PPB
MCID: PLR004
MIFTS: 65

Pleuropulmonary Blastoma (PPB) malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Cancer diseases

Aliases & Classifications for Pleuropulmonary Blastoma

Aliases & Descriptions for Pleuropulmonary Blastoma:

Name: Pleuropulmonary Blastoma 54 12 50 24 56 66 29 13 42 14 69
Ppbftds 24 56 66
Ppb 50 24 66
Ppb Familial Tumor and Dysplasia Syndrome 24 66
Respiratory Tract Neoplasms 42 69
Pulmonary Blastoma 50 69
Dicer1 Syndrome 56 69
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome 56
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome 56
Ppb Familial Tumor Susceptibility Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
pleuropulmonary blastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;
pleuropulmonary blastoma familial tumor susceptibility syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

HPO:

32
pleuropulmonary blastoma:
Inheritance autosomal dominant inheritance familial predisposition


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 601200
Disease Ontology 12 DOID:4769
NCIt 47 C5669
SNOMED-CT 64 128763002 707670009
ICD10 via Orphanet 34 C34.3 C34.9 C34.2 more
MESH via Orphanet 43 C537516
UMLS via Orphanet 70 C1266144
MedGen 40 C1266144
UMLS 69 C1266144

Summaries for Pleuropulmonary Blastoma

OMIM : 54 Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is... (601200) more...

MalaCards based summary : Pleuropulmonary Blastoma, also known as ppbftds, is related to dicer1-related pleuropulmonary blastoma cancer predisposition syndrome and pleuropulmonary blastoma type 1, and has symptoms including abnormality of metabolism/homeostasis, rhabdomyosarcoma and medulloblastoma. An important gene associated with Pleuropulmonary Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are Downstream signaling events of B Cell Receptor (BCR) and MAPK signaling pathway. The drugs Cisplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and fetal lung, and related phenotypes are cardiovascular system and cellular

Disease Ontology : 12 A pulmonary blastoma that derives from the lung or pleural cavity.

UniProtKB/Swiss-Prot : 66 Pleuropulmonary blastoma: A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor.

Wikipedia : 71 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

Related Diseases for Pleuropulmonary Blastoma

Diseases in the Pleuropulmonary Blastoma family:

Pleuropulmonary Blastoma Type 1 Pleuropulmonary Blastoma Type 2
Pleuropulmonary Blastoma Type 3

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

(show top 50) (show all 71)
id Related Disease Score Top Affiliating Genes
1 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.4
2 pleuropulmonary blastoma type 1 12.2
3 pleuropulmonary blastoma type 3 12.0
4 pleuropulmonary blastoma type 2 12.0
5 dicer1-related disorders 11.3
6 blastoma 11.0
7 cystic nephroma 10.3
8 pneumothorax 10.3
9 vulvar benign neoplasm 10.2 DICER1 TP53
10 medulloepithelioma 10.2
11 congenital pulmonary airway malformation 10.2
12 exudative glomerulonephritis 10.2 DICER1 TP53
13 pulmonary blastoma 10.1
14 pineoblastoma 10.1 MYCN TP53
15 duodenal ulcer 10.1 MYCN TP53
16 childhood brain germinoma 10.1 MYCN TP53
17 thyroiditis 10.1
18 rhabdomyosarcoma 10.1
19 tumor predisposition syndrome 10.1
20 cerebritis 10.1
21 scaphocephaly, maxillary retrusion, and mental retardation 10.1 FGF10 FGF9
22 cervical cancer, somatic 10.0 FGF10 FGF9
23 verruciform xanthoma of skin 10.0 MB TP53
24 acantholytic squamous cell skin carcinoma 10.0 MB TP53
25 functionless pituitary adenoma 10.0 MB TP53
26 choriocarcinoma of ovary 10.0 MB TP53
27 statin toxicity 10.0 SHH TP53
28 porphyria 10.0 FGF10 MB
29 endodermal sinus tumor 10.0 MB TP53
30 intraorbital meningioma 10.0 MB TP53
31 arthus reaction 10.0 MB TP53
32 thyroid cancer 10.0
33 teratoma 10.0
34 adrenal cortical hypofunction 10.0 MYCN SHH
35 saddan 10.0 FGF10 FGF9
36 extracutaneous mastocytoma 10.0 MB MYCN
37 alpha chain disease 10.0 SHH TP53
38 spindle cell rhabdomyosarcoma 9.9 DICER1 MB
39 hyperandrogenism 9.9 MB MYCN
40 major affective disorder 1 9.9 MB SHH
41 childhood central nervous system primitive neuroectodermal neoplasm 9.9 MYCN SHH TP53
42 extragonadal germ cell cancer 9.9 MYCN SHH TP53
43 mediastinum sarcoma 9.9 MB TP53
44 thoracic outlet syndrome 9.9 MYCN SHH TP53
45 bone deterioration disease 9.9 DICER1 MB TP53
46 basal cell nevus syndrome 9.9 MYCN SHH TP53
47 respiratory failure 9.8
48 pancreatitis 9.8
49 choroiditis 9.8
50 kidney disease 9.8

