A rare case of omental extra-gastrointestinal stromal tumor showing two coexisting mutations on exon 14 of the PDGFRA gene

Gastrointestinal stromal tumors (GISTs) are neoplasms arising from mesenchymal cells localized into the muscularis propria of the gastrointestinal (GI) tract [1]; 5% of GISTs are extra-GISTs (EGISTs), as they differently originate from adipose tissue adjacent to the GI tract (omentum and mesentery) or from the pancreas [2]. So far, both GISTs and EGISTs have been managed indistinctively by combining surgery, histopathological distinctive features, imaging, and molecular analysis. Moreover, despite the contribution of defined genetic backgrounds whose influence is acknowledged in this type of tumor (i.e. Carney’s triad or familiar form of GIST), the pathobiology of both GISTs and EGISTs is not yet fully understood. We describe an interesting case of an extensively diffuse EGIST involving only omentum and mesocolon with multinodular growth and peculiar histological features, and for which a deeper histopathological/ molecular analysis is reported. Case presentation A 74-year-old female with a historical diagnosis of multiple myeloma was referred for anemia, alvus disorders (diarrhea and constipation), weight loss (15 kg in 6 months), and palpable mass of the right flank that had appeared 8 weeks before. On medication for multiple myeloma since 2016 (melphalan combined with prednisone and bortezomib9; carfilzomib/lenalidomide/ desametasone6 until complete remission), she also had type II diabetes, treated with oral medications and open cholecystectomy in the 1980s. Physical examination revealed the presence of a large mobile non-painful mass in the right flank apparently from the right colon, without signs of occlusion or intestinal bleeding. Blood analysis showed: hemoglobin 7.9 g/dL, white blood cells 2.3103/lL, glycemia 191 mg/dL, and a low potassium level of 2.8 mEq/L. We first treated the glycemia by insulin infusion and, second, we investigated the signs of anemia. By lower GI Submitted: 14 May 2020; Revised: 20 July 2020; Accepted: 28 July 202

Serum amino acid profiles in normal subjects and in patients with or at risk of Alzheimer dementia

Background/Aims: Abnormalities in the plasma amino acid profile have been reported in Alzheimer disease (AD), but no data exist for the prodromal phase characterized by subjective memory complaint (SMC). It was our aim to understand if serum amino acid levels change along the continuum from normal to AD, and to identify possible diagnostic biomarkers. Methods: Serum levels of 15 amino acids and 2 organic acids were determined in 4 groups of participants – 29 with probable AD, 18 with mild cognitive impairment (MCI), 24 with SMC, and 46 cognitively healthy subjects (HS) – by electrospray tandem mass spectrometry. Results: Glutamate, aspartate, and phenylalanine progressively decreased, while citrulline, argi­ninosuccinate, and homocitrulline progressively increased, from HS over SMC and MCI to AD. The panel including these 6 amino acids and 4 ratios (glutamate/citrulline, citrulline/phenylalanine, leucine plus isoleucine/phenylalanine, and arginine/phenylalanine) discriminated AD from HS with about 96% accuracy. Other panels including 20 biomarkers discriminated SMC or MCI from AD or HS with an accuracy ranging from 88 to 75%. Conclusion: Amino acids contribute to a characteristic metabotype during the progression of AD along the continuum from health to frank dementia, and their monitoring in elderly individuals might help to detect at-risk subjects

The evolving landscape in the management of gastric metastases from melanoma: a case series

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Consolidative thoracic radiation therapy for extensive-stage small cell lung cancer in the era of first-line chemoimmunotherapy: preclinical data and a retrospective study in Southern Italy

BackgroundConsolidative thoracic radiotherapy (TRT) has been commonly used in the management of extensive-stage small cell lung cancer (ES-SCLC). Nevertheless, phase III trials exploring first-line chemoimmunotherapy have excluded this treatment approach. However, there is a strong biological rationale to support the use of radiotherapy (RT) as a boost to sustain anti-tumor immune responses. Currently, the benefit of TRT after chemoimmunotherapy remains unclear. The present report describes the real-world experiences of 120 patients with ES-SCLC treated with different chemoimmunotherapy combinations. Preclinical data supporting the hypothesis of anti-tumor immune responses induced by RT are also presented.MethodsA total of 120 ES-SCLC patients treated with chemoimmunotherapy since 2019 in the South of Italy were retrospectively analyzed. None of the patients included in the analysis experienced disease progression after undergoing first-line chemoimmunotherapy. Of these, 59 patients underwent TRT after a multidisciplinary decision by the treatment team. Patient characteristics, chemoimmunotherapy schedule, and timing of TRT onset were assessed. Safety served as the primary endpoint, while efficacy measured in terms of overall survival (OS) and progression-free survival (PFS) was used as the secondary endpoint. Immune pathway activation induced by RT in SCLC cells was explored to investigate the biological rationale for combining RT and immunotherapy.ResultsPreclinical data supported the activation of innate immune pathways, including the STimulator of INterferon pathway (STING), gamma-interferon-inducible protein (IFI-16), and mitochondrial antiviral-signaling protein (MAVS) related to DNA and RNA release. Clinical data showed that TRT was associated with a good safety profile. Of the 59 patients treated with TRT, only 10% experienced radiation toxicity, while no ≥ G3 radiation-induced adverse events occurred. The median time for TRT onset after cycles of chemoimmunotherapy was 62 days. Total radiation dose and fraction dose of TRT include from 30 Gy in 10 fractions, up to definitive dose in selected patients. Consolidative TRT was associated with a significantly longer PFS than systemic therapy alone (one-year PFS of 61% vs. 31%, p<0.001), with a trend toward improved OS (one-year OS of 80% vs. 61%, p=0.027).ConclusionMulti-center data from establishments in the South of Italy provide a general confidence in using TRT as a consolidative strategy after chemoimmunotherapy. Considering the limits of a restrospective analysis, these preliminary results support the feasibility of the approach and encourage a prospective evaluation