Neurofibromatosis 1 (NF1) and gastrointestinal stromal tumors (GISTs): Five-year experience from a regional center in United Kingdom.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 11035-11035
Author(s):  
Venkata Ramesh Bulusu ◽  
Ruth Casey ◽  
Olivier Giger ◽  
Nicholas Carroll ◽  
Eamonn Maher
Keyword(s):  
United Kingdom ◽  
Small Bowel ◽  
Kinase Inhibitors ◽  
Spindle Cell ◽  
Incidental Finding ◽  
Tumour Size ◽  
Presenting Symptoms ◽  
Primary Gist ◽  
Age Of Diagnosis ◽  
One Year

11035 Background: NF1 is an inherited autosomal dominant condition characterised by multifocal neurofibromas, café au lait spots, Lisch nodules, freckling. GISTs are the most common mesenchymal tumour of the gastrointestinal tract occurring in NF1 patients. We present our 5 year experience of NF1 associated GISTs from a regional centre in United Kingdom. Methods: 15 patients with GISTs associated with NF1 syndrome were identified from the database. Clinical, pathological, molecular and treatment outcomes were analysed. Results: N = 15. Male-3 and female-12. Median age 46 years. 33% were multifocal and 67% unifocal. Primary site Stomach-6.6%, duodenum-33%, small bowel-67%, colon 6.6%. Presenting symptoms: Abdominal pain-47%, anemia/bleed-40% and incidental finding-13%. Tumour size 0.5-23 cm, median 9 cm. Mitotic index 0-15, median 4 mitoses/5mm2. Risk stratification-Low/intermediate risk 60% and high risk 40%. Histology was spindle cell in 87% and mixed in 13%. All GISTs were CD117 and DOG-1 +ve. SDHB expression was preserved in all GISTs. No activation mutations were detected in KIT (exons 9, 11, 13, 17), PDGFRA (exons 12, 14, 18) and BRAF. Treatment: 67% had the primary GIST resected. None had adjuvant imatinib. 6 patients had been treated with tyrosine kinase inhibitors. 1 partial response lasting < 3 months was observed with Imatinib. No durable responses were seen with Imatinib or Sunitinib or Regorafenib. All 5 patients with metastatic disease died within one year of diagnosis. Conclusions: GISTs associated with NF1 syndrome are rare. Median age of diagnosis is a decade earlier than KIT/PDGFRA mutated GISTs. We observed that NF1 associated GISTs occur predominantly in small bowel, are mostly spindle cell histology and have female preponderance. No durable responses were noted with Imatinib or Sunitinib or Regorafenib. There is an urgent need for systematic international collaboration to identify druggable pathways/targets in NF1 GISTs. Any trials should be multicentre/ multinational to expedite recruitment.

Sarcomatoid Carcinoma of the Small Intestine: A Case Report and Review of the Literature

2004 ◽  
Vol 128 (8) ◽  
pp. 918-921
Author(s):  
Michelle Reid-Nicholson ◽  
Muhammed Idrees ◽  
Giorgio Perino ◽  
Prodromos Hytiroglou
Keyword(s):  
Small Bowel ◽  
Epithelial Membrane Antigen ◽  
Spindle Cell ◽  
English Literature ◽  
Sarcomatoid Carcinoma ◽  
Giant Cells ◽  
Intestinal Wall ◽  
Cytokeratin 20 ◽  
Spindle Cells ◽  
Immunohistochemical Stains

Abstract Sarcomatoid carcinoma of the small bowel is rare; to our knowledge, 19 cases have been reported to date in the English literature under several names. We report an additional case occurring in the jejunum of a 55-year-old man. The tumor was a polypoid 7.5-cm mass, which infiltrated the full thickness of the intestinal wall and the serosa of an adhesed loop of small bowel. On microscopic examination, the neoplasm was composed of sheets of spindle cells; focally, an anaplastic component was present, including tumor giant cells with bizarre nuclei. On immunohistochemical stains, tumor cells were positive for cytokeratin 7, cytokeratin AE1/AE3, vimentin, and focally, epithelial membrane antigen. No staining for cytokeratin 20 was found. Sarcomatoid carcinoma must be kept in mind in the differential diagnosis of malignant spindle cell tumors of the small bowel. As consensus regarding the terminology of these rare tumors is being reached, immunohistochemical stains are essential for accurate diagnosis.

