MCID: PLM032
MIFTS: 52

Pulmonary Blastoma malady

Respiratory diseases, Cancer diseases, Rare diseases categories

Aliases & Classifications for Pulmonary Blastoma

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Sources:
9Disease Ontology, 43Novoseek, 47Orphanet, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pulmonary Blastoma, Aliases & Descriptions:

Name: Pulmonary Blastoma 9 43 47 60
Blastoma of Lung 9
 
Pneumoblastoma 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
pulmonary blastoma:
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology9 DOID:4765
NCIt38 C3732
MeSH33 D018202
Orphanet47 64741
SNOMED-CT55 189815007, 43149009
MESH via Orphanet34 D018202
ICD10 via Orphanet26 C34
UMLS via Orphanet61 C0206629

Summaries for Pulmonary Blastoma

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Disease Ontology:9 An embryoma and malignant neoplasm of lung that derives from tissues of the lung and derives from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). it is most commonly effects children.

MalaCards based summary: Pulmonary Blastoma, also known as blastoma of lung, is related to sarcoma and melanoma, and has symptoms including hemoptysis, neoplasm of the lung and chest pain. An important gene associated with Pulmonary Blastoma is NKX2-1 (NK2 homeobox 1), and among its related pathways are Apoptotic cleavage of cellular proteins and Cell adhesion Endothelial cell contacts by junctional mechanisms. The compounds s 100 and panitumumab have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and fetal lung, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Related Diseases for Pulmonary Blastoma

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Diseases related to Pulmonary Blastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma29.8CGB, KRAS, VIM, TP53
2melanoma29.4TP53, VIM, NKX2-1, KRAS, CTNNB1, CGB
3adenocarcinoma28.8TP53, VIM, SYP, NKX2-1, KRAS, EGFR
4blastoma11.3
5classic pulmonary blastoma10.6
6pleuropulmonary blastoma10.5
7mismatch repair cancer syndrome10.5CTNNB1
8ovarian small cell carcinoma10.5TTF1
9superior vena cava syndrome10.5CGB
10subependymal giant cell astrocytoma10.5SYP
11melanotic neuroectodermal tumor10.5SYP
12pineoblastoma10.5SYP
13dysembryoplastic neuroepithelial tumor10.4SYP
14choroid plexus papilloma10.4TP53
15epithelial predominant pulmonary blastoma10.4
16pilocytic astrocytoma10.4SYP
17adenomatoid tumor10.4VIM
18giant cell glioblastoma10.3EGFR
19thymic carcinoma10.3SYP, NKX2-1
20merkel cell carcinoma10.3NKX2-1, SYP
21benign mesothelioma10.3TP53, NKX2-1
22tubular adenocarcinoma10.3SYP, CTNNB1
23spindle cell carcinoma10.3
24embryoma10.3
25pneumothorax10.3
26teratoma10.3CGB, NKX2-1
27neuroendocrine tumor10.3SYP, NKX2-1
28pseudosarcomatous fibromatosis10.2CTNNB1, VIM
29wilms tumor10.2CTNNB1, TP53
30sex cord-gonadal stromal tumor10.2VIM, NKX2-1
31fibromatosis10.2VIM, CTNNB1
32glomus tumor10.2VIM, SYP
33abrikosov's tumor10.2VIM, NKX2-1
34adrenal cortical adenoma10.2CTNNB1, SYP
35meningioma, familial10.2VIM, SYP
36sertoli cell tumor10.2SYP, VIM
37granular cell tumor10.2VIM, SYP
38gallbladder cancer10.2KRAS, TP53
39lynch syndrome10.2KRAS, TP53
40rhabdoid tumor10.2SYP, VIM
41thyroid cancer, anaplastic10.2CTNNB1, NKX2-1, TP53
42sarcoma, synovial10.2VIM, CTNNB1
43neurofibroma10.1VIM, SYP
44adrenocortical carcinoma10.1TP53, SYP
45oxyphilic adenoma10.1VIM, SYP
46adenosquamous carcinoma10.1NKX2-1, EGFR
47interstitial lung disease10.1NKX2-1, EGFR
48testicular cancer10.1CGB, KRAS
49bronchitis10.1
50hypercalcemia10.1

