10 research outputs found

    Recurrent solitary fibrous tumor of lumbar spine with vertebral body involvement: imaging features and differential diagnosis with report of a case

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    AbstractSolitary fibrous tumors (SFTs) of the spine are exceedingly rare tumors of mesenchymal origin. Most spinal SFTs arise from the thoracic spine, followed by cervical spine, and last lumbar spine with only 6 cases reported in literature. SFTs represent a wide range of neoplasms, ranging from benign to malignant. These tumors can develop a late recurrence, even after a decade or more of initial presentation, requiring long-term follow-up. We present a case of recurrent SFT of the lumbar spine with vertebral body involvement, presenting more than a decade after initial resection. It was initially misdiagnosed as a paraganglioma. To the best of our knowledge, there have been only 3 previous cases reporting SFT with vertebral body involvement

    Genomic landscape of clinically advanced KRAS wild-type pancreatic ductal adenocarcinoma

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    IntroductionKRAS mutation is a common occurrence in Pancreatic Ductal Adenocarcinoma (PDA) and is a driver mutation for disease development and progression. KRAS wild-type PDA may constitute a distinct molecular and clinical subtype. We used the Foundation one data to analyze the difference in Genomic Alterations (GAs) that occur in KRAS mutated and wild-type PDA.MethodsComprehensive genomic profiling (CGP) data, tumor mutational burden (TMB), microsatellite instability (MSI) and PD-L1 by Immunohistochemistry (IHC) were analyzed.Results and discussionOur cohort had 9444 cases of advanced PDA. 8723 (92.37%) patients had KRAS mutation. 721 (7.63%) patients were KRAS wild-type. Among potentially targetable mutations, GAs more common in KRAS wild-type included ERBB2 (mutated vs wild-type: 1.7% vs 6.8%, p <0.0001), BRAF (mutated vs wild-type: 0.5% vs 17.9%, p <0.0001), PIK3CA (mutated vs wild-type: 2.3% vs 6.5%, p <0.001), FGFR2 (mutated vs wild-type: 0.1% vs 4.4%, p <0.0001), ATM (mutated vs wild-type: 3.6% vs 6.8%, p <0.0001). On analyzing untargetable GAs, the KRAS mutated group had a significantly higher percentage of TP53 (mutated vs wild-type: 80.2% vs 47.6%, p <0.0001), CDKN2A (mutated vs wild-type: 56.2% vs 34.4%, p <0.0001), CDKN2B (mutated vs wild-type: 28.9% vs 23%, p =0.007), SMAD4 (mutated vs wild-type: 26.8% vs 15.7%, p <0.0001) and MTAP (mutated vs wild-type: 21.7% vs 18%, p =0.02). ARID1A (mutated vs wild-type: 7.7% vs 13.6%, p <0.0001 and RB1(mutated vs wild-type: 2% vs 4%, p =0.01) were more prevalent in the wild-type subgroup. Mean TMB was higher in the KRAS wild-type subgroup (mutated vs wild-type: 2.3 vs 3.6, p <0.0001). High TMB, defined as TMB > 10 mut/mB (mutated vs wild-type: 1% vs 6.3%, p <0.0001) and very-high TMB, defined as TMB >20 mut/mB (mutated vs wild-type: 0.5% vs 2.4%, p <0.0001) favored the wild-type. PD-L1 high expression was similar between the 2 groups (mutated vs wild-type: 5.7% vs 6%,). GA associated with immune checkpoint inhibitors (ICPIs) response including PBRM1 (mutated vs wild-type: 0.7% vs 3.2%, p <0.0001) and MDM2 (mutated vs wild-type: 1.3% vs 4.4%, p <0.0001) were more likely to be seen in KRAS wild-type PDA

