Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report.

The Lynch syndrome (LS) is an autosomal dominant condition usually characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes. Despite the guidelines now available, determining the pathogenicity of rare variants remains challenging, as the clinical significance of a genetic variant could be uncertain, but it may represent a disease-associated variation in the aforementioned genes. In this case report we will describe the case of a 47 years-old female affected by endometrial cancer (EC) with an extremely rare germline heterozygous variant in the MSH2 gene (c.562G > T p. (Glu188Ter), exon 3) that is likely pathogenic, and a family history consistent with LS.

Whole-body MRI with diffusion-weighted imaging: a valuable alternative to contrast-enhanced CT for initial staging of aggressive lymphoma.

AIM: To compare the accuracy of whole-body magnetic resonance imaging (Wb-MRI) with diffusion-weighted imaging (DWI) to that of contrast-enhanced computed tomography (CE-CT) and 2-[(18)F]-fluoro-2-deoxy-d-glucose ((18)F-FDG) positron-emission tomography co-registered with low dose-CT (PET-CT) in defining lymphoma disease stage. MATERIALS AND METHODS: From February 2010 to May 2014, 41 lymphoma patients underwent Wb-MRI-DWI, CE-CT, and (18)F-FDG PET-CT. Histological subtypes included aggressive B-cell (n=11), follicular (n=13), mantle cell (n=3), and Hodgkin's (n=14) lymphoma. To compare the procedures, the reference standard (RS) assessment was defined by combining the results from (18)F-FDG PET-CT, CE-CT, and bone marrow (BM) histology, modifications after therapy, and histological re-assessments of uncertain lesions. RESULTS: Among 1025 nodal sites, 217 had disease involvement according to the RS. CE-CT yielded 23 false-negative and 11 false-positive errors. Wb-MRI-DWI failed to recognise 17 localisations and had six false-positive errors; (18)F-FDG PET-CT had no errors. Among 458 extranodal sites, 37 were positive according to the RS. (18)F-FDG PET-CT yielded four false-negative and two false-positive results. CE-CT yielded 17 false-negative errors. Wb-MRI-DWI yielded a single false-negative error. Wb-MRI-DWI was the most reliable imaging technique for BM evaluation. Considering each procedure alone, the final stage would have been missed in four cases using (18)F-FDG PET-CT, 12 cases using CE-CT, and none using Wb-MRI-DWI. CONCLUSION: The present data support Wb-MRI-DWI as a sensitive and specific imaging technique for lymphoma evaluation, supporting its use in place of CE-CT for staging.

Supratracheal laryngectomy: current indications and contraindications.

Cancer of the larynx in the intermediate/advanced stage still presents a major challenge in terms of controlling the disease and preserving the organ. Supratracheal partial laryngectomy (STPL) has been described as a function-sparing surgical procedure for laryngeal cancer with sub-glottic extension. The aim of the present multi-institutional study was to focus on the indications and contraindications, both local and general, for this type of surgery based on the long-term oncological and functional results. We analysed the clinical outcomes of 142 patients with laryngeal cancer staged pT2-pT4a who underwent STPL. Five-year overall survival (OS), disease-specific survival (DSS), disease-free survival (DFS) and loco-regional control (LRC) rates were: glottic pT2 [71.4%, 95.2%, 76.0%, 76.0%], glottic-transglottic pT3 [85.3%, 91.1%, 86.4%, 88.7%], and pT4a [73.2%, 88.1%, 52.7%, 60.7%], respectively. DFS and LRC prevalences at 5 years were greatly affected by pT4a staging. Five-year laryngeal function preservation (LFP) and laryngectomy free survival (LFS) were: glottic pT2 [90.9%, 95.2%], glottic-transglottic pT3 [84.4%, 93.1%], and pT4a [63.7%, 75.5%], respectively, being affected by pT staging and age 65 ≥ years (LFP 54.1%). As a result of Type III open horizontal partial laryngectomies (OPHLs) (supratracheal laryngectomies), the typical subsites of local failure inside the larynx were the mucosa at the passage between the remnant larynx and trachea, the mucosa at the level of the posterior commissure and the contralateral cricoarytenoid unit as well as outside the larynx at the level of the outer surface of the remnant larynx. For patients with glottic or transglottic tumours and with sub-glottic extension, the choice of STPL can be considered to be effective, not only in prognostic terms, but also in terms of functional results.

