AFH
MCID: HST022
MIFTS: 27

Histiocytoma, Angiomatoid Fibrous (AFH)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Histiocytoma, Angiomatoid Fibrous

MalaCards integrated aliases for Histiocytoma, Angiomatoid Fibrous:

Name: Histiocytoma, Angiomatoid Fibrous 57 71
Angiomatoid Fibrous Histiocytoma 58 73 29 39
Histiocytoma, Angiomatoid Fibrous, Somatic 57 13
Afh 58 73

Characteristics:

HPO:

31
histiocytoma, angiomatoid fibrous:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 612160
MeSH 44 D051677
Orphanet 58 ORPHA569164
MedGen 41 C1266127
SNOMED-CT via HPO 68 124975008 128741006 302843004
UMLS 71 C1266127

Summaries for Histiocytoma, Angiomatoid Fibrous

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 rare soft tissue tumor. An important gene associated with Histiocytoma, Angiomatoid Fibrous is CREB1 (CAMP Responsive Element Binding Protein 1). Affiliated tissues include lymph node, bone and skin, and related phenotype is histiocytoma.

Wikipedia : 74 Angiomatoid fibrous histiocytoma (AFH), is a rare soft tissue cancer that affects children and young... more...

More information from OMIM: 612160

Related Diseases for Histiocytoma, Angiomatoid Fibrous

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 fibrous histiocytoma 11.2
2 rare soft tissue tumor 10.8
3 malignant fibrous histiocytoma 10.6
4 rare tumor 10.6
5 meningioma, familial 10.5
6 spinal meningioma 10.5
7 mesenchymal cell neoplasm 10.5
8 secretory meningioma 10.5
9 lymphoplasmacyte-rich meningioma 10.5
10 clear cell sarcoma 10.5
11 kaposi sarcoma 10.4
12 sarcoma 10.4
13 hemangioma 10.4
14 spindle cell sarcoma 10.4
15 inflammatory myofibroblastic tumor 10.4
16 melanoma 10.4
17 myoepithelioma 10.4
18 soft tissue sarcoma 10.4
19 lymphoma, hodgkin, classic 10.3
20 ewing sarcoma 10.3
21 myxoid liposarcoma 10.3
22 neurilemmoma 10.3
23 liposarcoma 10.3
24 cutaneous fibrous histiocytoma 10.3
25 migraine with or without aura 1 10.1
26 storage pool platelet disease 10.1
27 chondrosarcoma 10.1
28 osteogenic sarcoma 10.1
29 sarcoma, synovial 10.1
30 leukemia, acute myeloid 10.1
31 lymphoma, non-hodgkin, familial 10.1
32 aneurysmal bone cysts 10.1
33 chondrosarcoma, extraskeletal myxoid 10.1
34 membranous nephropathy 10.1
35 proteinuria, chronic benign 10.1
36 angiosarcoma 10.1
37 fibroma 10.1
38 lymphoma 10.1
39 castleman disease 10.1
40 migraine with aura 10.1
41 pulmonary edema 10.1
42 nephrotic syndrome 10.1
43 vascular disease 10.1
44 testicular cancer 10.1
45 granuloma annulare 10.1
46 sarcomatoid carcinoma 10.1
47 extraosseous chondrosarcoma 10.1
48 perineurioma 10.1
49 rhabdoid meningioma 10.1
50 myxoid chondrosarcoma 10.1

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



Diseases related to Histiocytoma, Angiomatoid Fibrous

Symptoms & Phenotypes for Histiocytoma, Angiomatoid Fibrous

Human phenotypes related to Histiocytoma, Angiomatoid Fibrous:

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

Clinical features from OMIM®:

612160 (Updated 05-Mar-2021)

Drugs & Therapeutics for Histiocytoma, Angiomatoid Fibrous

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

Genetic Tests for Histiocytoma, Angiomatoid Fibrous

Genetic tests related to Histiocytoma, Angiomatoid Fibrous:

# Genetic test Affiliating Genes
1 Angiomatoid Fibrous Histiocytoma 29 CREB1

Anatomical Context for Histiocytoma, Angiomatoid Fibrous

MalaCards organs/tissues related to Histiocytoma, Angiomatoid Fibrous:

40
Lymph Node, Bone, Skin, Lung, Brain

Publications for Histiocytoma, Angiomatoid Fibrous

Articles related to Histiocytoma, Angiomatoid Fibrous:

(show top 50) (show all 164)
# Title Authors PMID Year
1
EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. 57 61
17724745 2007
2
Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma. 61 57
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. 57 61
11063792 2000
4
Angiomatoid malignant fibrous histiocytoma: a distinct fibrohistiocytic tumor of children and young adults simulating a vascular neoplasm. 57
228836 1979
5
Distinct clinicopathological features of pulmonary primary angiomatoid fibrous histiocytoma: A report of four new cases and review of the literature. 61
33314685 2021
6
Angiomatoid fibrous histiocytoma with Castleman disease: A case report. 61
32672859 2021
7
Cytological diagnosis of angiomatoid fibrous histiocytoma: Report of a case and review of literature. 61
32749779 2021
8
PD-L1 expression in angiomatoid fibrous histiocytoma. 61
33500467 2021
9
Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma. 61
33432531 2021
10
FISH for EWSR1 in Ewing's sarcoma family of tumors: Experience from a tertiary care cancer center. 61
33433416 2021
11
Angiomatoid fibrous histiocytoma in the spinal canal of T3-T4: a case report and literature review. 61
33284054 2020
12
EWSR1-CREM fusion in pulmonary mesenchymal neoplasm showing distinctive clear cell morphology. 61
33002291 2020
13
Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion. 61
33080563 2020
14
EWSR1/FUS-CREB fusions define a distinctive malignant epithelioid neoplasm with predilection for mesothelial-lined cavities. 61
32770123 2020
15
Adult Intracranial Myxoid Mesenchymal Tumor with EWSR1-ATF1 Gene Fusion. 61
32683005 2020
16
Primary Intracranial Angiomatoid Fibrous Histiocytoma: Two Case Reports and Literature Review. 61
32777394 2020
17
Silent Angiomatoid Fibrous Histiocytoma of the Chest Wall. 61
33159863 2020
18
Broadening the Age of Incidence of Intracranial Angiomatoid Fibrous Histiocytoma With EWSR1-CREM Fusion: A Case Report. 61
33085975 2020
19
Primary Pulmonary Myxoid Sarcoma and Myxoid Angiomatoid Fibrous Histiocytoma: A Unifying Continuum With Shared and Distinct Features. 61
32773530 2020
20
Intracranial mesenchymal tumor with FET-CREB fusion-A unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms. 61
33141488 2020
21
TLE-1 immunoreactivity in angiomatoid fibrous histiocytoma: a potential diagnostic pitfall. 61
32819737 2020
22
MUC4 Expression in Angiomatoid Fibrous Histiocytoma. 61
31652145 2020
23
Angiomatoid Fibrous Histiocytoma With ALK Expression in an Unusual Location and Age Group. 61
32310859 2020
24
SOX9 Immunohistochemistry in the Distinction of Angiomatoid Fibrous Histiocytoma From Histologic Mimics: Diagnostic Utility and Pitfalls. 61
31567275 2020
25
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
26
Myxoid mesenchymal intraventricular brain tumour with EWSR1-CREB1 gene fusion in an adult woman. 61
32632473 2020
27
Tocilizumab for the treatment of paraneoplastic inflammatory syndrome associated with angiomatoid fibrous histiocytoma. 61
32546510 2020
28
Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 gene fusion: a case report and literature review. 61
32215804 2020
29
Intracranial Myxoid Mesenchymal Tumor With EWSR1-ATF1 Fusion. 61
32016322 2020
30
[Clinicopathologic and molecular characteristics of myxoid angiomatoid fibrous histiocytoma]. 61
32023767 2020
31
Cranial angiomatoid fibrous histiocytoma: A case report and review of literature. 61
33093972 2020
32
Expanding the Phenotypic Spectrum of Mesenchymal Tumors Harboring the EWSR1-CREM Fusion. 61
31305268 2019
33
Posterior retroperitoneoscopic adrenalectomy for pediatric adrenal tumors. 61
30878147 2019
34
Small soft tissue masses indeterminate at imaging: histological diagnoses at a tertiary orthopedic oncology clinic. 61
30903259 2019
35
Primary Adrenal Angiomatoid Fibrous Histiocytoma With Novel EWSR1-ATF1 Gene Fusion Exon-Exon Breakpoint. 61
30823861 2019
36
Angiomatoid Fibrous Histiocytoma Mimicking Eosinophilic Granuloma in a Pediatric Patient. 61
31233924 2019
37
A case of childhood intracerebral angiomatoid fibrous histiocytoma radiologically mimicking infection and with unusual immunopositivity for placental alkaline phosphatase. 61
30990406 2019
38
ALK Expression in Angiomatoid Fibrous Histiocytoma: Confirmation of the Findings of Cheah et al. 61
31021856 2019
39
Paraneoplastic disorders associated with miscellaneous neoplasms with focus on selected soft tissue and Undifferentiated/ rhabdoid malignancies. 61
30819530 2019
40
Intracranial Angiomatoid Fibrous Histiocytoma with EWSR1-CREB Family Fusions: A Report of 2 Pediatric Cases. 61
30831299 2019
41
Intracranial angiomatoid fibrous histiocytoma with Hodgkin lymphoma. 61
31256181 2019
42
Difficult diagnosis of Angiomatoid Fibrous Histiocytoma of the leg mimicking a benign condition. 61
31565180 2019
43
Intracranial Myxoid Variant of Angiomatoid Fibrous Histiocytoma: A Case Report and Literature Review. 61
31139520 2019
44
Hybrid bronchoscopic and surgical resection of endotracheal angiomatoid fibrous histiocytoma. 61
30819218 2019
45
TLE-1-Positive Angiomatoid Fibrous Histiocytoma Mimicking Synovial Sarcoma. 61
28248724 2019
46
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
47
ALK Expression in Angiomatoid Fibrous Histiocytoma: A Potential Diagnostic Pitfall. 61
29877921 2019
48
Atypical central neurocytoma with novel EWSR1-ATF1 fusion and MUTYH mutation detected by next-generation sequencing. 61
30642852 2019
49
EWSR1-NFATC2 and FUS-NFATC2 Gene Fusion-Associated Mesenchymal Tumors: Clinicopathologic Correlation and Literature Review. 61
31049020 2019
50
[Angiomatoid fibrous histiocytoma of the radial pulse groove]. 61
30293890 2018

Variations for Histiocytoma, Angiomatoid Fibrous

Expression for Histiocytoma, Angiomatoid Fibrous

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

Pathways for Histiocytoma, Angiomatoid Fibrous

GO Terms for Histiocytoma, Angiomatoid Fibrous

Sources for Histiocytoma, Angiomatoid Fibrous

3 CDC
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45 MESH via Orphanet
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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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