Graphical network of the top 20 diseases related to Pulmonary Blastoma:



Diseases related to pulmonary blastoma

Symptoms for Pulmonary Blastoma

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Symptoms:

 47 (show all 10)
  • radiologic lung abnormalities/changes
  • thoracic/chest pain
  • cough
  • hemoptysis
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • repeat respiratory infections
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax

HPO human phenotypes related to Pulmonary Blastoma:

(show all 8)
id Description Frequency HPO Source Accession
1 hemoptysis hallmark (90%) HP:0002105
2 neoplasm of the lung hallmark (90%) HP:0100526
3 chest pain hallmark (90%) HP:0100749
4 weight loss typical (50%) HP:0001824
5 respiratory insufficiency typical (50%) HP:0002093
6 recurrent respiratory infections typical (50%) HP:0002205
7 abnormality of temperature regulation typical (50%) HP:0004370
8 abnormality of the pleura occasional (7.5%) HP:0002103

Drugs & Therapeutics for Pulmonary Blastoma

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Drug clinical trials:

Search ClinicalTrials for Pulmonary Blastoma

Search NIH Clinical Center for Pulmonary Blastoma

Genetic Tests for Pulmonary Blastoma

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Anatomical Context for Pulmonary Blastoma

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MalaCards organs/tissues related to Pulmonary Blastoma:

31
Lung, Brain, Fetal lung, Bronchial epithelium, Lymph node, Liver, Thyroid, Ovary

Animal Models for Pulmonary Blastoma or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Blastoma:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5TP53, KRAS, EGFR, CTNNB1
2MP:00053718.3TP53, KRAS, EGFR, CTNNB1
3MP:00030128.2TP53, SYP, NKX2-1, EGFR, CTNNB1
4MP:00020068.2TP53, NKX2-1, KRAS, EGFR, CTNNB1
5MP:00053708.2CTNNB1, EGFR, KRAS, TP53
6MP:00053818.2CTNNB1, EGFR, KRAS, NKX2-1, TP53
7MP:00053798.1TP53, NKX2-1, KRAS, EGFR, CTNNB1
8MP:00053678.1TP53, KRAS, EGFR, CTNNB1
9MP:00028738.0TP53, SYP, KRAS, EGFR, CTNNB1
10MP:00053918.0TP53, VIM, KRAS, EGFR, CTNNB1
11MP:00053698.0TP53, VIM, KRAS, EGFR, CTNNB1
12MP:00053807.9CTNNB1, EGFR, KRAS, VIM, TP53
13MP:00053887.7CTNNB1, EGFR, KRAS, NKX2-1, VIM, TP53
14MP:00053977.7CTNNB1, EGFR, KRAS, VIM, TP53
15MP:00053897.7TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
16MP:00053857.7TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
17MP:00053847.6TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
18MP:00053787.5TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
19MP:00053767.5TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
20MP:00036317.3TP53, VIM, SYP, NKX2-1, KRAS, EGFR
21MP:00107687.1TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1

