MCID: PLM032
MIFTS: 49

Pulmonary Blastoma malady

Categories: Respiratory diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Pulmonary Blastoma

Aliases & Descriptions for Pulmonary Blastoma:

Name: Pulmonary Blastoma 12 56 52 42 14 69
Blastoma of Lung 12
Pneumoblastoma 56

Characteristics:

Orphanet epidemiological data:

56
pulmonary blastoma
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4765
MeSH 42 D018202
NCIt 47 C3732
SNOMED-CT 64 189815007 43149009
Orphanet 56 ORPHA64741
ICD10 via Orphanet 34 C34.2 C34.8 C34.9 more
MESH via Orphanet 43 D018202
UMLS via Orphanet 70 C0206629
UMLS 69 C0206629

Summaries for Pulmonary Blastoma

Disease Ontology : 12 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 pneumothorax and classic pulmonary blastoma, and has symptoms including dyspnea, fever and hemoptysis. An important gene associated with Pulmonary Blastoma is NKX2-1 (NK2 Homeobox 1), and among its related pathways/superpathways are Apoptosis Pathway and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Trastuzumab and Antimitotic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and fetal lung, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Pulmonary Blastoma

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

(show top 50) (show all 189)
id Related Disease Score Top Affiliating Genes
1 pneumothorax 30.0 DICER1 SYP
2 classic pulmonary blastoma 12.1
3 epithelial predominant pulmonary blastoma 11.9
4 pleuropulmonary blastoma 11.9
5 blastoma 10.8
6 cervical benign neoplasm 10.3 SYP TP53
7 clear cell meningioma 10.3 SYP TP53
8 verruciform xanthoma of skin 10.3 DES TP53
9 blood group incompatibility 10.3 SYP TP53
10 mast-cell sarcoma 10.3 SYP TP53
11 olfactory neuroblastoma 10.3 SYP TP53
12 paraphimosis 10.3 SYP TP53
13 pineoblastoma 10.3 SYP TP53
14 tmem70 defect 10.2 NKX2-1 TP53
15 gallbladder pleomorphic giant cell adenocarcinoma 10.2 SYP TP53
16 adult epithelioid sarcoma 10.2 SYP TP53
17 male reproductive system disease 10.2 DES SYP
18 porokeratosis 10.2 NKX2-1 TP53
19 coronary stenosis 10.2 DES TP53
20 breast pericanalicular fibroadenoma 10.2 NKX2-1 TP53
21 breast ductal carcinoma 10.2 KRAS TP53
22 sebaceous adenoma 10.2 DES SYP
23 mitochondrial neurogastrointestinal encephalopathy disease 10.2 KRAS TP53
24 bone benign neoplasm 10.2 SYP TP53
25 house allergic alveolitis 10.2 DES TP53
26 infantile thalamic degeneration 10.2 KRAS TP53
27 proliferative glomerulonephritis 10.2 DICER1 SYP
28 adult syndrome 10.2 KRAS TP53
29 postpoliomyelitis syndrome 10.2 KRAS TP53
30 inhibited male orgasm 10.2 KRAS TP53
31 urethral cancer 10.2 DES KRAS
32 biliary papillomatosis 10.2 DES KRAS
33 wolffian adnexal neoplasm 10.2 EGFR TP53
34 nipple neoplasm 10.2 DICER1 SYP
35 brain oligodendroglioma 10.2 SYP TP53
36 liver angiosarcoma 10.2 DES DICER1
37 rhabdomyosarcoma, embryonal, 2 10.2 DICER1 TP53
38 pelvic inflammatory disease 10.2 KRAS SYP
39 brainstem intraparenchymal clear cell meningioma 10.2 EGFR TP53
40 parachordoma 10.2 KRAS NKX2-1
41 giant cell tumor 10.2 KRAS TP53
42 uterine corpus endometrial stromal sarcoma 10.2 KRAS TP53
43 childhood embryonal testis carcinoma 10.2 EGFR TP53
44 papillary adenofibroma 10.2 KRAS TP53
45 childhood central nervous system primitive neuroectodermal neoplasm 10.1 SYP TP53
46 glomangioma 10.1 DES SYP TP53
47 ossifying fibromyxoid tumor 10.1 KRAS TP53
48 childhood medulloblastoma 10.1 DES SYP TP53
49 duodenal carcinoid syndrome 10.1 DES EGFR
50 spastic paraplegia 1 10.1 EGFR TP53

