-
International Journal of Molecular... Oct 2022Ovarian cancer is the deadliest gynecological cancer, leading to over 152,000 deaths each year. A late diagnosis is the primary factor causing a poor prognosis of... (Review)
Review
Ovarian cancer is the deadliest gynecological cancer, leading to over 152,000 deaths each year. A late diagnosis is the primary factor causing a poor prognosis of ovarian cancer and often occurs due to a lack of specific symptoms and effective biomarkers for an early detection. Currently, cancer antigen 125 (CA125) is the most widely used biomarker for ovarian cancer detection, but this approach is limited by a low specificity. In recent years, multimarker panels have been developed by combining molecular biomarkers such as human epididymis secretory protein 4 (HE4), ultrasound results, or menopausal status to improve the diagnostic efficacy. The risk of ovarian malignancy algorithm (ROMA), the risk of malignancy index (RMI), and OVA1 assays have also been clinically used with improved sensitivity and specificity. Ongoing investigations into novel biomarkers such as autoantibodies, ctDNAs, miRNAs, and DNA methylation signatures continue to aim to provide earlier detection methods for ovarian cancer. This paper reviews recent advancements in molecular biomarkers for the early detection of ovarian cancer.
Topics: Algorithms; Autoantibodies; Biomarkers, Tumor; CA-125 Antigen; Carcinoma, Ovarian Epithelial; Female; Humans; MicroRNAs; Ovarian Neoplasms; Proteins
PubMed: 36233339
DOI: 10.3390/ijms231912041 -
Hormone Research in Paediatrics 2015Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of... (Review)
Review
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous system haemangioblastomas, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, endolymphatic sac tumours, and additionally, renal and pancreatic cystadenomas and epididymal cystadenomas in men. VHL syndrome is a highly complex disease; hence, the diagnosis is often difficult. The diagnosis of any of the characteristic tumours, particularly in children, is an implicit indication for the necessity of diagnosis and genetic tests in the patient and family members and for intensive supervision of carriers of the mutated gene, thereby improving early diagnosis and successful treatment of the malignancies.
Topics: Child; Genetic Testing; Humans; Vascular Neoplasms; von Hippel-Lindau Disease
PubMed: 26279462
DOI: 10.1159/000431323 -
Gastroenterology Sep 2021WAP 4-disulfide core domain protein 2 (WFDC2), also known as human epididymis protein 4, is a small secretory protein that is highly expressed in fibrosis and human...
BACKGROUND & AIMS
WAP 4-disulfide core domain protein 2 (WFDC2), also known as human epididymis protein 4, is a small secretory protein that is highly expressed in fibrosis and human cancers, particularly in the ovaries, lungs, and stomach. However, the role of WFDC2 in carcinogenesis is not fully understood. The present study aimed to investigate the role of WFDC2 in gastric carcinogenesis with the use of preneoplastic metaplasia models.
METHODS
Three spasmolytic polypeptide-expressing metaplasia (SPEM) models were established in both wild-type and Wfdc2-knockout mice with DMP-777, L635, and high-dose tamoxifen, respectively. To reveal the functional role of WFDC2, we performed transcriptomic analysis with DMP-777-treated gastric corpus specimens.
RESULTS
Wfdc2-knockout mice exhibited remarkable resistance against oxyntic atrophy, SPEM emergence, and accumulation of M2-type macrophages in all 3 SPEM models. Transcriptomic analysis revealed that Wfdc2-knockout prevented the up-regulation of interleukin-33 (IL33) expression in the injured mucosal region of SPEM models. Notably, supplementation of recombinant WFDC2 induced IL33 production and M2 macrophage polarization, and ultimately promoted SPEM development. Moreover, long-term treatment with recombinant WFDC2 was able to induce SPEM development.
CONCLUSIONS
WFDC2 expressed in response to gastric injury promotes SPEM through the up-regulation of IL33 expression. These findings provide novel insights into the role of WFDC2 in gastric carcinogenesis.
Topics: Animals; Atrophy; Cell Transformation, Neoplastic; Disease Models, Animal; Gastric Mucosa; Gene Expression Profiling; Intercellular Signaling Peptides and Proteins; Interleukin-33; Macrophages; Metaplasia; Mice, Inbred C57BL; Mice, Knockout; Phenotype; Precancerous Conditions; Stomach Neoplasms; Transcriptome; Up-Regulation; WAP Four-Disulfide Core Domain Protein 2; Mice
PubMed: 34116028
DOI: 10.1053/j.gastro.2021.05.058 -
Andrology Sep 2021Ultrasound (US) is the primary modality for the investigation of scrotal pathology, including both intra- and paratesticular abnormalities. (Review)
Review
BACKGROUND
Ultrasound (US) is the primary modality for the investigation of scrotal pathology, including both intra- and paratesticular abnormalities.
OBJECTIVE
To describe the abnormalities of the paratesticular space.
