MCID: PLM032
MIFTS: 52

Pulmonary Blastoma malady

Respiratory diseases, Cancer diseases, Rare diseases categories

Aliases & Classifications for Pulmonary Blastoma

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Sources:
8Disease Ontology, 44Novoseek, 48Orphanet, 61UMLS, 39NCIt, 33MeSH, 56SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Pulmonary Blastoma:

Name: Pulmonary Blastoma 8 44 48 61
Blastoma of Lung 8
 
Pneumoblastoma 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
pulmonary blastoma:
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology8 DOID:4765
NCIt39 C3732
MeSH33 D018202
Orphanet48 64741
SNOMED-CT56 189815007, 43149009
MESH via Orphanet34 D018202
ICD10 via Orphanet26 C34
UMLS via Orphanet62 C0206629

Summaries for Pulmonary Blastoma

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Disease Ontology:8 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:

 48 (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:00011868.5KRAS, EGFR, CTNNB1, TP53
2MP:00053718.3EGFR, CTNNB1, KRAS, TP53
3MP:00030128.2TP53, CTNNB1, NKX2-1, SYP, EGFR
4MP:00020068.2NKX2-1, KRAS, EGFR, CTNNB1, TP53
5MP:00053708.2EGFR, KRAS, CTNNB1, TP53
6MP:00053818.2EGFR, TP53, KRAS, NKX2-1, CTNNB1
7MP:00053798.1EGFR, TP53, KRAS, CTNNB1, NKX2-1
8MP:00053678.1CTNNB1, KRAS, TP53, EGFR
9MP:00028738.0SYP, CTNNB1, TP53, KRAS, EGFR
10MP:00053918.0EGFR, KRAS, VIM, TP53, CTNNB1
11MP:00053698.0TP53, VIM, KRAS, EGFR, CTNNB1
12MP:00053807.9KRAS, EGFR, TP53, CTNNB1, VIM
13MP:00053887.7CTNNB1, EGFR, KRAS, NKX2-1, TP53, VIM
14MP:00053977.7CTNNB1, EGFR, VIM, TP53, KRAS
15MP:00053897.7TP53, EGFR, KRAS, NKX2-1, CTNNB1, VIM
16MP:00053857.7NKX2-1, KRAS, EGFR, CTNNB1, VIM, TP53
17MP:00053847.6VIM, NKX2-1, KRAS, EGFR, TP53, CTNNB1
18MP:00053787.5TP53, VIM, NKX2-1, CTNNB1, EGFR, KRAS
19MP:00053767.5CTNNB1, VIM, EGFR, NKX2-1, TP53, KRAS
20MP:00036317.3TP53, VIM, NKX2-1, KRAS, EGFR, CTNNB1
21MP:00107687.1NKX2-1, KRAS, EGFR, VIM, TP53, 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
49.4KRAS, EGFR
59.4KRAS, EGFR
6
Show member pathways
9.4EGFR, KRAS
7
Show member pathways
EGFR-dependent Endothelin signaling events36
9.4EGFR, KRAS
89.3CTNNB1, TP53
9
Show member pathways
9.1EGFR, KRAS, CTNNB1
10
Show member pathways
9.1KRAS, EGFR, CTNNB1
11
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
9.1CTNNB1, EGFR, KRAS
12
Show member pathways
9.1KRAS, CTNNB1, EGFR
138.9CTNNB1, KRAS, TP53
148.9CTNNB1, KRAS, TP53
15
Show member pathways
8.9TP53, CTNNB1, KRAS
168.9KRAS, TP53, CTNNB1
178.8CTNNB1, VIM, TP53
188.7CTNNB1, EGFR, TP53
198.7CTNNB1, EGFR, TP53
208.7EGFR, TP53, CTNNB1
218.7EGFR, CTNNB1, TP53
22
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
8.6KRAS, TP53, EGFR
23
Show member pathways
8.6TP53, EGFR, KRAS
248.6KRAS, EGFR, TP53
258.6TP53, EGFR, KRAS
26
Show member pathways
MAPK signaling pathway36
