Evidence map›Paper›PMID 37650999›Full record

ArticleBreast cancer research and treatment2023

Genetic analysis of low-grade adenosquamous carcinoma of the breast progressing to high-grade metaplastic carcinoma.

Kae Kawachi, Xiaoyan Tang, Rika Kasajima, Takashi Yamanaka, Eigo Shimizu, Kotoe Katayama, Rui Yamaguchi, Kazuaki Yokoyama, Kiyoshi Yamaguchi, Yoichi Furukawa and 8 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Breast cancer research and treatment, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors at 7 institutions in 1 country.

Kae Kawachi *Department of Pathology, Kanagawa Cancer Center, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0003-1712-3181
Xiaoyan Tang *Department of Pathology, Nihon University Hospital, 1-6 Kandasurugadai, Chiyoda-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0002-4591-5883
Rika Kasajima *Molecular Pathology and Genetics Division, Kanagawa Cancer Center Research Institute, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0001-6389-6594
Takashi YamanakaDepartment of Breast and Endocrine Surgery, Kanagawa Cancer Center, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.
Eigo ShimizuDivision of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0002-2486-2321
Kotoe KatayamaDivision of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0002-3966-1231
Rui YamaguchiDivision of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1224-227X
Kazuaki YokoyamaDepartment of Hematology/Oncology, Research Hospital, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0002-2556-3833
Kiyoshi YamaguchiDivision of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2113-4369
Yoichi FurukawaDivision of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0003-0462-8631
Satoru MiyanoDivision of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0002-1753-6616
Seiya ImotoDivision of Health Medical Intelligence, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, Japan.ORCID http://orcid.org/0000-0002-2989-308X
Emi YoshiokaDepartment of Pathology, Kanagawa Cancer Center, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.
Kota WashimiDepartment of Pathology, Kanagawa Cancer Center, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0001-6353-776X
Yoichiro OkuboDepartment of Pathology, Kanagawa Cancer Center, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0002-7079-4454
Shinya SatoMolecular Pathology and Genetics Division, Kanagawa Cancer Center Research Institute, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0002-2155-2379
Tomoyuki YokoseDepartment of Pathology, Kanagawa Cancer Center, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan.ORCID http://orcid.org/0000-0002-9403-9592
Yohei MiyagiMolecular Pathology and Genetics Division, Kanagawa Cancer Center Research Institute, 2-3-2 Nakao, Aasahi-ku, Yokohama, Japan. miyagi@gancen.asahi.yokohama.jp.ORCID http://orcid.org/0000-0002-0056-7010
Kanagawa Prefectural Hospital Organization · JPThe University of Tokyo · JPKanagawa Cancer CenterAichi Cancer Center · JPJikei University School of Medicine · JPSurugadai Nihon University Hospital · JPTokyo Medical and Dental University · JP

Funding

The Ministry of Education, Culture, Sports, Science and Technology JP16H06277The Ministry of Education, Culture, Sports, Science and Technology JP22H04923 (CoBiA)
6 · The paper itself

Abstract

purposeLow-grade adenosquamous carcinoma (LGASC) is a rare type of metaplastic carcinoma of the breast (MBC) with an indolent clinical course. A few LGASC cases with high-grade transformation have been reported; however, the genetics underlying malignant progression of LGASC remain unclear.

methodsWe performed whole-genome sequencing analysis on five MBCs from four patients, including one case with matching primary LGASC and a lymph node metastatic tumor consisting of high-grade MBC with a predominant metaplastic squamous cell carcinoma component (MSC) that progressed from LGASC and three cases of independent de novo MSC.

resultsUnlike de novo MSC, LGASC and its associated MSC showed no TP53 mutation and tended to contain fewer structural variants than de novo MSC. Both LGASC and its associated MSC harbored the common GNAS c.C2530T:p.Arg844Cys mutation, which was more frequently detected in the cancer cell fraction of MSC. MSC associated with LGASC showed additional pathogenic deletions of multiple tumor-suppressor genes, such as KMT2D and BTG1. Copy number analysis revealed potential 18q loss of heterozygosity in both LGASC and associated MSC. The frequency of SMAD4::DCC fusion due to deletions increased with progression to MSC; however, chimeric proteins were not detected. SMAD4 protein expression was already decreased at the LGASC stage due to unknown mechanisms.

conclusionNot only LGASC but also its associated high-grade MBC may be genetically different from de novo high-grade MBC. Progression from LGASC to high-grade MBC may involve the concentration of driver mutations caused by clonal selection and inactivation of tumor-suppressor genes.

Indexed as

Breast NeoplasmsCarcinomaCarcinoma, AdenosquamousBreastFemaleHumansBreast cancerHigh-grade progressionLow-grade adenosquamous carcinomaMetaplastic carcinomaWhole-genome sequencing

Identifiers

PMID37650999
PMCPMC10564816
OpenAlexW4386305652

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.