Terms for Cancer_Slim File

[lsheta]

Hello! CIViC has identified a series of terms that are not in the cancer slim file that would benefit CIViC's use of DO.

Ovary Serous Adenocarcinoma: 5744 Papillary Follicular Thyroid adenocarcinoma: 3968 B-cell Adult Acute Lymphocytic Leukemia: 0060592 Endometrioid Ovary Carcinoma: 5828 Hemangiopericytoma: 264 Sertoli-Leydig Cell Tumor: 2997

[lschriml]

Hello Lana, Added !! These updates will be in our February data release.

Cheers, Lynn

On Mon, Feb 15, 2021 at 12:59 PM Lana Sheta notifications@github.com wrote:

Hello! CIViC has identified a series of terms that are not in the cancer slim file that would benefit CIViC's use of DO.

Ovary Serous Adenocarcinoma: 5744 Papillary Follicular Thyroid adenocarcinoma: 3968 B-cell Adult Acute Lymphocytic Leukemia: 0060592 Endometrioid Ovary Carcinoma: 5828 Hemangiopericytoma: 264 Sertoli-Leydig Cell Tumor: 2997

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-- Lynn M. Schriml, Ph.D. Associate Professor

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[lsheta]

Thank you!

I have a few additional diseases that are in the DO but not in cancer_slim: Mammary analogue secretory carcinoma (0080808). transient myeloproliferative syndrome (0060888) mixed phenotype acute leukemia (9953)

As well as some that aren't in the DO, but possibly could be. I don't think any of the following belong in the cancer_slim:

sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) NCIT:  C36075

Lipofibromatosis-like Neural Tumor (LPF-NT): described in attached article. LPF-NT.pdf

Rapidly Involuting Congenical Hemangioma: NCIT C172207

Let me know if I can clarify any of these. Thanks again. Best, Lana

[lschriml]

Thank you Lana !!

Added to DO cancer slim: Mammary analogue secretory carcinoma (0080808). transient myeloproliferative syndrome (0060888) mixed phenotype acute leukemia (9953)

For: sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) NCIT: C36075 --> this is: DOID:0111278 histiocytosis-lymphadenopathy plus syndrome --> I've added the NCIT ID A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.

Added: new DO terms:

Lipofibromatosis-like Neural Tumor DOID:0080894 Rapidly Involuting Congenical Hemangioma DOID:0080895

Cheers, Lynn

[lsheta]

Thank you! The last one should be Rapidly Involuting Congenital Hemangioma, not Congenical. Sorry for the typo!

[lschriml]

done, add to the DO cancer slim.

Cheers, Lynn

On Tue, Feb 16, 2021 at 11:51 AM Lana Sheta notifications@github.com wrote:

Thank you! The last one should be Rapidly Involuting Congenital Hemangioma, not Congenical. Sorry for the typo!

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-- Lynn M. Schriml, Ph.D. Associate Professor

Institute for Genome Sciences University of Maryland School of Medicine Department of Epidemiology and Public Health 670 W. Baltimore St., HSFIII, Room 3061 Baltimore, MD 21201 P: 410-706-6776 | F: 410-706-6756 lschriml@som.umaryland.edu

[lsheta]

I don't think that one needs to be in the cancer_slim

[lsheta]

Last ones! Just finished double checking terms in CIViC.

Add to Cancer_Slim: Papillary Adenocarcinoma (DOID:3112)

Proposed to add to DO and cancer_slim: Pericytoma With t(7;12) Important sources describing the disease: PCT.pdf PCT2.pdf

Thank you again, Lynn !

[jsaliba10]

I found one more to add to DO and to the cancer slim as two subtypes were combined according to the 2016 WHO classifications:

Solitary fibrous tumor/hemangiopericytoma Source: SFT-HPC.pdf

Thank you, Lynn.

[lschriml]

removed from slim: Rapidly Involuting Congenital Hemangioma

added to slim: Papillary Adenocarcinoma

added: Pericytoma With t(7;12) & added to slim

added: Solitary fibrous tumor/hemangiopericytoma & added to slim

Cheers, Lynn