MCID: PLM032
MIFTS: 53

Pulmonary Blastoma

Categories: Respiratory diseases, Rare diseases, Cancer 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 189815007 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 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 embryonal sarcoma, and has symptoms including coughing, dyspnea and fever. 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 Trastuzumab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and fetal lung, and related phenotypes are weight loss and fever

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 209)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 34.1 DICER1 TP53
2 embryonal sarcoma 30.3 DES TP53
3 spindle cell carcinoma 30.0 DES SYP
4 embryoma 30.0 DICER1 NKX2-1 SYP
5 adenocarcinoma 28.7 EGFR KRAS TP53
6 small cell carcinoma 27.3 CHGA EGFR NKX2-1 SYP TP53
7 classic pulmonary blastoma 12.2
8 epithelial predominant pulmonary blastoma 12.1
9 pineal gland cancer 10.7 DICER1 SYP
10 cerebellum cancer 10.6 SYP TP53
11 cerebral neuroblastoma 10.6 SYP TP53
12 cerebral ventricle cancer 10.6 SYP TP53
13 cerebrum cancer 10.6 SYP TP53
14 supratentorial cancer 10.6 SYP TP53
15 glycogen-rich clear cell breast carcinoma 10.6 SYP TP53
16 cystic nephroma 10.6 DES DICER1
17 pineoblastoma 10.6 DICER1 SYP
18 meningeal melanomatosis 10.6 SYP TP53
19 central nervous system organ benign neoplasm 10.6 SYP TP53
20 papilloma of choroid plexus 10.6 SYP TP53
21 myxosarcoma 10.5 SYP TP53
22 dedifferentiated liposarcoma 10.5 DES TP53
23 ovarian small cell carcinoma 10.5 DES SYP
24 adenosarcoma 10.5 DES TP53
25 cerebral primitive neuroectodermal tumor 10.5 SYP TP53
26 optic nerve neoplasm 10.5 SYP TP53
27 olfactory groove meningioma 10.5 CHGA TP53
28 desmoplastic small round cell tumor 10.5 DES SYP
29 perivascular epithelioid cell tumor 10.5 DES SYP
30 papillary serous adenocarcinoma 10.5 NKX2-1 TP53
31 chordoid glioma 10.5 NKX2-1 TP53
32 esophageal neuroendocrine tumor 10.5 CHGA SYP
33 ureter small cell carcinoma 10.5 CHGA SYP
34 urinary bladder small cell neuroendocrine carcinoma 10.5 CHGA SYP
35 anterior cranial fossa meningioma 10.5 CHGA TP53
36 ovarian large-cell neuroendocrine carcinoma 10.5 CHGA SYP
37 auditory system cancer 10.5 CHGA SYP
38 adenoma of the pancreas 10.5 CHGA SYP
39 acinar cell cystadenocarcinoma 10.5 CHGA SYP
40 peritoneal serous adenocarcinoma 10.5 CHGA SYP
41 gallbladder small cell carcinoma 10.5 CHGA SYP
42 primary hepatic neuroendocrine carcinoma 10.5 CHGA SYP
43 gastrointestinal neuroendocrine tumor 10.5 CHGA SYP
44 pulmonary large cell neuroendocrine carcinoma 10.5 CHGA SYP
45 chordoid meningioma 10.5 CHGA SYP
46 olfactory nerve neoplasm 10.5 CHGA SYP
47 cauda equina neoplasm 10.5 CHGA SYP
48 pancreatic serous cystadenoma 10.5 CHGA SYP
49 malignant teratoma 10.5 NKX2-1 SYP
50 conventional angiosarcoma 10.5 CHGA SYP

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

UMLS symptoms related to Pulmonary Blastoma:


coughing, dyspnea, fever, hemoptysis

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

Drugs & Therapeutics for Pulmonary Blastoma

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

(show all 26)
# 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 Antimitotic Agents Phase 2,Not Applicable
4 Antineoplastic Agents, Phytogenic Phase 2,Not Applicable
5 Ado-trastuzumab emtansine Phase 2
6 Antibodies Phase 2
7 Immunoglobulins Phase 2
8 Antibodies, Monoclonal Phase 2
9 Maytansine Phase 2
10
Doxorubicin Approved, Investigational Not Applicable 23214-92-8 31703
11
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
12
Ifosfamide Approved Not Applicable 3778-73-2 3690
13
Vincristine Approved, Investigational Not Applicable 2068-78-2, 57-22-7 5978
14
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
15
Dactinomycin Approved, Investigational Not Applicable 50-76-0 2019 457193
16
Doxil Approved June 1999 Not Applicable 31703
17
Isophosphamide mustard Not Applicable 0
18 Alkylating Agents Not Applicable
19 Topoisomerase Inhibitors Not Applicable
20 Nucleic Acid Synthesis Inhibitors Not Applicable
21 Anti-Bacterial Agents Not Applicable
22 Antibiotics, Antitubercular Not Applicable
23 Immunosuppressive Agents Not Applicable
24 Anti-Infective Agents Not Applicable
25 Antirheumatic Agents Not Applicable
26 Antineoplastic Agents, Alkylating 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, Fetal Lung, Ovary, Thyroid, Liver, Lymph Node

