PSA
MCID: SLV025
MIFTS: 36

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 57 54
Salivary Gland Pleomorphic Adenoma 17 70
Adenomas, Salivary Gland Pleomorphic, Somatic 57
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 57
Psa 57

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®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation


HPO:

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


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM® 57 181030
ICD10 via Orphanet 33 D11.0 D11.7
MedGen 41 C1519176
UMLS 70 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 carcinoma and pleomorphic adenoma. An important gene associated with Salivary Gland Adenoma, Pleomorphic is PLAG1 (PLAG1 Zinc Finger). Affiliated tissues include salivary gland, bone and smooth muscle, and related phenotypes are salivary gland neoplasm and Increased 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 269)
# Related Disease Score Top Affiliating Genes
1 pleomorphic adenoma carcinoma 30.1 PLAG1 HMGA2
2 pleomorphic adenoma 29.9 S100B PLAG1 HMGA2
3 myoepithelial carcinoma 29.8 PLAG1 HMGA2
4 lipomatosis, multiple 29.7 PLAG1 HMGA2
5 adenoid cystic carcinoma 29.6 S100B PLAG1
6 prostate cancer 11.5
7 spondyloarthropathy 1 11.0
8 prostatic hypertrophy 11.0
9 prostatic hyperplasia, benign 10.9
10 prostatic adenoma 10.9
11 prostatitis 10.7
12 prostate disease 10.7
13 psoriatic arthritis 10.7
14 suppression of tumorigenicity 12 10.6
15 arthritis 10.6
16 adenocarcinoma 10.3
17 pustulosis of palm and sole 10.3
18 psoriasis 10.3
19 body mass index quantitative trait locus 1 10.3
20 vaccinia 10.3
21 urinary tract infection 10.3
22 impotence 10.3
23 tic disorder 10.3
24 pachyonychia congenita 3 10.3
25 pik3ca-related overgrowth syndrome 10.3
26 inflammatory spondylopathy 10.2
27 spondylitis 10.2
28 47,xyy 10.2
29 body mass index quantitative trait locus 9 10.2
30 body mass index quantitative trait locus 8 10.2
31 body mass index quantitative trait locus 4 10.2
32 body mass index quantitative trait locus 10 10.2
33 body mass index quantitative trait locus 7 10.2
34 body mass index quantitative trait locus 12 10.2
35 body mass index quantitative trait locus 14 10.2
36 body mass index quantitative trait locus 18 10.2
37 body mass index quantitative trait locus 19 10.2
38 adenoma 10.2
39 bladder cancer 10.2
40 body mass index quantitative trait locus 11 10.2
41 hypogonadism 10.2
42 48,xyyy 10.2
43 papillary carcinoma 10.2
44 mucoepidermoid carcinoma 10.2
45 breast disease 10.1
46 spinal cord injury 10.1
47 leiomyoma, uterine 10.1
48 chordoma 10.1
49 myxoid liposarcoma 10.1
50 pleomorphic lipoma 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®:

57 (Updated 05-Apr-2021)
Neoplasia:
pleomorphic benign salivary gland adenoma (psa)

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

Clinical features from OMIM®:

181030 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.1 PLAG1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.1 PLAG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.1 S100B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.1 S100B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.1 PLAG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.1 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, Bone, Smooth Muscle, Breast

Publications for Salivary Gland Adenoma, Pleomorphic

Articles related to Salivary Gland Adenoma, Pleomorphic:

(show top 50) (show all 85)
# Title Authors PMID Year
1
CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas. 57
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. 57
10029085 1999
3
High p21RAS expression levels correlate with chromosome 8 rearrangements in benign human mixed salivary gland tumors. 57
2562114 1989
4
Structural rearrangements of chromosome Nr 8 involving 8q12--a primary event in pleomorphic ademona of the parotid gland. 57
3505884 1987
5
Rearrangements of chromosome region 12q13----q15 in pleomorphic adenomas of the human salivary gland (PSA). 57
3691185 1987
6
Cytogenetical observations in 100 human benign pleomorphic adenomas: specificity of the chromosomal aberrations and their relationship to sites of localized oncogenes. 57
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
Role of CD44 in tumor-initiating cells of salivary gland pleomorphic adenoma: More than a surface biomarker. 61
31926047 2020
10
Transcription factor early growth response-1 plays an oncogenic role in salivary gland pleomorphic adenoma. 61
31786685 2020
11
Pleomorphic adenoma of the upper lip. 61
33041587 2020
12
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
13
Ectopic pleomorphic adenoma on subcutaneous plane of the cheek. 61
30703863 2019
14
Immunohistochemical evaluation of salivary gland tumors differentiation and proliferation by using calponin and telomerase. 61
30705574 2019
15
Malignant Chondroid Syringoma With Nose and Paranasal Sinus Extension: A Case Report. 61
31840006 2019
16
Recurrent rearrangements of the PLAG1 and HMGA2 genes in lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma. 61
29437290 2018
17
Apurinic/apyrimidinic endonuclease 1 (APE1) is overexpressed in malignant transformation of salivary gland pleomorphic adenoma. 61
28523411 2017
18
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
19
Submandibular salivary gland tumors: Clinical course and outcome of a 20-year multicenter study. 61
28346650 2017
20
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
21
Intratumor molecular heterogeneity in pleomorphic adenoma of the salivary glands. 61
26617333 2016
22
Transcription factors related to chondrogenesis in pleomorphic adenoma of the salivary gland: a mechanism of mesenchymal tissue formation. 61
26501866 2016
23
Functional Histology of Salivary Gland Pleomorphic Adenoma: An Appraisal. 61
25380577 2015
24
[Cutaneous adnexal and salivary gland tumours. Similarities and differences]. 61
25103327 2014
25
Fine-needle aspiration cytology of chondroid syringoma of fore arm: Report of a rare case. 61
25538390 2014
26
[Rare giant salivary gland pleomorphic adenoma on the neck]. 61
24620671 2013
27
Salivary gland pleomorphic adenoma with giant cell tumor component. 61
23349467 2013
28
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
29
Clinical characteristics of pleomorphic adenoma of salivary glands among Jordanian patients. 61
23914638 2013
30
The involvement of growth differentiation factor 5 (GDF5) and aggrecan in the epithelial-mesenchymal transition of salivary gland pleomorphic adenoma. 61
24398992 2013
31
Chromosomal aberrations in minor salivary gland pleomorphic adenoma. 61
22695012 2012
32
The increased PDGF-A, PDGF-B and FGF-2 expression in recurrence of salivary gland pleomorphic adenoma. 61
22174424 2012
33
Expression of gelatinases (MMP-2, MMP-9) and cyclooxygenases (COX-1, COX-2) in some benign salivary gland tumors. 61
22507323 2012
34
Extra-major salivary gland pleomorphic adenoma of the head and neck: a 10-year experience and review of the literature. 61
21120660 2011
35
Increased mucin 1 expression in recurrence and malignant transformation of salivary gland pleomorphic adenoma. 61
21323961 2011
36
[Expression of transforming growth factor-β(1) and Ki-67 nuclear antigen in salivary gland mucoepidermoid carcinoma]. 61
21418940 2011
37
Immunohistochemical expression of p21 in normal tissues of salivary gland, pleomorphic adenoma and carcinoma ex pleomorphic adenoma-(undifferentiated and adenocarcinoma types). 61
20383106 2010
38
[Ezrin and inducible nitric oxide synthase in malignant proliferation of salivary gland pleomorphic adenoma]. 61
19799816 2009
39
High-resolution genomic profiling of adenomas and carcinomas of the salivary glands reveals amplification, rearrangement, and fusion of HMGA2. 61
18828159 2009
40
Salivary gland pleomorphic adenoma. 61
18376235 2008
41
[Application of fourier transform infrared spectroscopy to non-invasive detection of pleomorphic adenoma of salivary gland in vivo]. 61
18330277 2007
42
Myxoid renal tumor with myoepithelial differentiation mimicking a salivary gland pleomorphic adenoma: description of a case. 61
17414112 2007
43
Wnt pathway is involved in pleomorphic adenomas induced by overexpression of PLAG1 in transgenic mice. 54
16108035 2006
44
Management of parapharyngeal minor salivary neoplasms in children: a case report and review. 61
15955569 2006
45
Maspin expression in normal and neoplastic salivary gland. 61
15250837 2004
46
Repression of the Transactivating Capacity of the Oncoprotein PLAG1 by SUMOylation. 54
15208321 2004
47
Pleomorphic adenoma of minor salivary gland in the parapharyngeal space. 61
12773223 2003
48
Cell membrane expression of MIB-1 in salivary gland pleomorphic adenoma. 61
12460210 2002
49
An unusual case of dysphagia: ectopic salivary gland pleomorphic adenoma of the parapharyngeal space. 61
12121031 2002
50
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

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 COSM144087548 TP53 salivary gland,NS,adenoma,pleomorphic c.11A>G p.Y4C 17:7675124-7675124 21
2 COSM105643083 TP53 salivary gland,NS,adenoma,pleomorphic c.782+378C>A p.? 17:7673803-7673803 21
3 COSM93204208 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 21
4 COSM106054980 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 21
5 COSM142560924 TP53 salivary gland,NS,adenoma,pleomorphic c.371A>G p.Y124C 17:7675124-7675124 21
6 COSM145019913 TP53 salivary gland,NS,adenoma,pleomorphic c.310G>A p.V104M 17:7675185-7675185 21
7 COSM122998695 TP53 salivary gland,NS,adenoma,pleomorphic c.302A>C p.H101P 17:7674265-7674265 21
8 COSM143173580 TP53 salivary gland,NS,adenoma,pleomorphic c.340C>A p.R114S 17:7673803-7673803 21
9 COSM142852695 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 21
10 COSM93185360 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 21
11 COSM144310842 TP53 salivary gland,NS,adenoma,pleomorphic c.371A>G p.Y124C 17:7675124-7675124 21
12 COSM122150785 TP53 salivary gland,NS,adenoma,pleomorphic c.302A>C p.H101P 17:7674265-7674265 21
13 COSM111760285 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 21
14 COSM144238294 TP53 salivary gland,NS,adenoma,pleomorphic c.665A>C p.H222P 17:7674265-7674265 21
15 COSM88200899 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 21
16 COSM111779193 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 21
17 COSM105898405 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 21
18 COSM143945794 TP53 salivary gland,NS,adenoma,pleomorphic c.-51G>A p.? 17:7675185-7675185 21
19 COSM143391770 TP53 salivary gland,NS,adenoma,pleomorphic c.700C>A p.R234S 17:7673803-7673803 21
20 COSM143072841 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 21
21 COSM145036443 TP53 salivary gland,NS,adenoma,pleomorphic c.700C>A p.R234S 17:7673803-7673803 21
22 COSM112254313 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
23 COSM142837877 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
24 COSM106307120 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 21
25 COSM112515042 TP53 salivary gland,NS,adenoma,pleomorphic c.698A>C p.H233P 17:7674265-7674265 21
26 COSM144031768 TP53 salivary gland,NS,adenoma,pleomorphic c.784C>A p.R262S 17:7673803-7673803 21
27 COSM122734714 TP53 salivary gland,NS,adenoma,pleomorphic c.92A>G p.Y31C 17:7675124-7675124 21
28 COSM87899124 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
29 COSM105621094 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
30 COSM112255102 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 21
31 COSM112274404 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 21
32 COSM144088212 TP53 salivary gland,NS,adenoma,pleomorphic c.-51G>A p.? 17:7675185-7675185 21
33 COSM144167306 TP53 salivary gland,NS,adenoma,pleomorphic c.221A>C p.H74P 17:7674265-7674265 21
34 COSM144653059 TP53 salivary gland,NS,adenoma,pleomorphic c.310G>A p.V104M 17:7675185-7675185 21
35 COSM111759267 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
36 COSM121878470 TP53 salivary gland,NS,adenoma,pleomorphic c.31G>A p.V11M 17:7675185-7675185 21
37 COSM144539920 TP53 salivary gland,NS,adenoma,pleomorphic c.581A>C p.H194P 17:7674265-7674265 21
38 COSM93184440 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
39 COSM143371571 TP53 salivary gland,NS,adenoma,pleomorphic c.371A>G p.Y124C 17:7675124-7675124 21
40 COSM105622244 TP53 salivary gland,NS,adenoma,pleomorphic c.427G>A p.V143M 17:7675185-7675185 21
41 COSM143944574 TP53 salivary gland,NS,adenoma,pleomorphic c.11A>G p.Y4C 17:7675124-7675124 21
42 COSM144651907 TP53 salivary gland,NS,adenoma,pleomorphic c.371A>G p.Y124C 17:7675124-7675124 21
43 COSM142580266 TP53 salivary gland,NS,adenoma,pleomorphic c.700C>A p.R234S 17:7673803-7673803 21
44 COSM143616387 TP53 salivary gland,NS,adenoma,pleomorphic c.581A>C p.H194P 17:7674265-7674265 21
45 COSM106053828 TP53 salivary gland,NS,adenoma,pleomorphic c.488A>G p.Y163C 17:7675124-7675124 21
46 COSM144926734 TP53 salivary gland,NS,adenoma,pleomorphic c.581A>C p.H194P 17:7674265-7674265 21
47 COSM122272158 TP53 salivary gland,NS,adenoma,pleomorphic c.92A>G p.Y31C 17:7675124-7675124 21
48 COSM106072773 TP53 salivary gland,NS,adenoma,pleomorphic c.817C>A p.R273S 17:7673803-7673803 21
49 COSM122273318 TP53 salivary gland,NS,adenoma,pleomorphic c.31G>A p.V11M 17:7675185-7675185 21
50 COSM145262541 TP53 salivary gland,NS,adenoma,pleomorphic c.581A>C p.H194P 17:7674265-7674265 21

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 8.62 PLAG1 HMGA2

Sources for Salivary Gland Adenoma, Pleomorphic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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