MCID: MLG049
MIFTS: 42

Malignant Syringoma

Categories: Cancer diseases, Eye diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Malignant Syringoma

MalaCards integrated aliases for Malignant Syringoma:

Name: Malignant Syringoma 11 14
Microcystic Adnexal Carcinoma 11 19
Microcystic Adnexal Carcinoma of Skin 11
Syringomatous Carcinoma 11
Eccrine Epithelioma 71

Classifications:



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Disease Ontology 11 DOID:5569
UMLS 71 C0346027

Summaries for Malignant Syringoma

GARD: 19 Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well. This tumor is often first noticed as a bump or yellowish spot in the skin. Though Microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes).

MalaCards based summary: Malignant Syringoma, also known as microcystic adnexal carcinoma, is related to infiltrative basal cell carcinoma and external ear carcinoma. An important gene associated with Malignant Syringoma is PHLDA1 (Pleckstrin Homology Like Domain Family A Member 1), and among its related pathways/superpathways are COPI-independent Golgi-to-ER retrograde traffic and Cytoskeletal Signaling. The drugs Nivolumab and Talimogene laherparepvec have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and bone marrow, and related phenotype is digestive/alimentary.

Related Diseases for Malignant Syringoma

Diseases in the Syringoma family:

Syringomas, Multiple Malignant Syringoma

Diseases related to Malignant Syringoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 440)
# Related Disease Score Top Affiliating Genes
1 infiltrative basal cell carcinoma 30.6 KRT17 KRT15
2 external ear carcinoma 30.2 KRT7 KRT5 CEACAM5
3 sebaceous adenocarcinoma 30.2 PIP KRT7 KRT5
4 muir-torre syndrome 30.1 PTGER4 KRT7 KRT5
5 teratoma 30.1 KRT7 KRT20 CEACAM5
6 meibomian cyst 30.1 PIP KRT7 KRT20
7 papilloma 30.0 KRT7 KRT5 KRT20
8 skin benign neoplasm 30.0 PIP KRT7 KRT5 KRT20 CD34
9 malignant acrospiroma 30.0 PIP PHLDA1 KRT7 KRT5 CEACAM5
10 eyelid carcinoma 29.9 PIP KRT7 KRT20
11 morpheaform basal cell carcinoma 29.9 PHLDA1 KRT20 KRT17 KRT15 CD34
12 sweat gland benign neoplasm 29.8 PIP KRT7 KRT5 CEACAM5 CD34
13 syringoma 29.8 PIP KRT7 KRT19 CEACAM5
14 apocrine sweat gland neoplasm 29.8 PIP KRT7 KRT5 KRT15 CEACAM5
15 adenoid cystic carcinoma 29.7 KRT7 KRT20 KRT19
16 cystic teratoma 29.7 KRT7 KRT20 CEACAM5 CD34
17 keratoacanthoma 29.6 KRT19 KRT17 KRT15
18 polycystic liver disease 1 with or without kidney cysts 29.6 KRT7 KRT20 KRT17 CEACAM5
19 breast ductal carcinoma 29.6 PIP KRT7 KRT5 KRT19
20 syringocystadenoma papilliferum 29.6 PIP PHLDA1 KRT7 KRT5 KRT15 CEACAM5
21 benign teratoma 29.4 KRT7 KRT5 KRT20 CEACAM5 CD34
22 basal cell carcinoma 28.8 PTGER4 PIP KRT7 KRT5 KRT20 KRT19
23 clear cell basal cell carcinoma 28.5 PHLDA1 KRT7 KRT5 KRT20 KRT19 KRT17
24 sweat gland cancer 28.3 PIP PHLDA1 KRT7 KRT5 KRT20 KRT19
25 basal cell carcinoma 1 10.7
26 rare tumor 10.5
27 macs syndrome 10.4
28 fanconi anemia, complementation group e 10.4
29 squamous cell carcinoma 10.4
30 skin squamous cell carcinoma 10.4
31 pilar sheath acanthoma 10.3 PHLDA1 KRT15
32 epidermal appendage tumor 10.3 PHLDA1 KRT15
33 acanthoma 10.3 PHLDA1 KRT5
34 atrophoderma vermiculata 10.3
35 skin carcinoma 10.3
36 sebaceous breast carcinoma 10.3 PIP CEACAM5
37 fox-fordyce disease 10.3 PIP CEACAM5
38 peritoneal serous papillary adenocarcinoma 10.3 PTGER4 PIP
39 villous adenoma 10.3 KRT7 CEACAM5
40 mucoepidermoid esophageal carcinoma 10.3 KRT5 CEACAM5
41 papillary thymic adenocarcinoma 10.3 PTGER4 CEACAM5
42 ovarian cystadenoma 10.3 KRT7 CEACAM5
43 peritoneal serous adenocarcinoma 10.3 PTGER4 PIP
44 leukoplakia of penis 10.3 KRT7 CEACAM5
45 clear cell acanthoma 10.2 KRT5 CEACAM5
46 pancreatic foamy gland adenocarcinoma 10.2 KRT7 CEACAM5
47 anal canal paget's disease 10.2 PIP KRT7
48 anal gland adenocarcinoma 10.2 PIP KRT7
49 anus adenocarcinoma 10.2 PIP KRT7
50 oncocytic breast carcinoma 10.2 PIP KRT7

