MCID: MRK001
MIFTS: 53

Merkel Cell Carcinoma malady

Rare diseases, Cancer diseases categories

Summaries for Merkel Cell Carcinoma

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Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Merkel cell carcinoma is a rare type of skin cancer that appears as a painless, hardened, red to purplish bump.  it occurs primarily in sun-exposed skin of the head and neck, though it can also occur on the skin of the arms, legs, and trunk.  it is considered fast-growing (aggressive), meaning that it can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body.  merkel cell carcinoma is diagnosed by biopsy, when some of the tissue is removed and examined under a microscope.  in 2007, approximately 1500 people in the united states were diagnosed with this type of cancer.  treatment depends on the size of the cancer and the extent to which it has spread as determined by imaging studies. last updated: 5/28/2011

MalaCards: Merkel Cell Carcinoma, also known as trabecular adenocarcinoma, is related to neuroendocrine carcinoma and glomus tumor. An important gene associated with Merkel Cell Carcinoma is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways is Transcription factors in neurogenesis. The compounds chloroquine and mucicarmine have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and thyroid, and related mouse phenotypes are behavior/neurological and endocrine/exocrine gland.

Wikipedia:66 Merkel cell carcinoma is a rare and highly aggressive skin cancer, which, in most cases, is caused by a... more...

Aliases & Classifications for Merkel Cell Carcinoma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 63UMLS, 46Novoseek, 41NCIt, 59SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases


Aliases & Descriptions:

merkel cell carcinoma 9 44 11 63
trabecular adenocarcinoma 9 63
carcinoma, merkel cell 44
carcinoma merkel cell 46
trabecular carcinoma 9
merkel cell cancer 44
merkle tumors 44


External Ids:

Disease Ontology9 DOID:3965
SNOMED-CT59 29792007
NCIt41 C4068

Related Diseases for Merkel Cell Carcinoma

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Merkel Cell Carcinoma:



Diseases related to merkel cell carcinoma

Symptoms for Merkel Cell Carcinoma

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Drugs & Therapeutics for Merkel Cell Carcinoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Merkel Cell Carcinoma

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Anatomical Context for Merkel Cell Carcinoma

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34MalaCards
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MalaCards organs/tissues related to Merkel Cell Carcinoma:

34
Skin, Lymph node, Thyroid, Pancreas, Kidney, Lung, B cells, T cells, Breast, Bone marrow, Bone, Heart, Adrenal gland, Colon, Tonsil, Endothelial, Pituitary

Animal Models for Merkel Cell Carcinoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Merkel Cell Carcinoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.6SDHD, POU4F3, NKX2-1, KIT, ASCL1
2MP:00053798.6NKX2-1, KIT, ASCL1, ATOH1, SDHD
3MP:00030128.5ASCL1, ATOH1, KIT, NKX2-1, SYP
4MP:00053818.5KIT, MST1, NKX2-1, ATOH1
5MP:00053888.4NKX2-1, ASCL1, MMP10, ATOH1, KIT
6MP:00053848.2ASCL1, NKX2-1, SDHD, ATOH1, KIT, POU4F3
7MP:00053788.0NKX2-1, POU4F3, MST1, ASCL1, SDHD, KIT
8MP:00036317.9POU4F3, KIT, NKX2-1, SYP, ASCL1, SDHD
9MP:00107687.8ATOH1, NKX2-1, KIT, POU4F3, ASCL1, SDHD
10MP:00028737.8ATOH1, POU4F3, ASCL1, SYP, SDHD, MMP10

Publications for Merkel Cell Carcinoma

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53PubMed
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Articles related to Merkel Cell Carcinoma:

(show top 50)    (show all 611)
idTitleAuthorsYear
1
18F-FDG PET provides high-impact and powerful prognostic stratification in the staging of Merkel cell carcinoma: a 15-year institutional experience. (23753187)
2013
2
Aberrant Promoter Hypermethylation of RASSF Family Members in Merkel Cell Carcinoma. (24252868)
2013
3
Merkel cell carcinoma with sarcomatous differentiation: is it a poor prognostic factor? (23278615)
2013
4
Primary cutaneous neuroendocrine carcinoma, Merkel cell carcinoma. Case series 1991-2012. (24094946)
2013
5
Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma. (23621836)
2013
6
Emerging and mechanism-based therapies for recurrent or metastatic Merkel cell carcinoma. (23436166)
2013
7
A practical update of surgical management of merkel cell carcinoma of the skin. (23431473)
2013
8
Brief S2k guidelines--Merkel cell carcinoma. (23734895)
2013
9
Merkel cell carcinoma: interdisciplinary management of a rare disease. (23401779)
2013
10
(68)Ga-DotaTATE PET-CT followed by Peptide Receptor Radiotherapy in combination with capecitabine in two patients with Merkel Cell Carcinoma. (23293710)
2012
11
BMI1 expression identifies subtypes of Merkel cell carcinoma. (23064620)
2012
12
Merkel cell carcinoma: a retrospective study on 48 cases and review of literature. (23024654)
2012
13
Primary tumor thickness as a prognostic factor in Merkel cell carcinoma: the next big thing? (22825775)
2012
14
Latest update on the clinical features and management of Merkel cell carcinoma. (22764461)
2012
15
A merkel cell carcinoma of the lacrimal gland. (21743373)
2012
16
Increasing tumor thickness is associated with recurrence and poorer survival in patients with Merkel cell carcinoma. (22820936)
2012
17
Merkel cell carcinoma of the head and neck and associated second primary cancers: report of three cases. (23397790)
2012
18
Bcl-2 expression indicates better prognosis of Merkel cell carcinoma regardless of the presence of Merkel cell polyomavirus. (22976527)
2012
19
Merkel cell carcinoma presenting in a young patient as a forme fruste of variant epidermodysplasia verruciformis. (21839331)
2011
20
Merkel cell carcinoma in a 17-year-old boy, report of a highly aggressive fatal case and review of the literature. (22066041)
2011
21
KIT receptor activation by autocrine and paracrine stem cell factor stimulates growth of merkel cell carcinoma in vitro. (20857409)
2011
22
Merkel cell carcinoma: 27-year experience at the Peter MacCallum Cancer Centre. (20708847)
2011
23
Detection of Merkel cell polyomavirus (MCPyV) in Merkel cell carcinoma cell lines: cell morphology and growth phenotype do not reflect presence of the virus. (19739110)
2010
24
A phase II trial of imatinib mesylate in merkel cell carcinoma (neuroendocrine carcinoma of the skin): A Southwest Oncology Group study (S0331). (20019577)
2010
25
Multicentric cutaneous neuroendocrine (Merkel cell) carcinoma in a dog. (20634406)
2010
26
Complete spontaneous regression of metastatic merkel cell carcinoma: a case report and review of the literature. (20520522)
2010
27
Importance of sentinel lymph node biopsy in Merkel cell carcinoma. (21083715)
2010
28
Merkel cell carcinoma. (20943647)
2010
29
Primary merkel cell carcinoma clinically presenting as deep oedematous mass of the groin. (20696637)
2010
30
Merkel cell carcinoma of the inguinal lymph node with an unknown primary site. (19335694)
2009
31
Reactivation and mutation of newly discovered WU, KI, and Merkel cell carcinoma polyomaviruses in immunosuppressed individuals. (19090778)
2009
32
Merkel cell carcinoma of the vulva. (19417978)
2009
33
Clinical course and prognostic factors of Merkel cell carcinoma of the skin. (19438439)
2009
34
Expression of Notch-1 and alteration of the E-cadherin/beta-catenin cell adhesion complex are observed in primary cutaneous neuroendocrine carcinoma (Merkel cell carcinoma). (19396152)
2009
35
Merkel cell polyomavirus strains in patients with merkel cell carcinoma. (19523303)
2009
36
G3139 (Genasense) in patients with advanced merkel cell carcinoma. (19307957)
2009
37
Patients with Merkel cell carcinoma tumors < or = 1.0 cm in diameter are unlikely to harbor regional lymph node metastasis. (19581538)
2009
38
Merkel cell carcinoma with an unusual immunohistochemical profile. (20007099)
2009
39
Merkel cell carcinoma with an unusual immunohistochemical profile. (22073365)
2009
40
Silent mutations in KIT and PDGFRA and coexpression of receptors with SCF and PDGFA in Merkel cell carcinoma: implications for tyrosine kinase-based tumorigenesis. (18084259)
2008
41
Merkel cell carcinoma in situ arising in a trichilemmal cyst: a case report and literature review. (18806489)
2008
42
Complete heart block and cardiac tamponade secondary to Merkel cell carcinoma cardiac metastases. (16466126)
2006
43
Combined effect of aloe-emodin and chemotherapeutic agents on the proliferation of an adherent variant cell line of Merkel cell carcinoma. (14654928)
2004
44
KIT receptor (CD117) expression in Merkel cell carcinoma. (14996126)
2004
45
CD56: a useful marker for diagnosing Merkel cell carcinoma. (12727026)
2003
46
Cutaneous undifferentiated small (Merkel) cell carcinoma, that developed synchronously with multiple actinic keratoses, squamous cell carcinomas and basal cell carcinoma. (12692363)
2003
47
Immunostaining for thyroid transcription factor 1 and cytokeratin 20 aids the distinction of small cell carcinoma from Merkel cell carcinoma, but not pulmonary from extrapulmonary small cell carcinomas. (11175640)
2001
48
Diagnostic relevance of chromosomal in-situ hybridization in Merkel cell carcinoma: targeted interphase cytogenetic tumour analyses. (10064396)
1999
49
Merkel cells and Merkel cell carcinoma express the BCL-2 proto-oncogene. (8840159)
1996
50
CD44 expression in Merkel cell carcinoma may correlate with risk of metastasis. (7514617)
1994

Variations for Merkel Cell Carcinoma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Merkel Cell Carcinoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1SDHDNM_003002.3(SDHD): c.149A> G (p.His50Arg)single nucleotide variantLikely benign, Pathogenic, Uncertain significancers11214077GRCh37Chr 11, 111958677: 111958677

Expression for genes affiliated with Merkel Cell Carcinoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Merkel Cell Carcinoma

Search GEO for disease gene expression data for Merkel Cell Carcinoma.

Pathways for genes affiliated with Merkel Cell Carcinoma

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51PathCards, 13EMD Millipore
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Pathways related to Merkel Cell Carcinoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ASCL1, ATOH1

Compounds for genes affiliated with Merkel Cell Carcinoma

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46Novoseek, 3BitterDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris Bioscience
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Compounds related to Merkel Cell Carcinoma according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1chloroquine46 3 52 30 1213.7KIT, SYP
2mucicarmine469.2SYP, NKX2-1, KRT20
3b 723469.2SYP, NKX2-1, KRT20
4ribonucleic acid468.9NKX2-1, KIT, KRT20
5hematoxylin468.8KRT20, KIT, NKX2-1, SYP
6formaldehyde46 259.8KRT20, KIT, NKX2-1, SYP
7paraffin468.7SYP, NKX2-1, KIT, KRT20
8progesterone46 30 62 25 1212.6KRT20, KIT, NKX2-1, SYP
9retinoic acid46 259.6ASCL1, SYP, NKX2-1, KIT
10estrogen468.4KRT20, KIT, NKX2-1, SYP
11serine468.3MMP10, MST1, SYP, NKX2-1, KIT
12vegf467.9KRT20, KIT, SYP, MST1, MMP10
13tyrosine467.6ASCL1, MST1, SYP, NKX2-1, KIT, KRT20

GO Terms for genes affiliated with Merkel Cell Carcinoma

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17Gene Ontology
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Biological processes related to Merkel Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cerebral cortex GABAergic interneuron differentiationGO:0218929.8NKX2-1, ASCL1
2positive regulation of Notch signaling pathwayGO:0457479.6ASCL1, KIT
3positive regulation of neuron differentiationGO:0456669.5ASCL1, ATOH1
4cerebral cortex developmentGO:0219879.4ASCL1, ATOH1
5inner ear morphogenesisGO:0424729.3POU4F3, ATOH1
6neuron migrationGO:0017649.2NKX2-1, ASCL1, ATOH1

Molecular functions related to Merkel Cell Carcinoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037008.8NKX2-1, ASCL1, POU4F3, ATOH1
2sequence-specific DNA bindingGO:0435658.5NKX2-1, ASCL1, POU4F3, ATOH1

Products for genes affiliated with Merkel Cell Carcinoma

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  • Antibodies
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Sources for Merkel Cell Carcinoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet