IP Library › Granted Patent US 12,371,750
Granted Patent B2
US 12,371,750 · App. 18/493,935 · Granted Jul 29, 2025

Genes and gene signatures for diagnosis and treatment of melanoma

Inventors: Michael Bryan Warf (Salt Lake City, UT); Benjamin Roa (Salt Lake City, UT); Alexander Gutin (Salt Lake City, UT); Darl Flake (Salt Lake City, UT)
Assignee: MYRIAD MYPATH, LLC
C12Q1/6886G16B20/00C12Q2600/158
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Quick Facts
Patent No.
US 12,371,750
App. No.
18/493,935
Granted
Jul 29, 2025
Kind
B2
Abstract

Panels of biomarkers, methods and systems are disclosed for determining gene expression, and diagnosing and treating melanoma.

Claims (21)

1. A method for diagnosing and treating melanoma in a patient, the method comprising:

a) obtaining a tissue sample from the patient and measuring in the sample from the patient mRNA expression levels of a panel of genes comprising a three gene combination consisting of:

PRAME;

S100-related gene comprising S100A9, S100A7, S100A8, S100A12, or PI3; and immune gene comprising CXCL9, CCL5, CXCL10, IRF1, PTPN22, PTPRC, LCP2, SELL or CD38, wherein mRNA expression levels are normalized to one or more house-keeping genes;

b) calculating a combined score by weighting the measured mRNA expression levels of each gene from the panel of genes with a predefined coefficient, and combining the weighted expression levels of each gene from the panel of genes to provide the combined score;

c) classifying the sample as a malignant melanoma when the combined score exceeding a reference value;

d) diagnosing the patient with the combined score exceeding a reference value as having a malignant melanoma; and

e) administering to the patient diagnosed as having the malignant melanoma one or more treatments selected from excising the malignant melanoma, excising the malignant melanoma and a border of normal skin, reexcising the site of the sample to remove additional tissue, reexcising additional tissue surrounding a biopsy site, removal of a lymph node, lymph node dissection, chemotherapy, radiation therapy, biological therapy, immunotherapy, and targeted therapy.

2. The method of claim 1 , wherein the immune gene is CD38 or IRF1.

3. The method of claim 1 , wherein the S100 related gene is S100A7.

4. The method of claim 1 , wherein the one or more housekeeping genes comprises at least one of CLTC, PPP2CA, MRFAP1, PSMA1, RPL13A, TXNL1, SLC25A3, RPS29, and RPL8.

5. The method of claim 1 , wherein measuring mRNA expression of the panel of genes comprises one or more of: microarray analysis, and quantitative PCR.

6. The method of claim 1 , wherein the combined score is generated using a linear model.

7. The method of claim 1 further comprising combining the combined score with a value of a clinical parameter.

8. The method of claim 7 , wherein the clinical parameter is one or more of clinical staging, family history, and dermatopathology results.

9. The method of claim 1 , wherein the tissue sample from the patient is a skin lesion, a malignant melanoma, a benign nevus, and/or a dysplastic nevus.

10. The method of claim 1 , wherein the sample is an FFPE sample, a fresh frozen sample, or contains predominantly melanoma suspect cells.

11. The method of claim 1 , wherein the expression of the panel of genes is measured by hybridization.

12. The method of claim 1 , wherein the combined score is recorded in a report.

13. The method of claim 1 , wherein the combined score is recorded in a report communicated to a medical provider of the patient.

14. The method of claim 13 , wherein the medical provider administers the one or more treatments to the patient.

Continuity (5)
Continuation 17325644 · May 20, 2021
Continuation 14205965 · Mar 12, 2014
Provisional Application 61889609 · Oct 11, 2013
Provisional Application 61793031 · Mar 15, 2013
Related Publication 20240200145A1 · Jun 20, 2024
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