MCID: PLM032
MIFTS: 53

Pulmonary Blastoma

Categories: Cancer diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Blastoma

MalaCards integrated aliases for Pulmonary Blastoma:

Name: Pulmonary Blastoma 12 77 60 56 45 15 17 74
Blastoma of Lung 12
Pneumoblastoma 60

Characteristics:

Orphanet epidemiological data:

60
pulmonary blastoma
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 60  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4765
MeSH 45 D018202
NCIt 51 C3732
SNOMED-CT 69 43149009
MESH via Orphanet 46 D018202
ICD10 via Orphanet 35 C34.1 C34.2 C34.3 more
UMLS via Orphanet 75 C0206629
Orphanet 60 ORPHA64741
UMLS 74 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 spindle cell carcinoma, 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 ErbB signaling pathway and mTOR signaling pathway (KEGG). The drugs Trastuzumab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and thyroid, and related phenotypes are hemoptysis and chest pain

Wikipedia : 77 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 217)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 33.7 DICER1 TP53
2 spindle cell carcinoma 30.6 DES SYP
3 carcinosarcoma 30.4 DES KRAS TP53
4 adenocarcinoma 29.7 EGFR KRAS TP53
5 embryonal sarcoma 29.6 DES TP53
6 small cell carcinoma 28.8 CHGA EGFR NKX2-1 SYP TP53
7 classic pulmonary blastoma 12.5
8 epithelial predominant pulmonary blastoma 12.3
9 embryoma 11.1
10 sex cord-gonadal stromal tumor 10.4 DICER1 SYP
11 central nervous system benign neoplasm 10.3 SYP TP53
12 mixed cell type cancer 10.3 SYP TP53
13 atypical teratoid rhabdoid tumor 10.3 SYP TP53
14 optic nerve neoplasm 10.3 SYP TP53
15 adult medulloblastoma 10.3 SYP TP53
16 infratentorial cancer 10.3 SYP TP53
17 optic nerve glioma 10.3 SYP TP53
18 cerebral primitive neuroectodermal tumor 10.3 SYP TP53
19 muscle cancer 10.3 DES TP53
20 malignant mesenchymoma 10.3 DES TP53
21 multinodular goiter 10.3 DICER1 NKX2-1
22 cerebellum cancer 10.3 SYP TP53
23 papillary adenocarcinoma 10.3 NKX2-1 TP53
24 acinar cell carcinoma 10.3 CHGA TP53
25 pineal gland cancer 10.3 DICER1 SYP
26 cerebral neuroblastoma 10.3 SYP TP53
27 male reproductive organ benign neoplasm 10.3 DICER1 SYP
28 malignant teratoma 10.3 SYP TP53
29 cerebral ventricle cancer 10.3 SYP TP53
30 malignant pheochromocytoma 10.2 CHGA SYP
31 endocrine organ benign neoplasm 10.2 CHGA SYP
32 cranial nerve malignant neoplasm 10.2 CHGA SYP
33 olfactory neuroblastoma 10.2 CHGA SYP
34 ganglioneuroma 10.2 CHGA SYP
35 tubular adenocarcinoma 10.2 CHGA SYP
36 gastric tubular adenocarcinoma 10.2 CHGA SYP
37 glycogen-rich clear cell breast carcinoma 10.2 SYP TP53
38 mixed ductal-endocrine carcinoma 10.2 CHGA SYP
39 cystic nephroma 10.2 DES DICER1
40 rhabdoid cancer 10.2 SYP TP53
41 ureter small cell carcinoma 10.2 CHGA SYP
42 ovarian cancer 1 10.2 KRAS TP53
43 ovarian clear cell carcinoma 10.2 KRAS TP53
44 colloid adenoma 10.2 NKX2-1 TP53
45 ampulla of vater cancer 10.2 KRAS TP53
46 esophageal neuroendocrine tumor 10.2 CHGA SYP
47 malignant ovarian surface epithelial-stromal neoplasm 10.2 KRAS TP53
48 ovary epithelial cancer 10.2 KRAS TP53
49 liver angiosarcoma 10.2 KRAS TP53
50 pseudomyxoma peritonei 10.2 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:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hemoptysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002105
2 chest pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0100749
3 cough 60 33 hallmark (90%) Very frequent (99-80%) HP:0012735
4 pulmonary infiltrates 60 33 hallmark (90%) Very frequent (99-80%) HP:0002113
5 pleuropulmonary blastoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100528
6 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
7 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
8 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
9 recurrent pneumonia 60 33 frequent (33%) Frequent (79-30%) HP:0006532

UMLS symptoms related to Pulmonary Blastoma:


fever, dyspnea, hemoptysis, coughing

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

27
# 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:

47 (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 29)
# 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 Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
4 Immunoglobulins Phase 2
5 Ado-trastuzumab emtansine Phase 2
6 Maytansine Phase 2
7 Antineoplastic Agents, Phytogenic Phase 2,Not Applicable
8 Antibodies, Monoclonal Phase 2
9 Antibodies Phase 2
10 Antimitotic Agents Phase 2,Not Applicable
11 Antineoplastic Agents, Immunological Phase 2
12
Dactinomycin Approved, Investigational ,Not Applicable 50-76-0 457193 2019
13
Vincristine Approved, Investigational ,Not Applicable 2068-78-2, 57-22-7 5978
14
Ifosfamide Approved ,Not Applicable 3778-73-2 3690
15
Doxorubicin Approved, Investigational ,Not Applicable 23214-92-8 31703
16
Cyclophosphamide Approved, Investigational ,Not Applicable 50-18-0, 6055-19-2 2907
17
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
18
Doxil Approved June 1999 ,Not Applicable 31703
19
Isophosphamide mustard ,Not Applicable 0
20 Antineoplastic Agents, Alkylating Not Applicable
21 Nucleic Acid Synthesis Inhibitors Not Applicable
22 Anti-Infective Agents Not Applicable
23 Alkylating Agents Not Applicable
24 Anti-Bacterial Agents Not Applicable
25 Immunosuppressive Agents Not Applicable
26 Immunologic Factors Not Applicable
27 Topoisomerase Inhibitors Not Applicable
28 Antibiotics, Antitubercular Not Applicable
29 Antirheumatic Agents 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 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
5 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
6 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769
7 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
8 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Active, not recruiting NCT01464606 Not Applicable Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
9 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903

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:

42
Lung, Brain, Thyroid, Ovary, Fetal Lung, Lymph Node, Bronchial Epithelium

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 221)
# Title Authors Year
1
Pulmonary Blastoma in an Adult Presenting With Hemoptysis and Hemothorax. ( 30365956 )
2019
2
Pulmonary blastoma in a child: Report of a case with cytological findings. ( 28898554 )
2018
3
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. ( 29295663 )
2018
4
A patient with classic biphasic pulmonary blastoma harboring CD74-ROS1 fusion responds to crizotinib. ( 29343973 )
2018
5
Classic biphasic pulmonary blastoma: A case report and review of the literature. ( 29650276 )
2018
6
Cure of Oligometastatic Classic Biphasic Pulmonary Blastoma Using Aggressive Tri-modality Treatment: Case Series and Review of the Literature. ( 30656089 )
2018
7
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. ( 28543815 )
2017
8
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. ( 28675947 )
2017
9
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. ( 29299105 )
2017
10
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. ( 29390280 )
2017
11
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
12
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
13
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
14
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
15
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
16
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. ( 25755806 )
2015
17
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. ( 26075125 )
2015
18
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. ( 26254381 )
2015
19
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. ( 26504071 )
2015
20
Classic biphasic pulmonary blastoma demonstrated by 18F-FDG PET/CT. ( 23989445 )
2014
21
Biphasic pulmonary blastoma: An unusual presentation with chest wall, rib, and pleural involvement. ( 24669096 )
2014
22
Discoid lupus and pulmonary blastoma in an elderly patient. ( 24771745 )
2014
23
Pulmonary blastoma: a case report and review of the literature. ( 24885892 )
2014
24
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. ( 24895392 )
2014
25
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. ( 25493248 )
2014
26
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. ( 26842180 )
2014
27
Radiographic illusion of cardiomegaly resulting from a pulmonary blastoma in a patient imaged for evaluation of chronic bronchitis. ( 23887987 )
2013
28
Adult biphasic pulmonary blastoma. ( 23427368 )
2013
29
18F-FDG PET/CT appearances of adult pulmonary blastoma. ( 23751833 )
2013
30
Primary pulmonary blastoma of monophasic variety--diagnosis and management. ( 23758909 )
2013
31
A rare occurrence of biphasic pulmonary blastoma in an elderly male. ( 24023328 )
2013
32
Classic pulmonary blastoma: a subtype of biphasic pulmonary blastoma. ( 22001215 )
2012
33
Pulmonary blastoma with submandibular, scrotum and adrenal metastases: case report. ( 21447935 )
2012
34
Pulmonary blastoma in a young adult. ( 23008928 )
2012
35
Pulmonary blastoma: a rare primary lung malignancy. ( 23049565 )
2012
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
Establishment and phenotypic characterization of the first human pulmonary blastoma cell line. ( 20724021 )
2011
39
Expression and mutation analysis of EGFR, c-KIT, and β-catenin in pulmonary blastoma. ( 21292787 )
2011
40
Classic biphasic pulmonary blastoma: a case report and review of the literature. ( 21513998 )
2011
41
[Biphasic pulmonary blastoma with germ cell differentiation: a challenge in diagnosis and treatment]. ( 22856413 )
2011
42
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. ( 19902198 )
2010
43
Fine-needle aspiration of classic biphasic pulmonary blastoma. ( 19937760 )
2010
44
Preoperative radiation therapy and chemotherapy for pulmonary blastoma: a case report. ( 20101153 )
2010
45
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. ( 20395246 )
2010
46
Pulmonary blastoma with yolk sac elements. ( 21045461 )
2010
47
Pulmonary blastoma metastatic to the ovary. ( 19047906 )
2009
48
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. ( 19202177 )
2009
49
Biphasic pulmonary blastoma with rapid progression. ( 19214452 )
2009
50
Pulmonary blastoma with endobronchial growth. ( 19333073 )
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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 EGFR KRAS TP53
2
Show member pathways
12.23 EGFR KRAS TP53
3
Show member pathways
12.16 EGFR KRAS TP53
4
Show member pathways
12.13 DES EGFR KRAS
5 11.96 EGFR KRAS TP53
6
Show member pathways
11.93 EGFR KRAS TP53
7 11.83 EGFR KRAS TP53
8 11.79 EGFR KRAS TP53
9 11.77 EGFR KRAS TP53
10 11.73 DICER1 EGFR KRAS TP53
11
Show member pathways
11.64 EGFR KRAS TP53
12 11.54 EGFR KRAS TP53
13 11.28 EGFR KRAS
14 11.22 EGFR KRAS
15 11.2 EGFR KRAS TP53
16 11.05 EGFR TP53
17 11 EGFR KRAS
18 10.94 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:

# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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