Thursday, June 23, 2016

It's all in the genes

As part of the surgery to implant the plaque, I opted into another procedure called a fine needle aspiration (FNA) biopsy. It's exactly what it sounds like. The idea was to:
  1. confirm the original diagnosis and 
  2. find out more about the tumor (such as its likelihood to metastasize or kill me)

The first was quick to determine: the cells from the biopsy were consistent with a low-grade melanoma. Glad we did that whole plaque thing then :)

The second required more lengthy analysis. 3 chromosomes were analyzed: 3, 6, and 8. The results for chromosomes 3 and 8 were normal ("disomy"); chromosome 6 was "amplified," however apparently this region of chromosome 6 (6p and 6q) is not correlated with increased risk of metastasis (which begs the question why are we testing it, but I'm sure this result was heavily diluted for the lay person so the question is moot). It seems that monosomy of chromosome 3 or amplification of chromosome 8q are changes that are associated with an increased risk for developing metastatic disease. *Whew*, amirite?

TL;DR: based on genetic makeup alone (i.e. discounting size and location of tumor), there is a low risk that this will metastasize elsewhere for me.

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Some definitions from the result materials I received:

Chromosomes: visible rod-like structures in each cell of the body that contain genetic material. Normal human cells have 23 pairs of chromosomes. The chromosomes are in pairs (two copies) because one copy of each chromosome is inherited from your mother and father. There are specific genes located on each chromosome, and the number of genes varies for each chromosome.

Somatic: refers to genetic material that is found in a specific tissue or cell-type in the body. In genetic testing, when a DNA mutation is defined as a somatic mutation, there is very little risk of passing on the mutation to children. Most cancers have somatic mutations meaning a mutation occurred in a single cell that disrupted normal cell growth, which allowed a tumor to grow.

Disomy: refers to the normal number of two copies of a chromosome.

Monosomy: refers to an abnormal number of only one copy of a chromosome.

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