Pathology observables
Dialogue on development of pathology observables templates
Comments
Revisiting some earlier work, I note a discrepancy between LOINC assignment and our definition. I think that Swapna appropriately deined this as an area fraction which we do not have in Measurement properties, but I also ask if this would be the correct model for observing the fraction of the cancer that was mucinous adenocarcinoma vs (not mucinous) Adenocarcinoma?
Mucinous histologic fraction of excised colon neoplasm 85282-2
ISA Histologic feature of tumor
COMPONENT Mucinous adenocarcinoma
Direct site Formalin fixed paraffin embedded tissue specimen
INHERENT LOCATION Colon structure
INHERES IN Malignant neoplasm
PROPERTY (Area fraction) has this been added to international?
RELATIVE TO Adenocarcinoma
TECHNIQUE Light microscopy
SCALE TYPE Quantitative
Based on our last call and my analysis of the CAP Lung Biomarker worksheet with input from our FISH expert, I note the following observations and suggestions as related to FISH observables.
Two specific aspects of FISH are noted in the CAP protocols
Copy number for a gene locus
Structural changes of the chromosome related to a gene locus
Each measure a different property: count (number) and structural change
Copy count which includes polyploidy, diploidy, monoploidy or complete deletion are represented by a count/number property. Therefore, I suggest the observable be modeled as copy count or number of gene X loci observed. The answer will be an integer.
Gene amplification, as reported by FISH, is a copy count in excess of some threshold which can vary. However, gene amplification is not solicited as part of the CAP protocol. Its representation does not appear to be necessary.
Structural changes (or rearrangements) measure a different property, Morphologic abnormality of a chromosome. The specific changes can be translocations, fusions, inversions, etc. However, they are all morphologic abnormalities of the chromosome. The CAP protocols solicit the specific changes, and the answer sets as listed indicate, by nomenclature, what type of change was noted. The ALK gene is an example. Other gene loci simply solicit if a rearrangement is present or not. Example the ROS1 gene.
I propose 2-3 types of observable entities
Copy count
Status of rearrangement
Type of rearrangement
SNOMED CT cell structure defines chromosomal pairs. Concepts for chromosome by number may be indicated for better modeling
Question on a new concept which seems like a '\Presence property but the finding of post-obstructive pneumonitis (clinical finding) is not allowed in Component:
"Status of tumor associated postobstructive pneumonitis in excised lung specimen (observable entity)"
ISA Observable entity
COMPONENT (Post-obstructive pneumonia, a finding, is not allowed by MRCM)
INHERES IN Specimen from lung obtained by lobectomy
PROPERTY TYPE Presence
TECHNIQUE Anatomic pathology technique
SCALE TYPE Ordinal
Please provide guidance on the modeling
Jim