The acceptability, safety, and efficacy of needle-free jet anesthetic technique (MadaJet) versus conventional needle injection for sperm retrieval

Abstract

OBJECTIVE: Although uterine leiomyomas (LM) and leiomyosarcomas (LMS) are considered biologically unrelated tumors, both share morphological and histological characteristics that complicate their differential diagnosis. The development of accurate and non-invasive differential diagnostic methods in patients with surgical indication is urgently needed. Here, we aim to identify targetable mutations in LMS vs LM using Next Generation Sequencing (NGS) to advance our knowledge in their differential diagnosis. DESIGN: Research clinical study analysing tumour specimens (n¼21) from patients diagnosed with uterine LM and/or LMS. MATERIALS AND METHODS: Targeted sequencing of DNA and RNA coding regions for 170 solid tumours associated-genes (TST170, Illumina, USA) was performed on formalin-fixed, paraffin-embedded (FFPE) samples from LM and LMS specimens. DNA sequencing data were assessed by TST170 DNA analysis workflow to identify copy number variations (CNVs), single nucleotide variants (SNVs) and small insertions/deletions (indels). TST170 RNA analysis workflow was also used to get gene expression profile as well as gene fusions and splice variants. RESULTS: Tumor mutation burden was higher in terms of CNVs, SNVs, indels, and gene fusions in LMS vs LM specimens. For CNVs, 17 genes were affected by deletions in LMS samples, compared to 5 observed losses in LM. Gains (duplications) were also more frequently identified in LMS, present in 13 genes vs 1 gene with duplication within LM cohort. The most common e64