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Animals : An Open Access Journal From... Apr 2022An 18-year-old Salernitano stallion developed a progressive enlargement of the left testicle over eight months. An ultrasound evaluation was performed, along with a...
An 18-year-old Salernitano stallion developed a progressive enlargement of the left testicle over eight months. An ultrasound evaluation was performed, along with a hormonal profile. A histopathological evaluation of the testis was performed after unilateral orchiectomy. On B-mode ultrasound examination, testicular parenchyma was characterized by the loss of internal structure, with the presence of multiple coalescing, nodular, well-defined and heterogeneous lesions with capsule deformity, appearing with an irregular profile. On dissection, the testicular parenchyma bulged over the cut section, confirming the increase in size. Microscopically, the lesion consisted mainly of large, densely packed, polygonal-to-round-shaped neoplastic cells. Mitotic figures were plentiful and frequently atypical; further microscopic features included apoptosis and necrosis. At immunohistochemistry, the entire neoplasm showed strong and diffuse immunolabeling for vimentin, while CD117-specific immunoreactivity was only observed in scattered clusters of neoplastic cells. Based on the gross, microscopic and IHC findings, a diagnosis of diffuse seminoma was made. Three months later, a follow-up examination showed no evidence of recurrence and the preservation of reproductive abilities. The case presented shows an unusual ultrasonographic pattern for seminoma and the basis of the correlation between the characteristics of the sonoelastographic examination and histological diagnosis.
PubMed: 35405924
DOI: 10.3390/ani12070936 -
Mediastinum (Hong Kong, China) 2022In this review, we summarize the current state of the art of primary mediastinal germ cell tumours (PMGCTs) and we highlight challenges and future research directions... (Review)
Review
OBJECTIVE
In this review, we summarize the current state of the art of primary mediastinal germ cell tumours (PMGCTs) and we highlight challenges and future research directions for this disease.
BACKGROUND
PMGCTs account for 1-3% of all germ cell malignancies and for 15% of adult anterior mediastinal cancers. In 60-70% of cases PMGCTs are represented by nonseminomatous germ cell tumours (GCTs), and in 30-40% of cases by seminomas. Even if PMGCTs share histological and biochemical characteristics with gonadal GCTs, they have peculiar clinical and biological features. Nonseminomatous PMGCTs have a poor prognosis, with a 5-year overall survival (OS) rate of 40-50% after platinum-based chemotherapy and surgery, and a long-term OS of only 10% after salvage treatment. Due to the rarity of this disease, no level 1 evidence is available from randomised trials for PMGCTs. The combination of bleomycin, etoposide, and cisplatin (BEP) or etoposide, ifosfamide and cisplatin (VIP) for 4 cycles are recommended as first line treatment options for nonseminomatous PMGCTs. Surgery of the residual disease after chemotherapy is fundamental in the treatment of nonseminomatous PMGCTs. PMGCTs have high TP53 pathway gene alterations, while targetable gene alterations are rarely identified, thus challenging the advance of precision medicine in this field.
METHODS
We performed a narrative review of international literature published in English on PMGCTs, focusing the attention on clinical trials, international guidelines and translational studies.
CONCLUSIONS
Treatment of patients with PMGCTs is challenging and should be performed in experienced centers. International collaborations should become a priority to ensure optimal patient management. Clinical investigation of new therapeutic options remains an important unmet clinical need, and inclusion of patients in clinical trials should be encouraged. Liquid biopsy is a new promising strategy in PMGCTs.
PubMed: 35340835
DOI: 10.21037/med-21-33 -
Cancers Oct 2022(1) Background: PTTG1 sustains the EMT process and the invasiveness of several neoplasms. We previously showed the role of nuclear PTTG1 in promoting invasiveness,...
(1) Background: PTTG1 sustains the EMT process and the invasiveness of several neoplasms. We previously showed the role of nuclear PTTG1 in promoting invasiveness, through its transcriptional target MMP2, in seminoma in vitro models. Here, we investigated the key players involved in PTTG1-mediated EMT in human seminoma. (2) Methods: Two seminoma cell lines and four human seminoma tumor specimens were used. E-Cadherin gene regulation was investigated using Western blot, real-time PCR, and luciferase assay. Immunoprecipitation, ChIP, RE-ChIP, and confocal microscopy analysis were performed to evaluate the interplay between PTTG1 and ZEB1. Matrigel invasion and spheroid formation assays were applied to functionally investigate PTTG1 involvement in the EMT of seminoma cell lines. RNA depletion and overexpression experiments were performed to verify the role of PTTG1/ZEB1 in E-Cadherin repression and seminoma invasiveness. E-Cadherin and ZEB1 levels were analyzed in human testicular tumors from the Atlas database. (3) Results: PTTG1 transcriptionally represses E-Cadherin in seminoma cell lines through ZEB1. The cooperation of PTTG1 with ZEB1 has a significant impact on cell growth/invasion properties involving the EMT process. Analysis of the Atlas database of testicular tumors showed significantly lower E-Cadherin levels in seminoma, where PTTG1 showed nuclear staining. Finally, PTTG1 and ZEB1 strongly localize together in the periphery of the tumors. (4) Conclusions: These results strengthen the evidence for a role of PTTG1 in the EMT process in human seminomas through its cooperation with the transcriptional repressor ZEB1 on the E-Cadherin gene. Our data enrich the molecular characterization of seminoma, suggesting that PTTG1 is a prognostic factor in seminoma clinical management.
PubMed: 36230799
DOI: 10.3390/cancers14194876 -
Frontiers in Immunology 2022Testicular germ cell tumor (TGCT) is the most common tumor in young men, but molecular signatures, especially the alternative splicing (AS) between its subtypes have not...
BACKGROUND
Testicular germ cell tumor (TGCT) is the most common tumor in young men, but molecular signatures, especially the alternative splicing (AS) between its subtypes have not yet been explored.
METHODS
To investigate the differences between TGCT subtypes, we comprehensively analyzed the data of gene expression, alternative splicing (AS), and somatic mutation in TGCT patients from the TCGA database. The gene ontology (GO) enrichment analyses were used to explore the function of differentially expressed genes and spliced genes respectively, and Spearman correlation analysis was performed to explore the correlation between differential genes and AS events. In addition, the possible patterns in which AS regulates gene expression were elaborated by the ensemble database transcript atlas. And, we identified important transcription factors that regulate gene expression and AS and functionally validated them in TGCT cell lines.
RESULTS
We found significant differences between expression and AS in embryonal carcinoma and seminoma, while mixed cell tumors were in between. GO enrichment analyses revealed that both differentially expressed and spliced genes were enriched in transcriptional regulatory pathways, and obvious correlation between expression and AS events was determined. By analyzing the transcript map and the sites where splicing occurs, we have demonstrated that AS regulates gene expression in a variety of ways. We further identified two pivot AS-related molecules (SOX2 and HDAC9) involved in AS regulation, which were validated in embryonal carcinoma and seminoma cell lines. Differences in somatic mutations between subtypes are also of concern, with our results suggesting that mutations in some genes (B3GNT8, CAPN7, FAT4, GRK1, TACC2, and TRAM1L1) occur only in embryonal carcinoma, while mutations in KIT, KARS, and NRAS are observed only in seminoma.
CONCLUSIONS
In conclusion, our analysis revealed the differences in gene expression, AS and somatic mutation among TGCT subtypes, providing a molecular basis for clinical diagnosis and precise therapy of TGCT patients.
Topics: Male; Humans; Carcinoma, Embryonal; Alternative Splicing; Seminoma; DNA, Recombinant; Testicular Neoplasms; Mutation; Gene Expression
PubMed: 36713456
DOI: 10.3389/fimmu.2022.1096494 -
Cureus Dec 2020Ovotesticular disorder or true hermaphroditism is defined as the presence of both ovarian and testicular tissues in the same individual irrespective of the patient's...
Ovotesticular disorder or true hermaphroditism is defined as the presence of both ovarian and testicular tissues in the same individual irrespective of the patient's karyotype. Ovotesticular disorder represents 5% of disorders of sex development. Cases of true hermaphroditism must be treated like men or women based on their age, external genitalia and the orientation of the patient. Here we report a case of true hermaphroditism which was diagnosed with seminoma on histopathological examination. The patient underwent orchiectomy, followed by two cycles of chemotherapy.
PubMed: 33489542
DOI: 10.7759/cureus.12130 -
Turkish Thoracic Journal Nov 2020The basic treatment for bleomycin-induced pulmonary toxicity is corticosteroids. However, unresponsiveness to corticosteroid treatment can be observed in some cases. We...
The basic treatment for bleomycin-induced pulmonary toxicity is corticosteroids. However, unresponsiveness to corticosteroid treatment can be observed in some cases. We present a case of a 51-year-old man, diagnosed with seminoma, who was receiving a combination treatment of bleomycin, etoposide, and cisplatin when admitted to the hospital with progressive cough and exercise-induced dyspnea. The patient's computed thorax tomography imaging showed bilateral consolidation of lungs, bronchoalveolar lavage (BAL) showed neutrophilia, and transbronchial biopsy showed fibroblastic proliferation. The sputum and BAL cultures were all sterile, and the patient was treated with methylprednisolone for the diagnosis of acute interstitial pneumonia. However, despite the corticosteroid treatment, patient suffered a respiratory failure. On the sixteenth day, imatinib 300 mg/day was added to the corticosteroid treatment. The result of the combination therapy was successful; therefore, corticosteroid and imatinib were stopped at the fifth and ninth month of the combination treatment, respectively. The patient, who is still under follow-up without any therapy until now, demonstrated that in cases of bleomycin-induced pulmonary toxicity that is unresponsive to corticosteroids, addition of imatinib to the treatment can be an alternative option.
PubMed: 33352104
DOI: 10.5152/TurkThoracJ.2020.19082 -
Translational Andrology and Urology Oct 2020Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and... (Review)
Review
Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and tumors in patients with DSD, more robust, large scale, prospective literature is required to truly determine the extent of this association, long-term outcomes and the nuances associated with the wide variety of DSD diagnoses. In addition, the spectrum of diagnoses and nomenclature has been ever-changing, limiting assessment of long-term patient outcomes. This review aims to provide an overview of the pathogenesis of DSD conditions, potential malignancies associated with the diagnoses, the available screening for malignancy, and the most recent data on stratification for each DSD diagnosis and association with malignancy.
PubMed: 33209714
DOI: 10.21037/tau-19-726 -
World Journal of Clinical Cases Dec 2021Spermatocytic tumor is a rare, malignant neoplasm of the testes. Since the prognosis for this tumor type is favorable, accurate diagnosis and differentiation from other...
BACKGROUND
Spermatocytic tumor is a rare, malignant neoplasm of the testes. Since the prognosis for this tumor type is favorable, accurate diagnosis and differentiation from other malignant testicular neoplasms (classic seminoma and lymphoma) are crucial. To add to the existing literature on the diagnosis of spermatocytic tumor, herein we report the detailed clinical and histopathologic findings for a case that we encountered.
CASE SUMMARY
A 60-year-old Chinese man presented with a solid mass in the right scrotum. The mass was surgically removed and spermatocytic tumor was diagnosed. On microscopy, the tumor cells displayed an unusual arrangement in lobules, presenting a pseudo-glandular appearance. To summarize and compare the diagnostic features of this tumor and those of the differential diagnoses, we report our case findings and those mentioned in the literature for various testicular tumors. Although imaging methods can detect masses early in development, their diagnostic capabilities are limited. Biopsy, histopathology, and immunohistochemistry are necessary for confirmatory diagnosis.
CONCLUSION
It is important to identify and review the key diagnostic features of spermatocytic tumor.
PubMed: 35047626
DOI: 10.12998/wjcc.v9.i35.11115 -
Journal of Fish Diseases Jun 2020The use of zebrafish (Danio rerio) in biomedical research has expanded at a tremendous rate over the last two decades. Along with increases in laboratories using this... (Review)
Review
The use of zebrafish (Danio rerio) in biomedical research has expanded at a tremendous rate over the last two decades. Along with increases in laboratories using this model, we are discovering new and important diseases. We review here the important pathogens and diseases based on some 20 years of research and findings from our diagnostic service at the NIH-funded Zebrafish International Resource Center. Descriptions of the present status of biosecurity programmes and diagnostic and treatment approaches are included. The most common and important diseases and pathogens are two parasites, Pseudoloma neurophilia and Pseudocapillaria tomentosa, and mycobacteriosis caused by Mycobacterium chelonae, M. marinum and M. haemophilum. Less common but deadly diseases are caused by Edwardsiella ictaluri and infectious spleen and kidney necrosis virus (ISKNV). Hepatic megalocytosis and egg-associated inflammation and fibroplasia are common, apparently non-infectious, in zebrafish laboratories. Water quality diseases include supersaturation and nephrocalcinosis. Common neoplasms are spindle cell sarcomas, ultimobranchial tumours, spermatocytic seminomas and a small-cell carcinoma that is caused by a transmissible agent. Despite the clear biosecurity risk, researchers continue to use fish from pet stores, and here, we document two novel coccidia associated with significant lesions in zebrafish from one of these stores.
Topics: Animals; Animals, Laboratory; Communicable Disease Control; Fish Diseases; Oregon; Research; Zebrafish
PubMed: 32291793
DOI: 10.1111/jfd.13165 -
Case Reports in Oncology 2021A 66-year-old man with vomiting and weight loss was referred to our hospital. Abdominal computed tomography showed small bowel obstruction caused by a presumed small...
A 66-year-old man with vomiting and weight loss was referred to our hospital. Abdominal computed tomography showed small bowel obstruction caused by a presumed small intestinal tumor. Single-balloon endoscopy showed an ulcerated tumor and marked stenosis of the jejunum. Immunohistochemical staining suggested the tumor to be poorly differentiated or undifferentiated carcinoma. The patient underwent open surgical resection of the jejunal tumor and regional lymph nodes both to improve the quality of life of the patient and to possibly get a cure of the presumed jejunal carcinoma. Pathological examination of the excised tumor and lymph nodes including para-aortic lymph nodes showed large-sized tumor cells and massive lymphocyte infiltrates. Immunostaining showed the tumor cells to be OCT3/4, AE1/AE3, CD117, and D2-40 positive, leading to the diagnosis of metastatic seminoma. With the preoperative diagnosis of a presumed burned-out tumor of the testis, the patient underwent left high orchiectomy. Pathological examination of the left testis showed marked scar tissue, no teratoma elements, and no residual tumor cells. Under the final diagnosis of regressed seminoma, the patient has received combination chemotherapy using bleomycin, etoposide, and cisplatin as adjuvant chemotherapy. Surgical oncologists should take regressed seminoma into their differential diagnosis when the biopsy specimens of the presumed intestinal malignancy show poorly differentiated or undifferentiated atypical cells with massive lymphocyte infiltrates, especially in postpubertal men. Confirmation of a malignant noninvasive component should be another important clue to the appropriate differential diagnosis when choosing between metastatic seminoma and poorly differentiated or undifferentiated intestinal primary malignancies.
PubMed: 33776737
DOI: 10.1159/000513027