    Metastatic Melanoma of the Gallbladder in an Asymptomatic Patient

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    Malignant Melanoma (MM) is among the most dangerous malignancies with some of the least known survival rates. Melanoma most commonly metastasizes to regional lymph nodes, the lungs, and brain. Metastatic disease of the gallbladder (GB) is exceptionally rare making it difficult to diagnose. The fact that typically patients do not present until they are symptomatic—only after widespread metastatic disease has already occurred—is further complicating the diagnosis of MM of the GB. For this reason, MM of the GB is rarely discovered in living patients. In fact, review of the literature showed only 40 instances in which metastatic disease of the GB was reported in living patients. We describe the presentation and management of a patient who had metastatic disease of the GB. However, our case is unique because his malignancy was discovered incidentally while he was asymptomatic. He was successfully treated with an open cholecystectomy. We have presented this case in order to make the necessity of meticulous investigation of potential metastasis in patients with a known history of cutaneous melanoma clear

    Congenital Pulmonary Airway Malformation in an Adult Male: A Case Report with Literature Review

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    Congenital pulmonary airway malformation (CPAM) is a rare cystic lung lesion formed as a result of anomalous development of airways in fetal life. Majority of the cases are recognized in neonates and infants with respiratory distress with very few presenting later in adult life. A 24-year-old male with history of three separate episodes of pneumonia in the last 6 months presented with left sided pleuritic chest pain for 4 days. He was tachycardic and tachypneic at presentation. White blood count was 14 × 109/L. Chest X-ray showed left lower lobe opacity. CT angiogram of thorax showed a well-defined area of low attenuation in the left lower lobe with dedicated pulmonary arterial and venous drainage and resolving infection, suggesting CPAM. He underwent left lower lobe lobectomy. Histopathology confirmed type 2 CPAM. CPAM is a rare congenital anatomic abnormality that can present with recurrent infections in adults. As a number of cases remain asymptomatic and symptomatic cases are often missed, prevalence of CPAM might be higher than currently reported

    Molecular Targets in Salivary Gland Cancers: A Comprehensive Genomic Analysis of 118 Mucoepidermoid Carcinoma Tumors

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    Introduction: Salivary gland carcinomas (SGC) are histologically diverse cancers and next-generation sequencing (NGS) to identify key molecular targets is an important aspect in the management of advanced cases. Methods: DNA was extracted from paraffin embedded tissues of advanced SGC and comprehensive genomic profiling (CGP) was carried out to evaluate for base substitutions, short insertions, deletions, copy number changes, gene fusions and rearrangements. Tumor mutation burden (TMB) was calculated on approximately 1.25 Mb. Some 324 genes in the FoundationOne CDX panel were analyzed. Results: Mucoepidermoid carcinoma (MECa) mutations were assessed. CDKN2A and CDKN2B GA were common in mucoepidermoid carcinoma (MECa) (52.5 and 30.5%). PIK3CA was also common in MECa (16.9%). ERBB2 amplification/short variants (amp/SV) were found in MECa (5.9/0%). HRAS GA was common in MECa (14.4%) as well. Other targets, including BAP1, PTEN, and KRAS, were noted but had a low incidence. In terms of immunotherapy (IO)-predictive markers, TMB > 10 was more common in MECa (16.9%). PDL1 high was also seen in MECa (4.20%). Conclusion: SGC are rare tumors with no FDA-approved treatment options. This large dataset reveals many opportunities for IO and targeted therapy contributing to the continuously increased precision in the selection of treatment for these patients

    A buccal mucosal graft subcoronal resurfacing technique to treat recurrent penile adhesions: the buccal belt

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    Objective: To outline our step-by-step surgical technique using a subcoronal buccal mucosal graft (BMG) resurfacing technique for the treatment of recurrent penile adhesions. Methods: To perform the 'buccal belt' procedure a subcoronal circumferential segment of diseased skin was excised. An appropriately sized BMG was circumferentially secured subcoronally with a proximal and distal anastomosis to the edges of the wound. Quilting stitches were also placed to allow proper graft fixation. A petroleum jelly bolster was secured as a tie-over dressing. Patients were discharged with a Foley catheter and the bolster dressing in place. The bolster and Foley catheter were removed 7 days postoperatively. The patients were then seen for follow-up at 4- to 6-month intervals. A retrospective, international multi-institutional review was conducted to include all patients who underwent this procedure. Surgical complications, evidence of recurrence, and patient-reported outcome measures including visual analogue scale (VAS) and global response assessment (GRA) questionnaires were reviewed. Results: Thirty-one men underwent the procedure across six institutions between March 2014 and September 2020. The mean (range) surgical time was 59 (25-95) min. At the mean (range) follow-up of 27 (4-79) months all patients reported resolution of presenting symptoms and no recurrence of adhesions. The mean VAS score was 8.9 and 9.0 for aesthetics and functional outcomes, respectively. On GRA, overall improvement was reported by all patients (61%, +3; 25%, +2; 14%, +1). Conclusion: There are limited options for the treatment of recurrent penile adhesions. A subcoronal BMG resurfacing is feasible, with no recurrence and overall high satisfaction seen in an initial patient cohort.Sin financiación5.969 JCR (2021) Q1, 15/90 Urology & Nephrology1.472 SJR (2021) Q1, 6/108 UrologyNo data IDR 2021UE

