MCID: PLM032
MIFTS: 54

Pulmonary Blastoma

Categories: Cancer diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Blastoma

MalaCards integrated aliases for Pulmonary Blastoma:

Name: Pulmonary Blastoma 12 76 59 55 44 15 73
Blastoma of Lung 12
Pneumoblastoma 59

Characteristics:

Orphanet epidemiological data:

59
pulmonary blastoma
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4765
MeSH 44 D018202
NCIt 50 C3732
SNOMED-CT 68 43149009
Orphanet 59 ORPHA64741
ICD10 via Orphanet 34 C34.2 C34.8 C34.9 more
MESH via Orphanet 45 D018202
UMLS via Orphanet 74 C0206629
UMLS 73 C0206629

Summaries for Pulmonary Blastoma

Disease Ontology : 12 A lung cancer that has material basis in tissues of the lung and has material basis in pleural tissues. It is most commonly effects children.

MalaCards based summary : Pulmonary Blastoma, also known as blastoma of lung, is related to pleuropulmonary blastoma and carcinosarcoma, and has symptoms including fever, dyspnea and hemoptysis. An important gene associated with Pulmonary Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and ErbB signaling pathway. The drugs Trastuzumab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and liver, and related phenotypes are fever and dyspnea

Wikipedia : 76 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 218)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 33.5 DICER1 TP53
2 carcinosarcoma 30.4 DES KRAS TP53
3 spindle cell carcinoma 30.4 DES SYP
4 adenocarcinoma 29.8 EGFR KRAS TP53
5 embryonal sarcoma 29.8 DES TP53
6 small cell carcinoma 29.1 CHGA EGFR NKX2-1 SYP TP53
7 classic pulmonary blastoma 12.4
8 epithelial predominant pulmonary blastoma 12.2
9 embryoma 10.5
10 sex cord-gonadal stromal tumor 10.2 DICER1 SYP
11 mixed cell type cancer 10.2 SYP TP53
12 atypical teratoid rhabdoid tumor 10.2 SYP TP53
13 optic nerve neoplasm 10.2 SYP TP53
14 adult medulloblastoma 10.2 SYP TP53
15 infratentorial cancer 10.2 SYP TP53
16 optic nerve glioma 10.2 SYP TP53
17 cerebral primitive neuroectodermal tumor 10.2 SYP TP53
18 muscle cancer 10.2 DES TP53
19 malignant mesenchymoma 10.2 DES TP53
20 pineal gland cancer 10.2 DICER1 SYP
21 cerebellum cancer 10.2 SYP TP53
22 male reproductive organ benign neoplasm 10.2 DICER1 SYP
23 cerebral neuroblastoma 10.2 SYP TP53
24 papillary adenocarcinoma 10.2 NKX2-1 TP53
25 acinar cell carcinoma 10.2 CHGA TP53
26 malignant teratoma 10.2 SYP TP53
27 cerebral ventricle cancer 10.2 SYP TP53
28 nervous system benign neoplasm 10.2 SYP TP53
29 endocrine organ benign neoplasm 10.2 CHGA SYP
30 malignant pheochromocytoma 10.2 CHGA SYP
31 cranial nerve malignant neoplasm 10.2 CHGA SYP
32 olfactory neuroblastoma 10.2 CHGA SYP
33 glycogen-rich clear cell breast carcinoma 10.2 SYP TP53
34 ganglioneuroma 10.2 CHGA SYP
35 tubular adenocarcinoma 10.2 CHGA SYP
36 gastric tubular adenocarcinoma 10.2 CHGA SYP
37 mixed ductal-endocrine carcinoma 10.2 CHGA SYP
38 cystic nephroma 10.2 DES DICER1
39 rhabdoid cancer 10.2 SYP TP53
40 ureter small cell carcinoma 10.1 CHGA SYP
41 benign glioma 10.1 SYP TP53
42 colloid adenoma 10.1 NKX2-1 TP53
43 ovarian cancer 1 10.1 KRAS TP53
44 biliary tract neoplasm 10.1 KRAS TP53
45 ovarian clear cell carcinoma 10.1 KRAS TP53
46 ampulla of vater cancer 10.1 KRAS TP53
47 esophageal neuroendocrine tumor 10.1 CHGA SYP
48 malignant ovarian surface epithelial-stromal neoplasm 10.1 KRAS TP53
49 ovary epithelial cancer 10.1 KRAS TP53
50 liver angiosarcoma 10.1 KRAS 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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
2 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
3 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
4 hemoptysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002105
5 chest pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0100749
6 recurrent pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0006532
7 cough 59 32 hallmark (90%) Very frequent (99-80%) HP:0012735
8 pulmonary infiltrates 59 32 hallmark (90%) Very frequent (99-80%) HP:0002113
9 pleuropulmonary blastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100528

UMLS symptoms related to Pulmonary Blastoma:


fever, dyspnea, hemoptysis, coughing

GenomeRNAi Phenotypes related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CHGA DES DICER1 EGFR KRAS

MGI Mouse Phenotypes related to Pulmonary Blastoma:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.05 CHGA DES DICER1 EGFR KRAS NKX2-1
2 homeostasis/metabolism MP:0005376 10.02 CHGA DES DICER1 EGFR KRAS NKX2-1
3 mortality/aging MP:0010768 10 CHGA DES DICER1 EGFR KRAS NKX2-1
4 endocrine/exocrine gland MP:0005379 9.97 CHGA DICER1 EGFR KRAS NKX2-1 TP53
5 muscle MP:0005369 9.91 CHGA DES DICER1 EGFR KRAS TP53
6 nervous system MP:0003631 9.91 CHGA DICER1 EGFR KRAS NKX2-1 SYP
7 neoplasm MP:0002006 9.8 DICER1 EGFR KRAS NKX2-1 TP53
8 no phenotypic analysis MP:0003012 9.8 CHGA DICER1 EGFR KRAS NKX2-1 TP53
9 normal MP:0002873 9.73 DICER1 EGFR KRAS NKX2-1 SYP TP53
10 renal/urinary system MP:0005367 9.55 CHGA DICER1 EGFR KRAS TP53
11 reproductive system MP:0005389 9.43 CHGA DICER1 EGFR KRAS NKX2-1 TP53
12 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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
2
Adenosine Approved, Investigational Phase 2 58-61-7 60961
3 Antineoplastic Agents, Phytogenic Phase 2,Not Applicable
4 Antimitotic Agents Phase 2,Not Applicable
5 Antibodies Phase 2
6 Maytansine Phase 2
7 Ado-trastuzumab emtansine Phase 2
8 Immunoglobulins Phase 2
9 Antibodies, Monoclonal Phase 2
10
Dactinomycin Approved, Investigational Not Applicable 50-76-0 457193 2019
11
Doxorubicin Approved, Investigational Not Applicable 23214-92-8 31703
12
Vincristine Approved, Investigational Not Applicable 57-22-7, 2068-78-2 5978
13
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
14
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
15
Ifosfamide Approved Not Applicable 3778-73-2 3690
16
Doxil Approved June 1999 Not Applicable 31703
17 Immunologic Factors Not Applicable
18
Isophosphamide mustard Not Applicable 0
19 Anti-Infective Agents Not Applicable
20 Alkylating Agents Not Applicable
21 Antirheumatic Agents Not Applicable
22 Antibiotics, Antitubercular Not Applicable
23 Nucleic Acid Synthesis Inhibitors Not Applicable
24 Anti-Bacterial Agents Not Applicable
25 Antineoplastic Agents, Alkylating Not Applicable
26 Immunosuppressive Agents Not Applicable
27 Topoisomerase Inhibitors Not Applicable

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 Not Applicable 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:

