MCID: BLS003
MIFTS: 40

Blastoma

Categories: Fetal diseases, Cancer diseases

Aliases & Classifications for Blastoma

MalaCards integrated aliases for Blastoma:

Name: Blastoma 12 12 72 14 69
Embryoma 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0070003 DOID:4766
NCIt 46 C8997
SNOMED-CT 64 86049000
UMLS 69 C0936282

Summaries for Blastoma

Disease Ontology : 12 A cell type cancer that has material basis in abnormally proliferating cells derives from precursor cells called blast cells.

MalaCards based summary : Blastoma, also known as embryoma, is related to pleuropulmonary blastoma and pulmonary blastoma. An important gene associated with Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways is Pathways Affected in Adenoid Cystic Carcinoma. The drugs Temozolomide and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, pituitary and thyroid, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 72 A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor... more...

Related Diseases for Blastoma

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 34.4 DICER1 TP53
2 pulmonary blastoma 33.4 DICER1 NKX2-1 SYP TP53
3 rhabdomyosarcoma 29.9 DICER1 IGF2 TP53
4 teratoma 29.7 NKX2-1 SYP TP53
5 embryonal rhabdomyosarcoma 29.6 DICER1 IGF2
6 atypical choroid plexus papilloma 29.6 DICER1 NKX2-1 SYP
7 cystic teratoma 29.5 NKX2-1 SYP TP53
8 small cell carcinoma 29.5 NKX2-1 SYP TP53
9 papilloma of choroid plexus 29.5 IGF2 SYP TP53
10 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.3
11 classic pulmonary blastoma 12.1
12 pleuropulmonary blastoma type 1 12.0
13 epithelial predominant pulmonary blastoma 11.9
14 pleuropulmonary blastoma type 2 11.8
15 pleuropulmonary blastoma type 3 11.8
16 dicer1-related disorders 11.2
17 pineal gland cancer 10.4 DICER1 SYP
18 cellular ependymoma 10.4 SYP TP53
19 atypical follicular adenoma 10.4 SYP TP53
20 cerebellum cancer 10.4 SYP TP53
21 cerebral ventricle cancer 10.3 SYP TP53
22 cerebrum cancer 10.3 SYP TP53
23 pineoblastoma 10.3 DICER1 SYP
24 supratentorial cancer 10.3 SYP TP53
25 glycogen-rich clear cell breast carcinoma 10.3 SYP TP53
26 small cell neuroendocrine carcinoma 10.3 SYP TP53
27 central nervous system organ benign neoplasm 10.3 SYP TP53
28 pleomorphic xanthoastrocytoma 10.3 SYP TP53
29 meningeal melanomatosis 10.3 SYP TP53
30 glomus tumor 10.3 SYP TP53
31 chordoid glioma 10.3 NKX2-1 TP53
32 papillary serous adenocarcinoma 10.3 NKX2-1 TP53
33 mixed cell type cancer 10.3 SYP TP53
34 cervix small cell carcinoma 10.3 SYP TP53
35 myxosarcoma 10.3 SYP TP53
36 basaloid squamous cell carcinoma 10.3 SYP TP53
37 granulosa cell tumor of the ovary 10.3 SYP TP53
38 small cell carcinoma of the bladder 10.3 NKX2-1 SYP
39 cerebellar liponeurocytoma 10.3 SYP TP53
40 pleomorphic carcinoma 10.3 NKX2-1 TP53
41 cerebral primitive neuroectodermal tumor 10.3 SYP TP53
42 optic nerve neoplasm 10.3 SYP TP53
43 malignant teratoma 10.3 NKX2-1 SYP
44 botryoid rhabdomyosarcoma 10.3 DICER1 SYP
45 pulmonary sclerosing hemangioma 10.3 NKX2-1 SYP
46 meninges sarcoma 10.3 IGF2 TP53
47 medullomyoblastoma 10.3 SYP TP53
48 carcinoid tumors, intestinal 10.3 NKX2-1 SYP
49 adult medulloblastoma 10.3 SYP TP53
50 extraskeletal ewing sarcoma 10.3 NKX2-1 SYP

Graphical network of the top 20 diseases related to Blastoma:



Diseases related to Blastoma

Symptoms & Phenotypes for Blastoma

MGI Mouse Phenotypes related to Blastoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 DICER1 IGF2 LARGE1 NKX2-1 SYP TP53
2 nervous system MP:0003631 9.73 DICER1 IGF2 LARGE1 NKX2-1 SYP TP53
3 no phenotypic analysis MP:0003012 9.55 IGF2 KMT2C NKX2-1 TP53 DICER1
4 reproductive system MP:0005389 9.43 IGF2 KMT2C LARGE1 NKX2-1 TP53 DICER1
5 vision/eye MP:0005391 9.02 IGF2 KMT2C LARGE1 TP53 DICER1

Drugs & Therapeutics for Blastoma

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
2
Adenosine Approved, Investigational Phase 2 58-61-7 60961
3
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
4 Alkylating Agents Phase 2
5 Antimitotic Agents Phase 2
6 Antineoplastic Agents, Phytogenic Phase 2
7 Ado-trastuzumab emtansine Phase 2
8 Antibodies Phase 2
9 Antibodies, Monoclonal Phase 2
10 Immunoglobulins Phase 2
11 Maytansine Phase 2
12
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
13
Dactinomycin Approved, Investigational 50-76-0 457193 2019
14
Doxorubicin Approved, Investigational 23214-92-8 31703
15
Ifosfamide Approved 3778-73-2 3690
16
Mechlorethamine Approved, Investigational 51-75-2 4033
17
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
18
Doxil Approved June 1999 31703
19 Anti-Bacterial Agents
20 Antibiotics, Antitubercular
21 Anti-Infective Agents
22 Antirheumatic Agents
23 Immunosuppressive Agents
24 Isophosphamide mustard 0
25 Nucleic Acid Synthesis Inhibitors
26 Topoisomerase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hyperbaric Hyperoxygenation With Radiotherapy and Temozolomide in Adults With Newly Diagnosed Glioblastoma Unknown status NCT00936052 Phase 2
2 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
3 Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer Completed NCT01353300
4 Review of the Paediatric Pleuropulmonary Blastoma French Series Recruiting NCT03044834
5 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Recruiting NCT01464606 Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
6 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
7 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
8 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
9 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
10 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769

Search NIH Clinical Center for Blastoma

Genetic Tests for Blastoma

Anatomical Context for Blastoma

MalaCards organs/tissues related to Blastoma:

38
Lung, Pituitary, Thyroid, Fetal Lung, Kidney, Brain, Ovary

Publications for Blastoma

Articles related to Blastoma:

(show top 50) (show all 412)
# Title Authors Year
1
A patient with classic biphasic pulmonary blastoma harboring<i>CD74-ROS1</i>fusion responds to crizotinib. ( 29343973 )
2018
2
Pulmonary blastoma in a child: Report of a case with cytological findings. ( 28898554 )
2017
3
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature. ( 27718333 )
2017
4
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. ( 28675947 )
2017
5
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. ( 29295663 )
2017
6
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. ( 29299105 )
2017
7
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. ( 28688118 )
2017
8
A Case Report of Pleuropulmonary Blastoma Presenting as Tension Pneumothorax. ( 28469342 )
2017
9
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
10
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. ( 28624956 )
2017
11
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. ( 28543815 )
2017
12
Synthesis of silica-PAMAM dendrimer nanoparticles as promising carriers in Neuro blastoma cells. ( 27939389 )
2017
13
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. ( 29390280 )
2017
14
The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28103635 )
2017
15
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. ( 28097783 )
2017
16
Pleuropulmonary Blastoma: A Single-center Case Series of 6 Patients. ( 28991133 )
2017
17
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
18
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
19
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
20
Giant pleuropulmonary blastoma. ( 27341849 )
2016
21
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
22
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
23
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2016
24
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
25
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2016
26
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
27
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
28
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
29
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
30
Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma. ( 26907828 )
2016
31
Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma. ( 25978641 )
2015
32
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
33
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
34
Neoadjuvant Chemoradiotherapy Treatment for a Classic Biphasic Pulmonary Blastoma with High PD-L1 Expression. ( 26254381 )
2015
35
A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab. ( 26075125 )
2015
36
Infant pleuropulmonary blastoma: report of a rare case and review of literature. ( 26722577 )
2015
37
Classic biphasic pulmonary blastoma with brain and axillary metastases: a case report with molecular analysis and review of literature. ( 25755806 )
2015
38
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
39
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
40
Unresectable Middle Mediastinal Biphasic Pulmonary Blastoma. ( 26504071 )
2015
41
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2015
42
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. ( 26454454 )
2015
43
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
44
Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma. ( 25500911 )
2015
45
Pleuropulmonary blastoma in adolescence: A rare tumor beyond first decade of life. ( 25983419 )
2015
46
Pleuropulmonary blastoma: a case report. ( 25560611 )
2015
47
Radiographic Screening of Infants and Young Children With Genetic Predisposition for Rare Malignancies: DICER1 Mutations and Pleuropulmonary Blastoma. ( 25794098 )
2015
48
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2015
49
Endoscopic Transsphenoidal Approach for Resection of Malignant Pituitary Blastoma in an 18-Month-Old Infant: A Technical Note. ( 24978649 )
2014
50
Treatment and prognostic factors in pleuropulmonary blastoma: An EXPeRT report. ( 24041875 )
2014

Variations for Blastoma

Expression for Blastoma

Search GEO for disease gene expression data for Blastoma.

Pathways for Blastoma

Pathways related to Blastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 KMT2C TP53

GO Terms for Blastoma

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.92 DICER1 IGF2 NKX2-1 TP53

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

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 8.62 SYP TP53

Sources for Blastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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