTB, or WWTR1 in pseudomyogenic hemangioendotheliomas. The resulting overexpression of FOSB fusion is a potentially useful marker that could be helpful in the diagnosis of these tumors.
| S-EPMC6609259 | biostudies-literature
Project description:BACKGROUND:Hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare borderline tumor of vascular endothelial origin. Laparoscopic resection of HEHE has never been reported. METHODS:The clinical data of eleven patients with HEHE (4 women and 7 men) who were diagnosed and treated at the Union Hospital (Wuhan, China), and Wuhan Asia General Hospital (Wuhan, China), between March 2012 and July 2020 were analyzed retrospectively. RESULTS:The mean age of HEHE patients was 42.4 ± 13.9?years (range 22-67?years). All patients underwent laparoscopic surgery alone or in combination with radiofrequency ablation. Most tumors showed aggressive growth or metastasis. By immunohistochemistry, tumor cells were positive for CD31, CD34, ERG, PCK, FLi-1, TFE-3, and Ki-67 (labeling index range, 5-15%). In one of the patients, the tumor was accompanied by partial necrosis with a local appearance of epithelioid angiosarcoma. Postoperative adjuvant treatment included chemotherapy, sorafenib, and Huaier granule. As of July 2020, the median follow-up duration was 36?months (range, 9-60?months), with 2 (18.2%) patients experiencing tumor recurrence. CONCLUSIONS:This is the first report of laparoscopic hepatectomy of HEHE. Curative laparoscopic hepatectomy might be an acceptable treatment for appropriate HEHE patients.
| S-EPMC7596953 | biostudies-literature
Project description:IntroductionMucocele is a slow growing, benign but locally aggressive cystic structure lined by true epithelium. It often results due to obstructed sinus outflow or obstruction of gland-like mucous retention cyst. It can cause bony destruction and might result in orbital symptoms like diplopia, orbital displacement, visual disturbances. Other clinical features are facial numbness, dental problems, etc. Radiological evaluation is the preferred diagnostic modality. Surgical removal is the treatment of choice both endoscopic and open (could well luc) approach or combined approach are preferred. Here we report a very typical case of maxillary mucocele who presented with subtle symptoms of nasal obstruction. The study was done in compliance with SCARE guidelines.[1].Case presentationWe present a very unique case of 24 years man with complaints of nasal obstruction and swelling over the right cheek for 2 years. He had a history of facial trauma two years back. Diagnosis was made on the basis of radiological examination CT (Computed Tomography) scan. He underwent enucleation via Cold well Luc's approach with good postoperative results.ConclusionMaxillary mucoceles are slow growing benign lesions. However, they are locally aggressive and cause bony destruction resulting into orbital and dental symptoms. Thus early recognistion with regular folllowr up and planning for surgical intervention can help avoid complications.
| S-EPMC6556524 | biostudies-literature
Project description:Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism, fetal face, fetal face syndrome, fetal facies syndrome, acral dysostosis with facial and genital abnormalities, or mesomelic dwarfism-small genitalia syndrome. Covesdem syndrome was the name entitled for the recessive form previously. Here, we report a case of 8-year-old female with a autosomal recessive Robinow syndrome having skeletal and vertebral defects. How to cite this article: Soman C, Lingappa A. Robinow Syndrome: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2015;8(2):149-152.
| S-EPMC4562051 | biostudies-literature
Project description:BackgroundSplenogondal fusion (SGF) is a rare congenital anomaly characterized by abnormal association between the splenic tissue and the gonads or mesonephric remnants. SGF that requires separate two-stage laparoscopic staged Fowler-Stephen orchiopexy on both the left and right sides is extremely rare. SGF could be misdiagnosed as testicular malignancy and leads to unnecessary orchiectomy.Case presentationThis is a case of an 8-month old male infant presented with bilateral cryptorchidism, B-mode ultrasound visualized the left and right testes in the lower abdominal cavity and the upper margin of the left testicle as a hypoechoic mass extending to the spleen, indicating an undescended right testis and possible SGF on the left side. Single-site laparoscopic examination confirmed the diagnosis of SGF on the left side and an undescended right testis. As both testes were high and the right spermatic vessel was poorly developed and short, a routine single stage orchiopexy would be difficult and risky, therefore, separate two-stage laparoscopic staged Fowler-Stephen orchiopexies for both sides were implemented. Stage 1 of the staged Fowler-Stephen orchiopexy for the right side was performed first without treating the left side, Stage 2 for the right side, separation of the left testis from the spleen as well as Stage 1 for the left side were performed 7 months later, and Stage 2 for the left side was performed 7 months after that. Follow-up ultrasound 1 year after the surgery revealed no obvious abnormalities in the shapes of the testes or their blood supply. This treatment strategy prevented unnecessary orchiectomy.ConclusionsWe reported a rare case of SGF that needed separate two-stage laparoscopic staged Fowler-Stephen orchiopexies for both sides, and a review of the recent literature. SGF is a rare congenital anomaly often diagnosed incidentally during exploration/surgery for scrotal swelling/mass, cryptorchidism or inguinal hernia in young patients. Surgeons, especially pediatric surgeons should be aware of this rare condition to avoid unnecessary, life-altering radical orchiectomy. When routine single stage orchiopexy is not feasible or risky for either side, separate two-stage laparoscopic staged Fowler-Stephen orchiopexies could be performed on both the left and right sides to avoid unnecessary orchiectomy.
