Occult solitary submucosal jejunal metastasis from esophageal carcinoma

BACKGROUND: Metastatic tumors of the intestinal tract from extra-abdominal sites are rare. In esophageal cancer, the liver, lung and the bones are the most common sites of metastases. Metastasis to intestines are very rare. CASE PRESENTATION: A 54-year old male was admitted with esophageal squamous cell carcinoma (SCC) associated with dysphagia II-III and weight loss of 20 kg. Preoperative routine staging failed to detect any metastases. A transthoracic esophagectomy and orthotopic gastric pull-up with collar esophago-gastrostomy, associated with 2-field lymphadenectomy was perfromed. During the digital placement of the naso-jejunal feeding catheter a submucosal jejunal nodule with a diameter of 1 cm, about 40 cm distal to the duodeno-jejunal fold was detected which was completely resected by jejunotomy. Histopathology of jejunal nodule showed metastasis from esophageal squamous cell carcinoma. CONCLUSION: Because of the extensic esophageal lymphatic system, an occult widespread dissemination of the tumor cells into the abdominal cavity is possible. Additional intraoperative evaluation of the small intestine and the complete abdominal cavity should be performed in every operation of esophageal carcinoma to detect possible occult intraabdominal metastases

Detection of GNAS mutations in intramuscular / cellular myxomas as diagnostic tool in the classification of myxoid soft tissue tumors

Abstract Background Intramuscular / cellular myxomas and low-grade myxofibrosarcomas are two different tumor entities with a significant histological overlap, especially if dealing with small biopsies. Despite the morphological similarities, they differ considerably in their biological behaviour. Intramuscular / cellular myxoma rarely shows signs of recurrence and never metastasizes, in contrast to myxofibrosarcoma that tends to recur more aggressively and to metastasize haematologically. Therefore, it is of great importance to distinguish these lesions - evaluation of GNAS mutation status could be of tremendous help. Methods We reviewed 13 cases with intramuscular / cellular myxomas. The 13 cases included 5 men and 8 women, aged from 33 to 71 years (mean age 55.5 years). Immunohistochemistry was performed as well as next generation sequencing. Ten cases were located in the lower extremities and three cases were located in the upper extremities. Two lesions were initially misdiagnosed as a low-grade myxofibrosarcoma. Results Performing next generation sequencing 12 out of 13 specimens showed a GNAS mutation. Conclusions Our findings demonstrate that GNAS mutations are more common in intramuscular / cellular myxomas, than had been reported in literature in the past. Next generation sequencing for determining GNAS mutation status on small biopsies or diagnostically challenging cases facilitates the diagnosis of intramuscular / cellular myxoma and separates this tumor entity from its mimics

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology

Due to the success story of biomarker-driven targeted therapy, most NSCLC guidelines agree that molecular reflex testing should be performed in all cases with non-squamous cell carcinoma (non-SCC). In contrast, testing recommendations for squamous cell carcinoma (SCC) vary considerably, specifically concerning the exclusion of patients of certain age or smoking status from molecular testing strategies. We performed a retrospective single-center study examining the value of molecular reflex testing in an unselected cohort of 316 consecutive lung SCC cases, tested by DNA- and RNA-based next-generation sequencing (NGS) at our academic institution between 2019 and 2023. Clinicopathological data from these cases were obtained from electronic medical records and correlated with sequencing results. In 21/316 (6.6%) cases, we detected an already established molecular target for an approved drug. Among these were seven cases with an EGFR mutation, seven with a KRAS G12C mutation, four with an ALK fusion, two with an EGFR fusion and one with a METex14 skipping event. All patients harboring a targetable alteration were >50 years of age and most of them had >15 pack-years, questioning restrictive molecular testing strategies. Based on our real-world data, we propose a reflex testing workflow using DNA- and RNA-based NGS that includes all newly diagnosed NSCLC cases, irrespective of histology, but also irrespective of age or smoking status