The Driver Mutational Landscape of Ovarian Squamous Cell Carcinomas Arising in Mature Cystic Teratoma

Purpose: We sought to identify the genomic abnormalities in squamous cell carcinomas (SCC) arising in ovarian mature cystic teratoma (MCT), a rare gynecological malignancy of poor prognosis.

Experimental design: We performed copy number, mutational state, and zygosity analysis of 151 genes in SCC arising in MCT (n = 25) using next-generation sequencing. The presence of high-/intermediate-risk HPV genotypes was assessed by quantitative PCR. Genomic events were correlated with clinical features and outcome.

Results: MCT had a low mutation burden with a mean of only one mutation per case. Zygosity analyses of MCT indicated four separate patterns, suggesting that MCT can arise from errors at various stages of oogenesis. A total of 244 abnormalities were identified in 79 genes in MCT-associated SCC, and the overall mutational burden was high (mean 10.2 mutations per megabase). No SCC was positive for HPV. The most frequently altered genes in SCC were TP53 (20/25 cases, 80%), PIK3CA (13/25 cases, 52%), and CDKN2A (11/25 cases, 44%). Mutation in TP53 was associated with improved overall survival. In 8 of 20 cases with TP53 mutations, two or more variants were identified, which were bi-allelic.

Conclusions: Ovarian SCC arising in MCT has a high mutational burden, with TP53 mutation the most common abnormality. The presence of TP53 mutation is a good prognostic factor. SCC arising in MCT share similar mutation profiles to other SCC. Given their rarity, they should be included in basket studies that recruit patients with SCC of other organs. Clin Cancer Res; 23(24); 7633–40. ©2017 AACR.

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Peculiar radiopaque foreign body in the upper aerodigestive tract in a newborn corpse from the Indian Ocean

Publication date: Available online 14 December 2017
Source:Journal of Forensic Radiology and Imaging
Author(s): Stéphane Chapenoire, Saverio Braccini, Karl Krämer, Laurent Hauret, Fabienne Jordana, Charles Agostini, Yves Schuliar
The authors present a single case report illustrating on the body of a newborn found on the seashore of the island of Mayotte in the Indian Ocean, the diagnostic difficulties inherent in the detection during the post-mortem scan of a voluminous highly radiopaque foreign body in the upper aerodigestive tract. The internal examination has highlighted black sand in abundance in the upper aerodigestive tract. The CT scanning of a sand sample from the lagoon shore confirmed its high-density radiopaque nature. In a specialized laboratory, the magnetic part of this sample was investigated by means of energy dispersive X-ray spectroscopy (EDS), powder X-ray diffraction (XRD), and Mössbauer spectroscopy. The mineral composition is dominantly magnetite (Fe3O4) but contrary to pure magnetite, a relevant fraction of titanium was detected.This case demonstrates how post-mortem CT may lead to inappropriate diagnosis and highlights the interest of the physicochemical study in the forensic context.



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Beware of Multiphase CTA Interpretation [LETTERS]

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Reply: [LETTERS]

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Optimal Fat Suppression in Head and Neck MRI: Comparison of Multipoint Dixon with 2 Different Fat-Suppression Techniques, Spectral Presaturation and Inversion Recovery, and STIR [HEAD & NECK]

BACKGROUND AND PURPOSE:

Uniform complete fat suppression is essential for identification and characterization of most head and pathology. Our aim was to compare the multipoint Dixon turbo spin-echo fat-suppression technique with 2 different fat-suppression techniques, including a hybrid spectral presaturation with inversion recovery technique and an inversion recovery STIR technique, in head and neck fat-suppression MR imaging.

MATERIALS AND METHODS:

Head and neck MR imaging datasets of 72 consecutive patients were retrospectively reviewed. All patients were divided into 2 groups based on the type of fat-suppression techniques used (group A: STIR and spectral presaturation with inversion recovery gadolinium-T1WI; group B: multipoint Dixon T2 TSE and multipoint Dixon gadolinium-T1WI TSE). Objective and subjective image quality and scan acquisition times were assessed and compared between multipoint Dixon T2 TSE versus STIR and multipoint Dixon gadolinium-T1WI TSE versus spectral presaturation with inversion recovery gadolinium-T1WI using the Mann-Whitney U test.

