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Review osteosarcoma (DOID:3347) and inferred children #1252

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allenbaron opened this issue Oct 19, 2023 · 3 comments
Open

Review osteosarcoma (DOID:3347) and inferred children #1252

allenbaron opened this issue Oct 19, 2023 · 3 comments
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@allenbaron
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allenbaron commented Oct 19, 2023

osteosarcoma (DOID:3347) has the equivalent class axiom:

cancer and (
    ('derives from' some fibroblast) or
    ('derives from' some chondroblast) or
    ('derives from' some osteoblast)
)

A number of osteosarcoma descendants use this 'derives from' union axiom to infer their relationship. Somehow ELK 0.4.3 was able to establish this relationship but unions like this are not supported by ELK (so it was kind of a fluke) and ELK 0.5.0 no longer creates these relationships.

osteosarcoma and it's inferred children need to be reviewed to determine where asserted relationships should be added and the diseases generally updated; a number of these disease terms are older and lack definitions.

Previously Inferred children

  • 'malignant fibrous histiocytoma of bone' (DOID:3352)
  • 'localized osteosarcoma' (DOID:3356)
  • 'extraosseous osteosarcoma' (DOID:3357)
  • 'liposarcoma of bone' (DOID:3381)
  • 'mediastinal osteogenic sarcoma' (DOID:6208)
  • 'hepatic osteogenic sarcoma' (DOID:6370)
@sbello
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sbello commented Dec 29, 2023

Adding some questions to this:

  1. Why isn't localized osteosarcoma asserted to be a child of osteosarcoma?
  2. What is the difference between osteosarcoma (defined as " A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin.") and bone osteosarcoma (no definition)?
  3. Should adult extraosseous osteosarcoma (DOID:7827) be a child of osteosarcoma given that osteosarcoma is defined as being located in the bone and extraosseous osteosarcoma is defined as being in the soft tissue and producing bone?

Also localized osteosarcoma is lacking a definition. How is this different from osteosarcoma generally?

@lschriml
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Thank you for the follow up Sue:
Question 1: localized osteosarcoma should be a child of osteosarcoma
-- parentage has been updated, definition added

Question 2:
What is the difference between osteosarcoma (defined as " A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin.") and bone osteosarcoma (no definition)?

NCI thesaurus treats them as distinct.

 --> I would say that 'bone osteosarcoma' should be a child of 'osterosarcoma' -- as 'osteosarcoma':

usually involves bones and less frequently extraosseous sites

-- reviving definition and looking at NCIthesaurus:
Osteosarcoma. NCI:C9145
-- definition:
A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).
A cancer of the bone that usually affects the large bones of the arm or leg. It occurs most commonly in young people and affects more males than females.

Bone Osteosarcoma (Code C53707)
A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.

Question #3:
Should adult extraosseous osteosarcoma (DOID:7827) be a child of osteosarcoma given that osteosarcoma is defined as being located in the bone and extraosseous osteosarcoma is defined as being in the soft tissue and producing bone?

-- NCI includes two parents for extraosseous osteosarcoma
Adult Soft Tissue Sarcoma
and
Extraskeletal Osteosarcoma

--> based on the definition, I am moving it to be a child of: extraosseous osteosarcoma
which has been a child of : 'connective tissue cancer'
-- but based on it's NCI definition, I am moving to be an asserted child of 'osteosarcoma'

Question #4:
Also localized osteosarcoma is lacking a definition. How is this different from osteosarcoma generally?

-- I have added the NCI definition.

@lschriml
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The inferred children still need to be reviewed.

@lschriml lschriml removed their assignment Feb 5, 2024
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