Review 'mediastinal neurilemmoma' (DOID:6175) & children

[allenbaron]

'mediastinal neurilemmoma' (DOID:6175), which is a schwann cell tumor, currently has the children:

• 'mediastinal granular cell myoblastoma' (DOID:5046)
• 'mediastinum leiomyoma' (DOID:5123)

Both of these tumors are derived from different types of cells and need to be re-classified.

[allenbaron]

'mediastinum leiomyoma' (DOID:5123) is an inferred child due to the EQ axiom:'benign neoplasm' and ('disease has location' some mediastinum). That axiom is not specific enough, it needs to be defined by cell type.

The grandparent of 'mediastinal neurilemmoma', neurilemmoma (DOID:3192; aka schwannoma), is the highest level benign tumor of this cell type and has the cell type textual definition: "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells." It lacks an equivalence axiom.

It makes the most sense to add an EQ cell type axiom to neurilemmoma (DOID:3192) and to redefine 'mediastinal neurilemmoma' based on this relationship.

'mediastinal neurilemmoma' lacks a textual definition and needs to be reviewed more generally for updates.

[allenbaron]

May want to consider renaming neurilemmoma(s) to schwannoma(s). Both are used but schwannoma is used about 1-2 times more often.

[allenbaron]

Just noticed 3 diseases that might be redundant and in need of deprecation:

1. 'benign neurilemmoma' (DOID:955)
   • Child of neurilemmoma which is already defined as benign with no text or logical definition.
   • Has 1 xref to UMLS 'benign schwannoma' which is linked only to MTH/MDR; this is probably also a duplicate in UMLS and needs to be merged. We can drop this xref completely since the xref on neurilemmoma is correct and relevant.
   • --> DEPRECATE with replace by pointing to DOID:3192.
2. 'benign mediastinal neurilemmoma' (DOID:7922)
   • Child of 'benign neurilemmoma' that is equivalent to 'mediastinal neurilemmoma'
   • Has 1 xref to NCI retired concept that was replaced by the NCI xref on 'mediastinal neurilemmoma'; I guess it was a duplicate at NCI.
   • --> DEPRECATE with replace by pointing to DOID:6175.
3. 'benign mediastinal psammomatous neurilemmoma' (DOID:7921)
   • Child of 'benign mediastinal neurilemmoma' but with no apparent equivalent in the DO.
   • NCI xref 'Mediastinal Psammomatous Schwannoma' is still active and a child of 'mediastinal neurilemmoma'.
   • This disease is highly specific, with both a location and a specific defining feature (psammoma bodies, according to NCI). However, I could not find this disease name anywhere in PubMed or EuropePMC, which makes me doubt that it is an actual disease. Maybe this was created from some automated update?
   • For the time being I will add the definition from NCI and reclassify this under 'mediastinal neurilemmoma' but it should probably be deprecated.

[allenbaron]

mediastinal neurilemmomas are common enough to remain in the DO... still not sure about DOID:7921.

Also still need to review and move 'mediastinal granular cell myoblastoma' (DOID:5046) which is currently an asserted child of 'mediastinal neurilemmoma'.