MCID: EMB002
MIFTS: 37

Embryoma

Categories: Cancer diseases, Fetal diseases

Aliases & Classifications for Embryoma

MalaCards integrated aliases for Embryoma:

Name: Embryoma 12 15
Blastoma 12 74 17 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4766
NCIt 50 C8997
SNOMED-CT 67 86049000
UMLS 71 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 pleuropulmonary blastoma and dicer1 tumor predisposition. An important gene associated with Embryoma is NAT10 (N-Acetyltransferase 10). The drugs Temozolomide and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include embryonic tissue, fetal lung and thyroid, and related phenotypes are shRNA abundance <= 50% and cellular

Wikipedia : 74 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 188)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 11.8
2 dicer1 tumor predisposition 11.5
3 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 11.5
4 classic pulmonary blastoma 11.3
5 epithelial predominant pulmonary blastoma 11.1
6 wilms tumor 1 11.0
7 pleuropulmonary blastoma type 3 10.9
8 pleuropulmonary blastoma type 1 10.9
9 pleuropulmonary blastoma type 2 10.9
10 rhabdomyosarcoma 10.4
11 nephroma 10.4
12 rare tumor 10.4
13 pneumothorax 10.3
14 carcinosarcoma 10.3
15 embryonal rhabdomyosarcoma 10.3
16 cystic adenomatoid malformation of lung 10.3
17 cystic disease of lung 10.2
18 well-differentiated fetal adenocarcinoma of the lung 10.2
19 lung benign neoplasm 10.2
20 sertoli-leydig cell tumor 10.1
21 medulloepithelioma 10.1
22 tumor predisposition syndrome 10.1
23 sarcomatoid carcinoma 10.1
24 neuroblastoma 10.1
25 embryonal carcinoma 10.1
26 pneumothorax, primary spontaneous 10.1
27 respiratory failure 10.1
28 malignant mesenchymoma 10.1
29 lung disease 10.1
30 chromosomal triplication 10.1
31 pleural empyema 10.0
32 hepatoblastoma 10.0
33 thyroid carcinoma 10.0
34 endodermal sinus tumor 10.0
35 teratoma 10.0
36 pulmonary blastoma 10.0
37 testicular yolk sac tumor 10.0
38 germ cells tumors 10.0
39 mixed germ cell tumor 10.0
40 emphysema, congenital lobar 10.0
41 lung cancer susceptibility 3 10.0
42 multinodular goiter 10.0
43 small cell carcinoma 10.0
44 immunoglobulin alpha deficiency 10.0
45 goiter 10.0
46 squamous cell papilloma 10.0
47 hemangioma 10.0
48 papilloma 10.0
49 leydig cell tumor 10.0
50 adenocarcinoma 10.0

Graphical network of the top 20 diseases related to Embryoma:



Diseases related to Embryoma

Symptoms & Phenotypes for Embryoma

GenomeRNAi Phenotypes related to Embryoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.02 ELAC1 FOXL1 NAT10 NFIX SALL4

MGI Mouse Phenotypes related to Embryoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 ALOX15B CTF1 FOXJ1 FOXL1 GATA5 SALL4
2 digestive/alimentary MP:0005381 9.02 FOXJ1 FOXL1 GATA5 NFIX SALL4

Drugs & Therapeutics for Embryoma

Drugs for Embryoma (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 Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
5 Antimitotic Agents Phase 2
6 Tubulin Modulators Phase 2
7 Antineoplastic Agents, Immunological Phase 2
8 Immunoglobulins Phase 2
9 Maytansine Phase 2
10 Antibodies Phase 2
11 Antibodies, Monoclonal Phase 2
12 Ado-trastuzumab emtansine Phase 2
13
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
14
Doxorubicin Approved, Investigational 23214-92-8 31703
15
Dactinomycin Approved, Investigational 50-76-0 2019 457193
16
Ifosfamide Approved 3778-73-2 3690
17
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
18 Immunosuppressive Agents
19 Antibiotics, Antitubercular
20 Immunologic Factors
21 Anti-Infective Agents
22 Anti-Bacterial Agents
23
Isophosphamide mustard 100427
24 Antirheumatic Agents
25
Liposomal doxorubicin 31703
26 Alkylating Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pilot Trial of Hyperbaric Hyperoxygenation in Conjunction With Radiotherapy and Temozolomide In Adults With Newly Diagnosed Glioblastomas Unknown status NCT00936052 Phase 2
2 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
3 Review of the Paediatric Pleuropulmonary Blastoma French Series Completed NCT03044834
4 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
5 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
6 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
7 Follow up of Congenital Lung Anomalies (CLA) With Antenatal Diagnosis - a Swiss Multicentric Database Recruiting NCT03044769
8 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
9 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Protocol Active, not recruiting NCT01464606 Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin

Search NIH Clinical Center for Embryoma

Genetic Tests for Embryoma

Anatomical Context for Embryoma

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

19
Embryonic Tissue

MalaCards organs/tissues related to Embryoma:

40
Fetal Lung, Thyroid, Pituitary, Testis, Ovary, Bone Marrow, Lung

Publications for Embryoma

Articles related to Embryoma:

(show top 50) (show all 1042)
# Title Authors PMID Year
1
Rare Infant Case of Pulmonary Aspergilloma Highlighting Common Challenges With Voriconazole Dosing. 61
33565811 2021
2
A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye? 61
33571543 2021
3
Pleuropulmonary Blastoma with Hotspot Mutations in RNase IIIb Domain of DICER 1: Clinicopathologic Study of 10 Cases in a Single-Institute Experience. 61
33567437 2021
4
Epidemiology and outcomes of primary pediatric lung malignancies: Updates from the SEER database. 61
33549297 2021
5
Genomics and Epigenomics of Pituitary Tumors: What Do Pathologists Need to Know? 61
33433883 2021
6
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. 61
32692439 2021
7
Hematologic indices in individuals with pathogenic germline DICER1 variants. 61
33570641 2021
8
An autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation. 61
33112496 2021
9
Clinical Outcomes and Complications of Pituitary Blastoma. 61
33236116 2021
10
Thoracoscopic Management of Pediatric Patients with Congenital Lung Malformations: Results of a European Multicenter Survey. 61
33428520 2021
11
Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions. 61
33252753 2020
12
Type Ir pleuropulmonary blastoma in a 3-year-old child with asthma. 61
33369237 2020
13
ADVL1522: A phase 2 study of lorvotuzumab mertansine (IMGN901) in children with relapsed or refractory wilms tumor, rhabdomyosarcoma, neuroblastoma, pleuropulmonary blastoma, malignant peripheral nerve sheath tumor, or synovial sarcoma-A Children's Oncology Group study. 61
32914879 2020
14
Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female. 61
33363744 2020
15
Malignant Mixed Germ Cell Tumors of the Ovary: An Analysis of 100 Cases Emphasizing the Frequency and Interrelationships of Their Tumor Types. 61
33284192 2020
16
Cadmium induces CCL2 production in glioblastoma cells via activation of MAPK, PI3K, and PKC pathways. 61
33075233 2020
17
Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate? 61
32507920 2020
18
Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis. 61
33158935 2020
19
Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence. 61
33258270 2020
20
Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation. 61
32415267 2020
21
Classic biphasic pulmonary blastoma: a case report and review of the literature. 61
33107372 2020
22
Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report. 61
33028416 2020
23
DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor. 61
32291395 2020
24
Incidental early diagnosis of biphasic pulmonary blastoma in a patient with history of stage IV lung adenocarcinoma. 61
32833349 2020
25
Real Time F-18 FDG PET-CT-Guided Metabolic Biopsy Targeting Differential FDG Avidity in a Pulmonary Blastoma. 61
33088357 2020
26
[Pulmonary Blastoma with the Differentiation of Adenocarcinoma and Large Cell Neuroendocrine Carcinoma in an Adult Patient;Report of a Case]. 61
32879279 2020
27
The Effect of Gross Total Resection on Patients with Pleuropulmonary Blastoma. 61
32353636 2020
28
Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation. 61
32193603 2020
29
Pleuropulmonary blastoma type I and congenital pulmonary airway malformation type 4: distinct entities or sides of the same coin? 61
32300881 2020
30
Pleuropulmonary blastoma: Difficulty in diagnosis and treatment of a case in Vietnam. 61
32985315 2020
31
Prominent entrapment of respiratory epithelium in primary and metastatic intrapulmonary non-epithelial neoplasms: a frequent morphological pattern closely mimicking adenofibroma and other biphasic pulmonary lesions. 61
32193604 2020
32
Pleuropulmonary blastoma in an adolescent. 61
32699772 2020
33
Epidemiological features and survival outcomes in patients with malignant pulmonary blastoma: a US population-based analysis. 61
32847556 2020
34
Effects of Granulocyte Macrophage Colony-Stimulating Factor Inhibition on the Skin/Nerve Cell Model In Vitro. 61
32502102 2020
35
[Clinicopathologic features and prognosis of 28 cases of pleuralpulmonary blastoma in children]. 61
32842446 2020
36
Endobronchial pulmonary blastoma - an unusual presentation of a rare lung malignancy and review of literature. 61
32729706 2020
37
Pituitary Blastoma in a 19-Year-Old Woman: A Case Report and Review of Literature. 61
32339726 2020
38
Identification of Mir-9 in Glioma Diagnosis and Prognosis. 61
32658431 2020
39
Diagnosis and treatment of pleuropulmonary blastoma in children: A single-center report of 41 cases. 61
31277979 2020
40
Pleuropulmonary Blastoma Misinterpreted as Spontaneous Pneumothorax in an Infant. 61
32305285 2020
41
Embryonal Tumors of the Central Nervous System: An Update. 61
32389264 2020
42
Exceptional response to radiotherapy in unresectable pleuropulmonary blastoma of a child. 61
33012158 2020
43
Clinical, pathological and treatment factors associated with the survival of patients with pulmonary sarcomatoid carcinoma. 61
32382345 2020
44
DICER1 Hotspot Mutations in Pleuropulmonary Blastoma: A Case Series From a Tertiary Center. 61
31603374 2020
45
Inequalities in diagnosis and registration of pediatric very rare tumors: a European study on pleuropulmonary blastoma. 61
31901982 2020
46
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma. 61
30585947 2020
47
Pleuropulmonary blastoma: a report from the TREP (Tumori Rari in Età Pediatrica) Project. 61
32270754 2020
48
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2020
49
Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. 61
31952842 2020
50
Pneumonectomy for Pediatric Tumors-a Pediatric Surgical Oncology Research Collaborative Study. 61
32209902 2020

