Browse
Submit Data
Databases
API
Help

Dataset Information

20 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Malignant gastrointestinal neuroectodermal tumor presenting with small intestinal obstruction: A case report.

ABSTRACT: Malignant gastrointestinal neuroectodermal tumors (GNETs) are rare malignant mesenchymal neoplasms. To our knowledge, only 99 cases have been reported worldwide. The tumor has an aggressive malignancy, with a rapid progression. The histological features of GNET overlap with those of clear cell sarcoma, which contain Ewing sarcoma breakpoint region 1 mutation. GNETs lack melanocyte-specific markers, while clear cell sarcoma exhibits melanocytic differentiation. Various symptoms have been reported previously, and the most reported lesion is in the small bowel. The patient was a 69-year-old man who presented with abdominal pain and vomiting. Computed tomography revealed a nodule in the small bowel, which induced small intestinal obstruction. Enteroscopic images revealed a submucosal tumor. Surgery was performed, and the patient was diagnosed with GNET. Only two patients whose primary lesions were in the small intestine, including the patient in this report, have undergone enteroscopy before surgery. This is a rare case of GNET in which a patient underwent enteroscopy before surgical treatment.

SUBMITTER: Sasaki M

PROVIDER: S-EPMC9302053 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Small bowel gastrointestinal stromal tumor presenting with involvement of the adjacent small bowel and hemoperitoneum case report.

Project description:Accounting for less than one percent of all GI tumors, gastrointestinal stromal tumors are uncommon neoplasms that arise from the intestinal cells of Cajal. They can arise anywhere along the gastrointestinal tract, but most often arise from the stomach or small bowel. Usually, they are small and present with vague symptoms such as abdominal pain and are found incidentally. They usually don't involve other structures unless they metastasize. Here, we present a case of small bowel GIST. The patient is a 72-year-old male who was seen in the clinic with symptoms of abdominal pain for 4 months along with intermittent gastrointestinal bleeding for 6 years. Imaging studies revealed a mass in the small bowel with no signs of obstruction. During surgery, a 9 cm by 9 cm small bowel mass was identified with adhesions to the appendix, omentum, and a segment of small bowel. There was also a hemoperitoneum. En bloc resection was performed with clean margins. Histopathology report showed malignant gastrointestinal stromal tumor with focal involvement of adjacent small bowel loop.

| S-EPMC7494819 | biostudies-literature

Isolated cardiac peripheral primitive neuroectodermal tumor: A case report.

Project description:BackgroundPeripheral primitive neuroectodermal tumor isolated in the heart, presenting as a primary cardiac tumor is considered as extremely rare.MethodsWe present a 53-year-old Chinese female with a cardiac tumor which was discovered by CT.ResultsA hypo-intense tumorous mass was shown extending from the left ventricle by Cardiac CT, and fused FDG positron emission tomography demonstrated no other abnormal FDG active lesions in the body. We performed a total resection surgery of the tumor subsequently and the patient recovered well and discharged from hospital 6 d after surgery.ConclusionThe pathological diagnosis was primary cardiac peripheral primitive neuroectodermal tumor. No tumor recurrence was shown by echocardiography during the 24 months follow-up visits.

| S-EPMC5323009 | biostudies-literature

Mixed infected laryngocoele presenting as airway obstruction: a case report.

Project description:Laryngocoele is a rare entity, defined as an abnormal cystic dilatation of saccule of the laryngeal ventricle. Three types of laryngocele have been described, based on their relation to the thyrohyoid membrane: internal, external or mixed type. Symptoms are variable, including neck swelling, shortness of breath, dysphonia and fever, if the laryngocoele becomes infected. Patients may also present in extremis with airway obstruction. We present the case of a healthy 34-year-old gentleman with acute airway obstruction due to a mixed infected laryngocoele. Flexible nasoendoscopy showed a large cystic swelling arising from the laryngeal ventricle. Computed tomography of neck confirmed a right paraglottic collection extending into the ventricle and glottis, causing significant airway compromise. The patient was managed with microlaryngoscopy and cystic decompression. At outpatient follow up, he was completely asymptomatic and is currently under surveillance. Endoscopic decompression is a safe and effective initial management for mixed laryngocoele.

| S-EPMC7937032 | biostudies-literature

A rare case of pelvic primitive neuroectodermal tumor with misleading symptoms: A case report.

