Case Report: Analysis of Circulating Tumor Cells in a Triple Negative Spindle-Cell Metaplastic Breast Cancer Patient

Circulating tumor cells (CTCs) are a rare population of cells found in the bloodstream and represent key players in the metastatic cascade. Their analysis has proved to provide further core information concerning the tumor. Herein, we aim at investigating CTCs isolated from a 32-year-old patient diagnosed with triple negative spindle-shaped metaplastic breast cancer (MpBC), a rare tumor poorly responsive to therapies and with a dismal prognosis. The molecular analysis performed on the primary tumor failed to underline effective actionable targets to address the therapeutic strategy. Besides the presence of round-shaped CTCs, cells with a spindle shape were present as well, and through molecular analysis, we confirmed their malignant nature. This aspect was coherent with the primary tumor histology, proving that CTCs are released regardless of their morphology. Copy number aberration (CNA) profiling and variant analysis using next-generation sequencing (NGS) showed that these cells did not harbor the alterations exhibited by the primary tumor (PIK3CA G1049A mutation, MYC copy number gain). However, despite the great heterogeneity observed, the amplification of regions involved in metastasis emerged (8q24.22–8q24.23). Our findings support the investigation of CTCs to identify alterations that could have a role in the metastatic process. To the best of our knowledge, this is the first examination of CTCs in an MpBC patient

Normative data and construct validity of a cross-linguistic functional speech outcome, the Intelligibility in Context Scale: Italian (ICS–I)

Objectives: The Intelligibility in Context Scale (ICS) is a parent-report scale, world-wide translated and widely validated, by which parents can rate their child's functional speech intelligibility according to seven different communicative partners. The study aimed to report and discuss the normative data of the Italian version of ICS (ICS\u2013I) in Italian-speaking preschool children, and to investigate whether the age influences the ICS-I scores (construct validity). Socio-economic status (SES) of the family were investigated and compared to parents' ratings on child's speech intelligibility. Methods: A cross-sectional observational study was conducted. Italian-speaking children aged 3\u20136 years (n = 355; mean age = 56.06 months; SD = 9.8 months), without major developmental impairment, were recruited in kindergartens throughout a convenience sampling. Parents completed a self-report form on their family SES (educational level and employment status of fathers and mothers). Children were independently rated by their mothers (ICS-Im) and fathers (ICS-If). Results: Results show that ICS normative data for the Italian preschool population (ICS-Im = 4.52; SD = 0.46; ICS-If = 4.47; SD = 0.49) are consistent with previous evidence found in other languages, suggesting that ICS could be a potential cross-linguistic tool to assess functional intelligibility. A statistically significant (p < 0.001) improvement in ICS-I score was found with increase of age (construct validity). No evidence of association (p > 0.05) with ICS-I was found for SES family. Conclusion: The study provides normative data of the functional intelligibility assessed by a subjective parental scale. As for other previous international studies, ICS-I normative data suggest that a preschool child without major impairment shows a high degree of speech intelligibility, even if minimal differences of intelligibility are reported for different communicative partners. The current findings support clinicians and researchers in implementing ICS-I in typical and also in atypical population with different SES background and promoting its application as a potential outcome measure in children with Speech Sound Disorders

Postoperative Imaging Of Sarcomas

OBJECTIVE. The purpose of this article is to assist radiologists in developing an organized, systematic approach to imaging interpretation in the care of patients who have been surgically treated for sarcoma. CONCLUSION. Postoperative imaging interpretation of sarcoma can be complex and requires an organized, systematic approach that includes review of the patient’s clinical and surgical history and pretreatment images to gain context for differentiating recurrence from time-dependent posttreatment changes

