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MCID: PLM032
MIFTS: 48

Pulmonary Blastoma

Categories: Cancer diseases, Rare diseases, Respiratory diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pulmonary Blastoma

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MalaCards integrated aliases for Pulmonary Blastoma:

Name: Pulmonary Blastoma 12 74 58 54 43 15 17 71
Blastoma of Lung 12
Pneumoblastoma 58

Characteristics:

Orphanet epidemiological data:

58
pulmonary blastoma
Inheritance: Multigenic/multifactorial; Age of onset: Adult; Age of death: adult;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4765
MeSH 43 D018202
NCIt 49 C3732
SNOMED-CT 67 189815007 43149009
MESH via Orphanet 44 D018202
ICD10 via Orphanet 33 C34.1 C34.2 C34.3 more
UMLS via Orphanet 72 C0206629
Orphanet 58 ORPHA64741
UMLS 71 C0206629
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Summaries for Pulmonary Blastoma

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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 rare tumor 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 MicroRNAs in cancer and Alzheimers Disease. 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 : 74 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

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Related Diseases for Pulmonary Blastoma

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Diseases related to Pulmonary Blastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 385)
# Related Disease Score Top Affiliating Genes
1 rare tumor 31.1 SST DES ACTC1
2 carcinosarcoma 30.8 TP53 KRAS EGFR DES ACTC1
3 spindle cell carcinoma 30.7 SYP DES CHGA ACTC1
4 papillary adenocarcinoma 30.5 TP53 NKX2-1 KRAS
5 embryonal rhabdomyosarcoma 30.2 TP53 KRAS DICER1 DES ACTC1
6 adenocarcinoma 30.2 U2AF1 TP53 NKX2-1 KRAS EGFR
7 lung benign neoplasm 30.1 TP53 SYP NKX2-1 KRAS GRP EGFR
8 rhabdomyosarcoma 30.0 TP53 SYP KRAS EGFR DICER1 DES
9 pleuropulmonary blastoma 29.7 U2AF1 TP53 TARBP2 MIRLET7B MIRLET7A1 MIR708
10 small cell carcinoma 29.5 TP53 SYP NKX2-1 KRAS GRP EGFR
11 teratoma 29.4 TP53 SYP SST NKX2-1 KRAS CHGA
12 neuroblastoma 28.3 TP53 SYP SST MIRLET7B MIR125A GRP
13 small cell cancer of the lung 28.2 U2AF1 TP53 SYP SST NKX2-1 GRP
14 lung cancer susceptibility 3 27.6 U2AF1 TP53 NKX2-1 MIRLET7A1 MIR138-1 MIR125A
15 classic pulmonary blastoma 12.6
16 epithelial predominant pulmonary blastoma 12.4
17 embryoma 11.2
18 bile duct mucinous adenocarcinoma 10.6 TP53 SYP
19 lung meningioma 10.6 SYP NKX2-1
20 sarcomatoid transitional cell carcinoma 10.6 TP53 SYP
21 hyperplastic polyposis syndrome 10.5 TP53 KRAS
22 breast neuroendocrine neoplasm 10.5 SYP CHGA
23 primary hepatic neuroendocrine carcinoma 10.5 SYP CHGA
24 esophageal basaloid squamous cell carcinoma 10.5 TP53 EGFR
25 acinar cell cystadenocarcinoma 10.5 SYP CHGA
26 esophagus verrucous carcinoma 10.5 TP53 EGFR
27 vulvar eccrine porocarcinoma 10.5 SYP CHGA
28 cervical large cell neuroendocrine carcinoma 10.5 SYP CHGA
29 rare adenocarcinoma of the breast 10.5 TP53 KRAS
30 auditory system benign neoplasm 10.5 SYP CHGA
31 appendix carcinoid tumor 10.5 SYP CHGA
32 auditory system cancer 10.5 SYP CHGA
33 mixed ductal-endocrine carcinoma 10.5 SYP CHGA
34 esophageal neuroendocrine tumor 10.5 SYP CHGA
35 pancreatic serous cystadenocarcinoma 10.5 SYP CHGA
36 cauda equina neoplasm 10.5 SYP CHGA
37 anal neuroendocrine tumor 10.5 SYP SST
38 papillary thymic adenocarcinoma 10.5 SYP CHGA
39 breast papillary carcinoma 10.5 SYP CHGA
40 middle ear adenoma 10.5 SYP CHGA
41 fibroblastic rheumatism 10.5 DES ACTC1
42 ovarian fibrothecoma 10.5 DES ACTC1
43 gallbladder benign neoplasm 10.5 TP53 KRAS
44 ischemic fasciitis 10.5 DES ACTC1
45 adult teratoma 10.5 TP53 CHGA
46 glomangiomyoma 10.5 SYP ACTC1
47 gallbladder small cell carcinoma 10.5 SYP CHGA
48 gastric small cell carcinoma 10.5 SYP CHGA
49 central nervous system primitive neuroectodermal neoplasm 10.5 TP53 SYP DICER1
50 rectum neuroendocrine neoplasm 10.5 SYP SST

