PSA
MCID: SLV025
MIFTS: 38

Salivary Gland Adenoma, Pleomorphic (PSA)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Salivary Gland Adenoma, Pleomorphic

MalaCards integrated aliases for Salivary Gland Adenoma, Pleomorphic:

Name: Salivary Gland Adenoma, Pleomorphic 56 54
Salivary Gland Pleomorphic Adenoma 17 71
Adenomas, Salivary Gland Pleomorphic, Somatic 56
Benign Epithelial Tumor of Salivary Glands 58
Pleomorphic Adenoma of Salivary Gland 29
Adenomas, Salivary Gland Pleomorphic 13
Adenoma, Salivary Gland, Pleomorphic 39
Pleomorphic Salivary Gland Adenoma 58
Sgpa 56
Psa 56

Characteristics:

Orphanet epidemiological data:

58
benign epithelial tumor of salivary glands
Inheritance: Not applicable;
pleomorphic salivary gland adenoma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

56
Inheritance:
somatic mutation


HPO:

31
salivary gland adenoma, pleomorphic:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM 56 181030
ICD10 via Orphanet 33 D11.0 D11.7
MedGen 41 C1519176
UMLS 71 C1519176

Summaries for Salivary Gland Adenoma, Pleomorphic

MalaCards based summary : Salivary Gland Adenoma, Pleomorphic, also known as salivary gland pleomorphic adenoma, is related to pleomorphic adenoma and pleomorphic adenoma carcinoma. An important gene associated with Salivary Gland Adenoma, Pleomorphic is PLAG1 (PLAG1 Zinc Finger). Affiliated tissues include salivary gland, prostate and breast, and related phenotypes are salivary gland neoplasm and Decreased shRNA abundance (Z-score < -2)

More information from OMIM: 181030

Related Diseases for Salivary Gland Adenoma, Pleomorphic

Diseases related to Salivary Gland Adenoma, Pleomorphic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 285)
# Related Disease Score Top Affiliating Genes
1 pleomorphic adenoma 31.3 S100B PLAG1 HMGA2
2 pleomorphic adenoma carcinoma 30.0 PLAG1 HMGA2
3 myoepithelial carcinoma 29.9 PLAG1 HMGA2
4 myoepithelioma 29.9 S100B PLAG1
5 adenoid cystic carcinoma 29.6 S100B PLAG1
6 epithelial-myoepithelial carcinoma 29.6 PLAG1 HMGA2
7 lipomatosis, multiple 29.5 PLAG1 HMGA2
8 myxoid liposarcoma 29.4 PLAG1 HMGA2
9 prostate cancer 12.0
10 spondyloarthropathy 1 11.6
11 prostatic hypertrophy 11.0
12 prostatic hyperplasia, benign 11.0
13 prostatic adenoma 11.0
14 prostatitis 10.7
15 prostate disease 10.7
16 psoriatic arthritis 10.7
17 suppression of tumorigenicity 12 10.6
18 adenocarcinoma 10.6
19 pustulosis of palm and sole 10.4
20 psoriasis 10.4
21 breast cancer 10.4
22 vaccinia 10.4
23 bladder cancer 10.3
24 body mass index quantitative trait locus 1 10.3
25 pachyonychia congenita 3 10.3
26 impotence 10.3
27 pik3ca-related overgrowth syndrome 10.3
28 inflammatory spondylopathy 10.3
29 adenoma 10.3
30 spondylitis 10.3
31 48,xyyy 10.3
32 tic disorder 10.3
33 hard palate cancer 10.3
34 mucoepidermoid carcinoma 10.3
35 acute cystitis 10.2
36 hypogonadism 10.2
37 breast disease 10.2
38 hypogonadotropism 10.2
39 arthritis 10.2
40 47,xyy 10.2
41 spinal cord injury 10.2
42 bone disease 10.1
43 polycystic ovary syndrome 10.1
44 leiomyoma, uterine 10.1
45 wilms tumor 1 10.1
46 wilms tumor 5 10.1
47 pleomorphic lipoma 10.1
48 leiomyoma 10.1
49 giant cell tumor 10.1
50 neurilemmoma 10.1

Graphical network of the top 20 diseases related to Salivary Gland Adenoma, Pleomorphic:



Diseases related to Salivary Gland Adenoma, Pleomorphic

Symptoms & Phenotypes for Salivary Gland Adenoma, Pleomorphic

Human phenotypes related to Salivary Gland Adenoma, Pleomorphic:

31
# Description HPO Frequency HPO Source Accession
1 salivary gland neoplasm 31 HP:0100684

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
pleomorphic benign salivary gland adenoma (psa)

Laboratory Abnormalities:
chromosome 3p or 8q rearrangements (in many patients)

Clinical features from OMIM:

181030

GenomeRNAi Phenotypes related to Salivary Gland Adenoma, Pleomorphic according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.17 PLAG1 S100B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.17 S100B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.17 PLAG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.17 S100B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.17 S100B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.17 S100B

Drugs & Therapeutics for Salivary Gland Adenoma, Pleomorphic

Search Clinical Trials , NIH Clinical Center for Salivary Gland Adenoma, Pleomorphic

Genetic Tests for Salivary Gland Adenoma, Pleomorphic

Genetic tests related to Salivary Gland Adenoma, Pleomorphic:

# Genetic test Affiliating Genes
1 Pleomorphic Adenoma of Salivary Gland 29 PLAG1

Anatomical Context for Salivary Gland Adenoma, Pleomorphic

MalaCards organs/tissues related to Salivary Gland Adenoma, Pleomorphic:

40
Salivary Gland, Prostate, Breast, Bone, Liver, Kidney, Lung

Publications for Salivary Gland Adenoma, Pleomorphic

Articles related to Salivary Gland Adenoma, Pleomorphic:

(show top 50) (show all 84)
# Title Authors PMID Year
1
CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. 56
16736500 2006
2
Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. 56
10029085 1999
3
High p21RAS expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors. 56
2562114 1989
4
Structural rearrangements of chromosome Nr 8 involving 8q12--a primary event in pleomorphic ademona of the parotid gland. 56
3505884 1987
5
Rearrangements of chromosome region 12q13----q15 in pleomorphic adenomas of the human salivary gland (PSA). 56
3691185 1987
6
Cytogenetical observations in 100 human benign pleomorphic adenomas: specificity of the chromosomal aberrations and their relationship to sites of localized oncogenes. 56
3707067 1986
7
WIF1, an inhibitor of the Wnt pathway, is rearranged in salivary gland tumors. 54 61
17171686 2007
8
PLAG1 gene alterations in salivary gland pleomorphic adenoma and carcinoma ex-pleomorphic adenoma: a combined study using chromosome banding, in situ hybridization and immunocytochemistry. 54 61
15920557 2005
9
Transcription factor early growth response-1 plays an oncogenic role in salivary gland pleomorphic adenoma. 61
31786685 2020
10
Role of CD44 in tumor-initiating cells of salivary gland pleomorphic adenoma: More than a surface biomarker. 61
31926047 2020
11
Metastasising Pleomorphic Salivary Adenoma: A Rare Case Report of a Massive Untreated Minor Salivary Gland Pleomorphic Adenoma with Concurrent Ipsilateral Cervical Node Metastases. 61
29725854 2019
12
Ectopic pleomorphic adenoma on subcutaneous plane of the cheek. 61
30703863 2019
13
Malignant Chondroid Syringoma With Nose and Paranasal Sinus Extension: A Case Report. 61
31840006 2019
14
Immunohistochemical evaluation of salivary gland tumors differentiation and proliferation by using calponin and telomerase. 61
30705574 2019
15
Recurrent rearrangements of the PLAG1 and HMGA2 genes in lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma. 61
29437290 2018
16
Apurinic/apyrimidinic endonuclease 1 (APE1) is overexpressed in malignant transformation of salivary gland pleomorphic adenoma. 61
28523411 2017
17
Salivary gland pleomorphic adenoma in the Netherlands: A nationwide observational study of primary tumor incidence, malignant transformation, recurrence, and risk factors for recurrence. 61
28249655 2017
18
Submandibular salivary gland tumors: Clinical course and outcome of a 20-year multicenter study. 61
28346650 2017
19
Perfusion MR imaging detection of carcinoma arising from preexisting salivary gland pleomorphic adenoma by computer-assisted analysis of time-signal intensity maps. 61
28531213 2017
20
Intratumor molecular heterogeneity in pleomorphic adenoma of the salivary glands. 61
26617333 2016
21
Transcription factors related to chondrogenesis in pleomorphic adenoma of the salivary gland: a mechanism of mesenchymal tissue formation. 61
26501866 2016
22
Functional Histology of Salivary Gland Pleomorphic Adenoma: An Appraisal. 61
25380577 2015
23
[Cutaneous adnexal and salivary gland tumours. Similarities and differences]. 61
25103327 2014
24
Fine-needle aspiration cytology of chondroid syringoma of fore arm: Report of a rare case. 61
25538390 2014
25
[Rare giant salivary gland pleomorphic adenoma on the neck]. 61
24620671 2013
26
Salivary gland pleomorphic adenoma with giant cell tumor component. 61
23349467 2013
27
CD24 and CD44 in salivary gland pleomorphic adenoma and in human salivary gland morphogenesis: differential markers of glandular structure or stem cell indicators? 61
23600676 2013
28
Clinical characteristics of pleomorphic adenoma of salivary glands among Jordanian patients. 61
23914638 2013
29
The involvement of growth differentiation factor 5 (GDF5) and aggrecan in the epithelial-mesenchymal transition of salivary gland pleomorphic adenoma. 61
24398992 2013
30
Chromosomal aberrations in minor salivary gland pleomorphic adenoma. 61
22695012 2012
31
The increased PDGF-A, PDGF-B and FGF-2 expression in recurrence of salivary gland pleomorphic adenoma. 61
22174424 2012
32
Expression of gelatinases (MMP-2, MMP-9) and cyclooxygenases (COX-1, COX-2) in some benign salivary gland tumors. 61
22507323 2012
33
Extra-major salivary gland pleomorphic adenoma of the head and neck: a 10-year experience and review of the literature. 61
21120660 2011
34
Increased mucin 1 expression in recurrence and malignant transformation of salivary gland pleomorphic adenoma. 61
21323961 2011
35
[Expression of transforming growth factor-β(1) and Ki-67 nuclear antigen in salivary gland mucoepidermoid carcinoma]. 61
21418940 2011
36
Immunohistochemical expression of p21 in normal tissues of salivary gland, pleomorphic adenoma and carcinoma ex pleomorphic adenoma-(undifferentiated and adenocarcinoma types). 61
20383106 2010
37
[Ezrin and inducible nitric oxide synthase in malignant proliferation of salivary gland pleomorphic adenoma]. 61
19799816 2009
38
High-resolution genomic profiling of adenomas and carcinomas of the salivary glands reveals amplification, rearrangement, and fusion of HMGA2. 61
18828159 2009
39
Salivary gland pleomorphic adenoma. 61
18376235 2008
40
[Application of fourier transform infrared spectroscopy to non-invasive detection of pleomorphic adenoma of salivary gland in vivo]. 61
18330277 2007
41
Myxoid renal tumor with myoepithelial differentiation mimicking a salivary gland pleomorphic adenoma: description of a case. 61
17414112 2007
42
Wnt pathway is involved in pleomorphic adenomas induced by overexpression of PLAG1 in transgenic mice. 54
16108035 2006
43
Management of parapharyngeal minor salivary neoplasms in children: a case report and review. 61
15955569 2006
44
Maspin expression in normal and neoplastic salivary gland. 61
15250837 2004
45
Repression of the Transactivating Capacity of the Oncoprotein PLAG1 by SUMOylation. 54
15208321 2004
46
Pleomorphic adenoma of minor salivary gland in the parapharyngeal space. 61
12773223 2003
47
Cell membrane expression of MIB-1 in salivary gland pleomorphic adenoma. 61
12460210 2002
48
An unusual case of dysphagia: ectopic salivary gland pleomorphic adenoma of the parapharyngeal space. 61
12121031 2002
49
Cytokeratin 14 expression in epithelial neoplasms: a survey of 435 cases with emphasis on its value in differentiating squamous cell carcinomas from other epithelial tumours. 61
11454039 2001
50
Intra-sellar salivary gland-like pleomorphic adenoma arising within the wall of a Rathke's cleft cyst. 61
11788014 2000

Variations for Salivary Gland Adenoma, Pleomorphic

Cosmic variations for Salivary Gland Adenoma, Pleomorphic:

9 (show top 50) (show all 95)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88200899 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 27
2 COSM87899124 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 27
3 COSM87900273 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 27
4 COSM87922154 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 27
5 COSM87803980 KRAS salivary gland,NS,adenoma,pleomorphic c.38G>C p.G13A 12:25245347-25245347 27
6 COSM112988832 HRAS salivary gland,NS,adenoma,pleomorphic c.37G>C p.G13R 11:534286-534286 27
7 COSM112988978 HRAS salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 27
8 COSM112989371 HRAS salivary gland,NS,adenoma,pleomorphic c.34G>A p.G12S 11:534289-534289 27
9 COSM144087548 salivary gland,NS,adenoma,pleomorphic c.11A>G p.Y4C 17:7675124-7675124 27
10 COSM101951743 salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 27
11 COSM105643083 salivary gland,NS,adenoma,pleomorphic c.782+378C>A p.? 17:7673803-7673803 27
12 COSM93204208 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 27
13 COSM106054980 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 27
14 COSM142560924 salivary gland,NS,adenoma,pleomorphic c.371A>G p.Y124C 17:7675124-7675124 27
15 COSM145019913 salivary gland,NS,adenoma,pleomorphic c.310G>A p.V104M 17:7675185-7675185 27
16 COSM122998695 salivary gland,NS,adenoma,pleomorphic c.302A>C p.H101P 17:7674265-7674265 27
17 COSM134990080 salivary gland,NS,adenoma,pleomorphic c.38G>C p.G13A 12:25245347-25245347 27
18 COSM143173580 salivary gland,NS,adenoma,pleomorphic c.340C>A p.R114S 17:7673803-7673803 27
19 COSM142852695 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 27
20 COSM93185360 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 27
21 COSM144310842 salivary gland,NS,adenoma,pleomorphic c.371A>G p.Y124C 17:7675124-7675124 27
22 COSM101967380 salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 27
23 COSM122150785 salivary gland,NS,adenoma,pleomorphic c.302A>C p.H101P 17:7674265-7674265 27
24 COSM111760285 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 27
25 COSM144238294 salivary gland,NS,adenoma,pleomorphic c.665A>C p.H222P 17:7674265-7674265 27
26 COSM111779193 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 27
27 COSM101967772 salivary gland,NS,adenoma,pleomorphic c.34G>A p.G12S 11:534289-534289 27
28 COSM105898405 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 27
29 COSM143945794 salivary gland,NS,adenoma,pleomorphic c.-51G>A p.? 17:7675185-7675185 27
30 COSM91331132 salivary gland,NS,adenoma,pleomorphic c.37G>C p.G13R 11:534286-534286 27
31 COSM143391770 salivary gland,NS,adenoma,pleomorphic c.700C>A p.R234S 17:7673803-7673803 27
32 COSM143072841 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 27
33 COSM145036443 salivary gland,NS,adenoma,pleomorphic c.700C>A p.R234S 17:7673803-7673803 27
34 COSM112254313 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 27
35 COSM142837877 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 27
36 COSM105721542 salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 27
37 COSM106307120 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 27
38 COSM112515042 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 27
39 COSM144031768 salivary gland,NS,adenoma,pleomorphic c.784C>A p.R262S 17:7673803-7673803 27
40 COSM122734714 salivary gland,NS,adenoma,pleomorphic c.92A>G p.Y31C 17:7675124-7675124 27
41 COSM105621094 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 27
42 COSM91331304 salivary gland,NS,adenoma,pleomorphic c.34G>C p.G12R 11:534289-534289 27
43 COSM105721363 salivary gland,NS,adenoma,pleomorphic c.37G>C p.G13R 11:534286-534286 27
44 COSM112255102 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 27
45 COSM91859702 salivary gland,NS,adenoma,pleomorphic c.38G>C p.G13A 12:25245347-25245347 27
46 COSM112274404 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 27
47 COSM91331691 salivary gland,NS,adenoma,pleomorphic c.34G>A p.G12S 11:534289-534289 27
48 COSM144088212 salivary gland,NS,adenoma,pleomorphic c.-51G>A p.? 17:7675185-7675185 27
49 COSM144167306 salivary gland,NS,adenoma,pleomorphic c.221A>C p.H74P 17:7674265-7674265 27
50 COSM101951576 salivary gland,NS,adenoma,pleomorphic c.37G>C p.G13R 11:534286-534286 27

Expression for Salivary Gland Adenoma, Pleomorphic

Search GEO for disease gene expression data for Salivary Gland Adenoma, Pleomorphic.

Pathways for Salivary Gland Adenoma, Pleomorphic

GO Terms for Salivary Gland Adenoma, Pleomorphic

Biological processes related to Salivary Gland Adenoma, Pleomorphic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.96 PLAG1 HMGA2
2 positive regulation of apoptotic process GO:0043065 8.62 S100B HMGA2

Molecular functions related to Salivary Gland Adenoma, Pleomorphic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.96 PLAG1 HMGA2
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.62 PLAG1 HMGA2

Sources for Salivary Gland Adenoma, Pleomorphic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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