MCID: SPT022
MIFTS: 36

Spitzoid Melanoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Spitzoid Melanoma

MalaCards integrated aliases for Spitzoid Melanoma:

Name: Spitzoid Melanoma 12 15
Atypical Spitz Nevus 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070326
NCIt 50 C136825

Summaries for Spitzoid Melanoma

Disease Ontology : 12 A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.

MalaCards based summary : Spitzoid Melanoma, also known as atypical spitz nevus, is related to spitz nevus and li-fraumeni syndrome. An important gene associated with Spitzoid Melanoma is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include lymph node, thyroid and skin, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Spitzoid Melanoma

Diseases related to Spitzoid Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 165)
# Related Disease Score Top Affiliating Genes
1 spitz nevus 31.3 HRAS CDKN2A BRAF
2 li-fraumeni syndrome 29.7 TERT HRAS CDKN2A
3 melanoma 29.7 TERT NRAS MLANA HRAS GNAQ GNA11
4 nodular malignant melanoma 29.4 NRAS MLANA HRAS GNAQ GNA11 CDKN2A
5 skin melanoma 27.7 TERT RREB1 ROS1 NTRK1 NRAS MLANA
6 melphalan allergy 10.4 NRAS BRAF
7 mucinous lung adenocarcinoma 10.3 ROS1 HRAS
8 trachea carcinoma in situ 10.3 HRAS CDKN2A
9 adenosquamous lung carcinoma 10.3 HRAS ALK
10 occipital lobe neoplasm 10.3 ROS1 ALK
11 struma ovarii 10.3 RET BRAF
12 paronychia 10.3 HRAS ALK
13 perinephritis 10.3 ROS1 ALK
14 squamous cell papilloma 10.3 HRAS CDKN2A
15 acneiform dermatitis 10.3 NRAS HRAS BRAF
16 parameningeal embryonal rhabdomyosarcoma 10.2 NRAS ALK
17 adult malignant schwannoma 10.2 HRAS CDKN2A
18 lung carcinoma in situ 10.2 HRAS ALK
19 core binding factor acute myeloid leukemia 10.2 NRAS HRAS
20 malignant exocrine pancreas neoplasm 10.2 HRAS CDKN2A
21 maxillary sinus benign neoplasm 10.2 CDKN2A ALK
22 thyroid cancer, nonmedullary, 2 10.2 NRAS HRAS BRAF
23 phakomatosis cesioflammea 10.2 GNAQ GNA11
24 oculoectodermal syndrome 10.2 NRAS HRAS
25 pulmonary adenocarcinoma in situ 10.2 HRAS ALK
26 inflammatory liposarcoma 10.2 CDKN2A ALK
27 serous cystadenocarcinoma 10.2 NRAS HRAS BRAF
28 cystadenocarcinoma 10.2 NRAS HRAS BRAF
29 malignant struma ovarii 10.2 RET NRAS
30 large intestine adenocarcinoma 10.2 NRAS HRAS
31 multiple mucosal neuroma 10.2 RET NTRK1
32 testicular spermatocytic seminoma 10.2 RET HRAS
33 cardiofaciocutaneous syndrome 1 10.2 NRAS HRAS BRAF
34 ovarian serous cystadenocarcinoma 10.2 NRAS HRAS BRAF
35 lip and oral cavity cancer 10.2 HRAS CDKN2A BRAF
36 ovarian melanoma 10.2 NRAS MLANA
37 histiocytosis 10.2 NRAS BRAF ALK
38 skin squamous cell carcinoma 10.2 HRAS CDKN2A BRAF
39 solid adenocarcinoma with mucin production 10.2 ROS1 RET
40 ovary adenocarcinoma 10.2 HRAS CDKN2A BRAF
41 vulvar disease 10.2 NRAS HRAS CDKN2A
42 sarcomatoid transitional cell carcinoma 10.2 MLANA ALK
43 sensory organ benign neoplasm 10.2 NRAS MLANA
44 melanocytic nevus syndrome, congenital 10.2 NRAS HRAS
45 thyroid carcinoma 10.1 RET NTRK1 BRAF
46 suppression of tumorigenicity 12 10.1 HRAS CDKN2A BRAF
47 anal canal paget's disease 10.1 MLANA CDKN2A
48 nodular goiter 10.1 RET HRAS BRAF
49 papillary carcinoma 10.1 RET NTRK1 BRAF
50 hypocalciuric hypercalcemia, familial, type ii 10.1 GNAQ GNA11

