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2

Time machine for cancer diagnosis

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Exciting new genetic testing technology has improved the speed and accuracy of cancer diagnosis.

One of the most important improvements in oncology was the introduction of target therapy. It allowed clinicians to prescribe a pharmacological treatment specifically programmed to fight and kill only cancer cells, unlike wide-spectrum chemotherapy (Slamon D.J. et al. 2001).
To define a patient as eligible to receive target therapy, it is necessary to define the genetic profile of the cancer cells.
Among the techniques that have been developed in the past 20–30 years, one of the most used and considered the gold standard is in situ hybridization.
This technique is based on the principle of the specificity of the DNA sequences and uses genetic probes to recognize a specific gene, chromosome, or part of them.
This enables labs to see if there are numerical alterations, such as multiple copies of the genes; a reduction in the genes’ copies; or structural alterations such as deletions, inversions, or rearrangements; and then, to emit a report.
For example, in breast cancer it is important to define the number of the HER2 gene to assess the eligibility for the dedicated therapy; or in brain cancer where the loss of some parts of chromosome 1 and chromosome 19 is related to a specific cancer type (Slamon D.J. et al 2001; Barbashina V. et al 2005).
Today it is common to label these DNA probes with fluorescent dyes. Figure 1-1 shows one example of fluorescent in situ hybridization (FISH): the red and green dots are respectively two different genes. The blue big bodies are the cell nuclei.

Figure 1-1. FISH test: red indicates the test gene; green, the control gene; blue bodies, the cell nuclei

Following the last WHO guidelines for cancer diagnosis, the molecular characterization of an individual’s cancer cells is becoming mandatory, and it is fundamental to do a complete and accurate diagnosis.
The main problem is that these tests require at least two or three working days and are costly.
The wait reduces the lab’s capability to quickly emit a genetic report and also reduces the number of tests that could be performed daily.
The delay in diagnosis is not only a problem for the hospital administration in planning patients’ followup but is also related to an increasing amount of anxiety disorders among cancer patients (Baqutayan SMS 2012).
This limit of the FISH and the general ISH techniques started to become relevant once the new therapeutic targeted drugs for specific genetic assets were enlisted among the first-line treatments being prescribed to patients after their first biopsy.
Some examples of cancer treatment based on the ISH techniques results include the use of an antibody called Trastuzumab for the breast cancers with the amplification of the HER2 gene, or another antibody called Crizotinib, specific for a lung cancer type characterized by ALK gene genetic alterations (Voegel et al. 2002; Solomon B.J et al. 2014)
Continue reading Time machine for cancer diagnosis.

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Created by nolan 1 week 1 day ago – Made popular 1 week 1 day ago
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