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



Diseases related to Pulmonary Blastoma

Symptoms & Phenotypes for Pulmonary Blastoma

Human phenotypes related to Pulmonary Blastoma:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 56 32 Frequent (79-30%) HP:0002094
2 fever 56 32 Frequent (79-30%) HP:0001945
3 hemoptysis 56 32 Very frequent (99-80%) HP:0002105
4 chest pain 56 32 Very frequent (99-80%) HP:0100749
5 weight loss 56 32 Frequent (79-30%) HP:0001824
6 recurrent pneumonia 56 32 Frequent (79-30%) HP:0006532
7 cough 56 32 Very frequent (99-80%) HP:0012735
8 pulmonary infiltrates 56 32 Very frequent (99-80%) HP:0002113
9 pleuropulmonary blastoma 56 32 Very frequent (99-80%) HP:0100528

UMLS symptoms related to Pulmonary Blastoma:


coughing, dyspnea, fever, hemoptysis

MGI Mouse Phenotypes related to Pulmonary Blastoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 CHGA DES DICER1 EGFR KRAS NKX2-1
2 homeostasis/metabolism MP:0005376 9.95 CHGA DES DICER1 EGFR KRAS NKX2-1
3 endocrine/exocrine gland MP:0005379 9.91 CHGA DICER1 EGFR KRAS NKX2-1 TP53
4 neoplasm MP:0002006 9.77 TP53 DICER1 EGFR KRAS NKX2-1
5 normal MP:0002873 9.73 DICER1 EGFR KRAS NKX2-1 SYP TP53
6 no phenotypic analysis MP:0003012 9.72 DICER1 EGFR KRAS NKX2-1 TP53
7 renal/urinary system MP:0005367 9.55 CHGA DICER1 EGFR KRAS TP53
8 reproductive system MP:0005389 9.43 CHGA DICER1 EGFR KRAS NKX2-1 TP53
9 respiratory system MP:0005388 9.02 DICER1 EGFR KRAS NKX2-1 TP53

Drugs & Therapeutics for Pulmonary Blastoma

Drugs for Pulmonary Blastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
2 Antimitotic Agents Phase 2
3 Antineoplastic Agents, Phytogenic Phase 2
4 Ado-trastuzumab emtansine Phase 2
5 Immunoglobulins Phase 2
6 Antibodies, Monoclonal Phase 2
7 Maytansine Phase 2
8 Antibodies Phase 2
9
Doxorubicin Approved, Investigational 23214-92-8 31703
10
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
11
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
12
Ifosfamide Approved 3778-73-2 3690
13
Mechlorethamine Approved 51-75-2 4033
14
Dactinomycin Approved 50-76-0 2019 457193
15
Doxil Approved June 1999 31703
16 Alkylating Agents
17 Topoisomerase Inhibitors
18 Nucleic Acid Synthesis Inhibitors
19 Anti-Bacterial Agents
20 Anti-Infective Agents
21 Immunosuppressive Agents
22 Isophosphamide mustard
23 Antibiotics, Antitubercular
24 Antirheumatic Agents
25 Antineoplastic Agents, Alkylating

Interventional clinical trials:


id Name Status NCT ID Phase
1 Lorvotuzumab Mertansine in Treating Younger Patients With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor, or Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
2 Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer Completed NCT01353300
3 Review of the Paediatric Pleuropulmonary Blastoma French Series Recruiting NCT03044834
4 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Recruiting NCT01464606
5 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
6 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
7 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769
8 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696

Search NIH Clinical Center for Pulmonary Blastoma

Cochrane evidence based reviews: pulmonary blastoma

Genetic Tests for Pulmonary Blastoma

Anatomical Context for Pulmonary Blastoma

MalaCards organs/tissues related to Pulmonary Blastoma:

