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AFH
MCID: HST022
MIFTS: 28

Histiocytoma, Angiomatoid Fibrous (AFH)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Histiocytoma, Angiomatoid Fibrous

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MalaCards integrated aliases for Histiocytoma, Angiomatoid Fibrous:

Name: Histiocytoma, Angiomatoid Fibrous 56 71
Angiomatoid Fibrous Histiocytoma 58 73 29 39
Histiocytoma, Angiomatoid Fibrous, Somatic 56 13
Afh 58 73

Characteristics:

HPO:

31
histiocytoma, angiomatoid fibrous:
Inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 612160
MeSH 43 D051677
Orphanet 58 ORPHA569164
MedGen 41 C1266127
SNOMED-CT via HPO 68 124975008 128741006 302843004
UMLS 71 C1266127
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Summaries for Histiocytoma, Angiomatoid Fibrous

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UniProtKB/Swiss-Prot : 73 Angiomatoid fibrous histiocytoma: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis.

MalaCards based summary : Histiocytoma, Angiomatoid Fibrous, also known as angiomatoid fibrous histiocytoma, is related to fibrous histiocytoma and sarcoma. An important gene associated with Histiocytoma, Angiomatoid Fibrous is CREB1 (CAMP Responsive Element Binding Protein 1). Affiliated tissues include lymph node, skin and bone, and related phenotype is histiocytoma.

Wikipedia : 74 Angiomatoid fibrous histiocytoma, abbreviated AFH, is a rarely metastasizing tumour that affects... more...

More information from OMIM: 612160
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Related Diseases for Histiocytoma, Angiomatoid Fibrous

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Diseases related to Histiocytoma, Angiomatoid Fibrous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 fibrous histiocytoma 30.2 DES CREB1
2 sarcoma 29.6 DES CREB1
3 rare tumor 10.6
4 mesenchymal cell neoplasm 10.5
5 clear cell sarcoma 10.5
6 kaposi sarcoma 10.5
7 meningioma, radiation-induced 10.5
8 meningioma, familial 10.5
9 spinal meningioma 10.5
10 secretory meningioma 10.5
11 lymphoplasmacyte-rich meningioma 10.5
12 inflammatory myofibroblastic tumor 10.4
13 hemangioma 10.4
14 myoepithelioma 10.4
15 soft tissue sarcoma 10.4
16 lymphoma, hodgkin, classic 10.3
17 ewing sarcoma 10.3
18 myxoid liposarcoma 10.3
19 melanoma 10.3
20 neurilemmoma 10.3
21 liposarcoma 10.3
22 spindle cell sarcoma 10.3
23 cutaneous fibrous histiocytoma 10.3
24 haemophilus influenzae 10.3
25 migraine with or without aura 1 10.2
26 storage pool platelet disease 10.2
27 chondrosarcoma 10.2
28 osteogenic sarcoma 10.2
29 sarcoma, synovial 10.2
30 leukemia, acute myeloid 10.2
31 lymphoma, non-hodgkin, familial 10.2
32 aneurysmal bone cysts 10.2
33 chondrosarcoma, extraskeletal myxoid 10.2
34 membranous nephropathy 10.2
35 melanoma, cutaneous malignant 10 10.2
36 angiosarcoma 10.2
37 fibroma 10.2
38 lymphoma 10.2
39 migraine with aura 10.2
40 pulmonary edema 10.2
41 nephrotic syndrome 10.2
42 vascular disease 10.2
43 malignant fibrous histiocytoma 10.2
44 testicular cancer 10.2
45 granuloma annulare 10.2
46 spindle cell carcinoma 10.2
47 extraosseous chondrosarcoma 10.2
48 perineurioma 10.2
49 myxoid chondrosarcoma 10.2
50 follicular dendritic cell sarcoma 10.2

Graphical network of the top 20 diseases related to Histiocytoma, Angiomatoid Fibrous:



Diseases related to Histiocytoma, Angiomatoid Fibrous
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Symptoms & Phenotypes for Histiocytoma, Angiomatoid Fibrous

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Human phenotypes related to Histiocytoma, Angiomatoid Fibrous:

31
# Description HPO Frequency HPO Source Accession
1 histiocytoma 31 HP:0012315

Clinical features from OMIM:

612160
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Drugs & Therapeutics for Histiocytoma, Angiomatoid Fibrous

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Angiomatoid Fibrous Histiocytoma: a Single Institution Case-series Completed NCT03759327

Search NIH Clinical Center for Histiocytoma, Angiomatoid Fibrous

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Genetic Tests for Histiocytoma, Angiomatoid Fibrous

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Genetic tests related to Histiocytoma, Angiomatoid Fibrous:

# Genetic test Affiliating Genes
1 Angiomatoid Fibrous Histiocytoma 29 CREB1
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Anatomical Context for Histiocytoma, Angiomatoid Fibrous

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MalaCards organs/tissues related to Histiocytoma, Angiomatoid Fibrous:

40
Lymph Node, Skin, Bone, Lung, Adipocyte
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Publications for Histiocytoma, Angiomatoid Fibrous

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Articles related to Histiocytoma, Angiomatoid Fibrous:

(show top 50) (show all 145)
# Title Authors PMID Year
1
EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. 61 56
17724745 2007
2
Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. 61 56
15884099 2005
3
Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11. 61 56
11063792 2000
4
Angiomatoid malignant fibrous histiocytoma: a distinct fibrohistiocytic tumor of children and young adults simulating a vascular neoplasm. 56
228836 1979
5
Tocilizumab for the treatment of paraneoplastic inflammatory syndrome associated with angiomatoid fibrous histiocytoma. 61
32546510 2020
6
Metastatic aneurysmal fibrous histiocytoma in a 20-year-old woman: A rare case report with review of the literature and discussion of its genomic features. 61
32394451 2020
7
Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 gene fusion: a case report and literature review. 61
32215804 2020
8
Angiomatoid Fibrous Histiocytoma With ALK Expression in an Unusual Location and Age Group. 61
32310859 2020
9
Intracranial Myxoid Mesenchymal Tumor With EWSR1-ATF1 Fusion. 61
32016322 2020
10
[Clinicopathologic and molecular characteristics of myxoid angiomatoid fibrous histiocytoma]. 61
32023767 2020
11
Expanding the Phenotypic Spectrum of Mesenchymal Tumors Harboring the EWSR1-CREM Fusion. 61
31305268 2019
12
Posterior retroperitoneoscopic adrenalectomy for pediatric adrenal tumors. 61
30878147 2019
13
Small soft tissue masses indeterminate at imaging: histological diagnoses at a tertiary orthopedic oncology clinic. 61
30903259 2019
14
MUC4 Expression in Angiomatoid Fibrous Histiocytoma. 61
31652145 2019
15
Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel EWSR1-ATF1 Gene Fusion Exon-Exon Breakpoint. 61
30823861 2019
16
SOX9 Immunohistochemistry in the Distinction of Angiomatoid Fibrous Histiocytoma From Histologic Mimics: Diagnostic Utility and Pitfalls. 61
31567275 2019
17
A case of childhood intracerebral angiomatoid fibrous histiocytoma radiologically mimicking infection and with unusual immunopositivity for placental alkaline phosphatase. 61
30990406 2019
18
Angiomatoid Fibrous Histiocytoma Mimicking Eosinophilic Granuloma in a Pediatric Patient. 61
31233924 2019
19
ALK Expression in Angiomatoid Fibrous Histiocytoma: Confirmation of the Findings of Cheah et al. 61
31021856 2019
20
Paraneoplastic disorders associated with miscellaneous neoplasms with focus on selected soft tissue and Undifferentiated/ rhabdoid malignancies. 61
30819530 2019
21
Intracranial Angiomatoid Fibrous Histiocytoma with EWSR1-CREB Family Fusions: A Report of 2 Pediatric Cases. 61
30831299 2019
22
Intracranial angiomatoid fibrous histiocytoma with Hodgkin lymphoma. 61
31256181 2019
23
Difficult diagnosis of Angiomatoid Fibrous Histiocytoma of the leg mimicking a benign condition. 61
31565180 2019
24
Intracranial Myxoid Variant of Angiomatoid Fibrous Histiocytoma: A Case Report and Literature Review. 61
31139520 2019
25
Hybrid bronchoscopic and surgical resection of endotracheal angiomatoid fibrous histiocytoma. 61
30819218 2019
26
ALK Expression in Angiomatoid Fibrous Histiocytoma: A Potential Diagnostic Pitfall. 61
29877921 2019
27
TLE-1-Positive Angiomatoid Fibrous Histiocytoma Mimicking Synovial Sarcoma. 61
28248724 2019
28
EWSR1-NFATC2 and FUS-NFATC2 Gene Fusion-Associated Mesenchymal Tumors: Clinicopathologic Correlation and Literature Review. 61
31049020 2019
29
Intramammary Angiomatoid Fibrous Histiocytoma, a Rare EWSR1 Rearranged Mesenchymal Neoplasm in a Previously Unreported Anatomic Location with Review of the Cleveland Clinic Experience. 61
31236300 2019
30
Atypical central neurocytoma with novel EWSR1-ATF1 fusion and MUTYH mutation detected by next-generation sequencing. 61
30642852 2019
31
[Angiomatoid fibrous histiocytoma of the radial pulse groove]. 61
30293890 2018
32
Therapeutic response of metastatic angiomatoid fibrous histiocytoma carrying EWSR1-CREB1 fusion to the interleukin-6 receptor antibody tocilizumab. 61
29932283 2018
33
[Myxoid variant of angiomatoid fibrous histiocytoma: a clinicopathologic analysis of 3 cases]. 61
30220125 2018
34
Treatment of angiomatoid fibrous histiocytoma after unplanned excision: a case report. 61
30170609 2018
35
ESWR1-CREM Fusion in an Intracranial Myxoid Angiomatoid Fibrous Histiocytoma-Like Tumor: A Case Report and Literature Review. 61
29788195 2018
36
Retroperitoneal Angiomatoid Fibrous Histiocytoma Presenting as a Recurrent Spontaneous Retroperitoneal Hemorrhage in a 9-Year-Old Boy. 61
29432314 2018
37
A Case of Angiomatoid Fibrous Histiocytoma Presenting as Subcutaneous Nodule in a 4-Year-Old Girl. 61
29606824 2018
38
Primary intracranial angiomatoid fibrous histiocytoma: a case report and literature review. 61
29540076 2018
39
Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions: myxoid variant of angiomatoid fibrous histiocytoma or novel entity? 61
28281318 2018
40
The 2015 World Health Organization Classification of lung tumors: new entities since the 2004 Classification. 61
30259912 2018
41
Angiomatoid Fibrous Histiocytoma With Paraneoplastic Platelet Storage Pool Deficiency. 61
29472492 2018
42
Angiomatoid fibrous histiocytoma of the scalp mimicking cutaneous angiosarcoma in incisional biopsy containing CD31-positive histiocytes: A potential histopathological pitfall. 61
28370384 2018
43
Myxoid and reticular angiomatoid fibrous histiocytoma: a case confirmed by fluorescence in situ hybridization analysis for EWSR1 rearrangement. 61
31938448 2018
44
CORR Insights®: Pathologically Benign Lymph Nodes Can Mimic Malignancy on Imaging in Patients With Angiomatoid Fibrous Histiocytoma. 61
28656494 2017
45
Pathologically Benign Lymph Nodes Can Mimic Malignancy on Imaging in Patients With Angiomatoid Fibrous Histiocytoma. 61
28536856 2017
46
Angiomatoid fibrous histiocytoma: A case of local recurrence and metastases to loco-regional lymph nodes that responded to chemotherapy. 61
28012233 2017
47
EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location. 61
28009602 2017
48
Correlation of Classic and Molecular Cytogenetic Alterations in Soft-Tissue Sarcomas: Analysis of 46 Tumors With Emphasis on Adipocytic Tumors and Synovial Sarcoma. 61
26808135 2017
49
The spectrum of EWSR1-rearranged neoplasms at a tertiary sarcoma centre; assessing 772 tumour specimens and the value of current ancillary molecular diagnostic modalities. 61
28141799 2017
50
Complete deltoid resection in early childhood without muscle transfer results in normal shoulder function at long-term follow-up: a case report. 61
28086945 2017
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Variations for Histiocytoma, Angiomatoid Fibrous

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Expression for Histiocytoma, Angiomatoid Fibrous

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Search GEO for disease gene expression data for Histiocytoma, Angiomatoid Fibrous.
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Pathways for Histiocytoma, Angiomatoid Fibrous

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GO Terms for Histiocytoma, Angiomatoid Fibrous

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Molecular functions related to Histiocytoma, Angiomatoid Fibrous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 DES CREB1
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Sources for Histiocytoma, Angiomatoid Fibrous

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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