    Mucoepidermoid carcinoma of the thymus incidentally diagnosed following two-years of non-productive cough

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    Mucoepidermoid carcinoma of the thymus is a rare primary thymic carcinoma. Radiologic imaging of this malignancy is rarely reported in literature. We present a patient who complained of a chronic cough for two years who was later found to have mucoepidermoid carcinoma of the thymus. Chest radiograph revealed a large anterior mediastinal mass. Follow-up computed tomography of the thorax demonstrated a large, heterogeneous anterior mediastinal mass with traversing vessels. F-18 fluorodeoxyglucose positron emission tomography-computed tomography demonstrated high avidity in the lesion with areas of diminished activity thought to represent necrosis. Following surgical resection, pathology revealed high-grade mucoepidermoid carcinoma of the thymus extending into the skeletal muscle and pericardium with evidence of lymphovascular invasion. The patient received external beam radiation therapy and has remained disease-free for three years

    Relapsed Wilms’ Tumor Presenting as Metastasis to the Zygoma

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    Wilms’ tumor accounts for the majority of renal tumors in children. Rarely, Wilms’ tumor may metastasize to the bone. We present a case of a 15-month-old female who presented with severe abdominal distension and signs of cachexia. Abdominal ultrasonography and radiography of the abdomen both demonstrated a large abdominal mass. Follow-up computed tomography of the abdomen revealed a heterogeneous intra-abdominal mass arising from the left kidney which was surrounded by a thin rim of renal parenchyma. Biopsy of the mass revealed findings consistent with Wilms’ tumor. The patient was 14 months status-post nephrectomy and chemoradiation but returned to the clinic with left facial swelling. Magnetic resonance imaging of the face demonstrated a multilobulated, heterogeneously enhancing solitary mass lesion in the left temple centered in the left zygoma with signs of bone breakdown. Despite its rarity, metastatic Wilms’ tumor to bone should be considered in a child presenting with a new focal mass overlying bony-structures

    Hypnosis-Assisted Awake Craniotomy for Eloquent Brain Tumors: Advantages and Pitfalls.

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    Awake craniotomy (AC) is recommended for the resection of tumors in eloquent areas. It is traditionally performed under monitored anesthesia care (MAC), which relies on hypnotics and opioids. Hypnosis-assisted AC (HAAC) is an emerging technique that aims to provide psychological support while reducing the need for pharmacological sedation and analgesia. We aimed to compare the characteristics and outcomes of patients who underwent AC under HAAC or MAC. We retrospectively analyzed the clinical, anesthetic, surgical, and neuropsychological data of patients who underwent awake surgical resection of eloquent brain tumors under HAAC or MAC. We used Mann-Whitney U tests, Wilcoxon signed-rank tests, and repeated-measures analyses of variance to identify statistically significant differences at the 0.05 level. A total of 22 patients were analyzed, 14 in the HAAC group and 8 in the MAC group. Demographic, radiological, and surgical characteristics as well as postoperative outcomes were similar. Patients in the HAAC group received less remifentanil (p = 0.047) and propofol (p = 0.002), but more dexmedetomidine (p = 0.025). None of them received ketamine as a rescue analgesic. Although patients in the HAAC group experienced higher levels of perioperative pain (p < 0.05), they reported decreasing stress levels (p = 0.04) and greater levels of satisfaction (p = 0.02). HAAC is a safe alternative to MAC as it reduces perioperative stress and increases overall satisfaction. Further research is necessary to assess whether hypnosis is clinically beneficial
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