39
Lung, Brain, Fetal Lung, Liver, Thyroid, Lymph Node, Ovary

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 205)
id Title Authors Year
1
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
2
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
3
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
4
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
5
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
6
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. ( 25755806 )
2015
7
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. ( 26254381 )
2015
8
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. ( 26504071 )
2015
9
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. ( 26075125 )
2015
10
Pulmonary blastoma: a case report and review of the literature. ( 24885892 )
2014
11
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. ( 24895392 )
2014
12
Biphasic pulmonary blastoma: An unusual presentation with chest wall, rib, and pleural involvement. ( 24669096 )
2014
13
Discoid lupus and pulmonary blastoma in an elderly patient. ( 24771745 )
2014
14
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. ( 25493248 )
2014
15
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. ( 26842180 )
2014
16
Primary pulmonary blastoma of monophasic variety--diagnosis and management. ( 23758909 )
2013
17
18F-FDG PET/CT appearances of adult pulmonary blastoma. ( 23751833 )
2013
18
Classic Biphasic Pulmonary Blastoma Demonstrated by 18F-FDG PET/CT. ( 23989445 )
2013
19
Adult biphasic pulmonary blastoma. ( 23427368 )
2013
20
A rare occurrence of biphasic pulmonary blastoma in an elderly male. ( 24023328 )
2013
21
Radiographic illusion of cardiomegaly resulting from a pulmonary blastoma in a patient imaged for evaluation of chronic bronchitis. ( 23887987 )
2013
22
Pulmonary blastoma with submandibular, scrotum and adrenal metastases: case report. ( 21447935 )
2012
23
Pulmonary blastoma: a rare primary lung malignancy. ( 23049565 )
2012
24
Pulmonary blastoma in a young adult. ( 23008928 )
2012
25
Classic pulmonary blastoma: a subtype of biphasic pulmonary blastoma. ( 22001215 )
2012
26
Pulmonary blastoma in adult: dramatic but transient response to doxorubicin plus ifosfamide. ( 20670092 )
2011
27
Pneumothorax in a child with pulmonary blastoma. ( 21349540 )
2011
28
Classic biphasic pulmonary blastoma: a case report and review of the literature. ( 21513998 )
2011
29
Establishment and phenotypic characterization of the first human pulmonary blastoma cell line. ( 20724021 )
2011
30
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. ( 21292787 )
2011
31
Fine-needle aspiration of classic biphasic pulmonary blastoma. ( 19937760 )
2010
32
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. ( 19902198 )
2010
33
Preoperative radiation therapy and chemotherapy for pulmonary blastoma: a case report. ( 20101153 )
2010
34
Pulmonary blastoma with yolk sac elements. ( 21045461 )
2010
35
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. ( 20395246 )
2010
36
Pulmonary blastoma metastatic to the ovary. ( 19047906 )
2009
37
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. ( 19202177 )
2009
38
Pulmonary blastoma with endobronchial growth. ( 19333073 )
2009
39
Biphasic pulmonary blastoma with rapid progression. ( 19214452 )
2009
40
Cytologic features of pulmonary blastoma. ( 21938157 )
2009
41
Biphasic pulmonary blastoma with germ cell differentiation in a 36-year-old man. ( 18827617 )
2008
42
Radical resection of a pulmonary blastoma involving the pulmonary artery. ( 18579394 )
2008
43
[Clinicopathological and immunohistochemical features of pulmonary blastoma: analysis of 4 cases and review of the literature]. ( 17672968 )
2007
44
Pulmonary blastoma. ( 17686364 )
2007
45
Clonality and heterogeneity of pulmonary blastoma from the viewpoint of genetic alterations: a case report. ( 17350138 )
2007
46
Biphagic pulmonary blastoma with a lesion of yolk sac tumor. ( 17642278 )
2007
47
Pulmonary blastoma with renal metastasis responds to sorafenib. ( 17409808 )
2007
48
Prognostic factors in pleuro-pulmonary blastoma. ( 16619221 )
2007
49
Biphasic pulmonary blastoma: report of a case. ( 17392670 )
2007
50
Combined small cell carcinoma with pulmonary blastoma and adenocarcinoma: case report and clonality analysis. ( 17046168 )
2006

Variations for Pulmonary Blastoma

Expression for Pulmonary Blastoma

Search GEO for disease gene expression data for Pulmonary Blastoma.

Pathways for Pulmonary Blastoma

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

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 EGFR KRAS TP53
2
Show member pathways
12.17 DES EGFR KRAS
3
Show member pathways
12.11 EGFR KRAS TP53
4
Show member pathways
12.03 EGFR KRAS TP53
5 11.99 EGFR KRAS TP53
6 11.93 DICER1 EGFR KRAS TP53
7 11.87 EGFR KRAS TP53
8
Show member pathways
11.85 EGFR KRAS TP53
9 11.8 EGFR KRAS TP53
10
Show member pathways
11.73 EGFR KRAS TP53
11 11.66 EGFR KRAS TP53
12 11.54 EGFR KRAS TP53
13 11.1 EGFR TP53
14 11.04 EGFR KRAS
15 11.02 KRAS TP53
16 11 EGFR KRAS TP53
17 10.99 EGFR KRAS
18 10.96 EGFR KRAS
19
Show member pathways
10.91 EGFR KRAS
20 10.85 EGFR KRAS TP53
21 10.61 EGFR KRAS TP53

GO Terms for Pulmonary Blastoma

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

id Name GO ID Score Top Affiliating Genes
1 ERBB2 signaling pathway GO:0038128 9.26 EGFR KRAS
2 regulation of long-term neuronal synaptic plasticity GO:0048169 9.16 KRAS SYP
3 epithelial tube branching involved in lung morphogenesis GO:0060441 8.96 KRAS NKX2-1
4 cerebral cortex cell migration GO:0021795 8.62 EGFR NKX2-1

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 DES EGFR SYP TP53

Sources for Pulmonary Blastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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