Spermatocytic tumor (ST) is a rare type of germ cell tumor that occurs exclusively in the postpubertal testis and typically affects elderly men. Most STs are benign, but rare cases exhibit aggressive clinical behavior, often in association with transition to sarcomatoid histology. Limited molecular analyses have been performed on STs; therefore, their genomic and epigenomic features remain incompletely described. Twenty-seven samples from 25 individual patients were analyzed with a combination of DNA sequencing panels, genomic methylation profiling, SNP array, isochromosome (12p) [i(12p)] FISH, and immunohistochemistry. The series included five metastasizing tumors (three with sarcomatoid transformation, one anaplastic, and one conventional) and 20 non-metastasizing tumors (14 anaplastic and six conventional). Anaplastic tumors comprised a monomorphic population of intermediate-sized neoplastic cells, as previously described. Multiomic analyses demonstrated that there were two genomic subgroups of STs: one with diploid genomes and hotspot RAS/RAF variants and the other with global ploidy shift and absence of recurrent mutations. Relative gain of chromosome 9 was a consistent finding in both subgroups. A comparison of metastasizing and non-metastasizing cases demonstrated that aggressive behavior was associated with the acquisition of pathogenic TP53 mutations and/or relative gains of 12p/i(12p). In cases with sarcomatoid transformation, TP53 mutations seem to underlie the transition to sarcomatoid histology. Genomic methylation analysis demonstrated that aggressive cases with gains of 12p cluster closer to pure seminomas than to STs without gains of 12p. In conclusion, STs include two genomic subgroups, characterized by global ploidy shifts without recurrent mutations and diploid genomes with RAS/RAF hotspot mutations, respectively. Biologic progression was associated with relative gains of 12p and TP53 mutations. The findings in STs with relative gains of 12p suggest that they may exhibit biologic characteristics akin to those seen in germ cell neoplasia in situ-related germ cell tumors rather than non-germ cell neoplasia in situ-derived STs. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
- MeSH
- biologické přípravky * MeSH
- genomika MeSH
- germinální a embryonální nádory * genetika MeSH
- lidé MeSH
- lidské chromozomy, pár 12 metabolismus MeSH
- seminom * genetika MeSH
- senioři MeSH
- testikulární nádory * metabolismus MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
OBJECTIVES: The aim of the present study was to propose a methodologically innovative sonographic approach for optimal evaluation of synovial tissues (starting from histopathology). METHODS: Using high-frequency ultrasound probes and high-level ultrasound machines, we matched the histological microarchitecture of synovial tissues with multiple sonographic patterns in physiological and pathological conditions. Likewise, high-sensitive color/power Doppler assessments have also been performed to evaluate the microcirculation. RESULTS: Modern equipment allows for a macroscopic classification of synovial pathologies recognizing different morphological patterns; however, intimal and subintimal layers of the synovium cannot be distinguished from each other on ultrasound. High-sensitive Doppler imaging clearly defines the microvascular pattern, especially in patients with hypertrophic synovial pathologies. CONCLUSIONS: In clinical practice, using adequate technological equipment i.e. high-frequency B-mode and high-sensitive Doppler imaging, detailed sonographic assessment of synovial tissues can be performed - defining the main sono-histological patterns.
Axilla is a pyramidal-in-shape "virtual cavity" housing multiple anatomical structures and connecting the upper limb with the trunk. To the best of our knowledge, in the pertinent literature, a detailed sonographic protocol to comprehensively assess the axillary region in daily practice is lacking. In this sense, the authors have briefly described the anatomical architecture of the axilla-also using cadaveric specimens-to propose a layer-by-layer sonographic approach to this challenging district. The most common sonographic pathological findings-for each and every anatomical compartment of the axilla-have been accurately reported and compared with the corresponding histopathological features. This ultrasound approach could be considered a ready-to-use educational guidance for the assessment of the axillary region. CRITICAL RELEVANCE STATEMENT: Axilla is a pyramidal-in-shape "virtual cavity" housing multiple anatomical structures and connecting the upper limb with the trunk. The aim of this review article was to describe the anatomical architecture of the axilla, also using cadaveric specimens, in order to propose a layer-by-layer sonographic approach to this challenging district.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- MeSH
- bolest MeSH
- lidé MeSH
- míšní nervy MeSH
- povrchové zádové svaly * MeSH
- syndromy myofasciální bolesti * MeSH
- ultrasonografie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: In clinical practice, ultrasound assessment of the skin and superficial tissues is progressively becoming a valuable diagnostic tool to support physical examination in the outpatient setting. OBJECTIVES: The aim of this study was to define a standardized sonographic approach to (layer-by-layer) accurately evaluate multiple histological layers of the skin and superficial tissues. METHODS: Using high-frequency ultrasound probes and high-level ultrasound machines, we matched the histological microarchitecture of superficial tissues with multiple sonographic patterns in physiological and pathological conditions. Moreover, high-sensitive color/power Doppler assessments have also been performed to evaluate the microcirculation. RESULTS: Modern equipment allow for a detailed "sonographic dissection" of the skin and superficial tissues by evaluating different histological layers in various clinical scenarios. High-sensitive Doppler imaging clearly depicts the microvasculature, especially of pathologies. CONCLUSIONS: In clinical practice, using adequate technological equipment, a detailed sonographic assessment of the superficial (soft) tissues can be performed with the use of high-frequency B-mode and high-sensitive Doppler imaging.
- MeSH
- histologické techniky * MeSH
- kůže * diagnostické zobrazování MeSH
- lidé MeSH
- svaly MeSH
- ultrasonografie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
