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Do you know the relationship between gene mutations and family inheritance in adrenal cancer? Explore the genetic secrets behind it!
Adrenocortical carcinoma (ACC) is an aggressive cancer originating from the adrenal cortex, the gland primarily responsible for producing steroid hormones. The importance of ACC is that it may cause a variety of hormonal syndromes, such as Cushing's syndrome, Conn's syndrome, virilization and feminization, etc. At the time of diagnosis, adrenal cancer has usually invaded adjacent tissue or metastasized to distant organs, and the overall five-year survival rate is about 50%. This tumor is relatively rare, occurring in one to two cases per million people each year. Based on age distribution, cases of ACC are most concentrated among children under five years old and adults between 30 and 40 years old.
Signs and symptoms
Adrenal cancer may appear differently in children and adults. Tumors in children are often functional, with virilization being the most common symptom, followed by Cushing's syndrome and precocious puberty. In adults, the most common hormonal syndrome is Cushing's syndrome, followed by virilization. Other less common conditions, such as Kang syndrome and feminization, occur in less than 10% of cases. Non-functional tumors account for about 40% and usually appear as abdominal or flank pain, varicose veins or renal vein thrombosis. They may also be asymptomatic and discovered accidentally.
Pathophysiology
Although the main cause of adrenal cancer is unknown, families with Li–Fraumeni syndrome who carry mutations in the TP53 gene are at higher risk. Repeated mutations have been found in many genes, including TP53, CTNNB1, MEN1 and PRKAR1A. In addition, tumor manifestations are also closely related to h19, insulin-like growth factor II (IGF-II) and p57kip2 genes expressed on chromosome 11p. Gene expression signatures of tumors are important for assessing disease progression and prognosis in adrenal cancer.
The gene mutation pattern of ACC shows obvious genetic characteristics, which may be closely related to family inheritance.
Diagnosis
Laboratory examination
Hormonal syndrome in adrenal cancer needs to be confirmed through laboratory testing. Indicators of Cushing's syndrome include increased blood glucose and urinary cortisol, and adrenal virilization is manifested by increased phenylalanine and dehydroepiandrosterone. Kang's syndrome is characterized by hypokalemia and hyperaldosterone.
Imaging examination
Imaging examinations of the abdomen, including CT scans and magnetic resonance imaging (MRI), are valuable in determining the location of the tumor, differentiating it from other diseases, and the extent to which the tumor has invaded surrounding tissue. CT examination shows tumors with a dull appearance, usually due to necrosis, calcification, and hemorrhage, and peripheral enhancement after contrast injection. MRI shows the tissue signal characteristics of adrenal cancer.
Pathology
The diagnosis of adrenal tumors is usually confirmed by a pathologist after surgery. ACC usually presents as a large, yellow-brown tumor with areas of hemorrhage and necrosis. On microscopic examination, the presence of atypical proliferation and invasion of tumor cells is key to distinguishing small cancers from adrenal adenomas.
Treatment
Currently the only curative treatment is complete tumor removal, which can be performed even when the tumor has invaded large blood vessels. The five-year survival rate after successful surgery is approximately 50-60%. However, many patients may not be candidates for surgery. Radiofrequency ablation and radiation therapy are available for patients who are inoperable.
Prognosis
Overall, adrenal cancer has a poor prognosis, with a five-year survival rate of approximately 50%. Major factors affecting prognosis include patient age and tumor stage. Can the understanding of adrenal cancer and its genetic characteristics help us better understand its causes and treatment potential, and become an important direction for our future research?
