pathology report

PMS2: Definition

PMS2 is a gene that produces a protein involved in repairing mistakes in a cell’s DNA. It is one of four key mismatch repair (MMR) proteins — along with MLH1, MSH2, and MSH6 — that work together to find and fix small errors that occur when DNA is copied during cell division. PMS2 and MLH1 …
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Oncocytic Adrenal Cortical Carcinoma: Understanding Your Pathology Report

Oncocytic adrenal cortical carcinoma is a rare cancer that starts in the adrenal cortex, the outer part of the adrenal gland. There are two adrenal glands in the body, one on top of each kidney. The adrenal cortex normally produces hormones that help control blood pressure, salt and water balance, metabolism, sexual development, and the …
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MLH1: Definition

MLH1 is a gene that produces a protein involved in repairing mistakes in a cell’s DNA. It is one of four key mismatch repair (MMR) proteins — along with PMS2, MSH2, and MSH6 — that work together to find and fix small errors that occur when DNA is copied during cell division. MLH1 and PMS2 …
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What is MITF?

MITF (microphthalmia-associated transcription factor) is a protein that helps regulate the development, function, and survival of certain types of cells, particularly melanocytes. Melanocytes are specialized cells found in the skin and other tissues where they produce a pigment called melanin. This pigment gives color to the skin, hair, and eyes. MITF plays a crucial role …
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What is a translocation?

A translocation is a type of genetic change where a piece of one chromosome breaks off and attaches to a different chromosome. Chromosomes are structures inside your cells that carry DNA, the instructions your body uses to grow, repair itself, and function properly. When pieces of chromosomes switch places, they can create new combinations of …
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Mycosis Fungoides: Understanding Your Pathology Report

Mycosis fungoides is a type of cancer called lymphoma that starts in the skin. A lymphoma is a cancer of lymphocytes, the white blood cells that help protect the body from infection. In mycosis fungoides, the cancerous cells are a type of lymphocyte called T cells, which build up in the skin and cause rashes, …
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What is a rearrangement?

In a molecular pathology report, the word rearrangement refers to a change in the DNA structure within a cell. DNA is usually organized into long strands called chromosomes, each containing many genes. A rearrangement happens when a piece of a chromosome breaks off and attaches somewhere else, either on the same chromosome or another chromosome. …
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What is a mutation?

A mutation is a change in a gene, which is a piece of DNA that provides instructions for how a cell should function. In a molecular pathology report, the word “mutation” means that there has been a genetic change in the tumour’s DNA. Some mutations are harmless, while others can contribute to cancer development or …
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Fusion: Definition

In a molecular pathology report, the word fusion refers to a specific genetic change in which two different genes that are normally separate join together. This joining creates a new, hybrid gene that produces an abnormal protein. These fusion events happen inside the cancer cells and are not something a person is born with. Because …
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