8.6TP53, EGFR, KRAS
27
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
8.6EGFR, KRAS, TP53
288.6EGFR, KRAS, TP53
298.5TP53, VIM, EGFR
30
Show member pathways
Signaling Pathways in Glioblastoma36
8.2CTNNB1, TP53, KRAS, EGFR
318.2TP53, KRAS, EGFR, CTNNB1
32
Show member pathways
8.2TP53, KRAS, EGFR, CTNNB1
338.2EGFR, TP53, KRAS, CTNNB1
34
Show member pathways
Signal transduction PTEN pathway59
8.2KRAS, EGFR, CTNNB1, TP53
358.2TP53, EGFR, CTNNB1, KRAS
368.2TP53, EGFR, CTNNB1, KRAS
37
Show member pathways
8.2EGFR, VIM, CTNNB1, 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 100449.7VIM, SYP
2panitumumab44 50 1111.7KRAS, EGFR
3mucicarmine449.7NKX2-1, SYP, VIM
4b 723449.6SYP, VIM, NKX2-1
5hematoxylin449.6NKX2-1, SYP, VIM
6cetuximab44 50 1111.5CTNNB1, EGFR, KRAS
7leucovorin44 50 1111.4CGB, EGFR, KRAS
8gnrh449.3CGB, CTNNB1, NKX2-1, VIM
94-hydroxytamoxifen449.3CTNNB1, VIM, EGFR
10crcs449.3TP53, CTNNB1, KRAS
11bleomycin44 1110.2CTNNB1, CGB, TP53
12roscovitine449.2CTNNB1, VIM, TP53
13imatinib44 50 1111.1EGFR, CTNNB1, KRAS
14nocodazole44 1110.0VIM, CTNNB1, TP53
15gefitinib44 50 1111.0KRAS, EGFR, CTNNB1, VIM
16cyclic amp44 2410.0SYP, NKX2-1, CGB, VIM
17vincristine44 50 1111.0TP53, CGB, VIM
18adpribose449.0TP53, EGFR, CTNNB1
19geldanamycin44 50 60 1111.9EGFR, TP53, CTNNB1
20oxaliplatin44 50 1110.9KRAS, EGFR, TP53
21temozolomide44 119.9TP53, EGFR, VIM
22adriamycin448.9CTNNB1, TP53, VIM
23formaldehyde44 249.9VIM, SYP, NKX2-1
24rapamycin448.9VIM, KRAS, EGFR, CTNNB1
25irinotecan44 50 1110.9EGFR, KRAS, TP53
26genistein44 28 60 1 24 1113.9VIM, SYP, EGFR, CTNNB1
27phosphoinositide448.9VIM, KRAS, EGFR, CTNNB1
28egcg448.8CTNNB1, EGFR, TP53
29etoposide44 50 60 1111.7SYP, CGB, TP53, VIM
30thymidylate448.7EGFR, TP53, VIM
31butyrate448.7TP53, KRAS, CTNNB1, VIM
325fluorouracil448.6KRAS, EGFR, CTNNB1, TP53
33testosterone44 60 24 1111.6EGFR, VIM, CGB, CTNNB1, SYP
34mg 13244 609.6EGFR, CTNNB1, TP53
35ly294002448.6EGFR, TP53, KRAS, CTNNB1
36retinoid448.6TP53, CTNNB1, EGFR, VIM
37sb 20358044 609.5EGFR, VIM, TP53, CTNNB1
38tamoxifen44 50 28 1111.5CTNNB1, EGFR, TP53, VIM
39doxorubicin44 50 1110.5CTNNB1, EGFR, VIM, TP53
40oligonucleotide448.4KRAS, TP53, VIM, NKX2-1, CTNNB1
41h2o2448.3SYP, CTNNB1, TP53, VIM, KRAS
42cycloheximide448.2CTNNB1, TP53, VIM, EGFR
43paclitaxel44 50 1110.1CTNNB1, TP53, VIM, KRAS, EGFR
44cisplatin44 50 60 1110.9EGFR, KRAS, SYP, CTNNB1, CGB, TP53
45progesterone44 28 60 24 1111.5TP53, VIM, CGB, EGFR, NKX2-1, CTNNB1
46paraffin447.4SYP, CTNNB1, EGFR, KRAS, NKX2-1, VIM
47retinoic acid44 248.4VIM, SYP, NKX2-1, KRAS, EGFR, CTNNB1
48serine447.4EGFR, TP53, SYP, CTNNB1, NKX2-1, KRAS
49vegf447.4TP53, CTNNB1, EGFR, KRAS, SYP, VIM
50estrogen447.1VIM, TP53, 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

Sources for Pulmonary Blastoma

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet