MCID: EMB002
MIFTS: 38

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 49 C8997
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-related pleuropulmonary blastoma cancer predisposition syndrome. An important gene associated with Embryoma is NAT10 (N-Acetyltransferase 10). The drugs Vincristine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include embryonic tissue, lung and kidney, and related phenotypes are cellular and digestive/alimentary

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 204)
# Related Disease Score Top Affiliating Genes
1 pleuropulmonary blastoma 12.9
2 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.7
3 classic pulmonary blastoma 12.4
4 dicer1 tumor predisposition 12.3
5 pleuropulmonary blastoma type 3 12.3
6 pleuropulmonary blastoma type 1 12.3
7 epithelial predominant pulmonary blastoma 12.2
8 pleuropulmonary blastoma type 2 12.2
9 wilms tumor 5 11.6
10 rhabdomyosarcoma 10.5
11 nephroma 10.5
12 rare tumor 10.5
13 pneumothorax 10.5
14 carcinosarcoma 10.5
15 adenocarcinoma 10.4
16 embryonal rhabdomyosarcoma 10.4
17 cystic adenomatoid malformation of lung 10.4
18 well-differentiated fetal adenocarcinoma of the lung 10.4
19 cystic disease of lung 10.3
20 embryonal carcinoma 10.3
21 lung benign neoplasm 10.3
22 sertoli-leydig cell tumor 10.3
23 medulloepithelioma 10.3
24 tumor predisposition syndrome 10.2
25 spindle cell carcinoma 10.2
26 lung disease 10.2
27 chromosomal triplication 10.2
28 endodermal sinus tumor 10.2
29 teratoma 10.2
30 pulmonary blastoma 10.2
31 testicular yolk sac tumor 10.2
32 adenoma 10.2
33 germ cells tumors 10.2
34 mixed germ cell tumor 10.2
35 pneumothorax, primary spontaneous 10.2
36 respiratory failure 10.2
37 malignant mesenchymoma 10.2
38 hepatoblastoma 10.2
39 goiter 10.1
40 pleural empyema 10.1
41 thyroid carcinoma 10.1
42 retinoblastoma 10.1
43 wilms tumor 1 10.1
44 multinodular goiter 10.1
45 small cell carcinoma 10.1
46 immunoglobulin alpha deficiency 10.1
47 squamous cell papilloma 10.1
48 hemangioma 10.1
49 papilloma 10.1
50 leydig cell tumor 10.1

Graphical network of the top 20 diseases related to Embryoma:



Diseases related to Embryoma

Symptoms & Phenotypes for Embryoma

MGI Mouse Phenotypes related to Embryoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 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 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 4 57-22-7, 2068-78-2 5978
2
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
3
Mesna Approved, Investigational Phase 4 3375-50-6 598
4
leucovorin Approved Phase 4 58-05-9 6006 143
5
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
6
Cisplatin Approved Phase 4 15663-27-1 2767 441203 84093
7
Lenograstim Approved, Investigational Phase 4 135968-09-1
8
Thiotepa Approved, Investigational Phase 4 52-24-4 5453
9
Etoposide Approved Phase 4 33419-42-0 36462
10
Carboplatin Approved Phase 4 41575-94-4 10339178 38904 498142
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
12 Tubulin Modulators Phase 4
13 Antimitotic Agents Phase 4
14 Alkylating Agents Phase 4
15 Immunosuppressive Agents Phase 4
16 Immunologic Factors Phase 4
17 Antirheumatic Agents Phase 4
18 Etoposide phosphate Phase 4
19 Folic Acid Antagonists Phase 4
20 Vitamin B Complex Phase 4
21 Folate Phase 4
22 Dermatologic Agents Phase 4
23 Antimetabolites Phase 4
24 Vitamin B9 Phase 4
25
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
26
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
27
Adenosine Approved, Investigational Phase 2 58-61-7 60961
28 Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
29 Immunoglobulins Phase 2
30 Antineoplastic Agents, Immunological Phase 2
31 Antibodies Phase 2
32 Ado-trastuzumab emtansine Phase 2
33 Antibodies, Monoclonal Phase 2
34 Maytansine Phase 2
35
Doxorubicin Approved, Investigational 23214-92-8 31703
36
Dactinomycin Approved, Investigational 50-76-0 457193 2019
37
Ifosfamide Approved 3778-73-2 3690
38
Isophosphamide mustard 0
39
Liposomal doxorubicin 31703
40 Anti-Infective Agents
41 Anti-Bacterial Agents
42 Antibiotics, Antitubercular

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors Clinical and Molecular Risk-Tailored Intensive and Compressed Induction Chemotherapy Followed by Consolidation With Randomization to Either Single Cycle or to Three Tandem Cycles of Marrow-Ablative Chemotherapy With Autologous Hematopoietic Progenitor Cell Rescue Recruiting NCT02875314 Phase 4 Induction;Single Cycle Intensive Chemotherapy;Tandem 3 Cycle Intensive Chemotherapy
2 Phase II Pilot Trial of Hyperbaric Hyperoxygenation in Conjunction With Radiotherapy and Temozolomide In Adults With Newly Diagnosed Glioblastomas Unknown status NCT00936052 Phase 2
3 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
4 Review of the Paediatric Pleuropulmonary Blastoma French Series Unknown status NCT03044834
5 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
6 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
7 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
8 Follow up of Congenital Lung Anomalies (CLA) With Antenatal Diagnosis - a Swiss Multicentric Database Recruiting NCT03044769
9 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
10 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
11 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
Lung, Kidney, Fetal Lung, Thyroid, Testis, Pituitary, Bone

Publications for Embryoma

Articles related to Embryoma:

(show top 50) (show all 1004)
# Title Authors PMID Year
1
Pleuropulmonary Blastoma Misinterpreted as Spontaneous Pneumothorax in an Infant. 61
32305285 2020
2
Embryonal Tumors of the Central Nervous System: An Update. 61
32389264 2020
3
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
4
Clinical, pathological and treatment factors associated with the survival of patients with pulmonary sarcomatoid carcinoma. 61
32382345 2020
5
Effects of Granulocyte Macrophage Colony-Stimulating Factor Inhibition on the Skin/Nerve Cell Model In Vitro. 61
32502102 2020
6
Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation. 61
32415267 2020
7
Inequalities in diagnosis and registration of pediatric very rare tumors: a European study on pleuropulmonary blastoma. 61
31901982 2020
8
DICER1 Hotspot Mutations in Pleuropulmonary Blastoma: A Case Series From a Tertiary Center. 61
31603374 2020
9
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma. 61
30585947 2020
10
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2020
11
DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor. 61
32291395 2020
12
The Effect of Gross Total Resection on Patients with Pleuropulmonary Blastoma. 61
32353636 2020
13
Pleuropulmonary blastoma: a report from the TREP (Tumori Rari in Età Pediatrica) Project. 61
32270754 2020
14
Pleuropulmonary blastoma type I and congenital pulmonary airway malformation type 4: distinct entities or sides of the same coin? 61
32300881 2020
15
Pituitary Blastoma in a 19-Year-Old Woman: A Case Report and Review of Literature. 61
32339726 2020
16
Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation. 61
32193603 2020
17
Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1. 61
31952842 2020
18
Primary malignant lung tumors in children: A report from the Australian Childhood Cancer Registry, 1983-2015. 61
31909892 2020
19
Pneumonectomy for Pediatric Tumors-a Pediatric Surgical Oncology Research Collaborative Study. 61
32209902 2020
20
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
21
Positive Correlation Between Somatic Mutations in RAS Gene and Colorectal Cancer in Telangana Population: Hospital-Based Study in a Cosmopolitan City. 61
31475312 2020
22
Pleuropulmonary blastoma: A report of two cases. 61
32175165 2020
23
Expanding the spectrum of dicer1-associated sarcomas. 61
31537896 2020
24
Long Term Survival in Patients Suffering from Glio-blastoma Multiforme: A Single-Center Observational Cohort Study. 61
31801254 2019
25
Review of Early Postoperative Metrics for Children Undergoing Resection of Congenital Pulmonary Airway Malformations and Report of Pleuropulmonary Blastoma at a Single Institution. 61
29920635 2019
26
Imaging of DICER1 syndrome. 61
31620849 2019
27
Type I pleuropulmonary blastoma presenting as congenital pulmonary airway malformation: A report of two cases. 61
31611448 2019
28
NCAM1/FGF module serves as a putative pleuropulmonary blastoma therapeutic target. 61
31477684 2019
29
Clinical analysis of early death in children with pleuropulmonary blastoma in a single center in China. 61
31087639 2019
30
Invasive mucinous adenocarcinoma of the lung arising in a type 1 congenital pulmonary airway malformation in a 68-year-old patient: a case report. 61
31262240 2019
31
Extraluminal Use of a Pediatric Bronchial Blocker With Confirmation by Point-of-Care Ultrasound: A Case Report. 61
30688682 2019
32
Diagnostic accuracy of imaging studies in congenital lung malformations. 61
30049725 2019
33
Current Management of Pleuropulmonary Blastoma: A Surgical Perspective. 61
31349569 2019
34
Occlusive radiation cerebral vasculopathy implies medical complexity: a case report. 61
31159883 2019
35
Intraocular medulloepithelioma - A review of clinical features, DICER 1 mutation, and management. 61
31124483 2019
36
Metachronous pleuropulmonary blastoma in an adult patient with endometrial cancer: a case report. 61
31281664 2019
37
Diagnosis and Treatment of Pleuropulmonary Blastoma in Children: A Single-Center Report of 41 Cases. 61
31277979 2019
38
[Differential diagnosis and minimally invasive surgery of an antenatal adrenal mass]. 61
31344193 2019
39
Pulmonary Blastoma in an Adult Presenting With Hemoptysis and Hemothorax. 61
30365956 2019
40
Successful treatment of metastatic cerebral recurrence of pleuropulmonary blastoma. 61
30677214 2019
41
Pleuropulmonary blastoma manifesting as spontaneous pneumothorax: an unusual presentation. 61
31210699 2019
42
Pleuropulmonary Blastoma: More Than a Lung Neoplasm of Childhood. 61
31527943 2019
43
Semicarbazone Derivatives Bearing Phenyl Moiety: Synthesis, Anticancer Activity, Cell Cycle, Apoptosis-Inducing and Metabolic Stability Study. 61
30674756 2019
44
Placental mesenchymal dysplasia: An underdiagnosed placental pathology with various clinical outcomes. 61
30703717 2019
45
Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. 61
30715996 2019
46
The prevalence of germline DICER1 pathogenic variation in cancer populations. 61
30672147 2019
47
Defining and listing very rare cancers of paediatric age: consensus of the Joint Action on Rare Cancers in cooperation with the European Cooperative Study Group for Pediatric Rare Tumors. 61
30785015 2019
48
DICER1 mutation-positive giant botryoid fibroepithelial polyp of the urinary bladder mimicking embryonal rhabdomyosarcoma. 61
29883781 2019
49
Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings. 61
30665929 2019
50
Type II pleuropulmonary blastoma in a 2-year-old girl: a case report. 61
32239109 2019

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 nucleus GO:0005634 9.56 SRRT SALL4 NFIX NAT10 GATA5 FOXL1
2 nuclear chromatin GO:0000790 8.92 NFIX 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, DNA-templated GO:0006355 9.43 SRRT SALL4 NFIX GATA5 FOXL1 FOXJ1
3 heart development GO:0007507 9.33 SALL4 FOXL1 FOXJ1
4 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 transcription factor activity, RNA polymerase II-specific GO:0000981 9.46 NFIX GATA5 FOXL1 FOXJ1
2 DNA binding GO:0003677 9.43 SRRT SALL4 NFIX GATA5 FOXL1 FOXJ1
3 DNA-binding transcription factor activity GO:0003700 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
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
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