MCID: BRS056
MIFTS: 44

Breast Metaplastic Carcinoma

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Breast Metaplastic Carcinoma

MalaCards integrated aliases for Breast Metaplastic Carcinoma:

Name: Breast Metaplastic Carcinoma 12 15
Metaplastic Carcinoma of the Breast 12 53 59
Metaplastic Breast Carcinoma 17 72
Metaplastic Carcinoma of Breast 12
Metaplastic Breast Cancer 53

Classifications:



External Ids:

Disease Ontology 12 DOID:4680
NCIt 50 C5164
UMLS via Orphanet 73 C1334708
Orphanet 59 ORPHA213531
UMLS 72 C1334708

Summaries for Breast Metaplastic Carcinoma

NIH Rare Diseases : 53 Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps. Treatment of metaplastic carcinoma of the breast is similar to that of invasive ductal cancer.

MalaCards based summary : Breast Metaplastic Carcinoma, also known as metaplastic carcinoma of the breast, is related to breast squamous cell carcinoma and carcinosarcoma, and has symptoms including pain An important gene associated with Breast Metaplastic Carcinoma is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Signaling by ERBB4 and Cytoskeleton remodeling Neurofilaments. The drugs nivolumab and Ipilimumab have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and bone, and related phenotypes are behavior/neurological and craniofacial

Disease Ontology : 12 A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types.

Related Diseases for Breast Metaplastic Carcinoma

Diseases related to Breast Metaplastic Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 breast squamous cell carcinoma 32.0 KRT5 KRT14 ERBB2
2 carcinosarcoma 30.7 PGR ERBB2
3 inflammatory breast carcinoma 30.4 PGR ERBB2
4 tubular adenocarcinoma 30.3 PGR ERBB2
5 pleomorphic adenoma 30.3 KRT14 ERBB2
6 female breast cancer 30.2 PGR ERBB2
7 skin benign neoplasm 30.2 KRT5 KRT14
8 breast fibroadenoma 29.7 PGR KRT14 ERBB2
9 spindle cell carcinoma 29.6 PGR KRT5 KRT14
10 papilloma 29.2 KRT5 KRT14
11 in situ carcinoma 29.1 PGR KRT5 KRT14 ERBB2
12 adenoid cystic carcinoma 29.1 PGR KRT5 KRT14 ERBB2
13 ductal carcinoma in situ 29.1 PGR KRT5 KRT14 ERBB2
14 breast mucoepidermoid carcinoma 11.5
15 adenosquamous breast carcinoma 11.5
16 mixed epithelial/mesenchymal metaplastic breast carcinoma 11.5
17 breast cystic hypersecretory carcinoma 10.4 KRT5 ERBB2
18 rare tumor 10.4
19 breast apocrine carcinoma 10.3 PGR ERBB2
20 scirrhous adenocarcinoma 10.3 PGR ERBB2
21 glassy cell carcinoma of the cervix 10.3 PGR ERBB2
22 intracystic papillary adenoma 10.3 PGR ERBB2
23 hidradenocarcinoma 10.3 KRT5 ERBB2
24 breast scirrhous carcinoma 10.3 PGR ERBB2
25 breast medullary carcinoma 10.3 PGR ERBB2
26 progesterone-receptor negative breast cancer 10.3 PGR ERBB2
27 progesterone-receptor positive breast cancer 10.3 PGR ERBB2
28 breast adenoid cystic carcinoma 10.3 PGR ERBB2
29 uterine body mixed cancer 10.3 PGR ERBB2
30 microglandular adenosis 10.3 PGR ERBB2
31 benign breast adenomyoepithelioma 10.3 KRT5 KRT14
32 breast adenomyoepithelioma 10.3 KRT5 KRT14
33 lichen planopilaris 10.3 KRT5 KRT14
34 osteogenic sarcoma 10.3
35 adenosquamous carcinoma 10.3
36 luminal breast carcinoma 10.3 PGR ERBB2
37 uterine corpus cancer 10.3 PGR ERBB2
38 epidermolysis bullosa simplex, autosomal recessive 1 10.3 KRT5 KRT14
39 epidermolysis bullosa 10.3 KRT5 KRT14
40 epidermolysis bullosa simplex 10.3 KRT5 KRT14
41 rare malignant breast tumor 10.2
42 large cell acanthoma 10.2 KRT5 KRT14
43 mixed cell type cancer 10.2 PGR ERBB2
44 apocrine sweat gland neoplasm 10.2 KRT5 KRT14
45 epidermolysis bullosa simplex, localized 10.2 KRT5 KRT14
46 epidermolysis bullosa simplex, generalized 10.2 KRT5 KRT14
47 primary peritoneal carcinoma 10.2 PGR ERBB2
48 bilateral breast cancer 10.2 PGR ERBB2
49 epidermolysis bullosa simplex with mottled pigmentation 10.2 KRT5 KRT14
50 odontoma 10.2 KRT5 KRT14