Graphical network of the top 20 diseases related to Pleuropulmonary Blastoma:



Diseases related to Pleuropulmonary Blastoma

Symptoms & Phenotypes for Pleuropulmonary Blastoma

Symptoms by clinical synopsis from OMIM:

601200

Clinical features from OMIM:

601200

Human phenotypes related to Pleuropulmonary Blastoma:

32
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 rhabdomyosarcoma 32 HP:0002859
3 medulloblastoma 32 HP:0002885
4 pleuropulmonary blastoma 32 HP:0100528

UMLS symptoms related to Pleuropulmonary Blastoma:


dyspnea, coughing, fever, hemoptysis, chest pain, respiratory distress

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 DICER1 FGF10 FGF9 MB MYCN SHH
2 cellular MP:0005384 10.12 DICER1 FGF10 FGF9 MB MYCN SHH
3 behavior/neurological MP:0005386 10.07 MYCN SHH TP53 DICER1 FGF10 FGF9
4 growth/size/body region MP:0005378 10.07 DICER1 FGF10 FGF9 MB MYCN SHH
5 craniofacial MP:0005382 10.04 DICER1 FGF10 FGF9 MYCN SHH TP53
6 homeostasis/metabolism MP:0005376 10.04 DICER1 FGF10 FGF9 MB MYCN SHH
7 embryo MP:0005380 10.02 DICER1 FGF10 MB MYCN SHH TP53
8 mortality/aging MP:0010768 9.98 DICER1 FGF10 FGF9 MB MYCN SHH
9 digestive/alimentary MP:0005381 9.96 FGF10 FGF9 MYCN SHH TP53
10 endocrine/exocrine gland MP:0005379 9.93 DICER1 FGF10 FGF9 SHH TP53
11 limbs/digits/tail MP:0005371 9.93 FGF10 FGF9 MYCN SHH TP53 DICER1
12 integument MP:0010771 9.88 DICER1 FGF10 FGF9 SHH TP53
13 muscle MP:0005369 9.88 FGF10 FGF9 MB MYCN SHH TP53
14 normal MP:0002873 9.85 DICER1 FGF10 FGF9 MYCN SHH TP53
15 hearing/vestibular/ear MP:0005377 9.81 FGF10 FGF9 SHH TP53
16 reproductive system MP:0005389 9.73 DICER1 FGF10 FGF9 MYCN SHH TP53
17 renal/urinary system MP:0005367 9.72 DICER1 FGF10 MYCN SHH TP53
18 respiratory system MP:0005388 9.7 DICER1 FGF10 FGF9 MB MYCN SHH
19 skeleton MP:0005390 9.43 FGF9 MYCN SHH TP53 DICER1 FGF10
20 vision/eye MP:0005391 9.1 TP53 DICER1 FGF10 FGF9 MYCN SHH