RESULTS:

A total of 64 patients were enrolled in the study (group A, n = 33 and group B, n = 31). Signal intensity ratios were significantly higher for multipoint Dixon T2 and gadolinium-T1WI techniques compared with STIR (P < .001) and spectral presaturation with inversion recovery gadolinium-T1WI (P < .001), respectively. Two independent blinded readers revealed that multipoint Dixon T2 and gadolinium-T1WI techniques had significantly higher overall image quality (P = .022 and P < .001) and fat-suppression grades (P < .013 and P < .001 across 3 different regions) than STIR and spectral presaturation with inversion recovery gadolinium-T1WI, respectively. The scan acquisition time was relatively short for the multipoint Dixon technique (2 minutes versus 4 minutes 56 seconds for the T2-weighted sequence and 2 minutes versus 3 minutes for the gadolinium-T1WI sequence).

CONCLUSIONS:

The multipoint Dixon technique offers better image quality and uniform fat suppression at a shorter scan time compared with STIR and spectral presaturation with inversion recovery gadolinium-T1WI techniques.

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Feasibility of Permanent Stenting with Solitaire FR as a Rescue Treatment for the Reperfusion of Acute Intracranial Artery Occlusion [INTERVENTIONAL]

BACKGROUND AND PURPOSE:

The Solitaire FR can be used not only as a tool for mechanical thrombectomy but also as a detachable permanent stent. Our aim was to assess the feasibility and safety of permanent stent placement with the Solitaire FR compared with other self-expanding stents for intracranial artery recanalization for acute ischemic stroke.

MATERIALS AND METHODS:

From January 2011 through January 2016, we retrospectively selected 2979 patients with acute ischemic stroke. Among them, 27 patients who underwent permanent stent placement (13 patients with the Solitaire FR [Solitaire group] and 14 patients with other self-expanding stents [other stent group]) were enrolled. The postprocedural modified TICI grade and angiographic and clinical outcomes were assessed. The safety and efficacy of permanent stent placement of the Solitaire FR for acute large-artery occlusion were evaluated.

RESULTS:

Stent placement was successful in all cases. Modified TICI 2b–3 reperfusion was noted in 84.6% of the Solitaire group and in 78.6% of the other stent group. Procedural time was significantly shorter in the Solitaire group than in the other stent group (P = .022). Shorter procedural time was correlated with favorable outcome ( = 0.46, P = .035). No significant differences were found in the modified TICI grade, NIHSS score, mRS, and hemorrhagic transformation rate between the 2 groups. The acute in-stent thrombosis rate at discharge was significantly lower when a glycoprotein IIb/IIIa inhibitor was injected during the procedure (P = .013).

CONCLUSIONS:

Permanent stent placement with the Solitaire FR compared with other self-expanding stents appears to be feasible and safe as a rescue tool for refractory intra-arterial therapy.

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Improved Precision of Automatic Brain Volume Measurements in Patients with Clinically Isolated Syndrome and Multiple Sclerosis Using Edema Correction [ADULT BRAIN]

BACKGROUND AND PURPOSE:

The presence of edema will result in increased brain volume, which may obscure progressing brain atrophy. Similarly, treatment-induced edema reduction may appear as accelerated brain tissue loss (pseudoatrophy). The purpose of this study was to correlate brain tissue properties to brain volume, to investigate the possibilities for edema correction and the resulting improvement of the precision of automated brain volume measurements.

MATERIALS AND METHODS:

A group of 38 patients with clinically isolated syndrome or newly diagnosed MS were imaged at inclusion and after 1, 2, and 4 years using an MR quantification sequence. Brain volume, relaxation rates (R₁ and R₂), and proton density were measured by automated software.

RESULTS:

The reduction of normalized brain volume with time after inclusion was 0.273%/year. The mean SDs were 0.508%, 0.526%, 0.454%, and 0.687% at baseline and 1, 2, and 4 years. Linear regression of the relative change of normalized brain volume and the relative change of R₁, R₂, and proton density showed slopes of –0.198 (P < .001), 0.156 (P = .04), and 0.488 (P < .001), respectively. After we applied the measured proton density as a correction factor, the mean SDs decreased to 24.2%, 4.8%, 33.3%, and 17.4%, respectively. The observed atrophy rate reduced from 0.273%/year to 0.238%/year.

CONCLUSIONS:

Correlations between volume and R₁, R₂, and proton density were observed in the brain, suggesting that a change of brain tissue properties can affect brain volume. Correction using these parameters decreased the variation of brain volume measurements and may have reduced the effect of pseudoatrophy.

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