Adenocarcinomata are usually diagnosed after they are excised, based on tissue diagnosis. Some produce the tumour marker Ca-125, which can be used to monitor for reoccurence afterwards. Even rarer neoplasms include sarcoma, squamous cell carcinoma, yolk sac tumor, neuroendocrine carcinoma, paraganglioma, epithelial stromal tumors and lymphoma. Investigations
Symptoms due to diseases of the seminal vesicles may be vague and not able to be specifically attributable to the vesicles themselves; additionally, some conditions such as tumours or cysts may not cause any symptoms at all. When diseases is suspected, such as due to pain on ejaculation, blood in the urine, infertility, due to urinary tract obstruction, further investigations may be conducted.A digital rectal examination, which involves a finger inserted by a medical practitioner through the anus, may cause greater than usual tenderness of the prostate gland, or may reveal a large seminal vesicle. Palpation is dependent on the length of index finger as seminal vesicles are located above the prostate gland and retrovesical (behind the bladder). A urine specimen may be collected, and is likely to demonstrate blood within the urine. Laboratory examination of seminal vesicle fluid requires a semen sample, e.g. for semen culture or semen analysis. Fructose levels provide a measure of seminal vesicle function and, if absent, bilateral agenesis or obstruction is suspected.Imaging of the vesicles is provided by medical imaging; either by transrectal ultrasound, CT or MRI scans.
This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.Two adult siblings, both heterozygous for two particular NBS1 nonsense mutations displayed cellular sensitivity to radiation, chromosome instability and fertility defects, but not the developmental defects that are typically found in other NBS patients. These individuals appear to be primarily defective in homologous recombination, a process that accurately repairs double-strand breaks, both in somatic cells and during meiosis. Diagnosis
Treatment
There is no treatment for NBS; however in those with agammaglobulinemia, intravenous immunoglobulin may be started. Prophylactic antibiotics are considered to prevent urinary tract infections as those with NBS often have congenital kidney malformations. In the treatment of malignancies, radiation therapy, alkylating antineoplastic agents, and epipodophyllotoxins are not used, and methotrexate can be used only with caution; the dose should be limited. Bone marrow transplants and hematopoietic stem cell transplants are also considered in the treatment of NBS. The supplementation of vitamin E is also recommended. A ventriculoperitoneal shunt can be placed in patients with hydrocephalus, and surgical intervention for congenital deformities is also attempted.