A common example is Philadelphia chromosome, or translocation of chromosomes 9 and 22, which occurs in chronic myelogenous leukaemia, and results in production of the BCR-abl fusion protein, an oncogenic tyrosine kinase. Translocation is yet another process when two separate chromosomal regions become abnormally fused, often at a characteristic location.

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Disruption of a single gene may also result from integration of genomic material from a DNA virus or retrovirus. This changes the protein coded for by the particular gene. There may be deletions, and insertions especially at the promoter region of the gene. Point mutations occur at single nucleotides. Here a cell gains many copies (often 20 or more) of a small chromosomal locus, usually containing one or more oncogenes and adjacent genetic material. Sometimes there may be genomic amplification. Typically, changes in many genes are required to transform a normal cell into a cancer cell. This is caused by cancer-promoting genetic changes. In patients with cancer these tumor suppressor genes are often disabled.

Tumor suppressor genes – these genes normally inhibit cell division and prevent survival of cells that have damaged DNA.

In both cases these genes lead to cancerous changes in the tissues. They may be normal genes which are expressed at inappropriately high levels in patients with cancers or they may be altered or changed normal genes due to mutation.

Oncogenes – these are cancer causing genes.

There are two broad categories of genes which are affected by these change: There could be a gain or loss of entire chromosomes or a single point mutation affecting a single DNA nucleotide. Genetic changes can occur at many levels. In normal cells, genes regulate growth, maturity and death of the cells.

Pathology of cancers and other complex disorders have undergone a sea change after development of technologies like immunohistochemistry, flow cytometry, and molecular biologic approaches to cancer diagnosis. They also deal with biochemical features, progression, and prognosis or outcome of the disease. This includes cause of the disease, diagnosis, how the disease develops (pathogenesis), mechanism and natural course of the disease. Pathologists are physicians who are concerned primarily with the study of disease in all its aspects.

Ananya Mandal, MD Reviewed by April Cashin-Garbutt, MA (Editor)Ĭancer has a complex Pathophysiology.

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