Malignant Triton tumor in the retroperitoneal space associated with neurofibromatosis type 1: a case study

We report an extremely rare case of malignant Triton tumor developing in the retroperitoneal space in a patient with neurofibromatosis type 1. A 21-year old man who had been diagnosed with neurofibromatosis type 1 was admitted to our hospital with the chief complaint of a palpable abdominal mass. Abdominal computed tomography revealed a huge heterogeneous tumor measuring approximately 17 cm in diameter occupying the left retroperitoneal space, and numerous metastatic lesions between the left psoas muscle and the left thigh with dissolution of the left hip joint. After the diagnosis of a retroperitoneal malignant neurogenic tumor, resection of the tumor with reconstruction of the abdominal aorta was conducted, followed by postoperative transarterial infusion chemotherapy. The histopathological diagnosis was malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differentiation, namely malignant Triton tumor. Postoperative chemotherapy was in vain and the patient died 14 months after the surgery as a result of lung metastasis

Plexiform neurofibroma in the hepatic hilum associated with neurofibromatosis type 1: a case report

We present an extremely rare case of plexiform neurofibroma involving the hepatic hilum. A 24-year old woman who had been diagnosed with neurofibromatosis type 1 was referred to our hospital for evaluation of an abdominal mass found on computed tomography and progressive aggravation of intermittent abdominal pain. Abdominal computed tomography revealed a multilobulated non-enhancing mass involving the celiac trunk and hepatic artery, that extended to the hepatic hilum through the hepatoduodenal ligament. Magnetic resonance imaging showed the lesion extending along the intrahepatic Glisson's sheath. Based on the imaging findings, the patient was diagnosed to have a neu-rofibroma, although sarcomatous differentiation could not be excluded. The tumor was resected, leaving behind the intrahepatic extension, with the aim of alleviating the abdominal pain and preventing obstructive jaundice. Histopathological examination revealed the diagnosis of plexiform neurofibroma. At present, three years after the surgery, the patient remains symptom-free, without any evidence of recurrence

Genome–Wide Hypomethylation and Specific Tumor-Related Gene Hypermethylation are Associated with Esophageal Squamous Cell Carcinoma Outcome

IntroductionEsophageal squamous cell carcinoma (ESCC) is a cancer of variable outcomes with limited effective treatments resulting in poor overall survival (OS). Epigenetic alterations contributing to this deadly cancer type that can be used as novel therapeutic or diagnostic targets are still poorly understood.MethodsWe explored genome-wide DNA methylation data from The Cancer Genome Atlas project and identified a panel of tumor-related genes hypermethylated in ESCC. The methylation statuses of RASSF1, RARB, CDKN2A (p16INK4a, p14ARF), APC, and RUNX3 genes and long interspersed nucleotide element-1 (LINE-1) were validated in a large cohort (n = 140) of clinically well-annotated ESCC specimens and esophageal normal mucosa (n = 28) using a quantitative methylation-specific polymerase chain reaction.ResultsHypermethylation of RARB, p16INK4a, RASSF1, APC, RUNX3, and p14ARF were observed in 55%, 24%, 20%, 19%, 14%, and 8% of specimens, respectively. Hypermethylation of APC was significantly associated with tumor depth (p = 0.02) and American Joint Committee on Cancer stage (p = 0.03). Global DNA methylation level, assessed by LINE-1, was significantly lower in ESCC than in normal mucosa (p < 0.0001), and lower in greater than or equal to T2 (n = 69) than T1 tumors (n = 45; p = 0.03). There was a significant inverse correlation between LINE-1 and RARB methylation (p = 0.008). Importantly, hypermethylation of RASSF1 and APC genes was significantly associated with overall survival (OS; p = 0.006 and p = 0.007, respectively). In addition, patients with tumors containing a higher number of methylated genes (greater than two genes) presented worse OS (p = 0.003).ConclusionsThis study demonstrates that epigenetic alterations of a panel of tumor-related genes and the noncoding region LINE-1 can be used as prognostic indicators and help in clinical management of ESCC patients