Value of endorectal MRI and MRS in patients with elevated prostate-specific antigen levels and previous negative biopsies to localize peripheral zone tumours.

AIM: To evaluate prospectively the role of endorectal magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) in detecting peripheral zone tumour in patients with total prostate-specific antigen (PSA) values>or=4 ng/ml and one or more negative transrectal ultrasound (TRUS) biopsy rounds. MATERIAL AND METHODS: Fifty-four consecutive men (mean age 65.4+/-5.2 years, mean total PSA 10.8+/-7.5 ng/ml), underwent a combined MRI-MRS examination with endorectal coil. MRI included transverse, coronal, and sagittal T2-weighted and transverse T1-weighted fast spin-echo sequences. MRS data were acquired using a double spin-echo point resolved spectroscopy (PRESS) sequence. A 10-site scheme was adopted to evaluate the prostate peripheral zone. A peripheral prostatic site was classified as suspicious if low intensity signal was present on T2-weighted images and/or if the choline+creatine/citrate ratio was >0.86. Following MRI-MRS all patients were submitted to a standard 10-core biopsy scheme to which from one to three supplementary samples were added from suspicious MRI and/or MRS sites. In per-patient analysis findings were considered true-positive if biopsy positive patients were classified as suspicious, irrespectively of lesion site indication. RESULTS: Prostate cancer (PC) was detected in 17 of 54 patients (31.5%); median Gleason score was 6 (range 4-8). On a per-patient basis sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were respectively 100, 64.9, 56.7, 100, and 75.9% for MRI; 82.2, 70.3, 57.7, 92.9, and 75.9% for MRS; and 100, 51.4, 48.6, 100, and 66.7% for combined MRI-MRS. In all the 17 PC patients, combined MRI-MRS correctly indicated the sites harbouring cancer, whereas both MRI and MRS gave erroneous indications in two patients. CONCLUSION: The results of the present study show that MRI alone might be able to select negative patients in whom further biopsies are unnecessary. The combination of MRI and MRS might be able to drive biopsies in suspicious sites and increase the cancer detection rate. Further studies are required to confirm these data.

Femoral haemostosis with Vasoseal ES: experience in 150 patients.

PURPOSE: The aim of this study is to assess the effectiveness and safety of the use of Vasoseal ES collagen plug in heavily anticoagulated patients with high risk of complications at the vascular access site who had undergone vascular radiological intervention. MATERIALS AND METHODS: Between January 2002 and March 2003 180 consecutive transfemoral arterial accesses in 169 patients subjected to vascular radiological procedures were performed (bilateral access was performed in 11 patients): 140 percutaneous transluminal angioplasties and 40 transarterial chemoembolisations. All the patients who underwent angioplasty were given 3,000 IU of sodic heparin intravenously during the procedure and later a prolonged antiaggregant therapy was undertaken (ticlopidine 500 mg/day and aspirin 150 mg/day). The sheaths were removed at the end of the surgical manoeuvre and two cartridges of collagen were positioned on the external surface of the artery. The mean values of platelets and partial thromboplastin time were 42,000/ml and 170 s, respectively, in cirrhotic patients against 250,000/ml and 200 s in patients with peripheral arteriopathy. The next day a colour Doppler examination was performed at the puncture site. RESULTS: The technique proved successful in 89.4% of cases (161/180). In 19/180 vascular accesses placement of the haemostatic cartridges was not possible owing to the inability to compress the common femoral artery proximal to the release site (4/19), owing to a pre-existing haematoma (5/19) and owing to the limited presence of subcutaneous tissue (10/19). The mean time required for the placement of Vasoseal ES was 4 min. The mean time-to-haemostasis was 6 min. The mean time-to-mobilisation was 4 hr. Only in two patients was there an onset of a pseudoaneurysm of the right common femoral artery; the lesions were treated with ultrasonography -guided compression. In addition, 16 small local haematomas were recorded. In 4 cases early re-puncture of the femoral artery was performed (24-48 hr following the use of the device) without consequences. CONCLUSIONS: Vasoseal ES is a safe collagen closure device characterised by a high success rate. In anticoagulated patients the device can reduce the time-to-mobilisation and the incidence of complications.