Publications for Pulmonary Blastoma

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Articles related to Pulmonary Blastoma:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Adult biphasic pulmonary blastoma. (23427368)
2013
2
18F-FDG PET/CT appearances of adult pulmonary blastoma. (23751833)
2013
3
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. (21292787)
2011
4
Pulmonary blastoma with yolk sac elements. (21045461)
2010
5
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
6
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. (20395246)
2010
7
Pulmonary blastoma metastatic to the ovary. (19047906)
2009
8
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. (19202177)
2009
9
Biphasic pulmonary blastoma with rapid progression. (19214452)
2009
10
Pulmonary blastoma. (17686364)
2007
11
Combined small cell carcinoma with pulmonary blastoma and adenocarcinoma: case report and clonality analysis. (17046168)
2006
12
A patient with shortness of breath and a left hilar mass. Biphasic pulmonary blastoma. (16683903)
2006
13
Survival of biphasic pulmonary blastoma. (16332433)
2006
14
Solitary brain metastasis from classic biphasic pulmonary blastoma: a case report and review of the literature. (17202827)
2006
15
A rare case of classic biphasic pulmonary blastoma. (16447486)
2005
16
Cyopathologic and histologic features of biphasic pulmonary blastoma: a case report. (15717762)
2005
17
Biphasic pulmonary blastoma presenting as endobronchial polyp with a long stalk. (15942110)
2005
18
Pulmonary blastoma. (11563261)
2001
19
Pulmonary blastoma: report of two cases. (11381509)
2001
20
Extension of a pulmonary blastoma into the left atrium. (11393507)
2001
21
Pulmonary blastoma: report of a case. (10483763)
1999
22
Pulmonary blastoma: diagnostic and therapeutic aspects. (10415291)
1999
23
Case of extra pulmonary, pleuro-pulmonary blastoma in a child: pathological and cytogenetic findings. (9142208)
1997
24
Pulmonary blastoma. (9255019)
1997
25
Resection and adjuvant chemotherapy of pulmonary blastoma. A case report. (8697409)
1996
26
p53 and MDM2 immunostaining in pulmonary blastomas and bronchogenic carcinomas. (8666362)
1996
27
Pulmonary blastoma presenting as a solitary lip metastasis: case report and review of the literature. (7552426)
1995
28
Resection and adjuvant chemotherapy of pulmonary blastoma: a case report. (8635054)
1995
29
Pulmonary blastoma in an adult presenting as a chronic loculated effusion: a diagnostic problem. (8091334)
1994
30
Pulmonary blastoma--a case and review of literature. (8613168)
1994
31
Pleuropulmonary blastoma (pulmonary blastoma of childhood): genetic link with other embryonal malignancies? (8063284)
1994
32
Pulmonary blastoma: a rare case of childhood malignancy. (1323822)
1992
33
Childhood pulmonary blastoma: a pleuropulmonary variant of the adult-type pulmonary blastoma. (1720893)
1991
34
Pulmonary blastoma with a topographic transition from blastic to more differentiated areas. An immunohistochemical assessment of its embryonic nature using stage-specific embryonic antigens. (1661048)
1991
35
Pulmonary blastoma with neuroendocrine differentiation in cell morules resembling neuroepithelial bodies. (2124206)
1990
36
Role of chemotherapy in pediatric pulmonary blastoma. (2152957)
1990
37
Pulmonary blastoma. (2176642)
1990
38
Pulmonary blastoma--report of a case. (2848950)
1988
39
Computed tomography of pulmonary blastoma in a child. (2991998)
1985
40
Pulmonary blastoma. An ultrastructural study of a case and its transplanted tumor in athymic nude mice. (7417940)
1980
41
Pulmonary blastoma. (158135)
1979
42
Cytopathologic findings in pulmonary blastoma. (295162)
1979
43
Pulmonary blastoma. (199865)
1977
44
Pulmonary blastoma: A light and electron microscopic study. (974996)
1976
45
Pulmonary blastoma: report of two cases. (1126201)
1975
46
Pulmonary blastoma. (4364385)
1974
47
Pulmonary blastoma. A case report and review of the literature. (4811746)
1974
48
Pulmonary blastoma. (4355012)
1973
49
Pulmonary blastoma with diverse mesenchymal proliferation. (5075621)
1972
50
Pulmonary blastoma with diverse metastases. (5351776)
1969

Variations for Pulmonary Blastoma

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Expression for genes affiliated with Pulmonary Blastoma

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Search GEO for disease gene expression data for Pulmonary Blastoma.