Variations for Embryoma

Expression for Embryoma

Search GEO for disease gene expression data for Embryoma.

Pathways for Embryoma

GO Terms for Embryoma

Cellular components related to Embryoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.26 NFIX GATA5 FOXL1 FOXJ1
2 nucleus GO:0005634 9.23 SALL4 NFIX NAT10 GATA5 FOXL1 FOXJ1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 SALL4 NFIX GATA5 FOXJ1
2 regulation of transcription by RNA polymerase II GO:0006357 9.55 SALL4 NFIX GATA5 FOXL1 FOXJ1
3 tRNA processing GO:0008033 9.32 NAT10 ELAC1
4 heart development GO:0007507 9.13 SALL4 FOXL1 FOXJ1
5 regulation of epithelial cell differentiation GO:0030856 8.62 FOXJ1 ALOX15B

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.72 SALL4 NFIX GATA5 FOXL1 FOXJ1
2 DNA-binding transcription factor activity GO:0003700 9.46 NFIX GATA5 FOXL1 FOXJ1
3 sequence-specific DNA binding GO:0043565 9.43 GATA5 FOXL1 FOXJ1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 SALL4 NFIX GATA5 FOXL1 FOXJ1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 SALL4 NFIX GATA5 FOXL1 FOXJ1

Sources for Embryoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....