MCID: PLM032
MIFTS: 49

Pulmonary Blastoma

Categories: Cancer diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Blastoma

MalaCards integrated aliases for Pulmonary Blastoma:

Name: Pulmonary Blastoma 12 75 59 55 44 15 17 72
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
MESH via Orphanet 45 D018202
ICD10 via Orphanet 34 C34.1 C34.2 C34.3 more
UMLS via Orphanet 73 C0206629
Orphanet 59 ORPHA64741
UMLS 72 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 embryonal sarcoma, 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 Apoptosis Pathway and Proteoglycans in cancer. The drugs Trastuzumab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and brain, and related phenotypes are pulmonary infiltrates and cough

Wikipedia : 75 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 246)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 34.3 TP53 DICER1
2 embryonal sarcoma 30.5 TP53 DES
3 malignant mesenchymoma 30.5 TP53 DES
4 papillary adenocarcinoma 30.3 TP53 NKX2-1
5 spindle cell carcinoma 30.0 SYP DES ACTC1
6 spindle cell sarcoma 29.9 DES ACTC1
7 carcinosarcoma 29.7 TP53 KRAS DES ACTC1
8 rhabdomyosarcoma 29.6 TP53 DICER1 DES ACTC1
9 lung benign neoplasm 29.2 TP53 SYP NKX2-1 KRAS EGFR
10 lung cancer susceptibility 3 29.0 TP53 NKX2-1 KRAS EGFR
11 teratoma 29.0 TP53 SYP NKX2-1 ACTC1
12 small cell carcinoma 28.9 TP53 SYP NKX2-1 EGFR CALCA
13 small cell cancer of the lung 28.5 TP53 SYP NKX2-1 EGFR CALCA
14 classic pulmonary blastoma 12.6
15 epithelial predominant pulmonary blastoma 12.4
16 embryoma 11.1
17 pineal gland cancer 10.6 SYP DICER1
18 cellular ependymoma 10.6 TP53 SYP
19 male reproductive organ benign neoplasm 10.6 SYP DICER1
20 olfactory groove meningioma 10.5 TP53 SYP
21 cerebellum cancer 10.5 TP53 SYP
22 cerebral neuroblastoma 10.5 TP53 SYP
23 malignant teratoma 10.5 TP53 SYP
24 cerebral ventricle cancer 10.5 TP53 SYP
25 rhabdoid cancer 10.5 TP53 SYP
26 cystic nephroma 10.5 DICER1 DES
27 anterior cranial fossa meningioma 10.5 TP53 SYP
28 pineoblastoma 10.5 SYP DICER1
29 meningeal melanomatosis 10.5 TP53 SYP
30 pleomorphic xanthoastrocytoma 10.5 TP53 SYP
31 colloid adenoma 10.5 TP53 NKX2-1
32 papilloma of choroid plexus 10.5 TP53 SYP
33 adenocarcinoma 10.5
34 myxosarcoma 10.5 TP53 SYP
35 cervix small cell carcinoma 10.5 TP53 SYP
36 adenosarcoma 10.5 TP53 DES
37 desmoplastic small round cell tumor 10.5 SYP DES
38 chordoid glioma 10.5 TP53 NKX2-1
39 papillary serous adenocarcinoma 10.5 TP53 NKX2-1
40 small cell carcinoma of the bladder 10.5 SYP NKX2-1
41 cerebral primitive neuroectodermal tumor 10.5 TP53 SYP
42 cerebellar liponeurocytoma 10.5 TP53 SYP
43 central nervous system benign neoplasm 10.4 TP53 SYP
44 optic nerve neoplasm 10.4 TP53 SYP
45 well-differentiated fetal adenocarcinoma of the lung 10.4
46 mixed cell type cancer 10.4 TP53 SYP
47 rare adenocarcinoma of the breast 10.4 TP53 KRAS
48 pulmonary sclerosing hemangioma 10.4 SYP NKX2-1
49 sclerosing hemangioma 10.4 SYP NKX2-1
50 hyperplastic polyposis syndrome 10.4 TP53 KRAS

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

UMLS symptoms related to Pulmonary Blastoma:


fever, dyspnea, hemoptysis, coughing

MGI Mouse Phenotypes related to Pulmonary Blastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.95 ACTC1 DES DICER1 EGFR KRAS NKX2-1
2 cellular MP:0005384 9.91 ACTC1 DES DICER1 EGFR KRAS NKX2-1
3 muscle MP:0005369 9.8 ACTC1 DES DICER1 EGFR KRAS TP53
4 neoplasm MP:0002006 9.65 DICER1 EGFR KRAS NKX2-1 TP53
5 no phenotypic analysis MP:0003012 9.55 DICER1 EGFR KRAS NKX2-1 TP53
6 normal MP:0002873 9.5 ACTC1 DICER1 EGFR KRAS NKX2-1 SYP
7 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 30)
# 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 Antineoplastic Agents, Phytogenic Phase 2
5 Antibodies Phase 2
6 Maytansine Phase 2
7 Tubulin Modulators Phase 2
8 Antineoplastic Agents, Immunological Phase 2
9 Ado-trastuzumab emtansine Phase 2
10 Immunoglobulins Phase 2
11 Antibodies, Monoclonal Phase 2
12 Antimitotic Agents Phase 2
13
Ifosfamide Approved 3778-73-2 3690
14
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
15
Vincristine Approved, Investigational 57-22-7, 2068-78-2 5978
16
Dactinomycin Approved, Investigational 50-76-0 457193 2019
17
Doxorubicin Approved, Investigational 23214-92-8 31703
18
Mechlorethamine Approved, Investigational 51-75-2 4033
19
Liposomal doxorubicin 31703
20
Isophosphamide mustard 0
21 Alkylating Agents
22 Anti-Infective Agents
23 Anti-Bacterial Agents
24 Immunologic Factors
25 Immunosuppressive Agents
26 Antibiotics, Antitubercular
27 Nucleic Acid Synthesis Inhibitors
28 Topoisomerase Inhibitors
29 Antirheumatic Agents
30 Antineoplastic Agents, Alkylating

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2 Study of IMGN901 (Lorvotuzumab Mertansine; NSC#: 783609) in Children With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor (MPNST) and Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
2 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
3 Review of the Paediatric Pleuropulmonary Blastoma French Series Recruiting NCT03044834
4 Follow up of Congenital Lung Anomalies (CLA) With Antenatal Diagnosis - a Swiss Multicentric Database Recruiting NCT03044769
5 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
6 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
7 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
8 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Protocol Active, not recruiting NCT01464606 Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin

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, Fetal Lung, Brain, Lymph Node, Heart, Bone, Bronchial Epithelium

