ATRX stands for alpha-thalassemia/mental retardation X-linked. The ATRX gene provides instructions for producing the ATRX protein, which plays a crucial role in the packaging and repair of DNA within our cells. This protein helps control which genes are turned on or off, supports DNA repair, and maintains the ends of chromosomes, known as telomeres. ATRX …
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NTRK refers to a family of genes—NTRK1, NTRK2, and NTRK3—that provide instructions for making proteins called Trk-A, Trk-B, and Trk-C. These proteins are located on the cell surface and play a crucial role in regulating essential processes, such as cell growth and survival. In early development, they help nerve cells grow and form connections. In …
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PTEN (phosphatase and tensin homolog) is a gene that gives instructions to make the PTEN protein. This protein acts as a tumor suppressor, meaning it helps stop cells from growing and dividing too quickly. When PTEN is lost or changed, cells may grow out of control and form tumors. What does the PTEN protein do? …
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IDH1 and IDH2 are genes that provide instructions for making proteins called isocitrate dehydrogenase 1 and 2. These proteins help cells produce energy by participating in a normal chemical process that converts one molecule (isocitrate) into another (α-ketoglutarate), a process essential for many cellular functions. These proteins also help regulate the balance of other molecules …
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Benign vascular proliferation is a term pathologists use to describe a non-cancerous growth of small blood vessels. These growths are made up of endothelial cells, which are the cells that line the inside of blood vessels. The word “benign” means the lesion is not cancer, and “vascular proliferation” means there is an increased number of …
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Spindle cell lesion is a term pathologists use to describe a group of spindle-shaped cells seen under the microscope. These cells are long and thin, often described as cigar-shaped or tapered at the ends, and are commonly found in connective tissues like muscle, fibrous tissue, and the lining of blood vessels. This term is often …
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Atypical fibroxanthoma (AFX) is a rare skin tumour that typically affects older adults with sun-damaged skin. It most often develops in areas exposed to long-term ultraviolet (UV) light, such as the scalp, face, or ears. Although AFX can appear concerning under the microscope, it typically behaves in a non-aggressive (low-grade) manner when strict diagnostic criteria …
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Pleomorphic dermal sarcoma (PDS) is a rare type of skin cancer that usually affects older adults, especially those with extensive sun damage on their skin. It most often appears on the scalp or face, areas that have received a lot of ultraviolet (UV) exposure over time. PDS is considered related to another tumour called atypical …
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A perineurioma is a rare, non-cancerous tumour that arises from perineurial cells, which are part of the protective sheath that surrounds nerves. These tumours belong to a group of tumours called peripheral nerve sheath tumours. Most perineuriomas are found in soft tissue, but they can also occur within nerves (intraneural perineuriomas) or on mucosal surfaces such …
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Sarcomatoid carcinoma is a type of cancer that contains features of both carcinoma and sarcoma. Carcinomas are cancers that start in epithelial cells, which line the surface of organs, while sarcomas are cancers that start in mesenchymal cells, such as those found in connective tissue, bone, or muscle. In sarcomatoid carcinoma, the tumour starts as …
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