MCID: PLM032
MIFTS: 54

Pulmonary Blastoma

Categories: Respiratory diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Pulmonary Blastoma

MalaCards integrated aliases for Pulmonary Blastoma:

Name: Pulmonary Blastoma 12 72 55 51 41 14 69
Blastoma of Lung 12
Pneumoblastoma 55

Characteristics:

Orphanet epidemiological data:

55
pulmonary blastoma
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 55  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4765
MeSH 41 D018202
NCIt 46 C3732
SNOMED-CT 64 189815007 43149009
Orphanet 55 ORPHA64741
MESH via Orphanet 42 D018202
UMLS via Orphanet 70 C0206629
ICD10 via Orphanet 33 C34.1 C34.2 C34.3 more
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 pleuropulmonary blastoma and blastoma, and has symptoms including weight loss, fever and dyspnea. An important gene associated with Pulmonary Blastoma is NKX2-1 (NK2 Homeobox 1), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and ErbB signaling pathway. The drugs Adenosine and Trastuzumab 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

Wikipedia : 72 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

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 207)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 33.7 DICER1 TP53
2 blastoma 31.1 DICER1 NKX2-1 SYP TP53
3 embryonal sarcoma 30.1 DES TP53
4 spindle cell carcinoma 30.0 DES SYP
5 adenocarcinoma 29.2 EGFR KRAS TP53
6 small cell carcinoma 28.2 CHGA EGFR NKX2-1 SYP TP53
7 classic pulmonary blastoma 12.2
8 epithelial predominant pulmonary blastoma 12.1
9 pineal gland cancer 10.4 DICER1 SYP
10 cerebellum cancer 10.4 SYP TP53
11 cerebral neuroblastoma 10.4 SYP TP53
12 pineoblastoma 10.4 DICER1 SYP
13 cerebral ventricle cancer 10.4 SYP TP53
14 cerebrum cancer 10.4 SYP TP53
15 supratentorial cancer 10.4 SYP TP53
16 glycogen-rich clear cell breast carcinoma 10.4 SYP TP53
17 central nervous system organ benign neoplasm 10.4 SYP TP53
18 meningeal melanomatosis 10.4 SYP TP53
19 cystic nephroma 10.4 DES DICER1
20 papilloma of choroid plexus 10.4 SYP TP53
21 myxosarcoma 10.3 SYP TP53
22 dedifferentiated liposarcoma 10.3 DES TP53
23 cerebral primitive neuroectodermal tumor 10.3 SYP TP53
24 adenosarcoma 10.3 DES TP53
25 optic nerve neoplasm 10.3 SYP TP53
26 olfactory groove meningioma 10.3 CHGA TP53
27 perivascular epithelioid cell tumor 10.3 DES SYP
28 chordoid glioma 10.3 NKX2-1 TP53
29 papillary serous adenocarcinoma 10.3 NKX2-1 TP53
30 ureter small cell carcinoma 10.3 CHGA SYP
31 esophageal neuroendocrine tumor 10.3 CHGA SYP
32 urinary bladder small cell neuroendocrine carcinoma 10.3 CHGA SYP
33 anterior cranial fossa meningioma 10.3 CHGA TP53
34 ovarian large-cell neuroendocrine carcinoma 10.3 CHGA SYP
35 auditory system cancer 10.3 CHGA SYP
36 adenoma of the pancreas 10.3 CHGA SYP
37 acinar cell cystadenocarcinoma 10.3 CHGA SYP
38 peritoneal serous adenocarcinoma 10.3 CHGA SYP
39 adult medulloblastoma 10.3 SYP TP53
40 gallbladder small cell carcinoma 10.3 CHGA SYP
41 primary hepatic neuroendocrine carcinoma 10.3 CHGA SYP
42 gastrointestinal neuroendocrine tumor 10.3 CHGA SYP
43 pulmonary large cell neuroendocrine carcinoma 10.3 CHGA SYP
44 chordoid meningioma 10.3 CHGA SYP
45 olfactory nerve neoplasm 10.3 CHGA SYP
46 pancreatic serous cystadenoma 10.3 CHGA SYP
47 cauda equina neoplasm 10.3 CHGA SYP
48 malignant teratoma 10.3 NKX2-1 SYP
49 conventional angiosarcoma 10.3 CHGA SYP
50 clear cell ependymoma 10.3 SYP 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:

55 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
2 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
3 dyspnea 55 31 frequent (33%) Frequent (79-30%) HP:0002094
4 hemoptysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002105
5 pulmonary infiltrates 55 31 hallmark (90%) Very frequent (99-80%) HP:0002113
6 recurrent pneumonia 55 31 frequent (33%) Frequent (79-30%) HP:0006532
7 cough 55 31 hallmark (90%) Very frequent (99-80%) HP:0012735
8 pleuropulmonary blastoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0100528
9 chest pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0100749

UMLS symptoms related to Pulmonary Blastoma:


hemoptysis, fever, dyspnea, coughing

MGI Mouse Phenotypes related to Pulmonary Blastoma:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.04 TP53 CHGA KRAS DES DICER1 NKX2-1
2 homeostasis/metabolism MP:0005376 10 EGFR CHGA DES KRAS DICER1 NKX2-1
3 mortality/aging MP:0010768 9.98 EGFR CHGA DES KRAS DICER1 NKX2-1
4 endocrine/exocrine gland MP:0005379 9.95 EGFR CHGA KRAS DICER1 NKX2-1 TP53
5 muscle MP:0005369 9.8 EGFR DES KRAS DICER1 TP53
6 no phenotypic analysis MP:0003012 9.8 TP53 CHGA KRAS DICER1 NKX2-1 EGFR
7 neoplasm MP:0002006 9.77 KRAS DICER1 NKX2-1 EGFR TP53
8 normal MP:0002873 9.73 SYP EGFR KRAS DICER1 NKX2-1 TP53
9 renal/urinary system MP:0005367 9.55 EGFR CHGA KRAS DICER1 TP53
10 reproductive system MP:0005389 9.43 EGFR CHGA KRAS DICER1 NKX2-1 TP53
11 respiratory system MP:0005388 9.02 EGFR KRAS DICER1 NKX2-1 TP53

Drugs & Therapeutics for Pulmonary Blastoma

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 2 58-61-7 60961
2
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
3 Antimitotic Agents Phase 2
4 Antineoplastic Agents, Phytogenic Phase 2
5 Ado-trastuzumab emtansine Phase 2
6 Antibodies Phase 2
7 Antibodies, Monoclonal Phase 2
8 Immunoglobulins Phase 2
9 Maytansine Phase 2
10
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
11
Dactinomycin Approved, Investigational 50-76-0 457193 2019
12
Doxorubicin Approved, Investigational 23214-92-8 31703
13
Ifosfamide Approved 3778-73-2 3690
14
Mechlorethamine Approved, Investigational 51-75-2 4033
15
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
16
Doxil Approved June 1999 31703
17 Alkylating Agents
18 Anti-Bacterial Agents
19 Antibiotics, Antitubercular
20 Anti-Infective Agents
21 Antirheumatic Agents
22 Immunosuppressive Agents
23 Isophosphamide mustard 0
24 Nucleic Acid Synthesis Inhibitors
25 Topoisomerase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
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 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
8 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769
9 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:

38
Lung, Brain, Fetal Lung, Ovary, Thyroid, Liver, Lymph Node

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 212)
# Title Authors Year
1
A patient with classic biphasic pulmonary blastoma harboring<i>CD74-ROS1</i>fusion responds to crizotinib. ( 29343973 )
2018
2
Pulmonary blastoma in a child: Report of a case with cytological findings. ( 28898554 )
2017
3
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. ( 28675947 )
2017
4
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. ( 29295663 )
2017
5
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. ( 29299105 )
2017
6
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. ( 28543815 )
2017
7
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. ( 29390280 )
2017
8
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
9
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
10
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
11
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
12
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. ( 26254381 )
2015
13
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. ( 26075125 )
2015
14
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. ( 25755806 )
2015
15
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
16
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. ( 26504071 )
2015
17
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. ( 24895392 )
2014
18
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. ( 25493248 )
2014
19
Biphasic pulmonary blastoma: An unusual presentation with chest wall, rib, and pleural involvement. ( 24669096 )
2014
20
Pulmonary blastoma: a case report and review of the literature. ( 24885892 )
2014
21
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. ( 26842180 )
2014
22
Discoid lupus and pulmonary blastoma in an elderly patient. ( 24771745 )
2014
23
Adult biphasic pulmonary blastoma. ( 23427368 )
2013
24
18F-FDG PET/CT appearances of adult pulmonary blastoma. ( 23751833 )
2013
25
Radiographic illusion of cardiomegaly resulting from a pulmonary blastoma in a patient imaged for evaluation of chronic bronchitis. ( 23887987 )
2013
26
Primary pulmonary blastoma of monophasic variety--diagnosis and management. ( 23758909 )
2013
27
A rare occurrence of biphasic pulmonary blastoma in an elderly male. ( 24023328 )
2013
28
Classic Biphasic Pulmonary Blastoma Demonstrated by 18F-FDG PET/CT. ( 23989445 )
2013
29
Pulmonary blastoma with submandibular, scrotum and adrenal metastases: case report. ( 21447935 )
2012
30
Pulmonary blastoma in a young adult. ( 23008928 )
2012
31
Pulmonary blastoma: a rare primary lung malignancy. ( 23049565 )
2012
32
Classic pulmonary blastoma: a subtype of biphasic pulmonary blastoma. ( 22001215 )
2012
33
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. ( 21292787 )
2011
34
Establishment and phenotypic characterization of the first human pulmonary blastoma cell line. ( 20724021 )
2011
35
Classic biphasic pulmonary blastoma: a case report and review of the literature. ( 21513998 )
2011
36
Pneumothorax in a child with pulmonary blastoma. ( 21349540 )
2011
37
Pulmonary blastoma in adult: dramatic but transient response to doxorubicin plus ifosfamide. ( 20670092 )
2011
38
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. ( 20395246 )
2010
39
Fine-needle aspiration of classic biphasic pulmonary blastoma. ( 19937760 )
2010
40
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. ( 19902198 )
2010
41
Preoperative radiation therapy and chemotherapy for pulmonary blastoma: a case report. ( 20101153 )
2010
42
Pulmonary blastoma with yolk sac elements. ( 21045461 )
2010
43
Pulmonary blastoma with endobronchial growth. ( 19333073 )
2009
44
Biphasic pulmonary blastoma with rapid progression. ( 19214452 )
2009
45
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. ( 19202177 )
2009
46
Pulmonary blastoma metastatic to the ovary. ( 19047906 )
2009
47
Cytologic features of pulmonary blastoma. ( 21938157 )
2009
48
Biphasic pulmonary blastoma with germ cell differentiation in a 36-year-old man. ( 18827617 )
2008
49
Radical resection of a pulmonary blastoma involving the pulmonary artery. ( 18579394 )
2008
50
[Clinicopathological and immunohistochemical features of pulmonary blastoma: analysis of 4 cases and review of the literature]. ( 17672968 )
2007

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 EGFR KRAS TP53
2
Show member pathways
12.21 EGFR KRAS TP53
3
Show member pathways
12.2 EGFR KRAS TP53
4
Show member pathways
12.16 EGFR KRAS TP53
5
Show member pathways
12.14 DES EGFR KRAS
6 11.98 EGFR KRAS TP53
7
Show member pathways
11.96 EGFR KRAS TP53
8 11.93 DICER1 EGFR KRAS TP53
9 11.85 EGFR KRAS TP53
10 11.8 EGFR KRAS TP53
11
Show member pathways
11.76 EGFR KRAS TP53
12
Show member pathways
11.64 EGFR KRAS TP53
13 11.61 EGFR KRAS TP53
14 11.48 EGFR KRAS TP53
15 11.2 EGFR KRAS
16 11.07 EGFR TP53
17 11 EGFR KRAS
18 11 EGFR KRAS TP53
19 10.94 EGFR KRAS
20
Show member pathways
10.89 EGFR KRAS
21 10.61 EGFR KRAS TP53

GO Terms for Pulmonary Blastoma

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

# Name GO ID Score Top Affiliating Genes
1 ERBB2 signaling pathway GO:0038128 9.32 EGFR KRAS
2 cellular response to reactive oxygen species GO:0034614 9.26 EGFR TP53
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.16 KRAS SYP
4 epithelial tube branching involved in lung morphogenesis GO:0060441 8.96 KRAS NKX2-1
5 cerebral cortex cell migration GO:0021795 8.62 EGFR NKX2-1

Sources for Pulmonary Blastoma

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