MCID: PLM032
MIFTS: 46

Pulmonary Blastoma

Categories: Cancer diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Blastoma

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:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4765
MeSH 43 D018202
NCIt 49 C3732
SNOMED-CT 67 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

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 carcinosarcoma and rare tumor, 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 Bladder cancer. The drugs Adenosine and Trastuzumab have been mentioned in the context of this disorder. Affiliated tissues include lung, thyroid and breast, 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...

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 360)
# Related Disease Score Top Affiliating Genes
1 carcinosarcoma 31.1 TP53 KRAS EGFR DES
2 rare tumor 31.0 SST DES
3 spindle cell carcinoma 31.0 SYP DES CHGA
4 embryonal rhabdomyosarcoma 30.7 TP53 DICER1 DES
5 papillary adenocarcinoma 30.5 TP53 NKX2-1 KRAS
6 rhabdomyosarcoma 30.4 TP53 SYP KRAS EGFR DICER1 DES
7 lung benign neoplasm 30.1 TP53 SYP NKX2-1 KRAS GRP EGFR
8 teratoma 29.7 TP53 SYP SST NKX2-1 KRAS CHGA
9 pleuropulmonary blastoma 29.7 TP53 MIRLET7B MIRLET7A1 MIR708 MIR483 MIR214
10 small cell carcinoma 29.5 TP53 SYP NKX2-1 KRAS GRP EGFR
11 small cell cancer of the lung 29.1 TP53 SYP SST NKX2-1 GRP EGFR
12 neuroblastoma 28.2 TP53 SYP SST MIRLET7B MIR125A GRP
13 lung cancer susceptibility 3 27.9 TP53 NKX2-1 MIRLET7A1 MIR483 MIR138-1 MIR125A
14 classic pulmonary blastoma 12.6
15 epithelial predominant pulmonary blastoma 12.4
16 embryoma 11.1
17 glomangiosarcoma 10.6 TP53 SYP
18 bile duct mucinous adenocarcinoma 10.6 TP53 SYP
19 lung meningioma 10.6 SYP NKX2-1
20 hyperplastic polyposis syndrome 10.6 TP53 KRAS
21 sarcomatoid transitional cell carcinoma 10.6 TP53 SYP
22 ureter small cell carcinoma 10.6 SYP CHGA
23 ovarian cystic teratoma 10.5 SYP NKX2-1
24 primary hepatic neuroendocrine carcinoma 10.5 SYP CHGA
25 ovarian large-cell neuroendocrine carcinoma 10.5 SYP CHGA
26 pancreas lymphoma 10.5 SYP CHGA
27 acinar cell cystadenocarcinoma 10.5 SYP CHGA
28 esophageal basaloid squamous cell carcinoma 10.5 TP53 EGFR
29 vulvar eccrine porocarcinoma 10.5 SYP CHGA
30 appendix carcinoid tumor 10.5 SYP CHGA
31 esophagus verrucous carcinoma 10.5 TP53 EGFR
32 ewing sarcoma of bone 10.5 DES CHGA
33 anal neuroendocrine tumor 10.5 SYP SST
34 auditory system cancer 10.5 SYP CHGA
35 mixed ductal-endocrine carcinoma 10.5 SYP CHGA
36 rare adenocarcinoma of the breast 10.5 TP53 KRAS
37 thymus small cell carcinoma 10.5 SYP CHGA
38 papillary thymic adenocarcinoma 10.5 SYP CHGA
39 breast papillary carcinoma 10.5 SYP CHGA
40 posterior pituitary gland neoplasm 10.5 SYP NKX2-1
41 cauda equina neoplasm 10.5 SYP CHGA
42 rectum neuroendocrine neoplasm 10.5 SYP SST
43 vaginal tubulovillous adenoma 10.5 SYP CHGA
44 vaginal adenoma 10.5 SYP CHGA
45 middle ear adenoma 10.5 SYP CHGA
46 nodular ganglioneuroblastoma 10.5 SYP CHGA
47 esophageal adenoid cystic carcinoma 10.5 SYP CHGA
48 central nervous system primitive neuroectodermal neoplasm 10.5 TP53 SYP DICER1
49 acneiform dermatitis 10.5 KRAS EGFR
50 adult teratoma 10.5 TP53 CHGA

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:

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 no phenotypic analysis MP:0003012 9.17 CHGA DICER1 EGFR KRAS NKX2-1 SST

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
Adenosine Approved, Investigational Phase 2 58-61-7 60961
2
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
3 Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
4 Antibodies, Monoclonal Phase 2
5 Antineoplastic Agents, Immunological Phase 2
6 Antimitotic Agents Phase 2
7 Maytansine Phase 2
8 Ado-trastuzumab emtansine Phase 2
9 Antibodies Phase 2
10 Immunoglobulins Phase 2
11
Doxorubicin Approved, Investigational 23214-92-8 31703
12
Dactinomycin Approved, Investigational 50-76-0 2019 457193
13
Ifosfamide Approved 3778-73-2 3690
14
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
15
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
16
Mechlorethamine Approved, Investigational 51-75-2 4033
17
Isophosphamide mustard 0
18
Liposomal doxorubicin 31703
19 Alkylating Agents
20 Anti-Infective Agents
21 Antibiotics, Antitubercular
22 Topoisomerase Inhibitors
23 Antirheumatic Agents
24 Anti-Bacterial Agents
25 Immunosuppressive Agents
26 Immunologic Factors

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:

40
Lung, Thyroid, Breast, Ovary, Thymus, Colon, Bone

Publications for Pulmonary Blastoma

Articles related to Pulmonary Blastoma:

(show top 50) (show all 393)
# Title Authors PMID Year
1
Thyroid transcription factor-1 expression in pulmonary blastoma. 54 61
15140003 2004
2
[DICER1 constitutional pathogenic variant syndrome: Where are we in 2019?] 61
31610911 2019
3
Metachronous pleuropulmonary blastoma in an adult patient with endometrial cancer: a case report. 61
31281664 2019
4
Pulmonary Blastoma in an Adult Presenting With Hemoptysis and Hemothorax. 61
30365956 2019
5
Approaches to Tumor Classification in Pulmonary Sarcomatoid Carcinoma. 61
31824199 2019
6
Pulmonary Sarcomatoid carcinoma: a surgical diagnosis and prognostic factors. 61
31535704 2019
7
Classical biphasic pulmonary blastoma in a young woman: case report and review of literature. 61
31933843 2019
8
[Current Status of Diagnosis and Treatment of Pulmonary Sarcomatoid Carcinoma]. 61
30591097 2018
9
Cure of Oligometastatic Classic Biphasic Pulmonary Blastoma Using Aggressive Tri-modality Treatment: Case Series and Review of the Literature. 61
30656089 2018
10
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. 61
29295663 2018
11
Classic biphasic pulmonary blastoma: A case report and review of the literature. 61
29650276 2018
12
[Pleuro-pulmonary blastoma presenting as a chest wall deformity: a case report]. 61
29799891 2018
13
Pulmonary blastoma in a child: Report of a case with cytological findings. 61
28898554 2018
14
A patient with classic biphasic pulmonary blastoma harboring CD74-ROS1 fusion responds to crizotinib. 61
29343973 2018
15
Comprehensive review of fetal adenocarcinoma of the lung. 61
30197546 2018
16
Well-differentiated fetal adenocarcinoma of the lung: clinicopathologic features of 45 cases in China. 61
31938258 2018
17
Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use. 61
29046943 2017
18
[Surgical Case of Pulmonary Blastoma;Report of a Case]. 61
29249794 2017
19
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. 61
28675947 2017
20
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. 61
29390280 2017
21
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. 61
29299105 2017
22
A Rare Case of Sarcomatoid Carcinoma of the Lung with Spine Metastasis, Including a Literature Review. 61
28684728 2017
23
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. 61
28543815 2017
24
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
25
[Pneumoblastoma in adults: a new case report and literature review]. 61
29610636 2017
26
What do we know about pulmonary blastoma?: review of literature and clinical case report. 61
28008207 2016
27
[Fetal adenocarcinoma of the lung: a clinicopathologic analysis of six cases]. 61
27646890 2016
28
Somatic DICER1 mutations in adult-onset pulmonary blastoma. 61
27126690 2016
29
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. 61
26768884 2016
30
[Clinical analysis of 6 pulmonary blastoma patients]. 61
26796805 2016
31
[Pulmonary sarcomatoid carcinoma]. 61
26778815 2016
32
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. 61
27877056 2016
33
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. 61
26504071 2015
34
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. 61
26254381 2015
35
Selective dicer suppression in the kidney alters GSK3β/β-catenin pathways promoting a glomerulocystic disease. 61
25799508 2015
36
Infant pleuropulmonary blastoma: report of a rare case and review of literature. 61
26722577 2015
37
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. 61
27532029 2015
38
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. 61
26075125 2015
39
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. 61
25755806 2015
40
Adult pulmonary blastoma: Report of an unusual malignant lung tumor. 61
25493248 2014
41
[Case report of pulmonary biphasic tumor with unusual follow-up]. 61
24646787 2014
42
A case of biphasic pulmonary blastoma showing good response to preoperative chemotherapy. 61
26842180 2014
43
[Acute affection of the thorax in children for pulmonary blastoma]. 61
25167353 2014
44
Surgery and radiation therapy for brain metastases from classic biphasic pulmonary blastoma. 61
24895392 2014
45
Pulmonary blastoma: a case report and review of the literature. 61
24885892 2014
46
Neoadjuvant chemotherapy in well-differentiated fetal adenocarcinoma: a case report. 61
24886749 2014
47
Discoid lupus and pulmonary blastoma in an elderly patient. 61
24771745 2014
48
Classic biphasic pulmonary blastoma demonstrated by 18F-FDG PET/CT. 61
23989445 2014
49
[Sarcomatoid carcinoma of the lung: retrospective study of 28 cases]. 61
24703022 2014
50
Diagnosis and multi-modality treatment of adult pulmonary plastoma: Analysis of 18 cases and review of literature. 61
24461533 2014

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:

# Super pathways Score Top Affiliating Genes
1 11.81 TP53 MIRLET7B MIRLET7A1 MIR483 MIR214 MIR125B1
2 11.3 TP53 KRAS EGFR
3 11.17 TP53 KRAS EGFR
4 10.58 TP53 MIRLET7B MIRLET7A1

GO Terms for Pulmonary Blastoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 SST MIRLET7B MIRLET7A1 MIR125B1 MIR125A GRP

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.55 TP53 MIR214 MIR138-1 MIR125A DICER1
2 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 9.43 MIRLET7A1 MIR125B1
3 cellular response to reactive oxygen species GO:0034614 9.43 TP53 MIRLET7B EGFR
4 cerebral cortex cell migration GO:0021795 9.4 NKX2-1 EGFR
5 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.37 TP53 EGFR
6 positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway GO:1900738 9.32 GRP CHGA
7 miRNA mediated inhibition of translation GO:0035278 9.26 MIRLET7A1 MIR483 MIR138-1 MIR125B1
8 gene silencing by miRNA GO:0035195 9.17 MIRLET7B MIRLET7A1 MIR483 MIR214 MIR138-1 MIR125B1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIRLET7B MIRLET7A1 MIR483 MIR214 MIR138-1 MIR125B1

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 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
Content
Loading form....