# US 2026/0065482 A1 · Medical information processing apparatus, storage medium, and method

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- Number: US 2026/0065482 A1
- Document ID: US20260065482A1
- Status: Published application
- Kind: A1
- Application number: 18/817,364
- Filed: 2024-08-28
- Published: 2026-03-05
- Earliest claimed: 2024-08-28
- Assignees: The Johns Hopkins University; Canon Medical Systems Corporation
- Applicants: The Johns Hopkins University; Canon Medical Systems Corporation
- Inventors: Kristin REDMOND; Junghoon LEE; Chetan BETTEGOWDA; Asateru KIMURA; Kazumasa NORO
- Web page: https://patentgrep.com/patent/US20260065482A1

## CPC

- G06T 7/0016: {involving temporal comparison}
- G06V 20/698: {Matching; Classification}
- G16B 20/00: ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B 20/20: Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
- G16H 50/20: for computer-aided diagnosis, e.g. based on medical expert systems
- G06T 2207/30024: Cell structures in vitro; Tissue sections in vitro
- G06T 2207/30096: Tumor; Lesion
- G06V 2201/03: Recognition of patterns in medical or anatomical images
- G06T: IMAGE DATA PROCESSING OR GENERATION, IN GENERAL
- G06V: IMAGE OR VIDEO RECOGNITION OR UNDERSTANDING
- G16B: BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16H: HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA

## Abstract

A medical information processing apparatus according to an embodiment includes processing circuitry. The processing circuitry is configured to obtain data related to circulating tumor deoxyribonucleic acid (ctDNA) of a subject. The processing circuitry is configured to specify a gene on the basis of information about a false negative in a result of estimating a genetic mutation in a tumor tissue of the subject based on the data related to the ctDNA. With respect to the gene specified on the basis of the information about the false negative, the processing circuitry is configured to calculate a result of estimating the genetic mutation in the tumor tissue, on the basis of a medical image of the tumor tissue of the subject.

## Claims

### Claim 1

A medical information processing apparatus comprising processing circuitry configured to
obtain data related to circulating tumor deoxyribonucleic acid (ctDNA) of a subject;
specify a gene on a basis of information about a false negative in a result of estimating a genetic mutation in a tumor tissue of the subject based on the data related to the ctDNA; and
calculate, with respect to the gene specified on the basis of the information about the false negative, a result of estimating the genetic mutation in the tumor tissue, on a basis of a medical image of the tumor tissue of the subject.

### Claim 2 (depends on 1)

The medical information processing apparatus according to claim 1, wherein
the processing circuitry is configured to specify a first gene having a high possibility of exhibiting a false negative in the result of estimating the genetic mutation based on the data related to the ctDNA, and
with respect to the first gene, the processing circuitry is configured to calculate a mutation score for estimating the genetic mutation on a basis of the medical image of the tumor tissue, whereas
with respect to a second gene other than the first gene, the processing circuitry is configured to calculate a mutation score for estimating the genetic mutation on a basis of the data related to the ctDNA.

### Claim 3 (depends on 2)

The medical information processing apparatus according to claim 2, wherein the processing circuitry is configured to judge the possibility of exhibiting the false negative in the result of estimating the genetic mutation, on a basis of mutant allele frequency (MAF) of each gene.

### Claim 4 (depends on 3)

The medical information processing apparatus according to claim 3, wherein the processing circuitry is configured to specify a gene having an MAF value smaller than a threshold value as the first gene having the high possibility of exhibiting the false negative.

### Claim 5 (depends on 1)

The medical information processing apparatus according to claim 1, wherein the processing circuitry is configured to calculate an image feature value in the medical image of the tumor tissue, as a result of estimating a mutation in the gene specified on the basis of the information about the false negative.

### Claim 6 (depends on 2)

The medical information processing apparatus according to claim 2, wherein the processing circuitry is configured to exercise control so that the mutation score based on the medical image and the mutation score based on the data related to the ctDNA are displayed in a distinguishable manner.

### Claim 7 (depends on 1)

The medical information processing apparatus according to claim 1, wherein, on the basis of results of estimating the genetic mutation in the tumor tissue before and after treatment performed on the tumor tissue of the subject, the processing circuitry is configured to judge an effect of the treatment on the tumor tissue.

### Claim 8 (depends on 1)

The medical information processing apparatus according to claim 1, wherein
the processing circuitry is further configured to classify genes into gene groups,
the processing circuitry is configured to specify a gene group having a high possibility of exhibiting a false negative in an estimation result regarding the genetic mutation estimated with respect to each of the gene groups, and
with respect to the specified gene group, the processing circuitry is configured to calculate the result of estimating the genetic mutation in the tumor tissue, on the basis of the medical image of the tumor tissue of the subject.

### Claim 9 (depends on 8)

The medical information processing apparatus according to claim 8, wherein the processing circuitry is configured to classify the genes into the gene groups in accordance with functions of the genes.

### Claim 10

A storage medium storing therein, in a non-transitory manner, a program that causes a computer to execute:
obtaining data related to circulating tumor deoxyribonucleic acid (ctDNA) of a subject;
specifying a gene on a basis of information about a false negative in a result of estimating a genetic mutation in a tumor tissue of the subject based on the data related to the ctDNA; and
calculating, with respect to the gene specified on the basis of the information about the false negative, a result of estimating the genetic mutation in the tumor tissue, on a basis of a medical image of the tumor tissue of the subject.

### Claim 11

A method comprising:
obtaining data related to circulating tumor deoxyribonucleic acid (ctDNA) of a subject;
specifying a gene on a basis of information about a false negative in a result of estimating a genetic mutation in a tumor tissue of the subject based on the data related to the ctDNA; and
calculating, with respect to the gene specified on the basis of the information about the false negative, a result of estimating the genetic mutation in the tumor tissue, on a basis of a medical image of the tumor tissue of the subject.