Project description:Peripheral Primitive NeuroEctodermal Tumors (pPNETs) are rare highly malignant tumors; originating from the neuroectoderm. Although PNETs may arise in various locations (most commonly in the extremities), very few cases have been reported in the pelvis. There is still poor evidence about the management of these tumors in the literature. We present a rare case of pelvic PNET in a 20-year-old male. The patient presented with symptoms mimicking a lumbar disk hernia, which delayed the diagnosis. He was managed with a combination of a debulking procedure, adjuvant chemotherapy, radiotherapy; and has been in remission for 2 years upon follow-up. This case highlights the importance of diagnosing such aggressive tumors as early as possible (as prognosis may vary significantly), and the challenge in the management of PNETs due to poor evidence.

| S-EPMC7251491 | biostudies-literature

Malignant Gastrointestinal Neuroectodermal Tumors: Clinicopathological and Prognostic Features of 96 Patients

Project description:Purpose Gastrointestinal neuroectodermal tumors (GNETs) are uncommon malignant tumors derived from ectodermal primitive neural cells. Patients and Methods We retrospectively analyzed 2 GNET cases at our hospital and the remaining 94 cases in the literature to determine clinicopathological prognostic factors. Results The patients had a mean age of 36 years and a median tumor size of 4.5 cm. A total of 67.0% of the tumors were located in the small intestine, and 76.4% of the patients presented recurrence or metastasis. There was a significant difference in sex and presence of osteoclast-like cells (P<0.01). Microscopically, most cells were round or short spindle-like in shape, with weak eosinophilic or clear cytoplasm. Neoplastic cells were always arranged in solid sheets, nests, and pseudoalveoli. Immunohistochemistry showed strong, diffuse S100 and SOX10 expression, with a complete absence of HMB45 and Melan-A expression. A total of 72.9% of the cases revealed genetic EWSR1 recombination, including our 2 cases. The median time to death and first metastasis was 61 months and 12 months, respectively. K-M analysis showed a great difference in survival according to lymph node invasion or distant metastasis (M+N), independent lymph node metastasis (N), lower histological grades (G2), and aggressive chemoradiotherapy (P=0.026, P=0.027, P=0.039 and P=0.037). However, independent T, independent M, and postoperative routine adjuvant therapy showed no statistical influence on overall survival or disease-free survival. Conclusion GNET is a new entity distinct in its clinical, morphological, immunochemical, and genetic features. Radical excision, close follow-up and adjuvant therapy may be effective for prolonged survival.

| S-EPMC7535118 | biostudies-literature

Left sided Richter type obturator hernia causing intestinal obstruction: A case report.

Project description:IntroductionAlthough relatively rare, an obturator hernia is a significant cause of intestinal obstruction. It usually occurs in emaciated elderly females. Computed tomography is the imaging modality of choice to diagnose obturator hernias.Case reportIn this report we present a case of an elderly female who presented to the emergency department with features suggesting bowel obstruction. The patient was admitted to the hospital and was initially managed conservatively. Two days later the patient underwent an exploratory laparotomy and was diagnosed with a left sided Richter type obturator hernia. The hernia was successfully reduced and the necrotic bowel was resected with end to end anastomosis.DiscussionAn obturator hernia is a rare type of abdominal hernias which often occurs in very thin old females. Patients with obturator hernias usually present with symptoms of acute or intermittent small bowel obstruction. Mild symptoms without abdominal pain may be due to incomplete obstruction or Richter type hernia. Computed tomography is considered the gold standard diagnostic modality for obturator hernias. An early surgical intervention is the treatment of choice.ConclusionThe clinical diagnosis of an obturator hernia is often difficult due to its nonspecific symptoms and infrequent signs. Yet early diagnosis is mandatory because its delay contributes to bowel necrosis and to the poor prognosis in these patients. Surgery remains the only effective management of this condition.

| S-EPMC6197568 | biostudies-literature

Kawasaki Disease Presenting as Acute Intestinal Obstruction.