scholarly journals A Framework to Assess Fiscal Vulnerability: Empirical Evidence for European Union Countries

2018 ◽  
Vol 10 (7) ◽  
pp. 2482 ◽  
Author(s):  
Andreea Stoian ◽  
Laura Obreja Brașoveanu ◽  
Iulian Brașoveanu ◽  
Bogdan Dumitrescu
Keyword(s):  
European Union ◽  
United Kingdom ◽  
Sovereign Debt ◽  
Debt Crisis ◽  
First Year ◽  
Annual Data ◽  
Budget Balance ◽  
European Union Countries ◽  
One Year ◽  
Fiscal Distress

Following the financial crisis of 2007 and the sovereign debt crisis in 2010 that affected the soundness and reduced the strength of public finance in European countries, there has been a growing interest in developing methodologies to the help assess and signal the vulnerability of fiscal policy. Therefore, the aim of this study is to develop a new framework (V-L-D) to assess fiscal vulnerability. V-L-D represents a new methodology on the measurement of fiscal vulnerability that relies on the assumption that vulnerability can occur even during calm times. In comparison with previous methodologies that studied fiscal vulnerability around crisis and fiscal distress times, our framework investigates fiscal vulnerability near fiscal adjustments episodes. Our methodology relies on two distinct indicators: one showing the vulnerabilities indicated by the level of the cyclically adjusted budget balance and distance-to-stability, and one showing the vulnerabilities pointed out through the changes of the cyclically adjusted budget balance and public debt. V-L-D is able to classify fiscal vulnerability into five distinct categories having scores from 0 (no fiscal vulnerability) to 4 (extreme fiscal vulnerability). Using annual data ranging over 1990–2013 for 28 European Union countries, we evidenced 310 episodes of fiscal vulnerability, out of which 128 episodes of low vulnerability, 94 of moderate, 62 of strong, and 26 of extreme fiscal vulnerability. We also found that over 2004–2013, Greece, Portugal, Romania, United Kingdom, Ireland, Spain, and Slovenia were the most fiscally vulnerable countries in the Union. United Kingdom and Greece went through the longest episodes of fiscal vulnerability, counting 12 and 11 consecutive years, respectively. We tested our framework’s effectiveness against the Excessive Deficit Procedure. We found that the overall performance is good: V-L-D assessed moderate fiscal vulnerability during the procedure, strong fiscal vulnerability in the first year when procedure was initiated, and extreme vulnerability one year before the initiation.

scholarly journals Extranodal B Cell Lymphoma Spreading from Skin to Oral Cavity

2013 ◽  
Vol 4 (3) ◽  
pp. 126-128
Author(s):  
Anirudh Kaul ◽  
Parmod Kalsotra
Keyword(s):  
Oral Cavity ◽  
B Cell ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Response To Therapy ◽  
Presenting Symptoms ◽  
Large B Cell Lymphoma ◽  
Bony Involvement ◽  
One Year ◽  
Head Neck

ABSTRACT Non-Hodgkin's lymphoma (NHL) belongs to a group of lymphoid neoplasms that is diverse in manner of presentation, response to therapy and prognosis. Usually oral manifestations of NHL are secondary to a more widespread involvement throughout th e bo dy. Tho ugh primary in traoral lesio ns in NHL are uncommon, it is important to be aware of them, since intraoral manifestations are the presenting symptoms in these patients.2 A 58-year-old man presented to our Department with swelling in the vestibule of mouth. CT scan revealed a mass on upper gingival without any bony involvement. Incisional biopsy of the lesion showed diffuse large B cell lymphoma. The patient was treated successfully with chemotherapy. One year after complete remission, patient developed recurrence of primary tumor for which patient was again given chemotherapy treatment but had no significant benefit and succumb to the disease. How to cite this article Kaul A, Kalsotra P. Extranodal B Cell Lymphoma Spreading from Skin to Oral Cavity. Int J Head Neck Surg 2013;4(3):126-128.

scholarly journals SMALL BOWEL OBSTRUCTION SECONDARY TO OBTURATOR HERNIA: A PRE-OPERATIVE DIAGNOSIS AT COMPUTED TOMOGRAPHY

2021 ◽  
Vol 6 (1) ◽  
pp. 46-49
Author(s):  
Marlina Tanty Ramli ◽  
Mohd Shukry Mohd Khalid ◽  
Kartini Rahmat
Keyword(s):  
Computed Tomography ◽  
Small Bowel ◽  
Elderly Patients ◽  
Intestinal Obstruction ◽  
Small Bowel Obstruction ◽  
Bowel Obstruction ◽  
Surgical Intervention ◽  
Obturator Hernia ◽  
Uneventful Recovery ◽  
Presenting Symptoms

Obturator hernia is rare, but it must be considered in elderly patients who present with small bowel obstruction. The diagnosis is challenging unless there is a high index of suspicion as the presenting symptoms and signs are usually non-specific. Presence of positive Howship-Romberg sign is considered pathognomonic. Early diagnosis and rapid surgical intervention will reduce the high morbidity and mortality associated with undiagnosed obturator hernia. We report a case of a 93-year-old female patient who was admitted to our surgical department with symptoms of intestinal obstruction of 3-days duration. Howship-Romberg sign was negative. Computed tomography (CT) demonstrated the presence of left obturator hernia with proximal small bowel obstruction and no sign of strangulation. The patient had emergency laparotomy post-CT where the incarcerated bowel loop was released and the obstructed bowel was decompressed without any complication. The hernial defect was close with a mesh and the patient had an uneventful recovery post-surgery. In this case, we highlight that diagnosis of obturator hernia must always be considered in elderly patients who present with intestinal obstruction. Urgent CT could establish a rapid pre-operative diagnosis and aids inappropriate surgical intervention planning which is crucial in optimising the outcome.

scholarly journals HDR brachytherapy and supervoltage external beam therapy of cervical cancer: Protection of the intestinal tract during the treatment

2002 ◽  
Vol 10 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Sasa Ljubenkovic
Keyword(s):  
Small Bowel ◽  
Standard Technique ◽  
Acute Radiation ◽  
Watery Diarrhoea ◽  
Radiation Enteritis ◽  
High Dose ◽  
Non Invasive ◽  
Dose Volume ◽  
Patient Table ◽  
One Year

BACKGROUND: During radiotherapy in most of the irradiated patients occur the symptoms of acute radiation enteritis, less frequently cystitis or proctitis. The aim of this work was to apply non invasive exclusion methods to reduce the small bowel volume within the pelvic high dose volume and indirectly to reduce the number and severity of acute radiation enteritis METHODS: A total number of 183 patients were enrolled in our prospective randomised investigation we performed at the Clinic of Oncology in Knez Selo during one year. Ninety patients from E-group were irradiated with the standard technique two opposite parallel fields on the Mevatron-7445 linear accelerator (SIEMENS) patient-table, while 93 from C-group were irradiated under special conditions on our unique patient-table (PT) manufactured at our special demands by the Jugorendgen Ei-Ni? factory Brachytherapy was administered with RALT technique in both groups with isotope machine BUCHLER. RESULTS: Individual application of exclusion techniques led to protection of over 50% of the small bowel (118-1065 cm3) in 30/43 (70%) patients, and even in 10/43 (23%) more than 90% of the small bowel was protected (118-835 cm3), which would otherwise be irradiated with conventional techniques. None of the patients from E-group (out of 90) had more than 8 stools a day (G3), while in C-group there were 20 such cases Seventy-seven percent of the patients from E-group had formed stool, while the percent in C-group was 29. In C-group 40% of the patients had so called "watery stools"; in E-group the percent was 4. Out of 53 patients from K-group with mobile small bowel, 21 (40%) had "watery diarrhoea". CONCLUSION: Measures to prevent radiation enteritis should be taken before (surgical) or during (non invasive) radiotherapy. At the Clinic of Oncology in Knez Selo, individual application of small bowel exclusion techniques using the unique patient-table (JUGORENDGEN Ei-Ni?) led to protection of the small bowel during radiotherapy of uterine malignancies, which was reflected in a significantly reduced number and severity of acute enteritis symptoms.

