Publications by authors named "M Simbolo"
Glucagon-Producing Pancreatic Neuroendocrine Tumors (Glucagonomas) are Enriched in Aggressive Neoplasms with ARX and PDX1 Co-expression, DAXX/ATRX Mutations, and ALT (Alternative Lengthening of Telomeres).
Endocr Pathol
December 2024
Article Synopsis
- Glucagonomas are special tumors in the pancreas that cause a syndrome and were studied in six patients to understand their features better.
- These tumors were mostly large and showed a common skin symptom called necrolytic migratory erythema in all patients.
- The tumors had specific changes in their genes and were linked to serious aggressive behavior, which means they can spread or grow badly in some patients.
Introduction: To date, for all non-small cell lung cancer (NSCLC) cases, it is recommended to test for driver alterations to identify actionable therapeutic targets. In this light, comprehensive genomic profiling (CGP) with next generation sequencing (NGS) has progressively gained increasing importance in clinical practice. Here, with the aim of assessing the distribution and the real-world frequency of gene alterations and their correlation with patient characteristics, we present the outcomes obtained using FoundationOne (F1CDx) and FoundationLiquid CDx (F1L/F1LCDx) NGS-based profiling in a nationwide initiative for advanced NSCLC patients.
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- A study investigates a rare type of cholangiocarcinoma (CCA) with atypical histological features and adenofibromatous lesions, focusing on 8 biliary tumors.
- The tumors exhibited a unique tubulocystic structure reminiscent of certain kidney cancers and were mostly found in older males and females, with a mean size of 4.4 cm and notable histological characteristics, including perineural invasion in one case.
- Genetic analysis revealed shared mutations in chromatin remodeling genes and an actionable fusion gene, leading to the proposal of a new classification termed "tubulocystic carcinoma of bile ducts."
Background: High-grade gastro-entero-pancreatic neoplasms (HG GEP-NENs) can be stratified according to their morphology and Ki-67 values into three prognostic classes: neuroendocrine tumors grade 3 (NETs G3), neuroendocrine carcinomas with Ki-67 < 55% (NECs <55) and NECs with Ki-67 ≥ 55% (NECs ≥55).
Methods: We analyzed a cohort of 49 HG GEP-NENs by targeted Next-Generation Sequencing (TrueSight Oncology 500), RNA-seq, and immunohistochemistry for p53, Rb1, SSTR-2A, and PD-L1.
Results: Frequent genomic alterations affected TP53 (26%), APC (20%), KRAS and MEN1 (both 11%) genes.
Pulmonary large cell carcinoma (LCC) is an undifferentiated neoplasm lacking morphological, histochemical, and immunohistochemical features of small cell lung cancer, adenocarcinoma (ADC), or squamous cell carcinoma (SCC). The available molecular information on this rare disease is limited. This study aimed to provide an integrated molecular overview of 16 cases evaluating the mutational asset of 409 genes and the transcriptomic profiles of 20,815 genes.
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