Graphical network of the top 20 diseases related to Malignant Syringoma:



Diseases related to Malignant Syringoma

Symptoms & Phenotypes for Malignant Syringoma

MGI Mouse Phenotypes related to Malignant Syringoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.1 CEACAM5 KRT15 KRT17 KRT19 KRT5 PIP

Drugs & Therapeutics for Malignant Syringoma

Drugs for Malignant Syringoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nivolumab Approved Phase 2 946414-94-4
2
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
3 Immune Checkpoint Inhibitors Phase 2
4 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Recruiting NCT02978625 Phase 2

Search NIH Clinical Center for Malignant Syringoma

Genetic Tests for Malignant Syringoma

Anatomical Context for Malignant Syringoma

Organs/tissues related to Malignant Syringoma:

MalaCards : Skin, Lymph Node, Bone Marrow, Breast, Salivary Gland, Smooth Muscle, Tongue

Publications for Malignant Syringoma

Articles related to Malignant Syringoma:

(show top 50) (show all 328)
# Title Authors PMID Year
1
Epidemiological and Clinical Features of 49 Hispanic Patients With Microcystic Adnexal Carcinoma. 62
36368580 2022
2
Margin Size for Unique Skin Tumors Treated With Mohs Micrographic Surgery: A Survey of Practice Patterns. 62
36446119 2022
3
Microcystic adnexal carcinoma misdiagnosed as a "recurrent epidermal cyst": A case report. 62
36158483 2022
4
Epidemiological and Clinical Features of 49 Hispanic Patients With Microcystic Adnexal Carcinoma. 62
35753362 2022
5
A review of Mohs micrographic surgery for skin cancer. Part 1: Melanoma and rare skin cancers. 62
34939669 2022
6
Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation. 62
35509066 2022
7
Sclerosing Microcystic Adenocarcinoma Arising from the Tongue: A Case Report and Literature Review. 62
35626443 2022
8
Does Immunohistochemistry Add to Morphology in Differentiating Trichoepithelioma, Desmoplastic Trichoepithelioma, Morpheaform Basal Cell Carcinoma, and Microcystic Adnexal Carcinoma? 62
35384877 2022
9
Impact of expert pathology review in skin adnexal carcinoma diagnosis: Analysis of 2573 patients from the French CARADERM network. 62
35090811 2022
10
Microcystic adnexal carcinoma of the scalp treated with surgical resection along with chemoradiation: A case report and review of the literature. 62
34867014 2021
11
Microcystic Adnexal Adenoma: The Benign Counterpart of Microcystic Adnexal Carcinoma. 62
33859082 2021
12
Desmoplastic Trichoepithelioma With Pseudocarcinomatous Hyperplasia: A Folliculosebaceous Neoplasm in Young Persons. 62
33899770 2021
13
Emerging therapies for rare cutaneous cancers: A systematic review. 62
34418780 2021
14
Primary Alopecia Neoplastica: A Novel Case Report and Literature Review. 62
34901185 2021
15
Matrix Metalloproteinase 28-Bearing Microcystic Adnexal Carcinoma on the Back. 62
35082639 2021
16
Expression of Hedgehog signalling molecules in microcystic adnexal carcinoma. 62
33714217 2021
17
Sweat duct proliferation associated with aggregation of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma - a family with MALTA-syndrome. 62
34015181 2021
18
Microcystic Adnexal Carcinoma with Xanthomatous Reaction. 62
33734422 2021
19
Microcystic adnexal carcinoma of the glabella in a liver transplant recipient. 62
33869702 2021
20
Transposition flap plastic to cover an extensive defect of the upper lip region after resection of a microcystic adnexal carcinoma. 62
32989922 2021
21
Dermoscopic characteristics of microcystic adnexal carcinoma, desmoplastic trichoepithelioma, and morpheaform basal cell carcinoma. 62
32686120 2021
22
Local Recurrence Rates of Skin Tumors After Resection With Complete Circumferential Peripheral and Deep Margin Assessment-Identification of High-Risk Entities. 62
33565775 2021
23
Microcystic adnexal carcinoma of the head and neck: Characteristics, treatment, and survival statistics. 62
33210380 2021
24
MOHS micrographic surgery for head and neck nonmelanoma skin cancer: An approach for ENT surgeons. 62
33301226 2021
25
Facial microcystic adnexal carcinoma - treatment with a "jigsaw puzzle" advancement flap and immediate esthetic reconstruction: A case report. 62
33553398 2021
26
Microcystic adnexal carcinoma with germinative follicular differentiation. 62
32895957 2021
27
Epidemiology and Survival of Microcystic Adnexal Carcinoma by Sex in the United States. 62
31567608 2021
28
Mohs Surgery Outside Usual Indications: A Review. 62
33834992 2020
29
Sequencing of Sclerosing Microcystic Adenocarcinoma Identifies Mutational Burden and Somatic Variants Associated With Tumorigenesis. 62
33109575 2020
30
Periocular skin cancer: Diagnosis and management. 62
32600650 2020
31
Multifocal Recurrent Microcystic Adnexal Carcinoma. 62
32398617 2020
32
Morphologically high-grade microcystic adnexal carcinoma: a report of two cases. 62
32359178 2020
33
Determinants of Microcystic Adnexal Carcinoma Management and Outcomes in British Columbia. 62
32584171 2020
34
Microcystic adnexal carcinoma. 62
31347515 2020
35
Desmoplastic Trichoepithelioma: Histopathologic and Immunohistochemical Criteria for Differentiation of a Rare Benign Hair Follicle Tumor From Other Cutaneous Adnexal Tumors. 62
32923292 2020
36
Collision tumor of microcystic adnexal carcinoma and squamous cell carcinoma discovered on Mohs sections. 62
32490104 2020
37
Next-generation sequencing implicates oncogenic roles for p53 and JAK/STAT signaling in microcystic adnexal carcinomas. 62
31857679 2020
38
Microcystic adnexal carcinoma of the skin in atypical site (pubic region): clinical and dermatoscopic features. 62
30249079 2020
39
Mohs micrographic surgery: a treatment method for many non-melanocytic skin cancers. 62
32621679 2020
40
State of the art of Mohs surgery for rare cutaneous tumors in the Spanish Registry of Mohs Surgery (REGESMOHS). 62
31777957 2020
41
Dermoscopic pitfall: Microcystic adnexal carcinoma mimicking basal cell carcinoma. 62
31997790 2020
42
Microcystic Adnexal Carcinoma of the Face Treated With Definitive Chemoradiation: A Case Report and Review of the Literature. 62
32280832 2020
43
Solid Microcystic Adnexal Carcinoma on the Thigh: An Unusual Location. 62
31436574 2020
44
Ln-γ 2 chain of laminin-332 is a useful marker in differentiating between benign and malignant sclerosing adnexal neoplasms. 62
31429981 2020
45
An atypical presentation of extensive centrofacial microcystic adnexal carcinoma responding to radiation: A case report and review of the literature. 62
33062278 2020
46
Microcystic adnexal carcinoma: report of rare cases. 62
31912868 2020
47
Microcystic Adnexal Carcinoma: A Rare, Commonly Misdiagnosed Malignancy. 62
31125069 2019
48
Approaches to Perineural, Lymphovascular, and Single-Cell Disease. 62
31764297 2019
49
Microcystic Adnexal Carcinoma Originating in a Nevus Sebaceous: A Case Report of a 16-year-old Boy. 62
31386165 2019
50
Bilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma. 62
31045870 2019

Variations for Malignant Syringoma

Cosmic variations for Malignant Syringoma:

8 (show top 50) (show all 1402)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM144653327 TP53 skin,face,carcinoma,NS c.*131C>T p.? 17:7670685-7670685 7
2 COSM112254631 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 7
3 COSM143371865 TP53 skin,face,carcinoma,NS c.469C>T p.R157* 17:7674945-7674945 7
4 COSM93183824 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 17:7674283-7674283 7
5 COSM143943797 TP53 skin,neck,carcinoma,NS c.266G>A p.R89Q 17:7674220-7674220 7
6 COSM121875437 TP53 skin,face,carcinoma,NS c.178C>T p.Q60* 17:7674957-7674957 7
7 COSM143388508 TP53 skin,face,carcinoma,NS c.629G>C p.R210T 17:7674217-7674217 7
8 COSM111758868 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 7
9 COSM142570304 TP53 skin,face,carcinoma,NS c.715C>T p.P239S 17:7673788-7673788 7
10 COSM142560384 TP53 skin,face,carcinoma,NS c.616G>T p.G206C 17:7674230-7674230 7
11 COSM142742951 TP53 skin,face,carcinoma,NS c.315G>A p.Q105= 17:7675180-7675180 7
12 COSM105639284 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 7
13 COSM112253879 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 7
14 COSM121878773 TP53 skin,face,carcinoma,NS c.241C>T p.R81* 17:7674894-7674894 7
15 COSM111776406 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 7
16 COSM142837551 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 7
17 COSM122742188 TP53 skin,face,carcinoma,NS c.58C>T p.P20S 17:7675158-7675158 7
18 COSM122735020 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 7
19 COSM144028845 TP53 skin,face,carcinoma,NS c.679T>A p.C227S 17:7674251-7674251 7
20 COSM144021997 TP53 skin,face,carcinoma,NS c.421C>T p.P141S 17:7675158-7675158 7
21 COSM144015364 TP53 skin,face,carcinoma,NS c.604C>T p.R202* 17:7674894-7674894 7
22 COSM121877621 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 7
23 COSM93201188 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 7
24 COSM144658487 TP53 skin,face,carcinoma,NS c.143C>A p.P48Q 17:7676109-7676109 7
25 COSM142639459 TP53 skin,face,carcinoma,NS c.597T>A p.C199* 17:7674249-7674249 7
26 COSM105620390 TP53 skin,face,carcinoma,NS c.733G>T p.G245C 17:7674230-7674230 7
27 COSM144014436 TP53 skin,face,carcinoma,NS c.553C>T p.R185* 17:7674945-7674945 7
28 COSM112253194 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 7
29 COSM112263720 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 7
30 COSM122272676 TP53 skin,face,carcinoma,NS c.190C>T p.R64* 17:7674945-7674945 7
31 COSM93239210 TP53 skin,face,carcinoma,NS c.706T>C p.Y236H 17:7674257-7674257 7
32 COSM144651436 TP53 skin,face,carcinoma,NS c.625C>T p.R209W 17:7674221-7674221 7
33 COSM105620642 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 7
34 COSM144013959 TP53 skin,face,carcinoma,NS c.502C>T p.H168Y 17:7675077-7675077 7
35 COSM143949062 TP53 skin,face,carcinoma,NS c.263A>C p.N88T 17:7674223-7674223 7
36 COSM121876459 TP53 skin,face,carcinoma,NS c.346C>T p.R116W 17:7674221-7674221 7
37 COSM111775215 TP53 skin,face,carcinoma,NS c.746G>C p.R249T 17:7674217-7674217 7
38 COSM111765498 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 7
39 COSM142838765 TP53 skin,face,carcinoma,NS c.*131C>T p.? 17:7670685-7670685 7
40 COSM93191278 TP53 skin,face,carcinoma,NS c.517G>A p.V173M 17:7675095-7675095 7
41 COSM144129318 TP53 skin,face,carcinoma,NS c.229T>C p.Y77H 17:7674257-7674257 7
42 COSM144088618 TP53 skin,face,carcinoma,NS c.160C>T p.R54* 17:7674894-7674894 7
43 COSM87910628 TP53 skin,face,carcinoma,NS c.772G>A p.E258K 17:7674191-7674191 7
44 COSM87898709 TP53 skin,face,carcinoma,NS c.742C>T p.R248W 17:7674221-7674221 7
45 COSM144691571 TP53 skin,face,carcinoma,NS c.302C>T p.T101I 17:7675193-7675193 7
46 COSM144013187 TP53 skin,face,carcinoma,NS c.800C>G p.P267R 17:7673787-7673787 7
47 COSM143156943 TP53 skin,face,carcinoma,NS c.203C>T p.S68F 17:7674283-7674283 7
48 COSM144324830 TP53 skin,face,carcinoma,NS c.595T>A p.C199S 17:7674251-7674251 7
49 COSM144662686 TP53 skin,face,carcinoma,NS c.715C>T p.P239S 17:7673788-7673788 7
50 COSM144650676 TP53 skin,face,carcinoma,NS c.457C>T p.Q153* 17:7674957-7674957 7