Drugs & Therapeutics for Pleuropulmonary Blastoma

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

(show top 50) (show all 829)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 15663-27-1 84093 441203 2767
2
Gemcitabine Approved Phase 4,Phase 3,Phase 2,Phase 1 95058-81-4 60750
3
Pemetrexed Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 150399-23-8, 137281-23-3 446556 60843
4
Gefitinib Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 184475-35-2 123631
5
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1 33419-42-0 36462
6
Dalteparin Approved Phase 4,Phase 3,Phase 1,Phase 2 9041-08-1
7
Heparin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 9005-49-6 772 46507594
8
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 2078-54-8 4943
9
Vinblastine Approved Phase 4,Phase 3,Phase 2,Phase 1 865-21-4 13342 241903
10
Vinorelbine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 71486-22-1 60780 44424639
11
Carboplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 41575-94-4 10339178 498142 38904
12
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
13
Zoledronic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 118072-93-8 68740
14
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
15
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Early Phase 1 22916-47-8 4189
16
Paclitaxel Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 33069-62-4 36314
17
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
18
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
19
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
20
Remifentanil Approved Phase 4 132875-61-7 60815
21
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-02-2 5743
22
Trioxsalen Approved Phase 4,Phase 2 3902-71-4 5585
23
Irinotecan Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 97682-44-5, 100286-90-6 60838
24
Acetylcysteine Approved, Investigational Phase 4,Phase 2 616-91-1 12035
25
Crizotinib Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
26
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
27
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
28
Alfentanil Approved, Illicit Phase 4 71195-58-9 51263
29
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Early Phase 1 137-58-6 3676
30
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
31
Nicotine Approved Phase 4,Phase 3,Phase 1 54-11-5 942 89594
32
Armodafinil Approved, Investigational Phase 4,Phase 1,Phase 2 112111-43-0
33
Modafinil Approved, Investigational Phase 4,Phase 1,Phase 2 68693-11-8 4236
34
Menthol Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 2216-51-5 16666
35
Budesonide Approved Phase 4,Phase 2,Phase 1 51333-22-3 63006 5281004
36
Osimertinib Approved Phase 4,Phase 3,Phase 2,Phase 1 1421373-65-0 71496458
37
Pembrolizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 1374853-91-4
38
Desflurane Approved Phase 4 57041-67-5 42113
39
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
40
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
41
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3 2180-92-9, 38396-39-3 2474
42
Ipratropium Approved Phase 4 22254-24-6, 60205-81-4 43232
43
Terbutaline Approved Phase 4 23031-25-6 5403
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-05-9 54575, 6560146 143
46
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
47
Docetaxel Approved May 1996, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 114977-28-5 148124 9877265
48
Camptothecin Experimental Phase 4,Phase 3,Phase 2,Phase 1 7689-03-4
49 Deoxyglucose Phase 4,Phase 3,Phase 2,Phase 1
50 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 5001)
id Name Status NCT ID Phase
1 Positron Emission Tomography (PET)/Computed Tomography (CT) and Roentgen in Lung Cancer: Evaluation of Patients in General Practice Unknown status NCT00675168 Phase 4
2 The Randomized Controlled Clinical Trial of Kushen Injection Unknown status NCT02346318 Phase 4
3 Chemotherapy Combined With Yangzhengxiaoji Capsule in Patients With Advanced Non-Small Cell Lung Cancer Unknown status NCT02195453 Phase 4
4 PharmacoEconomic Assessment IRESSA® in the Treatment of Non-Small-Cell Lung Cancer (NSCLC) Unknown status NCT00173524 Phase 4
5 A Study of Endostar Combined With Chemotherapy Followed by Endostar Maintenance Therapy to Treat Advanced Non-small Cell Lung Cancer (NSCLC) Unknown status NCT01028729 Phase 4
6 Study of Concurrent Chemo-radiotherapy Combined With Recombinant Human Endostatin for Local Advanced Non-small Cell Lung Cancer (NSCLC) Unknown status NCT01211002 Phase 4
7 Maintenance Gemcitabine in the Chinese Advanced Lung Cancer Unknown status NCT01336192 Phase 4
8 Second-line Therapy Study of Combined Chemotherapy and Endostar to Patients With Non-Small Cell Lung Cancer(NSCLC) Unknown status NCT00813332 Phase 4
9 Comparison the Level of CTGF Protein and Related Cytokine in Pleural Effusion Unknown status NCT00313066 Phase 4
10 Intermittent Use of Aerosolized Ribavirin for Treatment of RSV Completed NCT00500578 Phase 4
