Primary malignant melanoma of esophagus is very rare, and its clinicopathologic and genetic features have not been extensively investigated. In this study, 20 tumors from 14 male and 6 female patients (40-79 years old) were evaluated. Dysphagia, chest pain, and weight loss were frequent symptoms. Thirteen melanomas, including two with multiple lesions, involved the distal third of esophagus. The median tumor diameter was 6 cm. Epithelioid morphology, moderate atypia, and pigmentation were typical findings. None of the patients had melanoma elsewhere, and all tumors exhibited a junctional peri-epithelial component consistent with a primary lesion. The median mitotic activity was 11 per 10 high-power fields (range, 0-31). Nine patients died of tumor within 4-22 months, however, two showed long-term (96 and 104 months) survival. In 15 cases, tissue for further immunohistochemical and molecular studies were available. BRAF, KIT, and NRAS mutation status was assessed by Sanger sequencing in all 15 tumors. The next-generation sequencing of 50 or 409 genes was performed in five and three cases, respectively. IGF1R expression indicating activation of the IGF axis was seen in 82% (9/11) of tumors. However, no BRAF mutations were identified. In 33% (5/15) of tumors, NRAS mutations were detected. KIT expression was seen in 50% (7/14) of melanomas including single KIT mutant. Two of three tumors evaluated with 409 genes panel revealed multiple driver mutations indicating sub-clonal expansion, whereas a single mutation (TSC1 p.H371Q) was the sole change in the third case. SF3B1 p.K666T and p.R625C mutations were detected in two cases. However, no co-occurrence of SF3B1 and GNAQ or GNA11 mutations, seen in uveal melanoma, was detected. FBXW7 p.R465C and p.R479G mutations, linked to cancer progression, were found in two of eight tumors. In summary, esophageal melanoma mutation profile indicates complexity of molecular mechanisms underlying its pathogenesis.
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http://dx.doi.org/10.1038/s41379-018-0163-y | DOI Listing |
Clin Transl Oncol
December 2024
Lillian S Wells Department of Neurosurgery at the University of Florida: University of Florida Lillian S Wells Department of Neurosurgery, Gainesville, FL, USA.
Glioblastoma (GBM) is one of the most common primary malignant brain tumors. Annually, there are about six instances recorded per 100,000 inhabitants. Treatment for GB has not advanced all that much.
View Article and Find Full Text PDFDiscov Oncol
December 2024
Department of Neurosurgery, West China Hospital of Sichuan University, No. 37, Guoxue Lane, Wuhou District, Chengdu, China.
Background: Gliomas, particularly glioblastoma (GBM), are the most common and aggressive primary brain tumors in adults, characterized by high malignancy and frequent recurrence. Despite standard treatments, including surgery, radiotherapy, and chemotherapy, the prognosis for GBM remains poor, with a median survival of less than 15 months and a five-year survival rate below 10%. Tumor heterogeneity and resistance to treatment create significant challenges in controlling glioma progression.
View Article and Find Full Text PDFSupport Care Cancer
December 2024
Physical Therapy Program, Medical Science Campus, University of Puerto Rico, P.O. Box 365967, San Juan, Puerto Rico, 00936-5067, USA.
Purpose: Compare the effects of low-intensity and moderate-intensity exercise on physical functioning in breast cancer survivors.
Methods: Women aged 50 + years and post-primary treatment for stage 0 to III breast cancer were randomly assigned to a 6-month low-intensity (LIG) or moderate-intensity (MIG) exercise group. Participants were instructed to walk (low- or moderate-intensity) for 30 min five days a week, followed by flexibility exercises, and do strengthening and balance exercises twice weekly.
J Clin Immunol
December 2024
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna, Bologna, Italy.
Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).
Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.
Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.
World J Urol
December 2024
Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, 100034, China.
Objective: To develop a three-dimensional (3D) image based extended tumor plane technique for robotic-assisted partial nephrectomy (RAPN).
Methods: We prospectively enrolled patients with a local renal tumor for RAPN between March 2019 and Mar 2022. 3D virtual model was reconstructed based on the computed tomography urography.
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