Pathways for genes affiliated with Pulmonary Blastoma

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Pathways related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

(show all 39)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6CTNNB1, VIM
29.6CTNNB1, VIM
39.5CTNNB1, EGFR
49.4EGFR, KRAS
59.4EGFR, KRAS
6
Show member pathways
9.4KRAS, EGFR
7
Show member pathways
EGFR-dependent Endothelin signaling events36
9.4EGFR, KRAS
89.3TP53, CTNNB1
9
Show member pathways
9.1KRAS, EGFR, CTNNB1
10
Show member pathways
9.1CTNNB1, EGFR, KRAS
11
Show member pathways
Cytoskeleton remodeling FAK signaling58
Development Endothelin 1 EDNRA transactivation of EGFR58
9.1KRAS, EGFR, CTNNB1
12
Show member pathways
9.1CTNNB1, EGFR, KRAS
13
Show member pathways
8.9TP53, KRAS, CTNNB1
148.9TP53, KRAS, CTNNB1
158.9TP53, KRAS, CTNNB1
168.9TP53, KRAS, CTNNB1
178.8CTNNB1, VIM, TP53
188.7CTNNB1, EGFR, TP53
198.7CTNNB1, EGFR, TP53
208.7CTNNB1, EGFR, TP53
218.7TP53, EGFR, CTNNB1
22
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6TP53, KRAS, EGFR
238.6TP53, KRAS, EGFR
248.6TP53, KRAS, EGFR
258.6TP53, KRAS, EGFR
26
Show member pathways
MAPK signaling pathway36
8.6EGFR, KRAS, TP53
27
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
8.6EGFR, KRAS, TP53
28
Show member pathways
8.6EGFR, KRAS, TP53
298.5EGFR, VIM, TP53
30
Show member pathways
8.2TP53, KRAS, EGFR, CTNNB1
318.2TP53, KRAS, EGFR, CTNNB1
32
Show member pathways
Signaling Pathways in Glioblastoma36
8.2TP53, KRAS, EGFR, CTNNB1
338.2CTNNB1, EGFR, KRAS, TP53
348.2CTNNB1, EGFR, KRAS, TP53
35
Show member pathways
Signal transduction PTEN pathway58
8.2CTNNB1, EGFR, KRAS, TP53
368.2CTNNB1, EGFR, KRAS, TP53
37
Show member pathways
8.2CTNNB1, EGFR, VIM, TP53
388.1EGFR, KRAS, VIM, TP53