MATERIALS/METHODS
The paratesticular space contains the epididymis, spermatic cord and the tunica vaginalis cavity and is affected by a variety of inflammatory or tumoral entities. Differential diagnosis based on US criteria is frequently problematic, as the findings are non-specific.
RESULTS
Some general rules apply: (i) unlike testicular lesions, extra-testicular entities are usually benign in the adult, (ii) the first steps to accurate diagnosis include careful localization of the lesion and assessment of its consistency (solid or cystic) and (iii) magnetic resonance imaging can be useful for further tissue characterization of lesions suspected to contain fat, but surgical biopsy will often provide the definite diagnosis. Contrast-enhanced ultrasound (CEUS) has been applied with limited experience indicating a narrow role, primarily for the differential diagnosis of echogenic cystic entities and the delineation of a necrotic abscess from a solid neoplasm.
DISCUSSION
The various abnormalities are discussed and illustrated.
CONCLUSION
This manuscript summarizes the literature on paratesticular lesions and the value of US in diagnosis.
Topics: Adult; Contrast Media; Diagnosis, Differential; Epididymis; Genital Diseases, Male; Humans; Male; Scrotum; Spermatic Cord; Testicular Diseases; Testis; Ultrasonography
PubMed: 33864338
DOI: 10.1111/andr.13021 -
Asian Journal of Andrology 2019Up to 15% of male infertility has an immunological origin, either due to repetitive infections or to autoimmune responses mainly affecting the epididymis, prostate, and... (Review)
Review
Up to 15% of male infertility has an immunological origin, either due to repetitive infections or to autoimmune responses mainly affecting the epididymis, prostate, and testis. Clinical observations and epidemiological data clearly contradict the idea that the testis confers immune protection to the whole male genital tract. As a consequence, the epididymis, in which posttesticular spermatozoa mature and are stored, has raised some interest in recent years when it comes to its immune mechanisms. Indeed, sperm cells are produced at puberty, long after the establishment of self-tolerance, and they possess unique surface proteins that cannot be recognized as self. These are potential targets of the immune system, with the risk of inducing autoantibodies and consequently male infertility. Epididymal immunity is based on a finely tuned equilibrium between efficient immune responses to pathogens and strong tolerance to sperm cells. These processes rely on incompletely described molecules and cell types. This review compiles recent studies focusing on the immune cell types populating the epididymis, and proposes hypothetical models of the organization of epididymal immunity with a special emphasis on the immune response, while also discussing important aspects of the epididymal immune regulation such as tolerance and tumour control.
Topics: Adaptive Immunity; Animals; Epididymis; Fertility; Genital Neoplasms, Male; Humans; Immunity, Innate; Infertility, Male; Male; Spermatozoa
PubMed: 30924450
DOI: 10.4103/aja.aja_11_19 -
Asian Journal of Andrology May 2012Epididymal tumour incidence is at most 0.03% of all male cancers. It is an enigma why the human epididymis does not often succumb to cancer, when it expresses markers of... (Review)
Review
Epididymal tumour incidence is at most 0.03% of all male cancers. It is an enigma why the human epididymis does not often succumb to cancer, when it expresses markers of stem and cancer cells, and constitutively expresses oncogenes, pro-proliferative and pro-angiogenic factors that allow tumour cells to escape immunosurveillance in cancer-prone tissues. The privileged position of the human epididymis in evading tumourigenicity is reflected in transgenic mouse models in which induction of tumours in other organs is not accompanied by epididymal neoplasia. The epididymis appears to: (i) prevent tumour initiation (it probably lacks stem cells and has strong anti-oxidative mechanisms, active tumour suppressors and inactive oncogene products); (ii) foster tumour monitoring and destruction (by strong immuno-surveillance and -eradication, and cellular senescence); (iii) avert proliferation and angiogenesis (with persistent tight junctions, the presence of anti-angiogenic factors and misplaced pro-angiogenic factors), which together (iv) promote dormancy and restrict dividing cells to hyperplasia. Epididymal cells may be rendered non-responsive to oncogenic stimuli by the constitutive expression of factors generally inducible in tumours, and resistant to the normal epididymal environment, which mimics that of a tumour niche promoting tumour growth. The threshold for tumour initiation may thus be higher in the epididymis than in other organs. Several anti-tumour mechanisms are those that maintain spermatozoa quiescent and immunologically silent, so the low incidence of cancer in the epididymis may be a consequence of its role in sperm maturation and storage. Understanding these mechanisms may throw light on cancer prevention and therapy in general.
Topics: Animals; Cell Proliferation; Disease Models, Animal; Epididymis; Genital Neoplasms, Male; Humans; Incidence; Male; Mice; Mice, Transgenic; Rare Diseases
PubMed: 22522502
DOI: 10.1038/aja.2012.20 -
BioMed Research International 2017Primary epididymal adenocarcinoma (PEA) is exceedingly rare. Only 22 cases had been published worldwide by 2008; nearly 80% of these cases were reported before 2007. In... (Review)
Review
Primary epididymal adenocarcinoma (PEA) is exceedingly rare. Only 22 cases had been published worldwide by 2008; nearly 80% of these cases were reported before 2007. In order to investigate the current clinical status of PEA, we search for relevant literatures with "epididymis and adenocarcinoma" and "epididymal and adenocarcinoma" as keywords published between January 1997 and November 2017 in PubMed. As a result, 17 cases are identified. We review these cases and summarize new and important perspectives about the clinicopathological characteristics, diagnosis, treatment, and prognosis of PEA in the present review.
Topics: Adenocarcinoma; Epididymis; Humans; Male; Prognosis; Testicular Neoplasms
PubMed: 29423406
DOI: 10.1155/2017/4126740 -
American Family Physician Feb 1998Family physicians often must evaluate patients with testicular pain or masses. The incidental finding of a scrotal mass may also require evaluation. Patients may seek... (Review)
Review
Family physicians often must evaluate patients with testicular pain or masses. The incidental finding of a scrotal mass may also require evaluation. Patients may seek evaluation of a scrotal mass as an incidental finding. An accurate history combined with a complete examination of the male external genitalia will help indicate a preliminary diagnosis and proper treatment. Family physicians must keep in mind the emergency or "must not miss" diagnoses associated with testicular masses, including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. Referral to a urologist should be made immediately if one of these diagnoses is suspected. Benign causes of scrotal masses, including hydrocele, varicocele and spermatocele, may be diagnosed and managed easily in the primary care office.
Topics: Diagnosis, Differential; Epididymitis; Genital Diseases, Male; Hernia, Inguinal; Humans; Male; Orchitis; Spermatic Cord Torsion; Spermatocele; Testicular Diseases; Testicular Hydrocele; Testicular Neoplasms; Varicocele
PubMed: 9490992
DOI: No ID Found -
The Turkish Journal of Pediatrics 2022Placental transmogrification of the lung (PTL) is a clinical spectrum varying from asymptomatic to severe pulmonary impairment; such as recurrent pneumothorax,...
BACKGROUND
Placental transmogrification of the lung (PTL) is a clinical spectrum varying from asymptomatic to severe pulmonary impairment; such as recurrent pneumothorax, bronchopneumonia, respiratory distress syndrome and chronic obstructive airway disease. PTL usually presents as a bullous lesion, and rarely can appear in nodule or cyst formation on chest imaging. PTL with giant bullous emphysema has a male preference, is more commonly unilateral and mostly affects one lobe, but can rarely involve more than one lobe.
CASE
Here we report a 13-year-old boy presenting with bullous emphysema and coexisting with a borderline testicular tumor. He had no complaints of cough, sputum, or shortness of breath. He had a past medical history of pneumonia five years ago. In order to elucidate the underlying lung pathology, a wedge lung biopsy was performed and the patient was diagnosed with PTL. Scrotum ultrasonography was performed because of hydrocele in both testes, and bilateral epididymal cysts with papillary solid projections were reported. Pathological examination of the epididymal tumor revealed a `Mullerian type borderline epithelial neoplasm` which is an analogue of the ovarian serous borderline tumor.
CONCLUSIONS
In conclusion, we reported the youngest PTL case in the literature, a rare disease with unknown pathophysiology, presenting as bullous emphysema and coincidental Mullerian type borderline epithelial neoplasm. It is important to diagnose placental transmogrification of the lung in a child with bullous emphysema because compared to other cystic lung diseases it is a benign disease and if no additional malignity exists, lobectomy or pneumonectomy is the cure for the disease.
Topics: Child; Male; Female; Humans; Pregnancy; Adolescent; Placenta; Pulmonary Emphysema; Lung; Emphysema; Neoplasms, Glandular and Epithelial
PubMed: 36305451
DOI: 10.24953/turkjped.2021.5515 -
International Journal of Molecular... Jun 2023Currently, ovarian cancer (OC) is a target of intense biomarkers research because of its frequent late diagnosis and poor prognosis. Serum determination of Human... (Review)
Review
Currently, ovarian cancer (OC) is a target of intense biomarkers research because of its frequent late diagnosis and poor prognosis. Serum determination of Human epididymis protein 4 (HE4) is a very important early detection test. Most interestingly, HE4 plays a unique role in OC as it has been implicated not only in OC diagnosis but also in the prognosis and recurrence of this lethal neoplasm, actually acting as a clinical biomarker. There are several evidence about the predictive power of HE4 clinically, conversely less has been described concerning its role in OC oncogenesis. Based on these considerations, the main goal of this review is to clarify the role of HE4 in OC proliferation, angiogenesis, metastatization, immune response and also in the development of targeted therapy. Through a deeper understanding of its functions as a key molecule in the oncogenetic processes underlying OC, HE4 could be possibly considered as an essential resource not only for diagnosis but also for prognosis and therapy choice.
Topics: Humans; Female; Proteins; Biomarkers, Tumor; Ovarian Neoplasms; Carcinogenesis; Cell Transformation, Neoplastic; CA-125 Antigen
PubMed: 37445657
DOI: 10.3390/ijms241310479