Graphical network of the top 20 diseases related to Breast Metaplastic Carcinoma:



Diseases related to Breast Metaplastic Carcinoma

Symptoms & Phenotypes for Breast Metaplastic Carcinoma

UMLS symptoms related to Breast Metaplastic Carcinoma:


pain

MGI Mouse Phenotypes related to Breast Metaplastic Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ERBB2 FEZF1 FEZF2 KRT5 PGR
2 craniofacial MP:0005382 9.55 ERBB2 FEZF1 FEZF2 KRT14 KRT5
3 mortality/aging MP:0010768 9.43 ERBB2 FEZF1 FEZF2 KRT14 KRT5 PGR
4 respiratory system MP:0005388 8.92 ERBB2 FEZF1 FEZF2 KRT14

Drugs & Therapeutics for Breast Metaplastic Carcinoma

Drugs for Breast Metaplastic Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
nivolumab Approved Phase 2 946414-94-4
2
Ipilimumab Approved Phase 2 477202-00-9
3 Antibodies Phase 2
4 Antineoplastic Agents, Immunological Phase 2
5 Immunoglobulins Phase 2
6 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2

Search NIH Clinical Center for Breast Metaplastic Carcinoma

Genetic Tests for Breast Metaplastic Carcinoma

Anatomical Context for Breast Metaplastic Carcinoma

MalaCards organs/tissues related to Breast Metaplastic Carcinoma:

41
Breast, Skin, Bone, Lung, Colon, Lymph Node, T Cells

Publications for Breast Metaplastic Carcinoma

Articles related to Breast Metaplastic Carcinoma:

(show top 50) (show all 139)
# Title Authors PMID Year
1
PI3K inhibitor provides durable response in metastatic metaplastic carcinoma of the breast: A hidden gem in the BELLE-4 study. 38
30577988 2019
2
Fibrillin-1, a novel TGF-beta-induced factor, is preferentially expressed in metaplastic carcinoma with spindle sarcomatous metaplasia. 38
31010590 2019
3
Metaplastic carcinoma of the breast: Prognosis and response to systemic treatment in metastatic disease. 38
30925636 2019
4
Metaplastic carcinoma of the breast: A diagnostic challenge on fine needle aspiration cytology. 38
30043535 2019
5
Granulocyte-colony-stimulating factor-producing metaplastic carcinoma of the breast with significant elevation of serum interleukin-17 and vascular endothelial growth factor levels. 38
31149526 2018
6
A Soft Microenvironment Protects from Failure of Midbody Abscission and Multinucleation Downstream of the EMT-Promoting Transcription Factor Snail. 38
29483094 2018
7
Imaging Findings of Metaplastic Carcinoma of the Breast with Pathologic Correlation. 38
30039058 2018
8
Clinicopathological features of metaplastic breast carcinoma. 38
29558027 2018
9
Rare variant of metaplastic carcinoma of the breast: a case report and review of the literature. 38
29463294 2018
10
Metaplastic carcinoma of the breast with mesenchymal differentiation (carcinosarcoma). A unique presentation of an aggressive malignancy and literature review. 38
29504519 2018
11
Metaplastic breast carcinoma: Analysis of 31 cases from a single institute. 38
28669452 2017
12
Metaplastic Carcinoma of the Breast Is More Aggressive Than Triple-negative Breast Cancer: A Study From a Single Institution and Review of Literature. 38
28529029 2017
13
Clinicopathological characteristics and prognosis of metaplastic carcinoma of the breast. 38
28781640 2017
14
Primitive squamous cell carcinoma of the breast (SCCB): case report of an uncommon variant of metaplastic carcinoma. 38
29205144 2017
15
Metaplastic carcinoma of the breast: Imaging and pathological features. 38
27895758 2016
16
[Metaplastic carcinoma of the breast: imaging features and clinicopathological characteristics]. 38
27784462 2016
17
Imaging overview of metaplastic carcinomas of the breast: a large study of 71 cases. 38
27245135 2016
18
Metaplastic carcinoma of the breast with widespread telangiectatic form of osteosarcomatous differentiation. 38
26645580 2016
19
[Metaplastic carcinoma of the breast and the impact of the p63 and cytokeratin 5/6: experience of 40 patients]. 38
27424438 2016
20
Pregnancy-like hyperplasia and cystic hypersecretory changes adjacent to metaplastic carcinoma of the breast. 38
26960660 2016
21
Four Synchronous Primary Malignancies of the Breast, Lung, Colon and Esophagus. 38
26504043 2015
22
[A Case of a Breast Metaplastic Carcinoma with a Giant Cyst]. 38
26805168 2015
23
CD99 correlates with low cyclin D1, high topoisomerase 2 status and triple negative molecular phenotype but is prognostically irrelevant in breast carcinoma. 38
26619106 2015
24
Aggressive Metaplastic Carcinoma of the Breast with Osteoclastic Giant Cells. 38
26629304 2015
25
Metaplastic carcinoma of the breast. 38
26030252 2015
26
Cancer stem cell and epithelial-mesenchymal transition markers predict worse outcome in metaplastic carcinoma of the breast. 38
25677743 2015
27
Metaplastic breast cancer: a comparison between the most common histologies with poor immunohistochemistry factors. 38
25881163 2015
28
A case of matrix-producing metaplastic carcinoma of the breast exhibiting similarities to pleomorphic adenoma on fine-needle aspiration cytology. 38
26823890 2015
29
Prognostic factors in metaplastic carcinoma of the breast: a multi-institutional study. 38
25422911 2015
30
Metaplastic breast cancer with chondroid differentiation. 38
26333865 2015
31
[Chondrosarcomatous metaplastic carcinoma of the breast, a rare tumor]. 38
22595382 2014
32
Fibromatosis-like metaplastic carcinoma of the breast has a claudin-low immunohistochemical phenotype. 38
24903673 2014
33
Metaplastic carcinoma of the breast: an immunohistochemical study. 38
25030022 2014
34
Metaplastic carcinoma of the breast: A case report with review of literature. 38
25494151 2014
35
Phenotypic plasticity in normal breast derived epithelial cells. 38
24915897 2014
36
Metaplastic carcinoma of the breast: Treatment, results and prognostic factors based on international literature. 38
24195912 2014
37
Metaplastic carcinoma of the breast with chondroid differentiation (matrix-producing carcinoma): study of the diagnostic cost-effectiveness of fine-needle aspiration biopsy and needle core biopsy. 38
24246799 2014
38
Metaplastic carcinoma of the breast with rhabdo-myosarcomatous element. 38
25006301 2014
39
Metaplastic carcinoma of the breast: A rare carcinoma with chondroid metaplasia. 38
25931882 2014
40
Primary chondroblastic osteosarcoma of the breast. 38
26033758 2014
41
Metaplastic Breast Carcinoma in the Lungs: A Case Report. 38
29147366 2013
42
The prognostic significance of metaplastic carcinoma of the breast (MCB)--a case controlled comparison study with infiltrating ductal carcinoma. 38
23787124 2013
43
Metaplastic carcinoma of the breast with transformation from adenosquamous carcinoma to osteosarcomatoid and spindle cell morphology. 38
24137400 2013
44
[Clinical characteristics and survival analysis of 22 cases of pure epithelial breast metaplastic carcinoma]. 38
24257306 2013
45
Molecular alterations in metaplastic breast carcinoma. 38
23372178 2013
46
Matrix-producing carcinoma of the breast: a case report. 38
23741218 2013
47
Sonographic presentations of metaplastic breast cancers. 38
23158037 2012
48
Metaplastic carcinoma of the right breast and simultaneous giant ovarian teratoma: a case report. 38
22854062 2012
49
Primary chondrosarcoma of male breast: a rare case. 38
24082599 2012
50
Metaplastic carcinoma of the breast with dominant squamous and sebaceous differentiation in the primary tumor and osteochondroid metaplasia in a distant metastasis: report of a case with review of sebaceous differentiation in breast tumors. 38
21865268 2012

Variations for Breast Metaplastic Carcinoma

Cosmic variations for Breast Metaplastic Carcinoma:

9 (show top 50) (show all 54)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6956502 ZFHX3 breast,NS,carcinoma,metaplastic carcinoma c.4282G>A p.A1428T 16:72798400-72798400 30
2 COSM10648 TP53 breast,NS,carcinoma,metaplastic carcinoma c.524G>A p.R175H 17:7675088-7675088 30
3 COSM10645 TP53 breast,NS,carcinoma,metaplastic carcinoma c.527G>T p.C176F 17:7675085-7675085 30
4 COSM10726 TP53 breast,NS,carcinoma,metaplastic carcinoma c.856G>A p.E286K 17:7673764-7673764 30
5 COSM44268 TP53 breast,NS,carcinoma,metaplastic carcinoma c.559+1G>T p.? 17:7675052-7675052 30
6 COSM10662 TP53 breast,NS,carcinoma,metaplastic carcinoma c.743G>A p.R248Q 17:7674220-7674220 30
7 COSM11582 TP53 breast,NS,carcinoma,metaplastic carcinoma c.395A>G p.K132R 17:7675217-7675217 30
8 COSM6918851 RBM10 breast,NS,carcinoma,metaplastic carcinoma c.688C>G p.R230G 23:47179127-47179127 30
9 COSM5991648 RB1 breast,NS,carcinoma,metaplastic carcinoma c.1421+1G>C p.? 13:48380085-48380085 30
10 COSM5991640 RB1 breast,NS,carcinoma,metaplastic carcinoma c.607+2T>A p.? 13:48349025-48349025 30
11 COSM1968237 PTEN breast,NS,carcinoma,metaplastic carcinoma c.402G>T p.M134I 10:87933161-87933161 30
12 COSM775 PIK3CA breast,NS,carcinoma,metaplastic carcinoma c.3140A>G p.H1047R 3:179234297-179234297 30
13 COSM763 PIK3CA breast,NS,carcinoma,metaplastic carcinoma c.1633G>A p.E545K 3:179218303-179218303 30
14 COSM6966234 NF1 breast,NS,carcinoma,metaplastic carcinoma c.634G>C p.V212L 17:31181469-31181469 30
15 COSM6916545 NF1 breast,NS,carcinoma,metaplastic carcinoma c.3082G>T p.D1028Y 17:31230351-31230351 30
16 COSM6922156 IRS1 breast,NS,carcinoma,metaplastic carcinoma c.3564C>A p.F1188L 2:226795175-226795175 30
17 COSM489 HRAS breast,NS,carcinoma,metaplastic carcinoma c.38G>T p.G13V 11:534285-534285 30
18 COSM6918850 FLT4 breast,NS,carcinoma,metaplastic carcinoma c.2890G>T p.V964L 5:180618881-180618881 30
19 COSM6918844 FBXW7 breast,NS,carcinoma,metaplastic carcinoma c.1418+2T>G p.? 4:152328206-152328206 30
20 COSM5677 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.98C>G p.S33C 3:41224610-41224610 30
21 COSM5732 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.125C>G p.T42R 3:41224637-41224637 30
22 COSM27311 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.97T>A p.S33T 3:41224609-41224609 30
23 COSM5666 CTNNB1 breast,NS,carcinoma,metaplastic carcinoma c.110C>A p.S37Y 3:41224622-41224622 30
24 COSM12475 CDKN2A breast,NS,carcinoma,metaplastic carcinoma c.238C>T p.R80* 9:21971121-21971121 30
25 COSM12736 CDKN2A breast,NS,carcinoma,metaplastic carcinoma c.104G>T p.G35V 9:21974724-21974724 30
26 COSM19476 APC breast,NS,carcinoma,metaplastic carcinoma c.4616C>G p.S1539* 5:112840210-112840210 30
27 COSM18942 APC breast,NS,carcinoma,metaplastic carcinoma c.3928A>T p.K1310* 5:112839522-112839522 30
28 COSM6985595 breast,NS,carcinoma,metaplastic carcinoma c.104G>T p.G35V 9:21974724-21974724 30
29 COSM308310 breast,NS,carcinoma,metaplastic carcinoma c.395A>G p.K132R 17:7675217-7675217 30
30 COSM308311 breast,NS,carcinoma,metaplastic carcinoma c.395A>G p.K132R 17:7675217-7675217 30
31 COSM3388223 breast,NS,carcinoma,metaplastic carcinoma c.395A>G p.K132R 17:7675217-7675217 30
32 COSM99021 breast,NS,carcinoma,metaplastic carcinoma c.464G>A p.R155Q 17:7674220-7674220 30
33 COSM94986 breast,NS,carcinoma,metaplastic carcinoma c.3140A>G p.H1047R 3:179234297-179234297 30
34 COSM99020 breast,NS,carcinoma,metaplastic carcinoma c.743G>A p.R248Q 17:7674220-7674220 30
35 COSM6985594 breast,NS,carcinoma,metaplastic carcinoma c.104G>T p.G35V 9:21974724-21974724 30
36 COSM99023 breast,NS,carcinoma,metaplastic carcinoma c.128G>A p.R43H 17:7675088-7675088 30
37 COSM99602 breast,NS,carcinoma,metaplastic carcinoma c.743G>A p.R248Q 17:7674220-7674220 30
38 COSM1640830 breast,NS,carcinoma,metaplastic carcinoma c.743G>A p.R248Q 17:7674220-7674220 30
39 COSM6918843 breast,NS,carcinoma,metaplastic carcinoma c.1418+2T>G p.? 4:152328206-152328206 30
40 COSM99024 breast,NS,carcinoma,metaplastic carcinoma c.245G>A p.R82H 17:7675088-7675088 30
41 COSM6918849 breast,NS,carcinoma,metaplastic carcinoma c.2890G>T p.V964L 5:180618881-180618881 30
42 COSM6966233 breast,NS,carcinoma,metaplastic carcinoma c.634G>C p.V212L 17:31181469-31181469 30
43 COSM6918845 breast,NS,carcinoma,metaplastic carcinoma c.1178+2T>G p.? 4:152328206-152328206 30
44 COSM1646844 breast,NS,carcinoma,metaplastic carcinoma c.395A>G p.K132R 17:7675217-7675217 30
45 COSM6918847 breast,NS,carcinoma,metaplastic carcinoma c.890+2T>G p.? 4:152328206-152328206 30
46 COSM6918848 breast,NS,carcinoma,metaplastic carcinoma c.701+2T>G p.? 4:152328206-152328206 30
47 COSM99914 breast,NS,carcinoma,metaplastic carcinoma c.524G>A p.R175H 17:7675088-7675088 30
48 COSM6918846 breast,NS,carcinoma,metaplastic carcinoma c.1064+2T>G p.? 4:152328206-152328206 30
49 COSM308312 breast,NS,carcinoma,metaplastic carcinoma c.116A>G p.K39R 17:7675217-7675217 30
50 COSM1640851 breast,NS,carcinoma,metaplastic carcinoma c.524G>A p.R175H 17:7675088-7675088 30

Expression for Breast Metaplastic Carcinoma

Search GEO for disease gene expression data for Breast Metaplastic Carcinoma.

Pathways for Breast Metaplastic Carcinoma

Pathways related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 PGR ERBB2
2
Show member pathways
10.99 KRT5 KRT14
3 10.54 KRT5 KRT14

GO Terms for Breast Metaplastic Carcinoma

Cellular components related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.43 PGR KRT5 KRT14 FEZF2 FEZF1 ERBB2
2 keratin filament GO:0045095 8.62 KRT5 KRT14

Biological processes related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.58 FEZF2 FEZF1 ERBB2
2 cornification GO:0070268 9.48 KRT5 KRT14
3 epidermis development GO:0008544 9.46 KRT5 KRT14
4 positive regulation of neuron differentiation GO:0045666 9.43 FEZF2 FEZF1
5 forebrain development GO:0030900 9.37 FEZF2 FEZF1
6 regulation of neurogenesis GO:0050767 9.32 FEZF2 FEZF1
7 telencephalon development GO:0021537 9.26 FEZF2 FEZF1
8 hemidesmosome assembly GO:0031581 9.16 KRT5 KRT14
9 cell dedifferentiation GO:0043697 8.96 FEZF2 FEZF1
10 forebrain anterior/posterior pattern specification GO:0021797 8.62 FEZF2 FEZF1

Molecular functions related to Breast Metaplastic Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.96 KRT5 KRT14
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.8 PGR FEZF2 FEZF1

Sources for Breast Metaplastic Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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