| S-EPMC7860507 | biostudies-literature
Project description:Munchmeyer's disease is a rare variety of myositis ossificans. It is a significant clinical entity, diagnosing and understanding its pathophysiology can save a patient from spurious medical workups and anxiety of a suspected neoplasm. The number of authentic cases of this disease in the literature is small. The purpose of this article is to present a case of Munchmeyer's disease and review the literature for the same to date. The rare incidence, obscure aetiology, unknown definitive treatment plan and poor prognosis make this condition an enigma.
| S-EPMC4082270 | biostudies-other
Project description:INTRODUCTION: Extramedullary plasmacytoma is a plasma cell tumor that grows within any of the soft tissues of the organism. Similar to all plasmacytic dyscrasia, the disease is extremely rare. AIM: This study reports a case of an extramedullary plasmacytoma of the nasal cavity and provides a literature review on the topic. CASE REPORT: A 51-year-old woman presented at our tertiary university hospital with a 6-month history of progressive nasal obstruction, predominantly to the right side, and self-limiting epistaxis. Examination revealed a large pale-reddish tumor within the right nasal cavity. Anatomopathological analysis showed features consistent with a plasmacytoma diagnosis, which was subsequently confirmed by immunohistochemical techniques. Further assessment revealed the solitary nature of the condition, consistent with extramedullary plasmacytoma. Radiotherapy was initiated, which led to partial regression of the symptoms. The tumor was surgically removed by using a mid-facial degloving approach. The patient evolved with a naso-oral fistula and underwent 3 corrective surgeries. No evidence of associated systemic disease was found after 5 years of follow-up. CONCLUSIONS: This case report, which describes a rare tumor of the nasal cavity, is expected to improve the recognition and referral of this condition by ear, nose, and throat (ENT) specialists for multidisciplinary management and long-term follow-up.
| S-EPMC4423260 | biostudies-other
Project description:Background:Primary peritoneal ependymoma is an exceedingly rare tumour with only four cases reported in the literature. It typically follows an indolent disease course. We describe a rare case of metastatic primary peritoneal ependymoma which was treated with chemotherapy and radiotherapy resulting in prolonged survival to date for 10 years. Case Presentation. The patient was a 23-year-old female on presentation. She presented with right upper quadrant pain associated with an abdominal mass. Computed tomography demonstrated a large mass displacing the liver. Debulking surgery was done revealing a tumour arising from the peritoneum as well as multiple metastatic pleural and peritoneal nodules. Pathology was consistent with primary peritoneal ependymoma. The patient was then treated with multiple lines of chemotherapy containing etoposide as the backbone. She also received palliative radiotherapy to the thoracic metastases with good and durable response. Conclusion:We reported a rare case of metastatic primary peritoneal ependymoma. Etoposide containing the chemotherapy regimen is effective in the treatment of peritoneal ependymoma. Radiotherapy is also effective for palliation of local symptoms with durable response.
| S-EPMC7448234 | biostudies-literature
Project description:IntroductionJejunogastric intussusception following gastrectomy or gastric bypass surgery is a rare complication that, if not identified early, can have catastrophic outcomes.Presentation of caseIn this case, a 59-year-old male with a previous Billroth II gastrojejunostomy presented with intussusception of the efferent loop of jejunum through his previous repair.DiscussionAs there has only been approximately 300 reported cases of this complication, it often does not rank high as a differential diagnosis. Early detection of jejunogastric intussusception by maintaining a high level of suspicion is critical in reducing morbidity and mortality associated with this complication. This can be achieved by following the appropriate steps to diagnosis and choosing the appropriate treatment modality.ConclusionPresentation of the case and a review of the literature is critical to make surgeons aware of this rare complication.
| S-EPMC8060587 | biostudies-literature
Project description:Hemangiomas of the rib are extremely rare benign neoplasm. Here we present a case in a 47-year-old female, detected by chest X-ray and underwent a surgical resection. Histologically, the tumor was composed of a homogeneous conglomerate, irregular, thin walled and dilated blood vessels containing red blood cells, supported by fibrous stroma and intermingled to regular bone trabeculae. The postoperative courses were uneventful, and there was no recurrence during 64 months follow-up.
| S-EPMC5553134 | biostudies-other