Testicular cancer is the most common form of cancer in young men of reproductive age and its incidence is increasing globally. With the currently successful treatment and 95% survival rate, there is a need for deeper understanding of testicular cancer-related infertility. Most patients with testicular cancer experience semen abnormalities prior to cancer therapy. However, the exact mechanism of the effect of testicular cancer on sperm anomalies is not known. Mitochondria are organelles that play a crucial role in both tumorigenesis and spermatogenesis and their malfunction may be an important factor resulting in sperm abnormalities in testicular cancer patients. Within the scope of this review, we will discuss current knowledge of testicular cancer-related alterations in the ATP production pathway, a possible pathophysiological switch from oxidative phosphorylation (OXPHOS) to glycolysis, as well as the role of oxidative stress promoting sperm dysfunction. In this regard, the review provides a summary of the impact of testicular cancer on sperm quality as a possible consequence of impaired mitochondrial function including the energy metabolic pathways that are known to be altered in the sperm of testicular cancer patients.
- MeSH
- nemoci endokrinního systému * diagnóza farmakoterapie klasifikace MeSH
- nemoci hypofýzy diagnóza farmakoterapie klasifikace MeSH
- nemoci hypotalamu diagnóza farmakoterapie klasifikace MeSH
- nemoci nadledvin diagnóza farmakoterapie klasifikace MeSH
- nemoci ovaria diagnóza farmakoterapie klasifikace komplikace MeSH
- nemoci paratyreoidey diagnóza farmakoterapie klasifikace MeSH
- nemoci štítné žlázy diagnóza farmakoterapie klasifikace MeSH
- nemoci varlat diagnóza farmakoterapie klasifikace komplikace MeSH
- Publikační typ
- přehledy MeSH
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
Autoři předkládají kazuistiku netradičního výskytu metastázy mucinózního adenokarcinomu tlustého střeva u pacienta ve varleti.
The authors present a case report of an unusual occurence of mucinous adenocarcinoma metastasis of the colon in the testis of a patient.
- MeSH
- kolorektální nádory diagnóza klasifikace komplikace patologie MeSH
- lidé MeSH
- metastázy nádorů diagnóza patologie MeSH
- mucinózní adenokarcinom diagnóza patologie MeSH
- orchiektomie metody MeSH
- senioři MeSH
- testikulární nádory * diagnóza sekundární MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
A syndromic association between a subset of testicular/paratesticular neoplasms is well established. Such examples include Carney complex and large cell calcifying Sertoli cell tumor, Peutz-Jeghers syndrome and intratubular large cell hyalinizing Sertoli cell neoplasia, and VHL syndrome and clear cell papillary cystadenoma of the epididymis.However, recent studies proposed potential novel links between some testicular and paratesticular neoplasms with certain tumor syndromes. While more studies are still needed to solidify these associations, recent research suggests that a subset of Leydig cell tumors may arise in patients with hereditary leiomyomatosis and renal cell carcinoma syndrome or that some seminomas may occur in Lynch syndrome patients. Additionally, an association between testicular sex cord stromal tumors and paratesticular sarcomas with Familial adenomatous polyposis syndrome and DICER1 syndrome, respectively, has been proposed as well. This review provides a comprehensive overview of the intricate relationship between familial syndromes and associated testicular and paratesticular tumors, shedding light on their clinicopathological and molecular characteristics.
- MeSH
- dědičné nádorové syndromy * patologie genetika MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- nádory mužských pohlavních orgánů patologie genetika MeSH
- testikulární nádory * genetika patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
To evaluate the oncological outcomes and safety of primary retroperitoneal lymph node dissection (RPLND) in patients with clinical stage (CS) II seminomatous testicular germ cell tumor (TGCT). A literature search using PubMed, Scopus, and Cochrane Library was conducted on July 2023 to identify relevant studies according to the Preferred Reporting Items for Systematic Review and Meta Analysis (PRISMA) guidelines. The pooled recurrence rate and treatment-related complications were calculated using a random effects model. Overall 8 studies published between 1997 and 2023 including a total of 355 patients were selected for systematic review and meta-analysis with the overall median follow-up of 38 months. The overall and infield recurrence rate were 0.14 (95% CI: 0.08-0.22) and 0.04 (95% CI: 0.00-0.11), respectively. The overall pooled rate of ≥ Clavien Dindo grade III complications was 0.04 (95% CI: 0.01-0.10); there was no significant heterogeneity (I^2 = 35.10%, P = 0.19). Antegrade ejaculation was preserved with the overall pooled rate of 0.98 (95% CI: 0.95-1.00); there was no significant heterogeneity on Chi-square and I2 tests (I^2 = 0.00%, P = 0.58). Primary RPLND is a safe and effective treatment option for patients with CS II seminomatous TGCT resulting highly promising cure rates combined with low treatment-associated adverse events, at medium-term follow-up. However, owing to the lack of comparative studies to the current standard of care and the limited follow-up, individual decision must be made with the informed patient in a shared decision process together with a multidisciplinary team.
- MeSH
- germinální a embryonální nádory * chirurgie patologie MeSH
- lidé MeSH
- lymfadenektomie škodlivé účinky metody MeSH
- retroperitoneální prostor patologie MeSH
- retrospektivní studie MeSH
- seminom * patologie MeSH
- staging nádorů MeSH
- testikulární nádory * patologie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- metaanalýza MeSH
- přehledy MeSH
- systematický přehled MeSH
Předkládáme kazuistiku úspěšné chirurgické léčby rozsáhlé a rizikově uložené retroperitoneální lymfadenopatie nádoru varlete po chemoterapii. Multidisciplinární spolupráce u urologických malignit vede k nalezení co nejoptimálnější léčebné metody zejména u komplikovaných stadií nádorů nebo v léčbě recidiv. Léčba perzistujících retroperitoneálních metastáz u testikulárních nádorů po chemoterapii patří k nejkomplikovanějším. Prezentujeme kazuistiku odstranění rozsáhlé metastázy teratokarcinomu u mladého pacienta s nonseminomem, která perzistovala po několika cyklech chemoterapie. Metastáza byla velmi nešťastně uložena interaortokaválně, a to ještě dorzálně za velkými cévami, především za dolní dutou žilou.
We present case reports of successful surgical treatment of extensive and high-risk testicular tumor metastasis after chemotherapy. Multidisciplinary colaboration in urological malignancies leads to finding the most optimal treatment method, especially in complicated tumor stages or in the treatment of recurrences. The treatment of persistent retroperitoneal metastases in testicular tumors after chemotherapy is an illustrative example of this. We present a case report of removal of a large metastases of teratocarcinoma in a patient treated with nonseminoma after chemotherapy. The metastasis was unfortunately placed interaortocavally, and even dorsally behind the large vessels, especially behind the inferior vena cava.
- MeSH
- dospělí MeSH
- lidé MeSH
- metastázy nádorů MeSH
- retroperitoneální prostor * chirurgie patologie MeSH
- teratokarcinom chirurgie sekundární MeSH
- testikulární nádory * komplikace terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Sarcoidosis is a disease characterised primarily by lung tissue involvement. Extrapulmonary involvement, particularly in the genitourinary tract, is extremely rare, particularly when it comes to primary disease detection in this location. The gold standard in establishing a definitive diagnosis of sarcoidosis is a combination of the clinical picture, the results of imaging methods, and histopathological examination from the biopsy taken (thus ruling out other causes of granulomatous inflammation). However, it is common for the biopsy to be infeasible or for the patient to refuse such an examination, resulting in the neglect of this critical verification. We introduce the case of a young 29-year-old man of Czech nationality who had been complaining for some time about non-specific pain above the pubic bone and in the lower abdomen, which was combined with a painless enlargement of the right half of the scrotum. Due to suspected malignancy, it was, after considering clinical, imaging, and laboratory findings, decided to perform a radical orchiectomy as a treatment option. The histological examination revealed that it was not cancer, but rather a rare genitourinary form of extrapulmonary sarcoidosis. In this case, radical resection had been, therefore, unnecessary. We also present a review of the literature on published extrapulmonary, genitourinary, and testicular sarcoidosis cases. All the above demonstrates the importance of considering a possible atypical sarcoidosis manifestation and histological confirmation before pursuing radical solutions.
Myoid gonadal stromal tumours (MGST) represent a rare type of testicular sex cord-stromal tumour that has recently been recognised as a distinct entity by the World Health Organization (WHO) classification of genitourinary tumours. MGSTs affect adult men and have been reported to behave in an indolent fashion. Histologically, MGSTs are pure spindle cell neoplasms that coexpress SMA and S100 protein. Given that the molecular features of these neoplasms remain largely undescribed, we evaluated a multi-institutional series of MGSTs using DNA and RNA sequencing. This study included 12 tumours from 12 patients aged 28 to 57 years. Tumour sizes ranged from 0.6 to 4.3 cm. Aggressive histologic features, such as vascular invasion, necrosis, invasive growth, and atypical mitoses were invariably absent. Mitotic activity was low, with a median of less than 1 mitosis per 10 high power fields (HPF; maximum: 3 mitoses per 10 HPF). Molecular analyses did not identify recurrent mutations or gene fusions. All cases with interpretable copy number variant data (9/10 cases sequenced successfully) demonstrated a consistent pattern of chromosome arm-level and whole-chromosome-level copy number gains indicative of ploidy shifts, with recurrent gains involving chromosomes 3, 6, 7, 8, 9, 11, 12, 14q, 15q, 17, 18q, 20, and 21q. Similar findings have also been recognised in pure spindle cell and spindle-cell predominant sex cord-stromal tumours without S100 protein expression. MGSTs are characterised by ploidy shifts and may be part of a larger spectrum of spindle cell-predominant sex cord-stromal tumours, including cases without S100 protein expression.
- MeSH
- chromozomy metabolismus MeSH
- dospělí MeSH
- gonadální stromální nádory * genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- proteiny S100 MeSH
- testikulární nádory * patologie MeSH
- variabilita počtu kopií segmentů DNA MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- MeSH
- dítě MeSH
- lidé MeSH
- nádory ledvin MeSH
- nádory močového měchýře MeSH
- retroperitoneální nádory MeSH
- rhabdomyosarkom MeSH
- testikulární nádory MeSH
- urogenitální nádory * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