Solitary neurofibroma of the larynx: a diagnostic challenge

2021 ◽  
Vol 14 (1) ◽  
pp. e236682
Author(s):  
Bruno Cunha ◽  
Ricardo Pacheco ◽  
Isabel Fonseca ◽  
Alexandra Borges
Keyword(s):  
Differential Diagnosis ◽  
Tumour Size ◽  
Negative Consequences ◽  
Diagnostic Challenge ◽  
Presenting Symptoms ◽  
Aged Woman ◽  
Complete Surgical Resection ◽  
Long Term Follow Up ◽  
Middle Aged Woman ◽  
Benign Nature

Solitary neurofibromas of the larynx are extremely rare, with a total of 15 cases described in the literature. Nonetheless, acquaintance with this diagnosis is important, as misdiagnoses can have negative consequences. Presenting symptoms are non-specific and depend on tumour size and location. As well-defined submucosal masses with a broad differential diagnosis, they remain a clinical and radiological challenge. While some characteristics might favour a benign nature and subtle signs might help narrow the differential diagnosis, imaging alone is not sufficient for differentiation and definitive diagnosis requires a biopsy. Complete surgical resection and long-term follow-up is indicated. We share our experience on a case of a solitary laryngeal neurofibroma in a middle-aged woman, presenting with a large well-defined paraglottic lesion.

Increased accuracy in MR diagnosis of uveal melanoma by carbohydrate loading

1998 ◽  
Vol 39 (3) ◽  
pp. 239-242
Author(s):  
K.-Å. Thuomas ◽  
P. Naeser ◽  
A. Wrigstad
Keyword(s):  
Uveal Melanoma ◽  
Spindle Cell ◽  
Spin Echo ◽  
Tumour Size ◽  
Relaxation Times ◽  
Fast Spin Echo ◽  
Subtraction Technique ◽  
Mixed Cell ◽  
Carbohydrate Loading ◽  
Fast Spin

Purpose: To evaluate patients with clinically diagnosed uveal melanoma Material and Methods: Forty-eight consecutive patients were examined with spin-echo (SE) and fast spin-echo (FSE) MR sequences that utilized glucosefructose enhancement together with a subtraction technique on a 1.5 T unit Results: Twenty-seven patients were enucleated and the eyes histologically examined for tumours (spindle cell, mixed cell, and epitheloid cell). The remaining patients were referred for other treatment. There were no significant differences in T2 although T2 was longer in the amelanotic lesions. Carbohydrate loading in combination with a subtraction technique gave: an increased signal intensity; a prolongation of T2; and an increased tumour size. The FSE sequences were as good as the SE sequences in the visualization of uveal malignant melanoma Conclusion: MR imaging performed with carbohydrate loading registers metabolic changes induced in the tumour. This gives the method great validity in the diagnosis of uveal melanoma. The method is especially useful in amelanotic tumours that have longer relaxation times than melanotic tumours. The SE technique can be replaced with the FSE technique

scholarly journals Routes to Diagnosis for Suspected Sarcoma: The Impact of Symptoms and Clinical Findings on the Diagnostic Process

Sarcoma ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-12 ◽  
Author(s):  
Heidi Buvarp Dyrop ◽  
Peter Vedsted ◽  
Mathias Rædkjær ◽  
Akmal Safwat ◽  
Johnny Keller
Keyword(s):  
Primary Care ◽  
Clinical Findings ◽  
Diagnostic Process ◽  
Time Intervals ◽  
Local Hospital ◽  
Doctor Visit ◽  
Presenting Symptoms ◽  
One Year ◽  
The Impact ◽  
Diagnostic Intervals

Background and Objectives. Sarcoma patients often experience delay before diagnosis. We examined the association between presenting symptoms/signs and time intervals for suspected sarcoma patients.Methods. 545 consecutive patients suspected for sarcoma referred over a one-year period were included. Median time intervals in routes to diagnosis were collected from medical records and questionnaires.Results. 102 patients (18.7%) had a sarcoma; 68 (12.5%) had other malignancies. Median interval for the patient (time from first symptom to first doctor visit), primary care, local hospital, sarcoma center, diagnostic, and total interval for sarcoma patients were 77, 17, 29, 17, 65, and 176 days, respectively. Sarcoma patients visited more hospital departments and had longer median primary care (+10 days) and diagnostic intervals (+19 days) than patients with benign conditions. Median primary care (−19 days) and sarcoma center (−4 days) intervals were shorter for patients with a lump versus no lump. Median patient (+40 days), primary care (+12 days), diagnostic (+17 days), and total intervals (+78 days) were longer for patients presenting with pain versus no pain. GP suspicion of malignancy shortened local hospital (−20 days) and total intervals (−104 days).Conclusions. The main part of delay could be attributed to the patient and local hospitals. Length of time intervals was associated with presenting symptoms/signs and GP suspicion.

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