Graphical network of the top 20 diseases related to Spitzoid Melanoma:



Diseases related to Spitzoid Melanoma

Symptoms & Phenotypes for Spitzoid Melanoma

GenomeRNAi Phenotypes related to Spitzoid Melanoma according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.05 HRAS BRAF
2 Decreased viability GR00055-A-2 10.05 HRAS BRAF
3 Decreased viability GR00221-A-1 10.05 CDKN2A HRAS NRAS ALK RET ROS1
4 Decreased viability GR00221-A-2 10.05 HRAS NTRK3 RET ROS1
5 Decreased viability GR00221-A-3 10.05 CDKN2A HRAS NRAS NTRK1
6 Decreased viability GR00221-A-4 10.05 CDKN2A ALK BRAF NTRK3 RET
7 Decreased viability GR00249-S 10.05 NTRK1 ALK BRAF ROS1
8 Decreased viability GR00301-A 10.05 NTRK1 BRAF RET
9 Decreased viability GR00342-S-1 10.05 ROS1
10 Decreased viability GR00381-A-1 10.05 BRAF
11 Decreased viability GR00402-S-2 10.05 RET

MGI Mouse Phenotypes related to Spitzoid Melanoma:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.29 ALK BRAF CDKN2A GNA11 GNAQ HRAS
2 mortality/aging MP:0010768 10.23 ALK BRAF CDKN2A GNA11 GNAQ HRAS
3 endocrine/exocrine gland MP:0005379 10.18 ALK BRAF CDKN2A GNA11 GNAQ HRAS
4 integument MP:0010771 10.15 ALK BRAF CDKN2A GNA11 GNAQ HRAS
5 nervous system MP:0003631 10.11 ALK BRAF CDKN2A GNA11 GNAQ HRAS
6 muscle MP:0005369 10.03 BRAF CDKN2A GNA11 GNAQ HRAS NTRK1
7 no phenotypic analysis MP:0003012 9.97 CDKN2A HRAS MLANA NRAS NTRK1 NTRK3
8 normal MP:0002873 9.96 ALK BRAF GNA11 GNAQ HRAS NRAS
9 limbs/digits/tail MP:0005371 9.95 BRAF GNA11 GNAQ NRAS NTRK1 RET
10 neoplasm MP:0002006 9.95 ALK BRAF CDKN2A HRAS NRAS RET
11 pigmentation MP:0001186 9.76 ALK BRAF CDKN2A GNA11 GNAQ MLANA
12 respiratory system MP:0005388 9.61 ALK BRAF CDKN2A GNA11 GNAQ HRAS
13 skeleton MP:0005390 9.28 ALK BRAF CDKN2A GNA11 GNAQ HRAS

Drugs & Therapeutics for Spitzoid Melanoma

Search Clinical Trials , NIH Clinical Center for Spitzoid Melanoma

Genetic Tests for Spitzoid Melanoma

Anatomical Context for Spitzoid Melanoma

MalaCards organs/tissues related to Spitzoid Melanoma:

40
Lymph Node, Thyroid, Skin, Pituitary

Publications for Spitzoid Melanoma

Articles related to Spitzoid Melanoma:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Different expression of BRAFV600E, ALK and PD-L1 in melanoma in children and adolescents: a nationwide retrospective study in Finland in 1990-2014. 61
32815748 2021
2
NTRK gene fusions in melanoma: detection, prevalence and potential therapeutic implications. 61
32656925 2020
3
PRAME expression in melanocytic proliferations with intermediate histopathologic or spitzoid features. 61
32700786 2020
4
A retrospective multicenter study of fatal pediatric melanoma. 61
32622142 2020
5
A sixteen-year single-center retrospective chart review of Spitz nevi and spitzoid neoplasms in pediatric patients. 61
32857447 2020
6
Giant lung metastasis of NRAS-mutant melanoma in a 24-year-old patient with a history of BRAF-mutant conventional melanoma harboring Spitzoid morphology: a case report. 61
33100226 2020
7
Metastatic PRAME-Expressing Juvenile Spitzoid Melanoma on the Buttock. 61
33082761 2020
8
A Rare Case of Solitary Pituitary Metastasis From Spitzoid Melanoma Detected by FDG PET/CT. 61
32657865 2020
9
TERT and TERT promoter in melanocytic neoplasms: Current concepts in pathogenesis, diagnosis, and prognosis. 61
32202662 2020
10
Without Missing a Beat: Absence of Cilia Informs the Diagnosis of Histopathologically Challenging Spitzoid Melanocytic Neoplasms. 61
32571497 2020
11
Ciliation Index Is a Useful Diagnostic Tool in Challenging Spitzoid Melanocytic Neoplasms. 61
31978411 2020
12
Complete response in anaplastic lymphoma kinase-rearranged oncocytic thyroid cancer: A case report and review of literature. 61
32821654 2020
13
Spitz melanoma is a distinct subset of spitzoid melanoma. 61
31900433 2020
14
Clinical and Dermoscopic Features Associated With Difficult-to-Recognize Variants of Cutaneous Melanoma: A Systematic Review. 61
32101255 2020
15
Spitz Tumors With ROS1 Fusions: A Clinicopathological Study of 6 Cases, Including FISH for Chromosomal Copy Number Alterations and Mutation Analysis Using Next-Generation Sequencing. 61
31361613 2020
16
A Case of Adjacent, Clonally Distinct Borderline Melanocytic Tumors on the Arm. 61
31268925 2020
17
Spitzoid cutaneous melanoma is associated with favorable clinicopathological factors and outcome. 61
31012520 2019
18
Utility of p16-Ki-67-HMB45 score in sorting benign from malignant Spitz tumors. 61
31351802 2019
19
Paediatric melanoma: clinical update, genetic basis, and advances in diagnosis. 61
31204309 2019
20
Dermoscopy of Spitz/Reed naevi and management. 61
30762033 2019
21
The Amount of Melanin Influences p16 Loss in Spitzoid Melanocytic Lesions: Correlation With CDKN2A Status by FISH and MLPA. 61
29489509 2019
22
Nestin Expression in Spitzoid Lesions: An Immunohistochemical Characterization With Clinical and Dermoscopic Correlations. 61
30212379 2019
23
The large spectrum of Spitzoid tumors: a retrospective survival study. 61
28704985 2019
24
Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi. 61
30857967 2019
25
Clinical genome sequencing uncovers potentially targetable truncations and fusions of MAP3K8 in spitzoid and other melanomas. 61
30833747 2019
26
Activating Structural Alterations in MAPK Genes Are Distinct Genetic Drivers in a Unique Subgroup Of Spitzoid Neoplasms. 61
30640733 2019
27
Spitzoid melanoma with histopathological features of ALK gene rearrangement exhibiting ALK copy number gain: a novel mechanism of ALK activation in spitzoid neoplasia. 61
29897634 2019
28
Plexiform Atypical Spitz Tumor With Rosette-Like Giant Cells: A Histologic and Immunohistochemical Study on a Case Suggesting Ganglioneuroblastic Differentiation: Review of the Literature and Considerations on Histogenesis. 61
29771688 2018
29
The role of routine imaging in pediatric cutaneous melanoma. 61
30124237 2018
30
Clinicopathologically problematic melanocytic tumors: a case-based review. 61
30479862 2018
31
Agminated Spitz naevi or metastatic spitzoid melanoma? 61
29405264 2018
32
The limitations of dermoscopy: false-positive and false-negative tumours. 61
29314288 2018
33
An update on molecular alterations in melanocytic tumors with emphasis on Spitzoid lesions. 61
30069451 2018
34
Contrasting features of childhood and adolescent melanomas. 61
29569376 2018
35
The difficulty in interpreting gene expression profiling in BAP-negative melanocytic tumors. 61
29752733 2018
36
Reevaluation of established and new criteria in differential diagnosis of Spitz nevus and melanoma. 61
29417221 2018
37
Parallel ridge dermoscopic pattern in plantar atypical Spitz nevus. 61
28862772 2018
38
Common and not so Common Melanocytic Lesions in Children and Adolescents. 61
29607755 2018
39
Update on dermoscopy of Spitz/Reed naevi and management guidelines by the International Dermoscopy Society. 61
28118479 2017
40
Spitz Tumors of the Skin. 61
28477881 2017
41
The diagnosis and management of the Spitz nevus in the pediatric population: a systematic review and meta-analysis protocol. 61
28407793 2017
42
[Congenital nevus, atypical spitz nevus or spitzoid melanoma?] 61
28102445 2017
43
A Comparison of Morphologic and Molecular Features of BRAF, ALK, and NTRK1 Fusion Spitzoid Neoplasms. 61
27776007 2017
44
A review of kinase fusions in melanocytic tumors. 61
27892929 2017
45
Classification of Indeterminate Melanocytic Lesions by MicroRNA Profiling. 61
27469124 2017
46
The utilization of spitz-related nomenclature in the histological interpretation of cutaneous melanocytic lesions by practicing pathologists: results from the M-Path study. 61
27686456 2017
47
Spitz nevi: diverse clinical, dermatoscopic and histopathological features in childhood. 61
27860221 2017
48
Self-detection frequency and recognition patterns in medium to high-risk cutaneous melanoma patients. 61
28140538 2017
49
Imaging mass spectrometry assists in the classification of diagnostically challenging atypical Spitzoid neoplasms. 61
27502312 2016
50
Loss of p16 expression and copy number changes of CDKN2A in a spectrum of spitzoid melanocytic lesions. 61
27569296 2016

Variations for Spitzoid Melanoma

Expression for Spitzoid Melanoma

Search GEO for disease gene expression data for Spitzoid Melanoma.

Pathways for Spitzoid Melanoma

Pathways related to Spitzoid Melanoma according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
2
Show member pathways
13.66 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
3
Show member pathways
13.62 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
4
Show member pathways
13.53 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
5
Show member pathways
13.51 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
6
Show member pathways
13.39 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
7
Show member pathways
13.3 ROS1 NTRK3 NTRK1 NRAS HRAS GNA11
8
Show member pathways
13.24 ROS1 NTRK3 NTRK1 NRAS HRAS BRAF
9
Show member pathways
13.06 NTRK3 NTRK1 NRAS HRAS GNA11 BRAF
10
Show member pathways
13.04 NTRK3 NTRK1 NRAS HRAS GNA11 ALK
11
Show member pathways
13 NRAS HRAS GNA11 CDKN2A BRAF
12
Show member pathways
12.94 ROS1 NTRK3 NTRK1 GNA11 ALK
13
Show member pathways
12.92 NRAS HRAS GNAQ GNA11 CDKN2A
14
Show member pathways
12.87 NRAS HRAS GNAQ GNA11 BRAF
15
Show member pathways
12.85 NRAS HRAS GNAQ GNA11 CDKN2A BRAF
16
Show member pathways
12.81 NRAS HRAS GNAQ GNA11 BRAF
17
Show member pathways
12.81 NTRK3 NTRK1 NRAS HRAS GNA11 BRAF
18
Show member pathways
12.75 TERT NRAS HRAS CDKN2A BRAF
19
Show member pathways
12.73 NTRK1 NRAS HRAS GNAQ BRAF
20
Show member pathways
12.71 NTRK3 NTRK1 NRAS HRAS BRAF
21
Show member pathways
12.69 TPM3 RET NTRK1 NRAS HRAS CDKN2A
22
Show member pathways
12.6 NTRK1 NRAS HRAS GNAQ GNA11
23 12.56 RET NTRK3 NTRK1 GNAQ GNA11
24
Show member pathways
12.54 RET NRAS HRAS CDKN2A BRAF ALK
25
Show member pathways
12.44 NTRK3 NTRK1 NRAS HRAS
26
Show member pathways
12.43 NRAS HRAS GNAQ GNA11 BRAF
27 12.34 TERT NRAS HRAS CDKN2A
29 12.31 RET NTRK3 NTRK1 GNAQ GNA11
30
Show member pathways
12.21 NTRK3 NTRK1 NRAS HRAS BRAF
31
Show member pathways
12.21 ROS1 NTRK3 NTRK1 NRAS HRAS BRAF
32
Show member pathways
12.13 NTRK1 NRAS HRAS BRAF
33 12.11 ROS1 RET NTRK1 ALK
34 12.09 TPM3 TERT RET NTRK1 NRAS HRAS
35
Show member pathways
12.06 NRAS HRAS GNAQ GNA11
36
Show member pathways
12.01 HRAS GNAQ GNA11 BRAF
37
Show member pathways
11.99 HRAS GNAQ GNA11
38 11.98 NRAS HRAS GNAQ
39 11.97 NRAS HRAS CDKN2A
40 11.95 NRAS HRAS GNAQ BRAF
41 11.93 HRAS CDKN2A BRAF
42 11.93 GNAQ GNA11 BRAF
43 11.92 NRAS HRAS GNAQ BRAF
44 11.9 NRAS HRAS CDKN2A BRAF
45
Show member pathways
11.89 NRAS HRAS GNAQ BRAF
46 11.86 GNAQ GNA11 BRAF
47 11.76 NRAS HRAS GNAQ GNA11
48 11.74 NRAS HRAS BRAF
49 11.71 HRAS GNAQ BRAF
50
Show member pathways
11.71 RET NRAS HRAS BRAF

GO Terms for Spitzoid Melanoma

Cellular components related to Spitzoid Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 TERT ROS1 RET NTRK3 NTRK1 NRAS
2 receptor complex GO:0043235 9.02 ROS1 RET NTRK3 NTRK1 ALK

Biological processes related to Spitzoid Melanoma according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.14 ROS1 RET NRAS HRAS GNAQ GNA11
2 multicellular organism development GO:0007275 10.07 RREB1 ROS1 RET NTRK3 NTRK1 ALK
3 positive regulation of gene expression GO:0010628 9.92 RET NTRK3 HRAS CDKN2A BRAF
4 protein phosphorylation GO:0006468 9.88 ROS1 RET NTRK3 NTRK1 BRAF ALK
5 MAPK cascade GO:0000165 9.87 RET NRAS HRAS BRAF
6 positive regulation of neuron projection development GO:0010976 9.81 RET NTRK3 NTRK1
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.8 NTRK3 NTRK1 HRAS BRAF
8 phosphorylation GO:0016310 9.8 ROS1 RET NTRK3 NTRK1 CDKN2A BRAF
9 activation of MAPK activity GO:0000187 9.79 RET NTRK3 ALK
10 ephrin receptor signaling pathway GO:0048013 9.73 NTRK3 NTRK1 HRAS
11 negative regulation of neuron apoptotic process GO:0043524 9.73 TERT NTRK1 HRAS BRAF
12 positive regulation of MAPK cascade GO:0043410 9.67 RET NTRK3 NTRK1 HRAS
13 cellular response to nerve growth factor stimulus GO:1990090 9.65 NTRK3 NTRK1 BRAF
14 positive regulation of actin cytoskeleton reorganization GO:2000251 9.63 NTRK3 HRAS
15 innervation GO:0060384 9.62 RET NTRK1
16 action potential GO:0001508 9.62 GNAQ GNA11
17 Ras protein signal transduction GO:0007265 9.62 RREB1 NRAS HRAS CDKN2A
18 regulation of protein kinase B signaling GO:0051896 9.61 NTRK3 NTRK1
19 replicative senescence GO:0090399 9.6 TERT CDKN2A
20 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.58 GNAQ GNA11
21 positive regulation of phospholipase C activity GO:0010863 9.58 NTRK3 HRAS
22 phototransduction, visible light GO:0007603 9.55 GNAQ GNA11
23 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.55 ROS1 RET NTRK3 NTRK1 ALK
24 entrainment of circadian clock GO:0009649 9.51 GNAQ GNA11
25 neurotrophin signaling pathway GO:0038179 9.46 NTRK3 NTRK1
26 positive regulation of kinase activity GO:0033674 9.35 ROS1 RET NTRK3 NTRK1 ALK
27 peptidyl-tyrosine phosphorylation GO:0018108 9.1 ROS1 RET NTRK3 NTRK1 BRAF ALK

Molecular functions related to Spitzoid Melanoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.05 TERT ROS1 RET NTRK3 NTRK1 BRAF
2 nucleotide binding GO:0000166 9.85 ROS1 RET NTRK3 NTRK1 NRAS HRAS
3 protein kinase activity GO:0004672 9.8 ROS1 RET NTRK3 NTRK1 BRAF ALK
4 kinase activity GO:0016301 9.8 ROS1 RET NTRK3 NTRK1 CDKN2A BRAF
5 GTPase activity GO:0003924 9.78 NRAS HRAS GNAQ GNA11
6 G-protein beta/gamma-subunit complex binding GO:0031683 9.52 GNAQ GNA11
7 guanyl nucleotide binding GO:0019001 9.49 GNAQ GNA11
8 GPI-linked ephrin receptor activity GO:0005004 9.46 NTRK3 NTRK1
9 type 2A serotonin receptor binding GO:0031826 9.43 GNAQ GNA11
10 neurotrophin binding GO:0043121 9.4 NTRK3 NTRK1
11 neurotrophin receptor activity GO:0005030 9.37 NTRK3 NTRK1
12 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.35 ROS1 RET NTRK3 NTRK1 ALK
13 protein tyrosine kinase activity GO:0004713 9.1 ROS1 RET NTRK3 NTRK1 BRAF ALK

Sources for Spitzoid Melanoma

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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