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 216)
# 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
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. ( 29390280 )
2017
4
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. ( 28675947 )
2017
5
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. ( 28543815 )
2017
6
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. ( 29295663 )
2017
7
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. ( 29299105 )
2017
8
Pulmonary blastoma in a child: Report of a case with cytological findings. ( 28898554 )
2017
9
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
10
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
11
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
12
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
13
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. ( 26254381 )
2015
14
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. ( 26504071 )
2015
15
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. ( 26075125 )
2015
16
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
17
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. ( 25755806 )
2015
18
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. ( 24895392 )
2014
19
Discoid lupus and pulmonary blastoma in an elderly patient. ( 24771745 )
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
Biphasic pulmonary blastoma: An unusual presentation with chest wall, rib, and pleural involvement. ( 24669096 )
2014
23
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. ( 25493248 )
2014
24
A rare occurrence of biphasic pulmonary blastoma in an elderly male. ( 24023328 )
2013
25
18F-FDG PET/CT appearances of adult pulmonary blastoma. ( 23751833 )
2013
26
Radiographic illusion of cardiomegaly resulting from a pulmonary blastoma in a patient imaged for evaluation of chronic bronchitis. ( 23887987 )
2013
27
Classic Biphasic Pulmonary Blastoma Demonstrated by 18F-FDG PET/CT. ( 23989445 )
2013
28
Primary pulmonary blastoma of monophasic variety--diagnosis and management. ( 23758909 )
2013
29
Adult biphasic pulmonary blastoma. ( 23427368 )
2013
30
Pulmonary blastoma: a rare primary lung malignancy. ( 23049565 )
2012
31
Pulmonary blastoma in a young adult. ( 23008928 )
2012
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
[Biphasic pulmonary blastoma with germ cell differentiation: a challenge in diagnosis and treatment]. ( 22856413 )
2011
35
Pneumothorax in a child with pulmonary blastoma. ( 21349540 )
2011
36
Establishment and phenotypic characterization of the first human pulmonary blastoma cell line. ( 20724021 )
2011
37
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. ( 21292787 )
2011
38
Classic biphasic pulmonary blastoma: a case report and review of the literature. ( 21513998 )
2011
39
Pulmonary blastoma in adult: dramatic but transient response to doxorubicin plus ifosfamide. ( 20670092 )
2011
40
Preoperative radiation therapy and chemotherapy for pulmonary blastoma: a case report. ( 20101153 )
2010
41
A rare association; pulmonary blastoma developing on extrapulmonary sequestration basis. ( 20395246 )
2010
42
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. ( 19902198 )
2010
43
Pulmonary blastoma with yolk sac elements. ( 21045461 )
2010
44
Fine-needle aspiration of classic biphasic pulmonary blastoma. ( 19937760 )
2010
45
Clinical, pathological and immunohistochemical features of a pulmonary blastoma in a horse. ( 19202177 )
2009
46
Cytologic features of pulmonary blastoma. ( 21938157 )
2009
47
Pulmonary blastoma metastatic to the ovary. ( 19047906 )
2009
48
Pulmonary blastoma with endobronchial growth. ( 19333073 )
2009
49
Biphasic pulmonary blastoma with rapid progression. ( 19214452 )
2009
50
Radical resection of a pulmonary blastoma involving the pulmonary artery. ( 18579394 )
2008

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 EGFR KRAS TP53
2
Show member pathways
12.19 EGFR KRAS TP53
3
Show member pathways
12.16 EGFR KRAS TP53
4
Show member pathways
12.13 DES EGFR KRAS
5 11.94 EGFR KRAS TP53
6 11.84 EGFR KRAS TP53
7 11.83 EGFR KRAS TP53
8 11.77 EGFR KRAS TP53
9 11.73 DICER1 EGFR KRAS TP53
10 11.66 EGFR KRAS TP53
11 11.54 EGFR KRAS TP53
12 11.2 EGFR KRAS
13 11.2 EGFR KRAS TP53
14 11.05 EGFR TP53
15 11 EGFR KRAS
16 10.93 EGFR KRAS
17
Show member pathways
10.89 EGFR KRAS
18 10.85 EGFR KRAS TP53
19 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 9.26 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

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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