Graphical network of the top 20 diseases related to Pulmonary Blastoma:



Diseases related to Pulmonary Blastoma
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Symptoms & Phenotypes for Pulmonary Blastoma

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Human phenotypes related to Pulmonary Blastoma:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary infiltrates 58 31 hallmark (90%) Very frequent (99-80%) HP:0002113
2 cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0012735
3 chest pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0100749
4 hemoptysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002105
5 pleuropulmonary blastoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100528
6 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
7 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
8 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
9 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532

UMLS symptoms related to Pulmonary Blastoma:


fever, dyspnea, hemoptysis, coughing

MGI Mouse Phenotypes related to Pulmonary Blastoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ACTC1 CHGA DES DICER1 EGFR GRP
2 muscle MP:0005369 9.56 ACTC1 CHGA DES DICER1 EGFR KRAS
3 no phenotypic analysis MP:0003012 9.17 CHGA DICER1 EGFR KRAS NKX2-1 SST
Sources

Drugs & Therapeutics for Pulmonary Blastoma

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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
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 Antineoplastic Agents, Immunological Phase 2
6 Antibodies Phase 2
7 Ado-trastuzumab emtansine Phase 2
8 Antibodies, Monoclonal Phase 2
9 Tubulin Modulators Phase 2
10 Maytansine Phase 2
11 Antimitotic Agents Phase 2
12
Vincristine Approved, Investigational 57-22-7, 2068-78-2 5978
13
Doxorubicin Approved, Investigational 23214-92-8 31703
14
Dactinomycin Approved, Investigational 50-76-0 457193 2019
15
Ifosfamide Approved 3778-73-2 3690
16
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
17
Isophosphamide mustard 0
18
Liposomal doxorubicin 31703
19 Alkylating Agents
20 Anti-Infective Agents
21 Immunosuppressive Agents
22 Anti-Bacterial Agents
23 Immunologic Factors
24 Antirheumatic Agents
25 Antibiotics, Antitubercular

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 Review of the Paediatric Pleuropulmonary Blastoma French Series Unknown status NCT03044834
3 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
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

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Genetic Tests for Pulmonary Blastoma

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Anatomical Context for Pulmonary Blastoma

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MalaCards organs/tissues related to Pulmonary Blastoma:

40
Lung, Fetal Lung, Brain, Lymph Node, Bronchial Epithelium, Bone, Heart
Sources

Publications for Pulmonary Blastoma

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Articles related to Pulmonary Blastoma:

(show top 50) (show all 394)
# Title Authors PMID Year
1
Thyroid transcription factor-1 expression in pulmonary blastoma. 61 54
15140003 2004
2
Clinical, pathological and treatment factors associated with the survival of patients with pulmonary sarcomatoid carcinoma. 61
32382345 2020
3
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] 61
31610911 2019
4
Metachronous pleuropulmonary blastoma in an adult patient with endometrial cancer: a case report. 61
31281664 2019
5
Pulmonary Blastoma in an Adult Presenting With Hemoptysis and Hemothorax. 61
30365956 2019
6
Pulmonary Sarcomatoid carcinoma: a surgical diagnosis and prognostic factors. 61
31535704 2019
7
Approaches to Tumor Classification in Pulmonary Sarcomatoid Carcinoma. 61
31824199 2019
8
Classical biphasic pulmonary blastoma in a young woman: case report and review of literature. 61
31933843 2019
9
[Current Status of Diagnosis and Treatment of Pulmonary Sarcomatoid Carcinoma]. 61
30591097 2018
10
Cure of Oligometastatic Classic Biphasic Pulmonary Blastoma Using Aggressive Tri-modality Treatment: Case Series and Review of the Literature. 61
30656089 2018
11
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. 61
29295663 2018
12
Classic biphasic pulmonary blastoma: A case report and review of the literature. 61
29650276 2018
13
[Pleuro-pulmonary blastoma presenting as a chest wall deformity: a case report]. 61
29799891 2018
14
Pulmonary blastoma in a child: Report of a case with cytological findings. 61
28898554 2018
15
A patient with classic biphasic pulmonary blastoma harboring CD74-ROS1 fusion responds to crizotinib. 61
29343973 2018
16
Comprehensive review of fetal adenocarcinoma of the lung. 61
30197546 2018
17
Well-differentiated fetal adenocarcinoma of the lung: clinicopathologic features of 45 cases in China. 61
31938258 2018
18
Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use. 61
29046943 2017
19
[Surgical Case of Pulmonary Blastoma;Report of a Case]. 61
29249794 2017
20
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. 61
29390280 2017
21
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. 61
28675947 2017
22
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. 61
29299105 2017
23
A Rare Case of Sarcomatoid Carcinoma of the Lung with Spine Metastasis, Including a Literature Review. 61
28684728 2017
24
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. 61
28543815 2017
25
Sarcomatoid carcinoma of the lung: a rare histological subtype of non-small cell lung cancer with a poor prognosis even at earlier tumour stages. 61
28025310 2017
26
[Pneumoblastoma in adults: a new case report and literature review]. 61
29610636 2017
27
What do we know about pulmonary blastoma?: review of literature and clinical case report. 61
28008207 2016
28
[Fetal adenocarcinoma of the lung: a clinicopathologic analysis of six cases]. 61
27646890 2016
29
Somatic DICER1 mutations in adult-onset pulmonary blastoma. 61
27126690 2016
30
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. 61
26768884 2016
31
[Clinical analysis of 6 pulmonary blastoma patients]. 61
26796805 2016
32
[Pulmonary sarcomatoid carcinoma]. 61
26778815 2016
33
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. 61
27877056 2016
34
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. 61
26504071 2015
35
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. 61
26254381 2015
36
Selective dicer suppression in the kidney alters GSK3β/β-catenin pathways promoting a glomerulocystic disease. 61
25799508 2015
37
Infant pleuropulmonary blastoma: report of a rare case and review of literature. 61
26722577 2015
38
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. 61
27532029 2015
39
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. 61
26075125 2015
40
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. 61
25755806 2015
41
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. 61
25493248 2014
42
[Case report of pulmonary biphasic tumor with unusual follow-up]. 61
24646787 2014
43
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. 61
26842180 2014
44
[Acute affection of the thorax in children for pulmonary blastoma]. 61
25167353 2014
45
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. 61
24895392 2014
46
Pulmonary blastoma: a case report and review of the literature. 61
24885892 2014
47
Neoadjuvant chemotherapy in well-differentiated fetal adenocarcinoma: a case report. 61
24886749 2014
48
Discoid lupus and pulmonary blastoma in an elderly patient. 61
24771745 2014
49
Classic biphasic pulmonary blastoma demonstrated by 18F-FDG PET/CT. 61
23989445 2014
50
[Sarcomatoid carcinoma of the lung: retrospective study of 28 cases]. 61
24703022 2014
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Variations for Pulmonary Blastoma

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Expression for Pulmonary Blastoma

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Search GEO for disease gene expression data for Pulmonary Blastoma.
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Pathways for Pulmonary Blastoma

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Pathways related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cancer 36
11.72 TP53 MIRLET7B MIRLET7A1 MIR125B1 MIR125A KRAS
2
Alzheimers Disease 1
11.53 TP53 MIR708 MIR138-1 MIR125B1 MIR125A
3
Bladder cancer 36 1
11.36 TP53 KRAS EGFR
4
Central carbon metabolism in cancer 36
11.28 TP53 KRAS EGFR
5
Metastatic brain tumor 1
10.78 TP53 MIRLET7B MIRLET7A1
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GO Terms for Pulmonary Blastoma

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Cellular components related to Pulmonary Blastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.32 SST MIRLET7B MIRLET7A1 MIR125B1 MIR125A GRP
2 extracellular vesicle GO:1903561 9.26 MIRLET7B MIRLET7A1 MIR125B1 MIR125A
3 RISC-loading complex GO:0070578 9.16 TARBP2 DICER1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.83 TP53 NKX2-1 MIR125A KRAS ACTC1
2 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.49 TP53 EGFR
3 production of siRNA involved in RNA interference GO:0030422 9.48 TARBP2 DICER1
4 cerebral cortex cell migration GO:0021795 9.46 NKX2-1 EGFR
5 gene silencing by miRNA GO:0035195 9.43 MIRLET7B MIRLET7A1 MIR708 MIR138-1 MIR125B1 MIR125A
6 negative regulation of STAT cascade GO:1904893 9.4 MIR125B1 MIR125A
7 miRNA loading onto RISC involved in gene silencing by miRNA GO:0035280 9.37 TARBP2 DICER1
8 positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway GO:1900738 9.32 GRP CHGA
9 siRNA loading onto RISC involved in RNA interference GO:0035087 9.26 TARBP2 DICER1
10 targeting of mRNA for destruction involved in RNA interference GO:0030423 9.16 TARBP2 DICER1
11 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 8.8 MIRLET7A1 MIR125B1 MIR125A

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

# Name GO ID Score Top Affiliating Genes
1 siRNA binding GO:0035197 9.16 TARBP2 DICER1
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIRLET7B MIRLET7A1 MIR138-1 MIR125B1 MIR125A
3 pre-miRNA binding GO:0070883 8.96 TARBP2 DICER1
Sources

Sources for Pulmonary Blastoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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