Pathologists and genomic sequencing?

[bob1234]

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When identifying a sample suspected of being cancerous, does a pathologist observe and report based upon cellular morphology alone? Will he/she recruit genomic sequencing tools to further investigate the malignancy? Do you review other lab tests?

 

[Euchromatin]

There are a growing number of malignancies with characteristic molecular abnormalities that can help us make an initial diagnosis, that affect prognosis and/or can predict whether specific treatments will be efficacious. So most of the molecular evaluation that is done for clinical purposes is very targeted (i.e. FISH or PCR to find expected gene rearrangements, PCR for mutations status of specific genes/loci, immunohistochemistry to look for change in expression of protein products). Larger genome-wide studies with aCGH/SNP arrays or next gen sequencing techniques are certainly being done for research purposes (often looking for new biomarkers which could be targeted with small molecule inhibitors, among other things), but using that sort of broad evaluation hasn't been integrated into day to day clinical practice yet.

In response to your second question, yes, we certainly review other tests in making diagnoses. We regularly review imaging/endoscopic findings, operative and other clinical notes, other lab values, etc. It is very helpful, and in some instances completely necessary, to integrate clinical and pathologic findings in order to make a specific diagnosis.

 

[bob1234]

There are a growing number of malignancies with characteristic molecular abnormalities that can help us make an initial diagnosis, that affect prognosis and/or can predict whether specific treatments will be efficacious. So most of the molecular evaluation that is done for clinical purposes is very targeted (i.e. FISH or PCR to find expected gene rearrangements, PCR for mutations status of specific genes/loci, immunohistochemistry to look for change in expression of protein products). Larger genome-wide studies with aCGH/SNP arrays or next gen sequencing techniques are certainly being done for research purposes (often looking for new biomarkers which could be targeted with small molecule inhibitors, among other things), but using that sort of broad evaluation hasn't been integrated into day to day clinical practice yet.

In response to your second question, yes, we certainly review other tests in making diagnoses. We regularly review imaging/endoscopic findings, operative and other clinical notes, other lab values, etc. It is very helpful, and in some instances completely necessary, to integrate clinical and pathologic findings in order to make a specific diagnosis.

Wow. That was a stellar response.

During the investigation of a blood cancer like cml, would a pathologist use FISH to look for bcr/abl rearrangement or is that done by the lab?