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Nigerian Journal of Clinical Practice Mar 2023Melanoma is a relatively rare tumour with tendency to metastasize to the gastrointestinal tract. Metastasis to the intestine constitutes a majority of the...
Melanoma is a relatively rare tumour with tendency to metastasize to the gastrointestinal tract. Metastasis to the intestine constitutes a majority of the gastrointestinal tract melanoma metastases and confers a poor prognosis. While post-mortem studies detect that more than half of the melanoma patients have gastrointestinal tract metastasis, only minority are diagnosed, and even rarer present with intussusception. Intussusception, mainly a paediatric entity, is also seen among adult patients with underlying inflammatory bowel disease or tumour. In this report, we describe a patient with a melanoma in remission who presented with intestinal obstruction after months of vague abdominal complaints. Laparotomy revealed jejunal intussusception and histopathological staining confirmed the melanoma diagnosis. No other distant metastases other than the jejunum were revealed after extensive investigation.
Topics: Adult; Humans; Child; Intussusception; Jejunum; Neoplasm Recurrence, Local; Melanoma; Intestinal Obstruction; Syndrome
PubMed: 37056115
DOI: 10.4103/njcp.njcp_675_22 -
Annals of Surgery Nov 1957
Topics: Colon; Humans; Jejunal Neoplasms; Jejunum; Liposarcoma; Neoplasms
PubMed: 13479054
DOI: 10.1097/00000658-195711000-00018 -
Medicine Jan 2023Type 1 neurofibromatosis (NF1) is one of the most prevalent genetic conditions. NF1 is characterized by cutaneous plexiform neurofibromas and café au lait skin... (Review)
Review
Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review.
RATIONALE
Type 1 neurofibromatosis (NF1) is one of the most prevalent genetic conditions. NF1 is characterized by cutaneous plexiform neurofibromas and café au lait skin pigmentation, and is inherited in an autosomal dominant trait with mutation in the neurofibromin 1 gene on chromosome 17. Neurofibromin is involved in Ras proto-oncogene regulation. Accordingly, NF1 may lead to malignancies, with a lifetime cancer risk of 60%. Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality due to NF1. The relevance of gastrointestinal stromal tumor (GIST) in NF1 is increasingly being reported in the literature and NF1-associated GIST has been identified to have an alternative molecular pathogenesis.
PATIENT CONCERNS
A 62-years-old female had a 7 × 5 cm growing back mass in the background of various sized cutaneous neurofibromas with café au lait spots. Computed tomography performed in the workup revealed a 4.1 cm enhancing mass near the ileal mesentery.
DIAGNOSES
NF1 affected by cutaneous MPNST of the back, and synchronous GIST and submucosal angiomyolipoma (AML) of the jejunum.
INTERVENTIONS
The patient underwent laparoscopic jejunal mass excision, and excision and flap coverage for the back mass owing to the suspicion of multiple MPNSTs. However, the abdominal masses were diagnosed as GIST and AML following confirmation of the immunohistochemical profiles. Accordingly, the patient was administered adjuvant radiotherapy to the MPNST after surgery.
OUTCOMES
Symptomatic improvements were achieved, and no subsequent relapses were observed.
LESSONS
Although MPNST and GIST are not rare neoplasm in NF1, only 2 case reports have been published on the synchronous occurrence of these tumors. Moreover, no case report has been published on AML in NF1, except 1 renal AML in segmental neurofibromatosis. Identifying the clinical and pathologic significances of the NF1 is important to achieve improved diagnostic accuracy.
Topics: Female; Humans; Middle Aged; Neurofibromatosis 1; Neurofibrosarcoma; Gastrointestinal Stromal Tumors; Jejunum; Angiomyolipoma; Neurofibromin 1; Neurofibroma; Skin Neoplasms; Hamartoma; Leukemia, Myeloid, Acute
PubMed: 36701730
DOI: 10.1097/MD.0000000000032696 -
PloS One 2021The current understanding of clinicopathological features and genomic variants of small-bowel cancer is limited, in part due to the rarity of the disease. However,...
The current understanding of clinicopathological features and genomic variants of small-bowel cancer is limited, in part due to the rarity of the disease. However, understanding of these factors is necessary for the development of novel therapeutic agents for small-bowel cancer. Thus, we aimed to identify the clinicopathological features and genomic variants associated with its prognosis and recurrence. We retrospectively examined 24 consecutive patients with primary small-bowel cancer surgically treated between May 2005 and August 2018 and collected 29 tumor specimens. The 29 lesions were subjected to mismatch repair status evaluation, using immunohistochemistry (IHC), and targeted genomic sequencing, after which they were analyzed using a panel of 90 cancer-related genes. IHC revealed that 45% (13/29) of the lesions exhibited deficient mismatch repair. The most common genomic variants in small-bowel cancers were in TP53 (48%, 13/27), followed by KRAS (44%, 12/27), ARID1A (33%, 9/27), PIK3CA (26%, 7/27), APC (26%, 7/27), and SMAD4, NOTCH3, CREBBP, PTCH1, and EP300 (22%, 6/27 each). Overall survival and disease-specific survival of patients with tumor mutational burden (TMB) ≥10 mutations/Mb (n = 17) were significantly better than those of patients with TMB <10 mutations/Mb (n = 6). Additionally, patients with a mutant SMAD4 had poorer recurrence-free survival than those with wild-type SMAD4. Our results suggested that TMB and SMAD4 mutations were associated with the prognosis of small-bowel cancer patients. Thus, cancer genomic analysis could be useful in the search for biomarkers of prognosis prediction in small-bowel cancers.
Topics: Adult; Aged; Biomarkers, Tumor; CREB-Binding Protein; DNA-Binding Proteins; Female; Humans; Ileal Neoplasms; Jejunal Neoplasms; Male; Middle Aged; Mutation; Receptors, Notch; Smad Proteins; Survival Analysis; Transcription Factors; Tumor Suppressor Protein p53; ras Proteins
PubMed: 34014970
DOI: 10.1371/journal.pone.0241454 -
International Journal of Surgery Case... May 2023A small bowel gastrointestinal stromal tumor (GIST) is a rare neoplasm of the gastrointestinal tract. The manifestation of bleeding is a diagnostic challenge and could...
INTRODUCTION
A small bowel gastrointestinal stromal tumor (GIST) is a rare neoplasm of the gastrointestinal tract. The manifestation of bleeding is a diagnostic challenge and could present as a life-threatening situation that needs urgent intervention.
PRESENTATION OF CASE
64-year-old woman consulted for episodes of melena and anemia. The upper and lower endoscopies were not diagnostic. Capsule endoscopy (CE) revealed a probable jejunal hemangioma, however double-balloon enteroscopy and magnetic resonance imaging (MRI) did not show any intestinal nodule but MRI show a pelvic mass apparently related to the uterus confirmed by a gynecologist. Even so, the patient returned with melena, and a contrast-enhanced computed tomography (CT) scan again identified a pelvic mass, highlighting that its vascularization drained into the superior mesenteric territory and seemed to invade the jejunum, with active bleeding, suspicious for jejunal GIST. A laparotomy was performed to remove the jejunal mass. Histopathology and immunohistochemical studies confirmed the diagnosis.
DISCUSSION
Bleeding is a common symptom in small bowel GISTs but its diagnoses could be difficult because its location. In most cases, gastroscopy and colonoscopy are not useful and CE or imaging studies are necessary to find the cause of bleeding. Moreover, it has recently proved that bleeding is a prognostic risk factor because it is related to tumor rupture and tumor invasion of blood vessels.
CONCLUSION
In this case, bleeding caused by small bowel GIST was misdiagnosed in endoscopic procedures and the clinical management was delayed. CT angiography was the most effective investigation to detect the source of bleeding.
PubMed: 37137174
DOI: 10.1016/j.ijscr.2023.108257 -
Current Oncology (Toronto, Ont.) May 2022Esophagojejunal anastomosis (EJA) complications after total gastrectomy are related to significant morbidity and mortality. The aim of this study was to evaluate the...
Esophagojejunal anastomosis (EJA) complications after total gastrectomy are related to significant morbidity and mortality. The aim of this study was to evaluate the association between arterial calcifications and EJA complications such as leak and stricture for gastric cancer. Between January 2014 and October 2019, 30 patients with EJA complications after total gastrectomy were enrolled and matched to 30 patients without complications through retrospective data review. Arterial calcification grade on preoperative computed tomography (CT) was reported in the abdominal aorta and superior mesenteric artery (SMA) as “absent”, “minor”, or “major”, and in the jejunal vascular arcade (JVA) and left inferior phrenic artery (LIPA) as “absent” or “present”. A Chi-square test was used to compare the variables between the two groups. p-Value < 0.050 was considered statistically significant. Among 30 patients, the numbers of patients with leak and stricture were 23 and seven, respectively. Aortic calcifications were not associated with EJA complications regardless of their grade (p = 0.440). Only major SMA calcifications were associated with EJA complications, as they were present in five patients (16.7%) in the complication group and absent in the non-complication group (p = 0.020). Major SMA calcifications were more related to anastomotic stricture than leak. Three (13.0%) out of 23 patients with leak and two (28.6%) out of seven with stricture had major SMA calcifications (p = 0.028). No calcifications were detected in the JVA or LIPA in any of the 60 patients. Major SMA calcifications were found to be associated with EJA complications, especially in stricture.
Topics: Anastomosis, Surgical; Constriction, Pathologic; Gastrectomy; Humans; Retrospective Studies; Stomach Neoplasms; Vascular Calcification
PubMed: 35621652
DOI: 10.3390/curroncol29050262 -
Digestive and Liver Disease : Official... Feb 2014Small bowel adenocarcinomas are rare tumours, but their incidence is increasing. Their most common primary location is the duodenum. The few studies that have collected... (Review)
Review
Small bowel adenocarcinomas are rare tumours, but their incidence is increasing. Their most common primary location is the duodenum. The few studies that have collected data regarding small bowel adenocarcinoma are not homogeneous and are widely spread over time. Even though these tumours are most often sporadic, some predisposing diseases have been identified, among which Crohn's disease and genetic syndromes. Early diagnosis of small bowel adenocarcinoma remains difficult despite significant radiological and endoscopic progress. After surgical resection the main prognostic factor is node invasion; in this case, adjuvant chemotherapy can be expected to be beneficial, although this has not been established by randomised trials. For metastatic disease, platinum-based chemotherapy seems to be the most effective treatment. Targeted therapies have not yet been evaluated in this type of cancer.
Topics: Adenocarcinoma; Adenomatous Polyposis Coli; Alcohol Drinking; Antineoplastic Combined Chemotherapy Protocols; Celiac Disease; Colorectal Neoplasms, Hereditary Nonpolyposis; Crohn Disease; Digestive System Surgical Procedures; Duodenal Neoplasms; Genetic Predisposition to Disease; Humans; Ileal Neoplasms; Jejunal Neoplasms; Peutz-Jeghers Syndrome; Prognosis; Risk Factors; Smoking
PubMed: 23796552
DOI: 10.1016/j.dld.2013.04.013 -
Cureus Dec 2020Gastrointestinal stromal tumours (GISTs) are considered the most common mesenchymal neoplasms of the alimentary tract, yet they account for only 0.2% of all...
Gastrointestinal stromal tumours (GISTs) are considered the most common mesenchymal neoplasms of the alimentary tract, yet they account for only 0.2% of all gastrointestinal neoplasms. We are presenting a case of a 68-year-old gentleman who was diagnosed with a 250 mm jejunal GIST only when he presented with abdominal pain and fullness in the upper abdomen. We believe that detailed medical history, followed by prompt investigations, will help in early diagnosis of small GISTs with less malignant potential, which in turn will lead to better outcomes.
PubMed: 33415061
DOI: 10.7759/cureus.11913 -
International Journal of Surgery... Jun 2015Reconstruction following total pharyngolaryngo-oesophagectomy (PLE) still challenges surgeons because of the extreme length of removed tissue. Gastric pull-up...
INTRODUCTION
Reconstruction following total pharyngolaryngo-oesophagectomy (PLE) still challenges surgeons because of the extreme length of removed tissue. Gastric pull-up reconstruction, one of the most common reconstructive methods after PLE, has many complications such as anastomotic fistula and gastric necrosis caused by the high anastomotic tension. However, modifications of gastric pull-up reconstruction aiming to reducing the high anastomotic tension have been less reported compared with other aspects with this technique. Here we report a modified gastric pull-up reconstruction combined with free jejunal transfer (FTJ) to reduce the anastomosis tension, and thus to reduce the risk of complications after PLE.
METHODS
Patients underwent a standard surgical procedure including total pharyngolaryngo-oesophagectomy and bilateral internal jugular lymph nodal clearance. A free jejunal graft about 10 cm was harvested and placed in the appropriate position between mobilized stomach and oropharynx. The anastomosis between the free jejunal graft and the gastric tube was created through a stapler. Vascular anastomosis was made between the jejunal artery and the transverse cervical artery, and between the jejunal vein and the internal jugular vein. Hand suturing technique was used in the anastomosis between jejunum and pharynx.
RESULTS
None of the patients suffered from any complications such as anastomotic fistula. Both patients resumed early postoperative oral intake. So far, they remain free of tumor recurrence and are in good health for 46 and 18 months, respectively.
CONCLUSION
Considering the tumor status and the patient condition, the gastric pull-up reconstruction combined with FJT after PLE could be a reliable choice.
Topics: Adult; Esophageal Neoplasms; Esophagectomy; Esophagoplasty; Female; Humans; Jejunum; Laryngeal Neoplasms; Laryngectomy; Male; Middle Aged; Pharyngeal Neoplasms; Pharyngectomy; Retrospective Studies; Stomach
PubMed: 25865081
DOI: 10.1016/j.ijsu.2015.03.025 -
Annals of the Royal College of Surgeons... Nov 2016Although sporadic lipomas are not uncommon in the upper gastrointestinal tract, diffuse gastroduodenal lipomatosis is a rare clinical entity. Medical literature reveals...
Although sporadic lipomas are not uncommon in the upper gastrointestinal tract, diffuse gastroduodenal lipomatosis is a rare clinical entity. Medical literature reveals a limited number of such cases presenting with upper gastrointestinal obstruction or bleeding. We present the management experience of a 43-year-old woman who presented with intussusception causing high small-bowel obstruction secondary to jejunal lipomatosis. Computed tomography showed diffuse fatty thickening of the gastric wall in addition to multiple lipomas in stomach, duodenum and in the jejunum with jejunal intussusception. As complete resection of the affected segment was not possible, a side-to-side jejunal bypass was made. The patient remains well on review after 18 months.
Topics: Adult; Duodenal Neoplasms; Female; Humans; Intussusception; Lipoma; Stomach Diseases; Stomach Neoplasms; Tomography, X-Ray Computed
PubMed: 27551904
DOI: 10.1308/rcsann.2016.0243