Clinicopathological Features of Non-Small Cell Lung Carcinoma with BRAF Mutation

(1) Background: BRAF mutations affect 4–5% of lung adenocarcinomas. This study aimed to analyze the clinicopathological features of lung carcinomas with BRAF mutations, focusing on V600E vs. non-V600E and the presence of co-mutations. (2) Methods: All BRAF-mutated lung carcinomas were retrieved from a molecular diagnostic unit (the reference unit for four different hospitals). The samples were analyzed using next-generation sequencing. Statistical analyses included log-rank tests for overall survival (OS) and progression-free survival (PFS). (3) Results: In total, 60 BRAF-mutated lung carcinomas were retrieved: 24 (40.0%) with V600E and 36 (60.0%) with non-V600E mutations, and 21 (35.0%) with other co-mutations and 39 (65.0%) with only BRAF mutations. Survival data were available for 54/60 (90.0%) cases. Targeted therapy was documented in 11 cases. Patients with V600E mutations exhibited a better prognosis than patients with non-V600E mutations (p = 0.008 for OS, p = 0.018 for PFS); this was confirmed in PFS (p = 0.036) when considering only patients who received no targeted therapy. Patients with co-mutations displayed no prognostic difference compared to patients carrying only BRAF mutations (p = 0.590 for OS, p = 0.938 for PFS). (4) Conclusions: BRAF-mutated lung carcinomas with V600E (40.0%) had a better prognosis than those without V600E. Concomitant co-mutations (35.0%) did not affect the prognosis

Ct And Mr Imaging Of The Postoperative Ankle And Foot

A variety of surgical procedures exist for repair of both traumatic and degenerative osseous and soft-tissue pathologic conditions involving the foot and ankle. It is necessary for the radiologist to be familiar with these surgical procedures, so as to assess structural integrity, evaluate for complicating features, and avoid diagnostic pitfalls. Adequate interpretation of postoperative changes often requires access to surgical documentation to evaluate not only the surgery itself but the expected timeline for resolution of normal postoperative changes versus progressive disease. Appropriate use of surgical language in radiology reports is another important skill set to hone and is instrumental in providing a high-quality report to the referring surgeons. The pathophysiology of a myriad of surgical complaints, beginning from the Achilles tendon and concluding at the plantar plate, are presented, as are their common appearances at computed tomography and magnetic resonance imaging. Commonly encountered entities include Achilles tendon tear, spastic equinus, nonspastic equinus, talar dome osteochondral defect, tarsal tunnel syndrome, plantar fasciitis, pes planovalgus, pes cavovarus, peroneal tendinosis, lateral ligament complex pathology, Morton neuroma, plantar plate tear, and metatarsophalangeal joint instability. Computer-generated three-dimensional models are included with many of the procedures to provide a more global view of the surgical anatomy. Correlation with intraoperative photographs is made when available. When appropriate, discussion of postoperative complications, including entities such as infection and failure of graft integration, is presented, although a comprehensive review of postoperative complications is beyond the scope of this article. Notably absent from the current review are some common foot and ankle procedures including hallux valgus and hammertoe corrections, as these are more often evaluated radiographically than with cross-sectional imaging

Histopathology of Celiac Disease. Position Statements of the Italian Group of Gastrointestinal Pathologists (GIPAD-SIAPEC)

: Celiac Disease (CeD) is an immune-mediated inflammatory disorder of the small intestine, affecting genetically susceptible individuals when exposed to gluten. Small intestinal biopsy interpretation has been the "gold standard" for celiac disease (CeD) for over 50 years. Despite today's availability of sensitive and specific serological tests, the histopathological features from mucosal biopsy play a key role in diagnosing when CeD is suspected. Such a diagnostic approach requires a multidisciplinary team to optimize both tissue sampling and interpretation via the interaction between the pathologist and the gastroenterologist. Pathologists of the Italian Group of Gastrointestinal Pathology (GIPAD-SIAPEC), together with a member (TR) of the Italian Society of Technicians (AITIC) and an expert gastroenterologist (CC), provide position statements as a practical tool for reading and interpreting the report. Moreover, a position statement was formulated about the recently described condition known as Non-Celiac Gluten Sensitivity (NCGS). Within such a diagnostic setting, both the architectural abnormalities of the duodenal mucosa, namely glandular hyperplasia, and villous atrophy and the number of intraepithelial T-lymphocytes should be well highlighted. Ancillary tests such as anti-CD3 stain are useful for an accurate count of the intraepithelial T lymphocytes when CeD or NCGS is suspected. Moreover, anti-CD3 and anti-CD8 stains are recommended in patients not responding to the gluten-free diet (GFD) to confirm a diagnosis of Refractory Celiac Disease (RCeD). Diagnostic clues about the differential diagnosis of both CeD and RCeD have also been rendered