Primary cancer of unknown origin is a rare condition where malignant cells are found in the patient's body, but the exact site of origin remains unknown. Cancer can originate from any part of the body. Additionally, primary cancer (the cancer that first develops) can spread to other parts of the body, a process known as metastasis. Cancer cells often closely resemble those of their original tissue. For example, breast cancer cells may spread to the lungs. However, because these cancer cells originated from breast cancer, they still appear similar to breast cancer cells when they reach the lungs.
Sometimes doctors can find the place where cancer has spread, but not the primary site of cancer. This type of cancer is called an occult primary cancer or a hidden primary cancer.
In metastatic cancer, the cancer cells have already spread throughout the body, but where the primary cancer started is unknown.
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Patients with this type of cancer need to be examined to find the primary site of the cancer and obtain information about the spread of the cancer. When the primary cancer is found after examination, the cancer is no longer a cancer with an unknown primary site, and subsequent treatment should be based on the type of primary cancer.
In cancers where the primary site is unknown, many different tests may be required to determine the type of cancer. If a biopsy is indicated, it will be performed. During the biopsy, healthcare professionals will take cells or tissue samples from the body for examination under a microscope by a pathologist. The pathologist will examine the tissue to identify cancer cells and determine the type of cancer. The method of biopsy depends on the location of the cancer in the body and may include the following methods:
When the type of cancer cells or tissue obtained from a biopsy differs from the expected type, it may indicate an unknown primary cancer. Different types of cells in the body have distinct appearances. For example, a cancerous tissue sample taken from the breast should consist of breast cells. However, if the sample is composed of cells from a different type (not breast cells), it is likely that the cells have spread from another part of the body to the breast.
Adenocarcinoma, melanoma and embryonal tumors are common types of tumors with unknown primary sites. Embryonal tumors such as rhabdomyosarcoma and neuroblastoma are the most common primary tumors with unknown sites in children.
For information on the treatments listed below, see the treatment overview section above.
The treatment of cancer of unknown origin depends on the microscopic appearance of the cancer cells, the patient's age, signs and symptoms, and where the cancer has spread in the body. The treatment is usually as follows:
chemotherapy
targeted therapy
radiotherapeutics
Children with cancer of unknown origin can consider participating in clinical trials to test whether genes in the patient's tumor samples have changed. And based on the type of gene change, patients can be treated with targeted therapy.
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