Common Li-Fraumeni Syndrome Cancers
The majority of cancers which affect those with Li-Fraumeni syndrome fall within four main types: adrenocortical carcinomas, breast cancer, central nervous system tumors, and sarcomas.
Sarcomas are cancers that begin in the bone or soft tissues in the body, including fat, muscle, cartilage, fibrous tissue, or other connective tissue. There are more than 50 different types of soft tissue sarcomas, most of which can be seen in LFS.
Types of Sarcomas
Sarcomas are named by their location in the body. The most common sarcomas in LFS include:
Most common in children between the ages of 10 and 14 years, but can occur at any age. They are most often found in the long bones near growth plates. Symptoms include swelling near a bone, bone or joint pain and bone injury or break with no clear reason.
Rhabdomyosarcoma (skeletal muscle)
Most common in children less than the age of 5 years, but can occur at any age. It is most often found in the head and neck, bladder, reproductive system (such as vagina, uterus or testes), and arms and legs. Symptoms depend on location and can include headache, bulging/swelling of eyes, trouble with urination or bowel movements, lumps or pain, or bleeding in nose, throat, ears, vagina, orrectum.
Leiomyosarcoma (smooth muscle in blood vessels, abdomen, uterus, skin)
TreatmentsTreatment depends on the type, location, stage, and grade of the sarcoma. It can include surgery, radiation, chemotherapy and/or targeted therapy.
Breast cancer accounts for 27-31% of cancer in women with LFS. In the general population, the chance a woman will be diagnosed with breast cancer in her lifetime is around 12%. This risk is increased for women with LFS.
Breast cancer is a cancer that forms in the cells in the breast. It most often occurs in women but rarely can occur in men. Men with LFS are not known to be at an increased risk for breast cancer.
Types of Breast Cancer
There are multiple types of breast cancer. Some types that you may have heard of include:
- Ductal Carcinoma in situ (DCIS)
- Invasive ductal carcinoma (IDC)
Breast cancer is also characterized by hormone receptor status (ER/PR).
Symptoms include a breast lump or thickening that feels different from surrounding tissue, change in the size, shape and appearance of the breast. Dimpling of the skin (orange peel texture), newly inverted nipple, peeling scaling, crusty or flaky skin around the areola. (Mayoclinic.org)
Treatment can vary based on type, pathology, stage, and other factors. Treatment may include surgery (removal of the cancer/tumor is called lumpectomy, removal of the breast is called mastectomy), chemotherapy, and/or radiation.
Brain and spinal cord tumors (also known as central nervous system or CNS tumors) can develop in multiple areas or locations of the brain. They can be benign or malignant, and some grow more quickly than others.
Brain tumors account for 9-14% of LFS tumors. Brain tumors are most common in LFS patients under 10 and over 20 (BCCancer.BC.ca)
Types of Brain Tumors
There are many different types of brain tumors. Some are benign, some malignant. Brain tumor types you may hear of include:
- Choroid plexus carcinoma
The most common forms are Glioblastomas which is an aggressive type of cancer in the brain and/or spinal cord. It forms from cells called astrocytes that support nerve cells. Glioblastoma occurs at any age but is most prevalent in older adults. Astrocytomas which are also formed from astrocytes. When found in the brain Astrocytomas case similar symptoms to Glioblastomas but when found in the spinal cord astrocytomas can cause weakness and disability in the region of the body affected by the growing tumor. (mayoclinic.org) Another less common brain tumor which most commonly affects children with LFS is Choroid Plexus Carcinoma. It begins in the brain tissue that secretes cerebrospinal fluid. As it grows it can affect the functions of nearby structures of the brain causing excess fluid on the brain, irritability, nausea or vomiting and headaches. (mayoclinic.org)
Signs and symptoms of brain tumors can vary based on the location, pathology, size, and other features of the tumor. Common brain tumor symptoms can include:
- Worsening/persisting headache
- Developmental regression
- Loss of motor skills
- Blurred or double vision
Having any one or any of these symptoms does not mean that you have a tumor, but you should talk to your doctor who may recommend follow-up to help identify the cause of your symptoms.
Type of treatment can depend on many factors including the location, pathology, and stage of the tumor. Some brain tumors are observed with imaging such as brain MRI over time, while others may be treated with surgical resection (removal of the tumor), chemotherapy, and/or radiation.
Adrenocortical Carcinomas is a rare cancer in which malignant cells form in the outer layer of the adrenal gland.
Symptoms include; a lump in the abdomen, pain in the abdomen or back and a feeling of fullness in the abdomen. (cancer.gov)
Treatment for ACC may depend on age of diagnosis, pathology, stage of the tumor, and other factors. Treatment may include surgical resection, chemotherapy, and/or radiation.
Other LFS cancers include leukemia which accounts for 2-4% of LFS cancers, and colorectal cancer, which accounts for approximately 3%. Leukemia is a cancer of the body’s blood forming tissue. This includes the lymphatic system and bone marrow. Many types of Leukemia exist Some are more common in children and others in adults. It typically involves white blood cells which are the body’s infection fighters. When someone has Leukemia the body produces abnormal white blood cells that do not function properly. Symptoms include fever, chills, persistent fatigue, weakness, frequent infections, weight loss, swollen lymph nodes and easily bleeding and bruising. (mayoclinic.org)
Colorectal cancer is a cancer that begins in the cells of the colon or rectum. They grow into nearby tissue and destroy it. Cells in the colon or rectum sometimes change and can lead to non cancerous tumors such as hyperplastic and inflammatory polyps. Over time some of these polyps can become cancers. Symptoms include: a change in bowel habits including diarrhea or constipation, rectal bleeding or blood in your stool, persistent abdominal discomfort, feeling like your bowel does not empty completely, weakness, fatigue and unexplained weight loss. (mayoclinic.org)