Project description:Kawasaki disease (KD) is an acute febrile illness of childhood associated with vasculitis of medium-sized arteries especially the coronary arteries. Typical clinical features involving the skin, mucous surfaces, etc., occur sequentially over a few days. We report a rare presentation of KD as a surgical abdomen in a 2-year-old boy. Awareness of this presentation is important as it can otherwise lead to a delay in starting potentially life-saving intervention like intravenous immunoglobulins for cardiac complications kept cryptic by the manifest acute abdomen.

| S-EPMC5473306 | biostudies-other

Malignant haemangiopericytomas of omentum presenting as left inguinal hernia: A case report.

Project description:BackgroundHemangiopericytomas (HPC) are vascular tumors and can be found at any place where vessels are present. These were previously known as 'extrapleural Solitary Fibrous Tumour'. These tumors may reoccur and metastasize after surgical excision. We present herein a HPC of the greater omentum, diagnosed as left inguinal hernia preoperatively.Case presentationA 61-year-old male, presented with a huge painless mass in his left inguinoscrotal region secondary to weigh-lifting associated with malaise and vague abdominal pain. A well-defined, non-tender, and firm mass was found at the left lower abdomen extending to the left inguinoscrotal region. Based on the examination, a diagnosis of indirect inguinal hernia was made. Abdominal ultrasound showed a heterogeneous, hyporeflective, and vascularized mass. Contrast-enhanced computed tomography scan identified a localized, extraperitoneal, heterogeneously hypodense, well-defined, and lobulated mass, with marked contrast enhancement. On exploration, an encapsulated large mass originating from the omentum with enormously dilated blood vessels was excised. On histopathology, a neoplastic lesion, composed of spindle-shaped cells and moderate cytoplasm was identified. The blood vessels appeared thin-walled with a staghorn appearance in hemangiopericytic pattern. Omental sections showed fibro adipose tissue with dilated lymphatics and thick-walled blood vessels. Features were consistent with a malignant HPC of 20 × 14 × 10 cm.ConclusionWe present an unusual presentation of primary omental malignant HPC as an inguinal hernia, treated by complete surgical resection. These tumors are rare therefore, timely diagnosis is important for proper evaluation, diagnosis, and treatment. It also requires long-term follow up for better survival.

| S-EPMC7846890 | biostudies-literature

Recurrent malignant peripheral nerve sheath tumor presenting as an asymptomatic intravenous thrombus extending to the heart: a case report.

Project description:BackgroundMalignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma mainly treated via surgical resection. Herein, we report a case of MPNST wherein a massive tumor thrombus extended to the major veins and heart.Case presentationA 39-year-old female with a history of neurofibromatosis type 1 developed MPNST from the right radial nerve. In addition to adjuvant chemotherapy, she underwent wide tumor resection and concomitant radial nerve resection, followed by postoperative radiotherapy. Histological evaluation revealed marked venous invasion. The 2-year follow-up CT revealed an asymptomatic recurrent tumor thrombus extending from the right subclavian vein to the heart. An urgent life-saving operation was performed to ligate the base of the right subclavian vein and remove the entire intravenous thrombus that extended to the right ventricle. The remaining tumor in the right subclavian vein increased in size 3 months after thrombectomy. After confirming the absence of any metastatic lesions, the patient underwent extended forequarter amputation to achieve surgical remission. One year later, a new metastasis to the right diaphragm was safely resected. The patient remains alive without any evidence of disease 2 years after the extended forequarter amputation.ConclusionsIn cases of a previous history of microscopic venous invasion, recurrence can occur as a massive tumor thrombus that extends to the great vessels.

| S-EPMC8742394 | biostudies-literature

Clinical and molecular differentiation between malignant rhabdoid tumor of normal tissue: A two-case report

Project description:Preoperative B-scan ultrasonography and Computed Tomography (CT) examination in 2 cases suggested that nephroblastoma . Treated with radical nephrectomy after general anesthesia. After operation,MRTK diagnosis by pathological examination. Regular chemotherapy 7 courses(Child 1) and 12 courses(Child 2),followed up for 2 years(Child 1) and 3 years and 1 month(Child 2), without symptoms. RNA-seq results showed 2203 differential genes (DEGs) in the kidney tissue of children with MRTK compared to normal tissue. GO analysis suggested that most DEGs participate in protein binding. KEGG results showed that the DEGs were mainly involved in the PI3K-Akt signaling pathway and microRNA-related proteins.

2021-02-26 | GSE167547 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data