# US 10,119,169 B2 · Methods to diagnose and treat mullerian adenosarcoma

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- Number: US 10,119,169 B2
- Document ID: US10119169B2
- Status: Granted
- Kind: B2
- Application number: 14/685,292
- Filed: 2015-04-13
- Published: 2015-11-12
- Granted: 2018-11-06
- Earliest claimed: 2014-04-11
- Assignees: The Brigham and Women's Hospital, Inc.
- Applicants: The Brigham and Women's Hospital, Inc.
- Inventors: Brooke Howitt; Bradley Quade; Marisa Nucci; Lynette Sholl
- Web page: https://patentgrep.com/patent/US10119169B2

## CPC

- C12Q 1/6886: for cancer (immunoassay for cancer G01N33/575)
- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2600/106: Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES

## Abstract

Methods for diagnosing and treating Müllerian Adenosarcoma that include detecting the presence of one or more of a mutation in an ATRX gene, and/or a Copy Number Variation (CNV) in a MYBL1, MDM2, HMGA2, and/or CDK4 gene.

## Claims

### Claim 1

A method of treating a subject who has Müllerian Adenosarcoma (MA), the method comprising:
obtaining a sample comprising cells from the MA in a subject;
performing an assay to determine the copy number of each of a MYBL1, MDM2, and CDK4 gene;
comparing the copy number of the MYBL1, MDM2, and CDK4 genes to reference copy number that represents a copy number in a normal cell;
detecting a copy number gain in a MYBL1, MDM2, or CDK4 gene as compared to the reference copy number; and
administering to a subject who has a copy number gain or loss in a MYBL1 or CDK4 gene, or a copy number gain in a MDM2 gene as compared to the reference copy number a treatment comprising one or more of radical surgical resection; administration of radiotherapy; or administration of chemotherapy.

### Claim 2 (depends on 1)

The method of claim 1, wherein performing an assay to determine the copy number of a gene comprises using a method selected from the group consisting of fluorescent in-situ hybridization (FISH); gene chip hybridization; multiplexed gene expression analysis; hybridization based digital barcode quantification assays; and lysate based hybridization assays utilizing branched DNA signal amplification.

### Claim 3

A method of treating a subject who has Mullerian Adenosarcoma (MA), the method comprising:
obtaining a sample comprising cells from the MA in the subject;
performing an assay to determine copy number of a MYBL1 gene;
comparing the copy number of the MYBL1 gene to a reference copy number that represents a MYBL1 copy number in a normal cell;
detecting a copy number gain in MYBL1 gene as compared to the reference copy number; and
administering to a subject who has a copy number gain in a MYBL1 gene as compared to the reference copy number a treatment comprising an MYBL1 inhibitor, wherein the MYBL1 inhibitor is mexicanin I.

### Claim 4 (depends on 1)

The method of claim 1, wherein the mass is a uterine or cervical mass, and the radical surgical resection is radical hysterectomy or modified radical hysterectomy.

### Claim 5 (depends on 2)

The method of claim 2, wherein determining the copy number of the MYBL1 a gene comprises using a method selected from the group consisting of fluorescent in-situ hybridization (FISH); gene chip hybridization; multiplexed gene expression analysis; hybridization based digital barcode quantification assays; and lysate based hybridization assays utilizing branched DNA signal amplification.