obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Tumor signet ring cells #10066

Open MickeySegal opened 1 year ago

MickeySegal commented 1 year ago

Preferred term label: Tumor signet ring cells

Synonyms

Definition (free text, please give PubMed ID) An example is https://www.ncbi.nlm.nih.gov/medgen/?term=C1335170

Parent term (use hpo.jax.org/app) HPO has https://hpo.jax.org/app/browse/term/HP:0032175, which has a very similar name but an unrelated concept.

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) https://www.ncbi.nlm.nih.gov/books/NBK482284/

Your nano-attribution (ORCID)

pnrobinson commented 2 months ago

@MickeySegal the HPO wants to extend out to pathological findings and has one new branch Biospecimen phenotypic feature This branch is appropriate if one is phenotyping a tumor or biospecimen. If one is recording the observation of a Krukenberg tumor in a patient, then the following term would be appropriate

Krukenberg tumor def: Krukenberg tumor is a metastatic signet-ring cell adenocarcinoma of the ovary characterized by mucin-rich, signet-ring cells. comment: Krukenberg tumors originate from a gastrointestinal primary in 70% of cases, but also involving the colon, breast, appendix, and biliary tract. Krukenberg tumor is characterized by mucin-laden signet ring cells with offset, hyperchromatic nuclei. The cytoplasmic mucin within signet ring cells is necessary for diagnosis. The cytoplasm of the signet ring cells may be diffusely granular with eosinophilic bodies, largely vacuolated, or a combination featuring a large vacuole containing a drop of mucin, creating an eosinophilic body. Many patterns of signet ring cell organization are possible even within the same tumor. PMID: 29489206

It is probably better to go with the above term for now, since the pathology findings will be a big lift and we want to do it systematically with workshops. Thoughts?

MickeySegal commented 2 months ago

But also: https://www.ncbi.nlm.nih.gov/books/NBK541116/ High-grade mucinous carcinoma peritonei with signet ring cells: Any lesion with a component of signet ring cells, classified separately because of their worse prognosis