MCID: EMB002
MIFTS: 47

Embryoma

Categories: Cancer diseases, Fetal diseases

Aliases & Classifications for Embryoma

MalaCards integrated aliases for Embryoma:

Name: Embryoma 12 15
Blastoma 12 77 17 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4766
NCIt 51 C8997
SNOMED-CT 69 86049000
UMLS 74 C0936282

Summaries for Embryoma

Disease Ontology : 12 A carcinosarcoma and embryonal cancer that is located in embryonic tissue and results in a mass of rapidly growing cells.

MalaCards based summary : Embryoma, also known as blastoma, is related to mixed germ cell tumor and embryonal sarcoma. An important gene associated with Embryoma is SALL4 (Spalt Like Transcription Factor 4), and among its related pathways/superpathways are Developmental Biology and Wnt / Hedgehog / Notch. The drugs Temozolomide and Trastuzumab have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and testis, and related phenotypes are cellular and endocrine/exocrine gland

Wikipedia : 77 A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor... more...

Related Diseases for Embryoma

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

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 mixed germ cell tumor 30.1 AFP KIT
2 embryonal sarcoma 29.9 GPC3 KIT
3 endodermal sinus tumor 29.9 AFP GPC3 SALL4
4 teratoma 29.4 AFP CDX2 KIT POU5F1
5 pleuropulmonary blastoma 12.8
6 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.5
7 classic pulmonary blastoma 12.3
8 pleuropulmonary blastoma type 1 12.2
9 epithelial predominant pulmonary blastoma 12.1
10 pleuropulmonary blastoma type 2 12.0
11 pleuropulmonary blastoma type 3 12.0
12 dicer1-related disorders 11.7
13 wilms tumor 5 11.5
14 wilms tumor 6 10.5
15 cystic nephroma 10.4
16 pneumothorax 10.3
17 carcinosarcoma 10.3
18 cystic adenomatoid malformation of lung 10.3
19 ovarian germ cell cancer 10.2 AFP SALL4
20 horseshoe kidney 10.2 CDX2 HNF1B
21 gastric signet ring cell adenocarcinoma 10.2 CDX2 GATA3
22 predominantly cortical thymoma 10.2 KRT14 KRT19
23 testicular malignant germ cell cancer 10.2 AFP GPC3
24 medulloepithelioma 10.2
25 anus adenocarcinoma 10.2 CDX2 KRT19
26 hepatic adenomas, familial 10.2 AFP GPC3
27 cervical clear cell adenocarcinoma 10.2 KRT14 KRT19
28 odontoma 10.2 KRT14 KRT19
29 seminal vesicle tumor 10.2 AFP GPC3
30 hepatoid adenocarcinoma 10.2 AFP CDX2
31 spermatocytoma 10.2 KIT SALL4
32 limbal stem cell deficiency 10.2 KRT14 KRT19
33 anal canal adenocarcinoma 10.2 CDX2 KRT19
34 pulmonary blastoma 10.2
35 lipoadenoma 10.2 KRT14 KRT19
36 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
37 tumor predisposition syndrome 10.2
38 brain germinoma 10.2 AFP POU5F1
39 biliary papillomatosis 10.2 CDX2 KRT19
40 helsmoortel-van der aa syndrome 10.2 KIT SALL4
41 cystitis cystica 10.2 CDX2 GATA3
42 pregnancy adenoma 10.2 KRT14 KRT19
43 extragonadal germ cell cancer 10.2 AFP POU5F1
44 superior mesenteric artery syndrome 10.2 CDX2 KRT19
45 central nervous system germ cell tumor 10.1 AFP POU5F1
46 embryonal testis carcinoma 10.1 AFP POU5F1
47 intraneural perineurioma 10.1 KRT14 KRT19
48 intrahepatic bile duct adenoma 10.1 AFP KRT19
49 mature teratoma 10.1 AFP POU5F1
50 cribriform carcinoma 10.1 GATA3 KIT

Graphical network of the top 20 diseases related to Embryoma:



Diseases related to Embryoma

Symptoms & Phenotypes for Embryoma

MGI Mouse Phenotypes related to Embryoma:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 CDX2 GATA3 GPC3 KIT KRT14 KRT19
2 endocrine/exocrine gland MP:0005379 10.15 AFP CDX2 GATA3 HNF1B KIT KRT14
3 digestive/alimentary MP:0005381 10.13 CDX2 GATA3 GPC3 KIT KRT14 KRT19
4 embryo MP:0005380 10.11 CDX2 GATA3 GPC3 HNF1B KIT KRT19
5 growth/size/body region MP:0005378 10.08 CDX2 GATA3 GPC3 HNF1B KIT KRT14
6 mortality/aging MP:0010768 10.07 AFP CDX2 GATA3 GPC3 HNF1B KIT
7 homeostasis/metabolism MP:0005376 10.06 AFP CDX2 GATA3 GPC3 HNF1B KIT
8 immune system MP:0005387 9.98 GATA3 GPC3 HNF1B KIT KRT14 SALL4
9 craniofacial MP:0005382 9.93 GATA3 GPC3 KIT KRT14 SALL4
10 integument MP:0010771 9.88 GATA3 GPC3 KIT KRT14 KRT19 POU5F1
11 neoplasm MP:0002006 9.72 AFP CDX2 KIT KRT14 KRT19
12 reproductive system MP:0005389 9.61 AFP CDX2 GATA3 GPC3 KIT KRT14
13 pigmentation MP:0001186 9.56 GATA3 GPC3 KIT KRT14
14 renal/urinary system MP:0005367 9.55 GATA3 GPC3 HNF1B KIT SALL4
15 skeleton MP:0005390 9.1 CDX2 GATA3 GPC3 KIT KRT19 SALL4

Drugs & Therapeutics for Embryoma

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
2
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
3
Adenosine Approved, Investigational Phase 2 58-61-7 60961
4 Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
5 Alkylating Agents Phase 2,Not Applicable
6 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
7 Immunoglobulins Phase 2
8 Ado-trastuzumab emtansine Phase 2
9 Maytansine Phase 2
10 Antineoplastic Agents, Phytogenic Phase 2,Not Applicable
11 Antibodies, Monoclonal Phase 2
12 Antibodies Phase 2
13 Antimitotic Agents Phase 2,Not Applicable
14 Antineoplastic Agents, Immunological Phase 2
15
Dactinomycin Approved, Investigational ,Not Applicable 50-76-0 457193 2019
16
Vincristine Approved, Investigational ,Not Applicable 2068-78-2, 57-22-7 5978
17
Ifosfamide Approved ,Not Applicable 3778-73-2 3690
18
Doxorubicin Approved, Investigational ,Not Applicable 23214-92-8 31703
19
Cyclophosphamide Approved, Investigational ,Not Applicable 50-18-0, 6055-19-2 2907
20
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
21
Doxil Approved June 1999 ,Not Applicable 31703
22
Isophosphamide mustard ,Not Applicable 0
23 Nucleic Acid Synthesis Inhibitors Not Applicable
24 Anti-Infective Agents Not Applicable
25 Anti-Bacterial Agents Not Applicable
26 Immunosuppressive Agents Not Applicable
27 Immunologic Factors Not Applicable
28 Topoisomerase Inhibitors Not Applicable
29 Antibiotics, Antitubercular Not Applicable
30 Antirheumatic Agents Not Applicable

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 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
6 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
7 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
8 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769
9 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Active, not recruiting NCT01464606 Not Applicable Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
10 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903

Search NIH Clinical Center for Embryoma

Genetic Tests for Embryoma

Anatomical Context for Embryoma

MalaCards organs/tissues related to Embryoma:

42
Kidney, Thyroid, Testis, Ovary, Fetal Lung, Pituitary, Brain

The Foundational Model of Anatomy Ontology organs/tissues related to Embryoma:

20
Embryonic Tissue

Publications for Embryoma

Articles related to Embryoma:

(show top 50) (show all 475)
# Title Authors Year
1
Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings. ( 30665929 )
2019
2
Successful treatment of metastatic cerebral recurrence of pleuropulmonary blastoma. ( 30677214 )
2019
3
Clinical analysis of early death in children with pleuropulmonary blastoma in a single center in China. ( 31087639 )
2019
4
Pulmonary Blastoma in an Adult Presenting With Hemoptysis and Hemothorax. ( 30365956 )
2019
5
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? ( 29943907 )
2018
6
Review of Early Postoperative Metrics for Children Undergoing Resection of Congenital Pulmonary Airway Malformations and Report of Pleuropulmonary Blastoma at a Single Institution. ( 29920635 )
2018
7
Sudden death in a female child doe to undiagnosed pleuropulmonary blastoma - An autopsy case and review of literature. ( 29940434 )
2018
8
Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review. ( 30097050 )
2018
9
Pleuropulmonary Blastoma Developing in a Case of Misinterpreted Congenital Pulmonary Airway Malformation: a Case Report. ( 30358469 )
2018
10
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma. ( 30585947 )
2018
11
Pulmonary blastoma in a child: Report of a case with cytological findings. ( 28898554 )
2018
12
ROS1 Rearrangement in a Case of Classic Biphasic Pulmonary Blastoma. ( 29295663 )
2018
13
A patient with classic biphasic pulmonary blastoma harboring CD74-ROS1 fusion responds to crizotinib. ( 29343973 )
2018
14
Classic biphasic pulmonary blastoma: A case report and review of the literature. ( 29650276 )
2018
15
Cure of Oligometastatic Classic Biphasic Pulmonary Blastoma Using Aggressive Tri-modality Treatment: Case Series and Review of the Literature. ( 30656089 )
2018
16
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
17
An unusual primary malignant tumor of the stomach: fetal gutlike gastric adenocarcinoma with "blastoma"-like component. ( 28315695 )
2017
18
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2017
19
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2017
20
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2017
21
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature. ( 27718333 )
2017
22
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. ( 28097783 )
2017
23
The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28103635 )
2017
24
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
25
A Case Report of Pleuropulmonary Blastoma Presenting as Tension Pneumothorax. ( 28469342 )
2017
26
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. ( 28624956 )
2017
27
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. ( 28688118 )
2017
28
Pleuropulmonary Blastoma: A Single-center Case Series of 6 Patients. ( 28991133 )
2017
29
Unusual morphology of a pulmonary blastoma having an epithelial component with focally significant nuclear pleomorphism. ( 28543815 )
2017
30
Pulmonary Blastoma in Children: Report of a Rare Case and Review of the Literature. ( 28675947 )
2017
31
The Radiologic and Pathologic Diagnosis of Biphasic Pulmonary Blastoma. ( 29299105 )
2017
32
Clinical and pathology analysis of 1 case of adult pleural pulmonary blastoma: A case report. ( 29390280 )
2017
33
Synthesis of silica-PAMAM dendrimer nanoparticles as promising carriers in Neuro blastoma cells. ( 27939389 )
2017
34
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
35
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
36
Giant pleuropulmonary blastoma. ( 27341849 )
2016
37
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
38
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2016
39
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. ( 26454454 )
2016
40
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2016
41
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
42
Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma. ( 26907828 )
2016
43
Biphasic Pulmonary Blastoma Associated with Cerebral Metastasis. ( 26768884 )
2016
44
Somatic DICER1 mutations in adult-onset pulmonary blastoma. ( 27126690 )
2016
45
A retrospective analysis of the clinicopathological and molecular characteristics of pulmonary blastoma. ( 27877056 )
2016
46
What do we know about pulmonary blastoma?: review of literature and clinical case report. ( 28008207 )
2016
47
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
48
Pulmonary blastoma: a case report and brief review of the literature of tumor-induced hypoglycemia. ( 27532029 )
2015
49
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
50
Diagnosis and treatment of pleuropulmonary blastoma-single center experience. ( 24692196 )
2015

Variations for Embryoma

Expression for Embryoma

Search GEO for disease gene expression data for Embryoma.

Pathways for Embryoma

GO Terms for Embryoma

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 GATA3 HNF1B KIT POU5F1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.72 CDX2 GATA3 HNF1B POU5F1 SALL4
3 anatomical structure morphogenesis GO:0009653 9.61 GATA3 GPC3 POU5F1
4 kidney development GO:0001822 9.58 GATA3 GPC3 HNF1B
5 T cell differentiation GO:0030217 9.55 GATA3 KIT
6 ventricular septum development GO:0003281 9.54 GATA3 SALL4
7 blastocyst development GO:0001824 9.51 CDX2 POU5F1
8 embryonic hemopoiesis GO:0035162 9.48 GATA3 KIT
9 animal organ morphogenesis GO:0009887 9.46 CDX2 GPC3
10 epithelial cell proliferation GO:0050673 9.37 HNF1B KIT
11 endodermal cell fate specification GO:0001714 9.26 HNF1B POU5F1
12 tissue development GO:0009888 9.22 SALL4
13 mast cell differentiation GO:0060374 9.16 GATA3 KIT
14 nephric duct formation GO:0072179 8.96 GATA3 HNF1B
15 somatic stem cell population maintenance GO:0035019 8.92 CDX2 KIT POU5F1 SALL4

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.46 CDX2 GATA3 HNF1B POU5F1
2 cytokine binding GO:0019955 9.26 KIT POU5F1
3 proximal promoter sequence-specific DNA binding GO:0000987 8.96 GATA3 HNF1B
4 enhancer sequence-specific DNA binding GO:0001158 8.62 GATA3 POU5F1

Sources for Embryoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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