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 388)
# Title Authors PMID Year
1
Thyroid transcription factor-1 expression in pulmonary blastoma. 9 38
15140003 2004
2
Metachronous pleuropulmonary blastoma in an adult patient with endometrial cancer: a case report. 38
31281664 2019
3
Pulmonary Blastoma in an Adult Presenting With Hemoptysis and Hemothorax. 38
30365956 2019
4
[Current Status of Diagnosis and Treatment of Pulmonary Sarcomatoid Carcinoma]. 38
30591097 2018
5
Cure of Oligometastatic Classic Biphasic Pulmonary Blastoma Using Aggressive Tri-modality Treatment: Case Series and Review of the Literature. 38
30656089 2018
6
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. 38
29295663 2018
7
Classic biphasic pulmonary blastoma: A case report and review of the literature. 38
29650276 2018
8
[Pleuro-pulmonary blastoma presenting as a chest wall deformity: a case report]. 38
29799891 2018
9
Pulmonary blastoma in a child: Report of a case with cytological findings. 38
28898554 2018
10
A patient with classic biphasic pulmonary blastoma harboring CD74-ROS1 fusion responds to crizotinib. 38
29343973 2018
11
Comprehensive review of fetal adenocarcinoma of the lung. 38
30197546 2018
12
Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use. 38
29046943 2017
13
[Surgical Case of Pulmonary Blastoma;Report of a Case]. 38
29249794 2017
14
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. 38
28675947 2017
15
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. 38
29390280 2017
16
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. 38
29299105 2017
17
A Rare Case of Sarcomatoid Carcinoma of the Lung with Spine Metastasis, Including a Literature Review. 38
28684728 2017
18
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. 38
28543815 2017
19
Sarcomatoid carcinoma of the lung: a rare histological subtype of non-small cell lung cancer with a poor prognosis even at earlier tumour stages. 38
28025310 2017
20
[Pneumoblastoma in adults: a new case report and literature review]. 38
29610636 2017
21
What do we know about pulmonary blastoma?: review of literature and clinical case report. 38
28008207 2016
22
[Fetal adenocarcinoma of the lung: a clinicopathologic analysis of six cases]. 38
27646890 2016
23
Somatic DICER1 mutations in adult-onset pulmonary blastoma. 38
27126690 2016
24
[Clinical analysis of 6 pulmonary blastoma patients]. 38
26796805 2016
25
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. 38
26768884 2016
26
[Pulmonary sarcomatoid carcinoma]. 38
26778815 2016
27
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. 38
27877056 2016
28
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. 38
26504071 2015
29
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. 38
26254381 2015
30
Selective dicer suppression in the kidney alters GSK3β/β-catenin pathways promoting a glomerulocystic disease. 38
25799508 2015
31
Infant pleuropulmonary blastoma: report of a rare case and review of literature. 38
26722577 2015
32
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. 38
27532029 2015
33
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. 38
26075125 2015
34
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. 38
25755806 2015
35
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. 38
25493248 2014
36
[Case report of pulmonary biphasic tumor with unusual follow-up]. 38
24646787 2014
37
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. 38
26842180 2014
38
[Acute affection of the thorax in children for pulmonary blastoma]. 38
25167353 2014
39
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. 38
24895392 2014
40
Pulmonary blastoma: a case report and review of the literature. 38
24885892 2014
41
Neoadjuvant chemotherapy in well-differentiated fetal adenocarcinoma: a case report. 38
24886749 2014
42
Discoid lupus and pulmonary blastoma in an elderly patient. 38
24771745 2014
43
Classic biphasic pulmonary blastoma demonstrated by 18F-FDG PET/CT. 38
23989445 2014
44
[Sarcomatoid carcinoma of the lung: retrospective study of 28 cases]. 38
24703022 2014
45
Diagnosis and multi-modality treatment of adult pulmonary plastoma: Analysis of 18 cases and review of literature. 38
24461533 2014
46
Biphasic pulmonary blastoma: An unusual presentation with chest wall, rib, and pleural involvement. 38
24669096 2014
47
Pulmonary adenofibroma: cytologic and clinicopathologic features of a rare benign primary lung lesion. 38
22645035 2013
48
Pulmonary sarcomatoid carcinoma: a clinicopathologic study and prognostic analysis of 51 cases. 38
24088577 2013
49
18F-FDG PET/CT appearances of adult pulmonary blastoma. 38
23751833 2013
50
A rare occurrence of biphasic pulmonary blastoma in an elderly male. 38
24023328 2013

Variations for Pulmonary Blastoma

Expression for Pulmonary Blastoma

Search GEO for disease gene expression data for Pulmonary Blastoma.

Pathways for Pulmonary Blastoma

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 positive regulation of gene expression GO:0010628 9.46 TP53 NKX2-1 KRAS ACTC1
2 muscle filament sliding GO:0030049 9.4 DES ACTC1
3 positive regulation of blood vessel diameter GO:0097755 9.37 EGFR CALCA
4 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 SYP KRAS
5 epithelial tube branching involved in lung morphogenesis GO:0060441 9.26 NKX2-1 KRAS
6 regulation of heart contraction GO:0008016 9.13 DES
7 cerebral cortex cell migration GO:0021795 8.96 NKX2-1 EGFR
8 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 8.62 TP53 EGFR

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 TP53 SYP EGFR DES CALCA

Sources for Pulmonary Blastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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