Expression for Malignant Syringoma

Search GEO for disease gene expression data for Malignant Syringoma.

Pathways for Malignant Syringoma

Pathways related to Malignant Syringoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 KRT7 KRT5 KRT19 KRT17
2 11.84 KRT7 KRT5 KRT20 KRT19 KRT17
3
Show member pathways
11.64 KRT7 KRT5 KRT20 KRT19 KRT17 KRT15

GO Terms for Malignant Syringoma

Cellular components related to Malignant Syringoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.63 KRT7 KRT5 KRT17
2 intermediate filament GO:0005882 9.36 KRT7 KRT5 KRT20 KRT19 KRT17 KRT15
3 cell periphery GO:0071944 9.26 KRT19 KRT17 CD34

Biological processes related to Malignant Syringoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.63 KRT7 KRT5 KRT17
2 negative regulation of T cell apoptotic process GO:0070233 9.56 PIP DOCK8
3 epithelial cell differentiation GO:0030855 9.56 KRT20 KRT19 KRT17 KRT15
4 intermediate filament organization GO:0045109 9.4 KRT7 KRT5 KRT20 KRT19 KRT17 KRT15

Molecular functions related to Malignant Syringoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.35 KRT20 KRT19 KRT17 KRT15
2 structural constituent of cytoskeleton GO:0005200 9.23 KRT5 KRT20 KRT19 KRT15

Sources for Malignant Syringoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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