11 Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer Completed NCT01741506 Phase 4
12 Fentanyl Matrix in Lung Cancer Pain Completed NCT01060137 Phase 4
13 Anesthesia in Flexible Bronchoscopy for Lung Cancer Diagnostic Completed NCT00440960 Phase 4
14 Staple-line Reinforcement for Prevention of Pulmonary Air Leakage Completed NCT00925444 Phase 4
15 Recombinant Human Endostatin Combined With NP in Neoadjuvant Chemotherapy of Stage ⅢA NSCLC Completed NCT02497118 Phase 4
16 Safety Study of Adjuvant Docetaxel-Carboplatin Treatment for Resected Lung Cancer Completed NCT00883675 Phase 4
17 An Expanded Access Program of Tarceva (Erlotinib) in Participants With Advanced Non-Small Cell Lung Cancer (NSCLC) Completed NCT00949910 Phase 4
18 A Study of Avastin in Combination With Chemotherapy for Treatment of Colorectal Cancer and Non-Small Cell Lung Cancer (ARIES) Completed NCT00388206 Phase 4
19 Efficacy and Safety Study of ZOMETA® in Treatment of High-level NTX Non Small Cell Lung Cancer With Bone Metastasis Completed NCT00762346 Phase 4
20 Assess the Efficacy, Safety and Tolerability of Gefitinib (Iressa® 250mg) as Maintenance Therapy in Locally Advanced or Metastatic (Stage IIIB/IV) Non Small Cell Lung Cancer (NSCLC) Completed NCT00770588 Phase 4
21 Chemotherapy for Patients With Non-Small Cell Lung Cancer Completed NCT00380718 Phase 4
22 RAD001 With Paclitaxel and Carboplatin in First Line Treatment of Patients With Advanced Large Cell Lung Cancer With Neuroendocrine Differentiation Completed NCT01317615 Phase 4
23 Non-small Cell Lung Cancer Registry Completed NCT00099541 Phase 4
24 A Study of Tarceva (Erlotinib) in Elderly Patients With Advanced Non-Small Cell Lung Cancer Completed NCT01196078 Phase 4
25 "Red Morphine Drops" for Symptomatic Treatment of Dyspnoea in Lung Cancer Completed NCT00338481 Phase 4
26 Screening Non Small Cell Lung Cancer With Bone Metastasis and Efficacy and Safety Research of Receiving Bisphosphonates Completed NCT00765687 Phase 4
27 A Study in Non-squamous Non Small Cell Lung Cancer in Asian Patients Completed NCT01020786 Phase 4
28 Concurrent Chemoradiotherapy (CCRT) With Paclitaxel Plus Cisplatin in LA Non-small-cell Lung Cancer (NSCLC) Completed NCT00686322 Phase 4
29 A Study of Tarceva (Erlotinib) in Patients With Locally Advanced or Metastatic Non-small Cell Lung Cancer Who Present EGFR Mutations Completed NCT01287754 Phase 4
30 A Study of Avastin (Bevacizumab) in Combination With Platinum-Containing Chemotherapy in Patients With Advanced or Recurrent Non-Squamous Cell Lung Cancer. Completed NCT00451906 Phase 4
31 A Study of Tarceva (Erlotinib) in Patients With Locally Advanced or Metastatic Non-small Cell Lung Cancer Following 4 Cycles of Platinum-based Chemotherapy Without Disease Progression Completed NCT01230710 Phase 4
32 Open-label Study in Patients With Metastatic NSLC Treated With Cisplatin, Gemcitabine and Bevacizumab Completed NCT02316327 Phase 4
33 Pemetrexed Followed by Docetaxel or in Reverse Sequence Completed NCT01442909 Phase 4
34 A Study on the Long Term Survivals in an Expand Access Program (EAP) of Iressa Completed NCT01000740 Phase 4
35 A Study of First or Second Line Treatment With Tarceva (Erlotinib) in Patients With Advanced Non-Small Cell Lung Cancer Completed NCT01066884 Phase 4
36 Neulasta® in Subjects With Advanced Non-Small-Cell Lung Cancer (NSCLC) During Chemotherapy Completed NCT00115206 Phase 4
37 Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking Completed NCT00365508 Phase 4
38 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4
39 Conventional Versus Ultrasound-guided Transbronchial Needle Aspiration for the Diagnosis of Hilar/Mediastinal Lymphadenopathies Completed NCT01658280 Phase 4
40 SELINE: Second-Line Iressa Phase IV Study in NSCLC Patients Completed NCT00608868 Phase 4
41 Progression Free Survival (PFS) Using Erlotinib for Non-Small-Cell Lung Cancer (NSCLC) in Chinese Population Completed NCT02000531 Phase 4
42 Modafinil for the Treatment of Fatigue in Lung Cancer V9.0 Completed NCT00829322 Phase 4
43 Ultrathin Bronchoscopy for Solitary Pulmonary Nodules Completed NCT02490059 Phase 4
44 A Study of Tarceva (Erlotinib) in First Line in Patients With Locally Advanced or Metastatic Lung Adenocarcinoma With EGFR Mutations Completed NCT01609543 Phase 4
45 Post-marketing Surveillance Study of Docetaxel-Based Chemotherapy Completed NCT02972216 Phase 4
46 Dose Escalation Of Icotinib In Previously Treated Patients With Routine Dose Completed NCT01465243 Phase 4
47 Iressa Case Control Study in Japan Completed NCT00252759 Phase 4
48 Safety Profile of Iodopovidone as an Agent for Pleurodesis in Malignant Pleural Effusion Completed NCT01670786 Phase 4
49 Impact of Aggressive Versus Standard Drainage Regimen Using a Long Term Indwelling Pleural Catheter Completed NCT00978939 Phase 4
50 Talc Pleurodesis in Patients With Recurrent Malignant Pleural Effusion Completed NCT00789087 Phase 4

Search NIH Clinical Center for Pleuropulmonary Blastoma

Cochrane evidence based reviews: respiratory tract neoplasms

Genetic Tests for Pleuropulmonary Blastoma

Genetic tests related to Pleuropulmonary Blastoma:

id Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma 29 24 DICER1

Anatomical Context for Pleuropulmonary Blastoma

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

39
Lung, Kidney, Fetal Lung, Thyroid, Testes, Lymph Node, Spinal Cord

Publications for Pleuropulmonary Blastoma

Articles related to Pleuropulmonary Blastoma:

(show top 50) (show all 171)
id Title Authors Year
1
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
2
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. ( 28097783 )
2017
3
A Case Report of Pleuropulmonary Blastoma Presenting as Tension Pneumothorax. ( 28469342 )
2017
4
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature. ( 27718333 )
2017
5
The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28103635 )
2017
6
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
7
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2016
8
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
9
Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma. ( 26907828 )
2016
10
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
11
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
12
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2016
13
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
14
Giant pleuropulmonary blastoma. ( 27341849 )
2016
15
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
16
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
17
Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma. ( 25500911 )
2015
18
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. ( 26454454 )
2015
19
Pleuropulmonary blastoma: a case report. ( 25560611 )
2015
20
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2015
21
Infant pleuropulmonary blastoma: report of a rare case and review of literature. ( 26722577 )
2015
22
Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma. ( 25978641 )
2015
23
Pleuropulmonary blastoma in adolescence: A rare tumor beyond first decade of life. ( 25983419 )
2015
24
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2015
25
Radiographic Screening of Infants and Young Children With Genetic Predisposition for Rare Malignancies: DICER1 Mutations and Pleuropulmonary Blastoma. ( 25794098 )
2015
26
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
27
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
28
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
29
Radiologic diagnosis of a type-III pleuropulmonary blastoma. ( 25786292 )
2014
30
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
31
Type III pleuropulmonary blastoma in a 7-month-old female baby with impending respiratory failure: a case report. ( 24958022 )
2014
32
Pleuropulmonary blastoma type III extended into the left atrium in a 16-month old boy. ( 24599167 )
2014
33
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. ( 24675358 )
2014
34
Treatment and prognostic factors in pleuropulmonary blastoma: An EXPeRT report. ( 24041875 )
2014
35
Nasal chondromesenchymal hamartoma in an adolescent with pleuropulmonary blastoma. ( 25129191 )
2014
36
Case 211: Pleuropulmonary Blastoma in Association with Cystic Nephroma-DICER1 Syndrome. ( 25340273 )
2014
37
Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25176323 )
2014
38
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. ( 24079261 )
2014
39
Pleuropulmonary blastoma: A report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. ( 25209242 )
2014
40
Diagnosis and treatment of pleuropulmonary blastoma-single center experience. ( 24692196 )
2014
41
Thoracoscopic lobectomy for type I pleuropulmonary blastoma in an infant. ( 23588846 )
2014
42
Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma. ( 24513630 )
2014
43
Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25251372 )
2014
44
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. ( 24909177 )
2014
45
Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. ( 24821309 )
2014
46
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. ( 25118636 )
2014
47
Pleuropulmonary blastoma: a case report and review of the literature. ( 25177506 )
2014
48
An unusual manifestation of a rare pleuropulmonary blastoma presenting with spinal cord compression and its neurosurgical implications. ( 23639617 )
2013
49
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. ( 23868280 )
2013
50
Pleuropulmonary blastoma. ( 24003574 )
2013

Variations for Pleuropulmonary Blastoma

UniProtKB/Swiss-Prot genetic disease variations for Pleuropulmonary Blastoma:

66
id Symbol AA change Variation ID SNP ID
1 DICER1 p.Leu1583Arg VAR_063150 rs137852976

ClinVar genetic disease variations for Pleuropulmonary Blastoma:

6 (show top 50) (show all 99)
id Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh37 Chromosome 14, 95562509: 95562509
2 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 GRCh37 Chromosome 14, 95583961: 95583961
3 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh37 Chromosome 14, 95572535: 95572535
4 DICER1 DICER1, 1-BP INS, 2574A insertion Pathogenic
5 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh37 Chromosome 14, 95582912: 95582912
6 DICER1 DICER1, SER1826TER single nucleotide variant Pathogenic
7 DICER1 NM_177438.2(DICER1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs763801533 GRCh37 Chromosome 14, 95596409: 95596409
8 DICER1 NM_177438.2(DICER1): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs864622626 GRCh37 Chromosome 14, 95596479: 95596479
9 DICER1 NM_177438.2(DICER1): c.4754C> G (p.Ser1585Ter) single nucleotide variant Pathogenic rs875989779 GRCh37 Chromosome 14, 95562503: 95562503
10 DICER1 NM_177438.2(DICER1): c.4407_4410delTTCT (p.Ser1470Leufs) deletion Pathogenic rs875989784 GRCh37 Chromosome 14, 95562847: 95562850
11 DICER1 NM_177438.2(DICER1): c.5315_5316delTT (p.Phe1772Cysfs) deletion Pathogenic rs878855274 GRCh38 Chromosome 14, 95093936: 95093937
12 DICER1 NM_177438.2(DICER1): c.4004dupA (p.Tyr1335Terfs) duplication Pathogenic rs878855262 GRCh37 Chromosome 14, 95569729: 95569729
13 DICER1 NM_177438.2(DICER1): c.2026C> T (p.Arg676Ter) single nucleotide variant Pathogenic rs878855246 GRCh38 Chromosome 14, 95113106: 95113106
14 DICER1 NM_177438.2(DICER1): c.5465A> T (p.D1822V) single nucleotide variant Pathogenic rs886037729 GRCh37 Chromosome 14, 95557602: 95557602
15 DICER1 NM_177438.2(DICER1): c.5394delA (p.E1799Kfs*39) deletion Pathogenic rs886037728 GRCh38 Chromosome 14, 95091336: 95091336
16 DICER1 NM_177438.2(DICER1): c.5096-498_5364+356del deletion Pathogenic GRCh38 Chromosome 14, 95093532: 95094654
17 DICER1 NM_177438.2(DICER1): c.5299delC (p.H1767Mfs*71) deletion Pathogenic rs886037727 GRCh38 Chromosome 14, 95093953: 95093953
18 DICER1 NM_177438.2(DICER1): c.5251_5255delAAGTA (p.K1751Rfs*12) deletion Pathogenic rs886037726 GRCh37 Chromosome 14, 95560334: 95560338
19 DICER1 NM_177438.2(DICER1): c.5194dupC (p.L1732Pfs*33) duplication Pathogenic rs886037725 GRCh38 Chromosome 14, 95094058: 95094058
20 DICER1 NM_177438.2(DICER1): c.5123G> A (p.G1708E) single nucleotide variant Pathogenic rs886037724 GRCh38 Chromosome 14, 95094129: 95094129
21 DICER1 NM_177438.2(DICER1): c.5104C> T (p.Q1702*) single nucleotide variant Pathogenic rs886037723 GRCh38 Chromosome 14, 95094148: 95094148
22 DICER1 NM_177438.2(DICER1): c.5095+1G> C single nucleotide variant Pathogenic rs886037722 GRCh37 Chromosome 14, 95562161: 95562161
23 DICER1 NM_177438.2(DICER1): c.5053C> T (p.Q1685*) single nucleotide variant Pathogenic rs886037721 GRCh38 Chromosome 14, 95095867: 95095867
24 DICER1 NM_177438.2(DICER1): c.4960_4961dupGA (p.D1654Efs*7) duplication Pathogenic rs886037720 GRCh38 Chromosome 14, 95095959: 95095960
25 DICER1 NM_177438.2(DICER1): c.4626delG (p.Q1542Hfs*18) deletion Pathogenic rs886037719 GRCh38 Chromosome 14, 95096294: 95096294
26 DICER1 NM_177438.2(DICER1): c.4621A> T (p.K1541*) single nucleotide variant Pathogenic rs886037718 GRCh37 Chromosome 14, 95562636: 95562636
27 DICER1 NM_177438.2(DICER1): c.4605_4606delTG (p.C1535Wfs*3) deletion Pathogenic rs886037717 GRCh38 Chromosome 14, 95096314: 95096315
28 DICER1 NM_177438.2(DICER1): c.4517G> A (p.W1506*) single nucleotide variant Pathogenic rs886037716 GRCh38 Chromosome 14, 95096403: 95096403
29 DICER1 NM_177438.2(DICER1): c.4511delG (p.S1504Tfs*56) deletion Pathogenic rs886037715 GRCh38 Chromosome 14, 95096409: 95096409
30 DICER1 NM_177438.2(DICER1): c.4426_4427insT (p.D1476Vfs5*) insertion Pathogenic rs886037714 GRCh38 Chromosome 14, 95096493: 95096494
31 DICER1 NM_177438.2(DICER1): c.4407_4408delTT (p.P1471Ffs*5) deletion Pathogenic rs886037713 GRCh38 Chromosome 14, 95096512: 95096513
32 DICER1 NM_177438.2(DICER1): c.4309_4312delGACT (p.D1437Mfs*16) deletion Pathogenic rs886037712 GRCh38 Chromosome 14, 95096608: 95096611
33 DICER1 NM_177438.2(DICER1): c.4190G> A (p.W1397*) single nucleotide variant Pathogenic rs886037711 GRCh38 Chromosome 14, 95099796: 95099796
34 DICER1 NM_177438.2(DICER1): c.3875_3878delCCAA (p.P1292Lfs*9) deletion Pathogenic rs886037710 GRCh38 Chromosome 14, 95103518: 95103521
35 DICER1 NM_177438.2(DICER1): c.3777dupC (p.V1260Rfs*19) duplication Pathogenic rs886037709 GRCh38 Chromosome 14, 95103619: 95103619
36 DICER1 NM_177438.2(DICER1): c.3726C> A (p.Y1242*) single nucleotide variant Pathogenic rs886037708 GRCh38 Chromosome 14, 95103670: 95103670
37 DICER1 NM_177438.2(DICER1): c.3676G> T (p.E1226*) single nucleotide variant Pathogenic rs748087536 GRCh38 Chromosome 14, 95103720: 95103720
38 DICER1 NM_177438.2(DICER1): c.3658C> T (p.Q1220*) single nucleotide variant Pathogenic rs886037707 GRCh38 Chromosome 14, 95103738: 95103738
39 DICER1 NM_177438.2(DICER1): c.3589delT (p.C1197Afs*6) deletion Pathogenic rs886037706 GRCh38 Chromosome 14, 95103807: 95103807
40 DICER1 NM_177438.2(DICER1): c.3579_3580delCA (p.N1193Kfs*41) deletion Pathogenic rs886037705 GRCh37 Chromosome 14, 95570153: 95570154
41 DICER1 NM_177438.2(DICER1): c.3540C> A (p.Y1180*) single nucleotide variant Pathogenic rs886037704 GRCh37 Chromosome 14, 95570193: 95570193
42 DICER1 NM_177438.2(DICER1): c.3538_3539delTA (p.Y1180Qfs*10) deletion Pathogenic rs886037703 GRCh37 Chromosome 14, 95570194: 95570195
43 DICER1 NM_177438.2(DICER1): c.3534_3535insAA (p.S1179Nfs*14) insertion Pathogenic rs886037702 GRCh37 Chromosome 14, 95570198: 95570199
44 DICER1 NM_177438.2(DICER1): c.3515_3525delTTACAGCAATTinsA (p.L1172Qfs*17) indel Pathogenic rs886037701 GRCh38 Chromosome 14, 95103871: 95103881
45 DICER1 NM_177438.2(DICER1): c.3300delA (p.K1100Nfs*44) deletion Pathogenic rs886037700 GRCh38 Chromosome 14, 95104096: 95104096
46 DICER1 NM_177438.2(DICER1): c.3277_3280delAACT (p.N1093*) deletion Pathogenic rs886037699 GRCh38 Chromosome 14, 95104116: 95104119
47 DICER1 NM_177438.2(DICER1): c.3273C> G (p.Y1091*) single nucleotide variant Pathogenic rs886037698 GRCh38 Chromosome 14, 95104123: 95104123
48 DICER1 NM_177438.2(DICER1): c.3175dupT (p.Y1059Lfs*32) duplication Pathogenic rs886037697 GRCh37 Chromosome 14, 95571502: 95571502
49 DICER1 NM_177438.2(DICER1): c.3135_3137delATCinsTGAACTCATG (p.S1046Efs*47) indel Pathogenic rs886037696 GRCh37 Chromosome 14, 95571540: 95571542
50 DICER1 NM_177438.2(DICER1): c.2888_2889delCT (p.P963Rfs*3) deletion Pathogenic rs886037695 GRCh38 Chromosome 14, 95106139: 95106140

Expression for Pleuropulmonary Blastoma

Search GEO for disease gene expression data for Pleuropulmonary Blastoma.

Pathways for Pleuropulmonary Blastoma

Pathways related to Pleuropulmonary Blastoma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 FGF10 FGF9 TP53
2 12.17 FGF10 FGF9 TP53
3 11.97 FGF10 FGF9 TP53
4 11.52 FGF10 FGF9 SHH TP53
5 11.14 MYCN TP53
6 10.84 FGF10 SHH
7 10.62 FGF10 SHH

GO Terms for Pleuropulmonary Blastoma

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

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.97 FGF10 MYCN SHH TP53
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.92 DICER1 FGF9 SHH TP53
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 FGF10 MYCN SHH TP53
4 cell-cell signaling GO:0007267 9.83 FGF10 FGF9 SHH
5 positive regulation of cell proliferation GO:0008284 9.83 FGF10 FGF9 MYCN SHH
6 angiogenesis GO:0001525 9.8 FGF10 FGF9 SHH
7 positive regulation of gene expression GO:0010628 9.71 FGF9 MYCN SHH TP53
8 determination of left/right symmetry GO:0007368 9.69 FGF10 SHH
9 inner ear morphogenesis GO:0042472 9.69 FGF10 FGF9
10 positive regulation of epithelial cell proliferation GO:0050679 9.68 FGF10 FGF9
11 negative regulation of cell differentiation GO:0045596 9.68 FGF10 SHH
12 embryonic digit morphogenesis GO:0042733 9.68 MYCN SHH
13 odontogenesis of dentin-containing tooth GO:0042475 9.68 FGF10 SHH
14 negative regulation of Wnt signaling pathway GO:0030178 9.67 FGF9 SHH
15 embryonic limb morphogenesis GO:0030326 9.67 FGF9 SHH
16 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.66 FGF10 FGF9
17 positive regulation of cell division GO:0051781 9.66 FGF9 SHH
18 thymus development GO:0048538 9.65 FGF10 SHH
19 positive regulation of Wnt signaling pathway GO:0030177 9.65 FGF10 SHH
20 embryonic skeletal system development GO:0048706 9.64 FGF9 SHH
21 limb development GO:0060173 9.64 FGF10 SHH
22 metanephros development GO:0001656 9.63 FGF10 SHH
23 phosphatidylinositol-mediated signaling GO:0048015 9.63 FGF10 FGF9 TP53
24 positive regulation of smoothened signaling pathway GO:0045880 9.62 FGF9 SHH
25 embryonic pattern specification GO:0009880 9.61 FGF10 SHH
26 pancreas development GO:0031016 9.61 FGF10 SHH
27 hair follicle morphogenesis GO:0031069 9.6 FGF10 SHH
28 thyroid gland development GO:0030878 9.59 FGF10 SHH
29 lung morphogenesis GO:0060425 9.58 FGF10 SHH
30 embryonic digestive tract morphogenesis GO:0048557 9.57 FGF10 SHH
31 embryonic digestive tract development GO:0048566 9.56 FGF10 FGF9
32 epithelial tube branching involved in lung morphogenesis GO:0060441 9.55 FGF10 SHH
33 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.54 FGF10 FGF9
34 branching involved in salivary gland morphogenesis GO:0060445 9.51 FGF10 SHH
35 limb bud formation GO:0060174 9.49 FGF10 SHH
36 lung-associated mesenchyme development GO:0060484 9.48 FGF9 SHH
37 lung epithelium development GO:0060428 9.43 FGF10 SHH
38 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.37 FGF10 SHH
39 branching morphogenesis of an epithelial tube GO:0048754 9.33 FGF10 MYCN SHH
40 animal organ formation GO:0048645 9.32 FGF10 SHH
41 bud outgrowth involved in lung branching GO:0060447 9.26 FGF10 SHH
42 positive regulation of mesenchymal cell proliferation GO:0002053 9.13 FGF9 MYCN SHH
43 lung development GO:0030324 8.92 FGF10 FGF9 MYCN SHH

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 FGF10 FGF9
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.96 FGF10 FGF9
3 fibroblast growth factor receptor binding GO:0005104 8.62 FGF10 FGF9

Sources for Pleuropulmonary Blastoma

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