41
Lung, Brain, Liver, Ovary, Thyroid, Bone, Pancreas

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 220)
# Title Authors Year
1
A patient with classic biphasic pulmonary blastoma harboring<i>CD74-ROS1</i>fusion responds to crizotinib. ( 29343973 )
2018
2
Classic biphasic pulmonary blastoma: A case report and review of the literature. ( 29650276 )
2018
3
Pulmonary Blastoma in an Adult Presenting with Hemoptysis and Hemothorax. ( 30365956 )
2018
4
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. ( 29390280 )
2017
5
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. ( 28675947 )
2017
6
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. ( 28543815 )
2017
7
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. ( 29295663 )
2017
8
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. ( 29299105 )
2017
9
Pulmonary blastoma in a child: Report of a case with cytological findings. ( 28898554 )
2017
10
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
11
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
12
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
13
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
14
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. ( 26254381 )
2015
15
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. ( 26504071 )
2015
16
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. ( 26075125 )
2015
17
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
18
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. ( 25755806 )
2015
19
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. ( 24895392 )
2014
20
Discoid lupus and pulmonary blastoma in an elderly patient. ( 24771745 )
2014
21
Pulmonary blastoma: a case report and review of the literature. ( 24885892 )
2014
22
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. ( 26842180 )
2014
23
Biphasic pulmonary blastoma: An unusual presentation with chest wall, rib, and pleural involvement. ( 24669096 )
2014
24
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. ( 25493248 )
2014
25
A rare occurrence of biphasic pulmonary blastoma in an elderly male. ( 24023328 )
2013
26
18F-FDG PET/CT appearances of adult pulmonary blastoma. ( 23751833 )
2013
27
Radiographic illusion of cardiomegaly resulting from a pulmonary blastoma in a patient imaged for evaluation of chronic bronchitis. ( 23887987 )
2013
28
Classic Biphasic Pulmonary Blastoma Demonstrated by 18F-FDG PET/CT. ( 23989445 )
2013
29
Primary pulmonary blastoma of monophasic variety--diagnosis and management. ( 23758909 )
2013
30
Adult biphasic pulmonary blastoma. ( 23427368 )
2013
31
Pulmonary blastoma: a rare primary lung malignancy. ( 23049565 )
2012
32
Pulmonary blastoma in a young adult. ( 23008928 )
2012
33
Classic pulmonary blastoma: a subtype of biphasic pulmonary blastoma. ( 22001215 )
2012
34
Pulmonary blastoma with submandibular, scrotum and adrenal metastases: case report. ( 21447935 )
2012
35
[Biphasic pulmonary blastoma with germ cell differentiation: a challenge in diagnosis and treatment]. ( 22856413 )
2011
36
Pneumothorax in a child with pulmonary blastoma. ( 21349540 )
2011
37
Establishment and phenotypic characterization of the first human pulmonary blastoma cell line. ( 20724021 )
2011
38
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. ( 21292787 )
2011
39
Classic biphasic pulmonary blastoma: a case report and review of the literature. ( 21513998 )
2011
40
Pulmonary blastoma in adult: dramatic but transient response to doxorubicin plus ifosfamide. ( 20670092 )
2011
41
Preoperative radiation therapy and chemotherapy for pulmonary blastoma: a case report. ( 20101153 )
2010
42
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. ( 20395246 )
2010
43
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. ( 19902198 )
2010
44
Pulmonary blastoma with yolk sac elements. ( 21045461 )
2010
45
Fine-needle aspiration of classic biphasic pulmonary blastoma. ( 19937760 )
2010
46
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. ( 19202177 )
2009
47
Cytologic features of pulmonary blastoma. ( 21938157 )
2009
48
Pulmonary blastoma metastatic to the ovary. ( 19047906 )
2009
49
Pulmonary blastoma with endobronchial growth. ( 19333073 )
2009
50
Biphasic pulmonary blastoma with rapid progression. ( 19214452 )
2009

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 EGFR KRAS TP53
2
Show member pathways
12.21 EGFR KRAS TP53
3
Show member pathways
12.16 EGFR KRAS TP53
4
Show member pathways
12.14 DES EGFR KRAS
5 11.97 EGFR KRAS TP53
6
Show member pathways
11.94 EGFR KRAS TP53
7 11.85 EGFR KRAS TP53
8 11.81 EGFR KRAS TP53
9 11.8 EGFR KRAS TP53
10 11.73 DICER1 EGFR KRAS TP53
11
Show member pathways
11.68 EGFR KRAS TP53
12 11.66 EGFR KRAS TP53
13 11.54 EGFR KRAS TP53
14 11.29 EGFR KRAS
15 11.21 EGFR KRAS
16 11.2 EGFR KRAS TP53
17 11.07 EGFR TP53
18 11.01 EGFR KRAS
19 10.96 EGFR KRAS
20
Show member pathways
10.93 EGFR KRAS
21 10.85 EGFR KRAS TP53
22 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 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 KRAS SYP
2 epithelial tube branching involved in lung morphogenesis GO:0060441 9.16 KRAS NKX2-1
3 cerebral cortex cell migration GO:0021795 8.96 EGFR NKX2-1
4 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 8.62 EGFR TP53

Sources for Pulmonary Blastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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