Compounds for genes affiliated with Pulmonary Blastoma

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Compounds related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1s 100439.7VIM, SYP
2panitumumab43 49 1211.7EGFR, KRAS
3mucicarmine439.7NKX2-1, SYP, VIM
4b 723439.6NKX2-1, SYP, VIM
5hematoxylin439.6VIM, SYP, NKX2-1
6cetuximab43 49 1211.5KRAS, EGFR, CTNNB1
7leucovorin43 49 1211.4CGB, EGFR, KRAS
8gnrh439.3CGB, CTNNB1, NKX2-1, VIM
94-hydroxytamoxifen439.3VIM, EGFR, CTNNB1
10crcs439.3CTNNB1, KRAS, TP53
11bleomycin43 1210.2TP53, CTNNB1, CGB
12roscovitine439.2CTNNB1, VIM, TP53
13imatinib43 49 1211.1CTNNB1, EGFR, KRAS
14nocodazole43 1210.0CTNNB1, VIM, TP53
15gefitinib43 49 1211.0VIM, KRAS, EGFR, CTNNB1
16cyclic amp43 2410.0VIM, SYP, NKX2-1, CGB
17vincristine43 49 1211.0CGB, VIM, TP53
18adpribose439.0CTNNB1, EGFR, TP53
19geldanamycin43 49 59 1211.9TP53, EGFR, CTNNB1
20oxaliplatin43 49 1210.9TP53, KRAS, EGFR
21temozolomide43 129.9TP53, VIM, EGFR
22adriamycin438.9CTNNB1, VIM, TP53
23formaldehyde43 249.9VIM, SYP, NKX2-1
24rapamycin438.9CTNNB1, EGFR, KRAS, VIM
25irinotecan43 49 1210.9EGFR, KRAS, TP53
26genistein43 28 59 2 24 1213.9VIM, SYP, EGFR, CTNNB1
27phosphoinositide438.9VIM, KRAS, EGFR, CTNNB1
28egcg438.8CTNNB1, EGFR, TP53
29etoposide43 49 59 1211.7TP53, VIM, SYP, CGB
30thymidylate438.7TP53, VIM, EGFR
31butyrate438.7TP53, VIM, KRAS, CTNNB1
325fluorouracil438.6CTNNB1, EGFR, KRAS, TP53
33testosterone43 59 24 1211.6VIM, SYP, EGFR, CTNNB1, CGB
34mg 13243 599.6CTNNB1, EGFR, TP53
35ly294002438.6CTNNB1, EGFR, KRAS, TP53
36retinoid438.6TP53, VIM, EGFR, CTNNB1
37sb 20358043 599.5TP53, VIM, EGFR, CTNNB1
38tamoxifen43 49 28 1211.5CTNNB1, EGFR, VIM, TP53
39doxorubicin43 49 1210.5CTNNB1, EGFR, VIM, TP53
40oligonucleotide438.4TP53, VIM, NKX2-1, KRAS, CTNNB1
41h2o2438.3TP53, VIM, SYP, KRAS, CTNNB1
42cycloheximide438.2TP53, VIM, EGFR, CTNNB1
43paclitaxel43 49 1210.1TP53, VIM, KRAS, EGFR, CTNNB1
44cisplatin43 49 59 1210.9TP53, SYP, KRAS, EGFR, CTNNB1, CGB
45progesterone43 28 59 24 1211.5TP53, VIM, SYP, NKX2-1, EGFR, CTNNB1
46paraffin437.4CTNNB1, TP53, VIM, SYP, NKX2-1, KRAS
47retinoic acid43 248.4TP53, VIM, SYP, NKX2-1, KRAS, EGFR
48serine437.4TP53, VIM, SYP, NKX2-1, KRAS, EGFR
49vegf437.4TP53, VIM, SYP, KRAS, EGFR, CTNNB1
50estrogen437.1TP53, VIM, SYP, NKX2-1, KRAS, EGFR

GO Terms for genes affiliated with Pulmonary Blastoma

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Cellular components related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.5CTNNB1, NKX2-1, TP53, TTF1

Biological processes related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1epithelial tube branching involved in lung morphogenesisGO:006044110.0CTNNB1, NKX2-1
2regulation of long-term neuronal synaptic plasticityGO:00481699.8KRAS, SYP
3cerebral cortex cell migrationGO:00217959.8EGFR, NKX2-1
4cellular component disassembly involved in execution phase of apoptosisGO:00069219.6CTNNB1, VIM
5T cell differentiation in thymusGO:00330779.4CTNNB1, TP53
6positive regulation of MAP kinase activityGO:00434069.3EGFR, KRAS
7negative regulation of DNA replicationGO:00081569.3TP53, TTF1
8axon guidanceGO:00074119.1NKX2-1, KRAS, EGFR
9cellular response to drugGO:00356908.7EGFR, TP53
10apoptotic processGO:00069158.6TP53, VIM, CTNNB1, CGB
11positive regulation of transcription from RNA polymerase II promoterGO:00459448.5TP53, NKX2-1, EGFR, CTNNB1

Molecular functions related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.3EGFR, VIM
2protein complex bindingGO:00324039.3CTNNB1, KRAS, SYP
3transcription regulatory region DNA bindingGO:00442129.1TP53, NKX2-1, CTNNB1
4protein phosphatase bindingGO:00199038.9CTNNB1, EGFR, TP53
5enzyme bindingGO:00198998.6TP53, EGFR, CTNNB1
6protein kinase bindingGO:00199018.4CTNNB1, EGFR, TP53
7chromatin bindingGO:00036828.3TTF1, TP53, EGFR, CTNNB1
8identical protein bindingGO:00428028.2EGFR, SYP, VIM, TP53

Products for genes affiliated with Pulmonary Blastoma

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  • Antibodies
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Sources for Pulmonary Blastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet