PPB
MCID: PLR004
MIFTS: 65

Pleuropulmonary Blastoma (PPB)

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

Aliases & Classifications for Pleuropulmonary Blastoma

MalaCards integrated aliases for Pleuropulmonary Blastoma:

Name: Pleuropulmonary Blastoma 57 12 20 58 72 29 13 6 44 15 17 70
Ppb Familial Tumor and Dysplasia Syndrome 57 72 6
Ppbftds 57 58 72
Ppb 57 20 72
Respiratory Tract Neoplasms 44 70
Pulmonary Blastoma 20 70
Dicer1 Syndrome 58 70
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome 58
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome 58
Ppb Familial Tumor and Dysplasia Syndrome; Ppbftds 57
Ppb Familial Tumor Susceptibility Syndrome 58
Blastoma, Pleuropulmonary 39

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset before age 5 years
decreased penetrance


HPO:

31
pleuropulmonary blastoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:4769
OMIM® 57 601200
NCIt 50 C5669
SNOMED-CT 67 707670009
MESH via Orphanet 45 C537516
ICD10 via Orphanet 33 C34.1 C34.2 C34.3 more
UMLS via Orphanet 71 C1266144
MedGen 41 C1266144
UMLS 70 C0035244 C0206629 C1266144 more

Summaries for Pleuropulmonary Blastoma

OMIM® : 57 Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs 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 'cambium' 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 (Priest et al., 1996). In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010). Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011). (601200) (Updated 05-Apr-2021)

MalaCards based summary : Pleuropulmonary Blastoma, also known as ppb familial tumor and dysplasia syndrome, is related to pulmonary blastoma and nephroma, and has symptoms including fever, dyspnea and hemoptysis. An important gene associated with Pleuropulmonary Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are Pathways in cancer and MAPK signaling pathway. The drugs Carboplatin and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include lung, fetal lung and thyroid, and related phenotypes are medulloblastoma and pleuropulmonary blastoma

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

UniProtKB/Swiss-Prot : 72 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 : 73 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 306)
# Related Disease Score Top Affiliating Genes
1 pulmonary blastoma 31.0 TP53 MIRLET7B MIRLET7A1 MIR708 MIR125B1 MIR125A
2 nephroma 30.8 U2AF1 IGF2 DICER1 DES
3 malignant mesenchymoma 30.7 MB DES
4 embryonal rhabdomyosarcoma 30.6 TP53 MYCN MB IGF2 DICER1 DES
5 papilloma of choroid plexus 30.5 TP53 S100B IGF2
6 embryonal sarcoma 30.5 TP53 S100B DES
7 carcinosarcoma 30.5 TP53 MB DES
8 rhabdomyosarcoma 30.3 TP53 SHH S100B MYCN MB IGF2
9 malignant fibrous histiocytoma 30.3 TP53 S100B MB DES
10 hepatoblastoma 30.3 TP53 MYCN MIR483 IGF2
11 sarcoma, synovial 30.3 S100B MYCN IGF2 DES
12 rhabdoid cancer 30.2 TP53 SHH IGF2 DES
13 basal cell nevus syndrome 30.0 TP53 SHH MYCN
14 atypical teratoid rhabdoid tumor 29.7 TP53 SHH S100B MYCN IGF2 DES
15 neuroblastoma 29.6 TP53 SHH MYCN MIRLET7B MIR125A IGF2
16 medulloblastoma 29.2 TP53 SHH S100B MYCN MIR125A IGF2
17 leukemia, acute lymphoblastic 29.0 U2AF1 TP53 MYCN MIRLET7B MIR708 MIR125A
18 dicer1 tumor predisposition 11.9
19 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 11.8
20 epithelial predominant pulmonary blastoma 11.3
21 pleuropulmonary blastoma type 3 11.3
22 pleuropulmonary blastoma type 1 11.2
23 pleuropulmonary blastoma type 2 11.2
24 embryoma 11.2
25 pneumothorax 10.6
26 tumor predisposition syndrome 10.5
27 cystic adenomatoid malformation of lung 10.5
28 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.5
29 cystic disease of lung 10.5
30 rare tumor 10.5
31 sertoli-leydig cell tumor 10.4
32 medulloepithelioma 10.4
33 cutaneous telangiectasia and cancer syndrome, familial 10.4
34 inherited cancer-predisposing syndrome 10.4
35 well-differentiated fetal adenocarcinoma of the lung 10.4
36 frontal lobe neoplasm 10.4 TP53 MYCN
37 adult teratoma 10.4 TP53 FGFR2
38 pneumothorax, primary spontaneous 10.4
39 chromosomal triplication 10.4
40 clear cell acanthoma 10.3 FGFR2 FGF10
41 pleural empyema 10.3
42 thyroid carcinoma 10.3
43 cerebral primitive neuroectodermal tumor 10.3 S100B MYCN
44 giant cell myocarditis 10.3 MB DES
45 nodular medulloblastoma 10.3 SHH MYCN
46 wilms tumor predisposition 10.3 TP53 IGF2 DICER1
47 cerebellum cancer 10.3 TP53 SHH MYCN
48 dacryocystocele 10.3 FGFR2 FGF10
49 chronic inflammation of lacrimal passage 10.3 FGFR2 FGF10
50 acanthoma 10.3 TP53 FGFR2 FGF10

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



Diseases related to Pleuropulmonary Blastoma

Symptoms & Phenotypes for Pleuropulmonary Blastoma

Human phenotypes related to Pleuropulmonary Blastoma:

31
# Description HPO Frequency HPO Source Accession
1 medulloblastoma 31 very rare (1%) HP:0002885
2 pleuropulmonary blastoma 31 very rare (1%) HP:0100528
3 rhabdomyosarcoma 31 HP:0002859

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
rhabdomyosarcoma
medulloblastoma
associated with other malignancies

Genitourinary Kidneys:
cystic nephroma

Respiratory Lung:
pleuropulmonary blastoma
lung cysts
lung tumor with mesenchymal components

Endocrine Features:
goiter may occur

Clinical features from OMIM®:

601200 (Updated 05-Apr-2021)

UMLS symptoms related to Pleuropulmonary Blastoma:


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

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 DES DICER1 FGF10 FGF9 FGFR2 IGF2
2 craniofacial MP:0005382 10.06 DICER1 FGF10 FGF9 FGFR2 IGF2 MYCN
3 embryo MP:0005380 10.06 DICER1 FGF10 FGF9 FGFR2 IGF2 MB
4 muscle MP:0005369 10.06 DES DICER1 FGF10 FGF9 FGFR2 IGF2
5 digestive/alimentary MP:0005381 9.98 FGF10 FGF9 FGFR2 IGF2 MYCN SHH
6 limbs/digits/tail MP:0005371 9.97 DICER1 FGF10 FGF9 FGFR2 IGF2 MYCN
7 normal MP:0002873 9.86 DICER1 FGF10 FGF9 FGFR2 MYCN S100B
8 renal/urinary system MP:0005367 9.76 DICER1 FGF10 FGF9 FGFR2 IGF2 MYCN
9 reproductive system MP:0005389 9.61 DICER1 FGF10 FGF9 FGFR2 IGF2 MYCN
10 respiratory system MP:0005388 9.28 DICER1 FGF10 FGF9 FGFR2 IGF2 MB

Drugs & Therapeutics for Pleuropulmonary Blastoma

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

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
2
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
3
Pemetrexed Approved, Investigational Phase 3 150399-23-8, 137281-23-3 60843 446556
4
Pembrolizumab Approved Phase 3 1374853-91-4
5
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
6
Gemcitabine Approved Phase 3 95058-81-4 60750
7
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
8
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
9
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
11 Tubulin Modulators Phase 3
12 Anti-Infective Agents Phase 3
13 Immunosuppressive Agents Phase 3
14 Immunologic Factors Phase 3
15 Antimitotic Agents Phase 3
16 Antineoplastic Agents, Immunological Phase 3
17 Vitamin B9 Phase 3
18 Folic Acid Antagonists Phase 3
19 Folate Phase 3
20 Vitamin B Complex Phase 3
21 Vitamins Phase 3
22 Antiviral Agents Phase 3
23 Antimetabolites Phase 3
24
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
25
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
26
Gefitinib Approved, Investigational Phase 1, Phase 2 184475-35-2 123631
27
Osimertinib Approved Phase 1, Phase 2 1421373-65-0 71496458
28
Adenosine Approved, Investigational Phase 2 58-61-7 60961
29
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
30
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
31
Glucosamine Approved, Investigational Phase 2 3416-24-8 439213
32
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
33
Lorvotuzumab mertansine Investigational Phase 2 1008106-64-6
34 Antineoplastic Agents, Hormonal Phase 2
35 Gastrointestinal Agents Phase 2
36 Protein Kinase Inhibitors Phase 1, Phase 2
37 Maytansine Phase 2
38 Ado-trastuzumab emtansine Phase 2
39 Pharmaceutical Solutions Phase 2
40 Immunoglobulins, Intravenous Phase 2
41 Albumin-Bound Paclitaxel Phase 2
42
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
43
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
44
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
45
Sirolimus Approved, Investigational Phase 1 53123-88-9 6436030 5284616
46
Bevacizumab Approved, Investigational Phase 1 216974-75-3
47
Valproic acid Approved, Investigational Phase 1 99-66-1 3121
48
Iodine Approved, Investigational Phase 1 7553-56-2 807
49
Entinostat Investigational Phase 1 209783-80-2
50
Cadexomer iodine Experimental Phase 1 94820-09-4

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Phase III, Randomized, Open-Label, Multi-center Study of SHR-1210(Anti-PD-1 Antibody) in Combination With Pemetrexed and Carboplatin as First Line Therapy in Subjects With Advanced/Metastatic Non-squamous Non-small Cell Lung Cancer Completed NCT03134872 Phase 3 Carboplatin;Pemetrexed
2 A Randomized, Open-Label, Phase 3 Study of Pralsetinib Versus Standard of Care for First Line Treatment of RET Fusion-positive, Metastatic Non-Small Cell Lung Cancer Recruiting NCT04222972 Phase 3 Pralsetinib;Carboplatin;Cisplatin;Pemetrexed;Pembrolizumab;Gemcitabine
3 Randomized Phase III Multicenter Trial of Customized Chemotherapy Versus Standard of Care for1st Line Treatment of Elderly Patients With Advanced Non-Small-Cell Lung Cancer Recruiting NCT03402048 Phase 3 Carboplatin;Gemcitabine;Pemetrexed;Docetaxel;Vinorelbine
4 An Open-label, Single-arm, Multi-center, Phase 2 Study to Evaluate SHR-1210(Anti-PD-1 Antibody) in Patients With Advanced or Metastatic Non-Small Cell Lung Cancer Unknown status NCT03085069 Phase 2
5 Efficacy and Safety of High Dose Regimen of Octreotide LAR in Patients With Neuroendocrine Tumors in Progressive Disease: A Phase II, Open, Multicentric Prospective Study Completed NCT00990535 Phase 2 Octreotide-LAR
6 A Phase 1b/2 Study of AV-299 (Formerly SCH 900105) in Combination With Gefitinib in Asian Subjects With Non-Small Cell Lung Cancer (P06162) Completed NCT01039948 Phase 1, Phase 2 Gefitinib
7 A Phase 1b/2, Open-Label, Multicenter Dose-Escalation and Dose-Expansion Study of the Combination of RMC-4630 and Cobimetinib in Adult Participants With Relapsed/Refractory Solid Tumors and a Phase 1b Study of RMC-4630 With Osimertinib in Participants With EGFR Mutation Positive, Locally Advanced or Metastatic NSCLC Recruiting NCT03989115 Phase 1, Phase 2 RMC-4630;Cobimetinib;Drug: Osimertinib
8 A Phase 1/2 Study of the Highly-selective RET Inhibitor, BLU-667, in Patients With Thyroid Cancer, Non-Small Cell Lung Cancer (NSCLC) and Other Advanced Solid Tumors Recruiting NCT03037385 Phase 1, Phase 2 pralsetinib (BLU-667)
9 Measuring the Effectiveness of a Continuous Positive Airway Pressure (CPAP) Device to Reduce Tumor Motion and Increase Lung Volume Expansion in Patients Undergoing Stereotactic Body Radiotherapy (SBRT) for Tumors That Move With Respiration Recruiting NCT03422302 Phase 1, Phase 2
10 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
11 A Phase II Trial of Atezolizumab Plus Induction Chemotherapy (CT) Plus Chemo-radiotherapy and Atezolizumab Maintenance Therapy in Non-resectable Stage IIIA-IIIB Non-small Cell Lung Cancer (NSCLC) Patients Not yet recruiting NCT04776447 Phase 2 Carboplatin;Placlitaxel;Atezolizumab
12 A Phase 1, Randomized, Open-Label, Continuation Study of Entinostat in Combination With Pembrolizumab in Patients With Advanced Solid Tumors (SNDX-275-0141, MK3475-460/KEYNOTE-460) Unknown status NCT02909452 Phase 1 Entinostat;Pembrolizumab
13 A Phase 1 Cardiac Safety Study of Entinostat in Men and Women With Advanced Solid Tumors Completed NCT02897778 Phase 1 Entinostat
14 A Phase I Trial of Bevacizumab, Temsirolimus Alone and in Combination With Valproic Acid, or Cetuximab in Patients With Advanced Malignancy and Other Indications Recruiting NCT01552434 Phase 1 Temsirolimus;Valproic Acid
15 A Dose Escalation Study to Evaluate Safety, Tolerability Dosimetry, Pharmacokinetics and Preliminary Efficacy of 131I-Tenatumomab Treatment in Tenascin-C Positive Cancer Patients Terminated NCT02602067 Phase 1
16 Investigation of DICER1 in Cystic Nephroma and Cystic Partially Differentiated Nephroblastoma Completed NCT01353300
17 Review of the Paediatric Pleuropulmonary Blastoma French Series Completed NCT03044834
18 Assessment of Probe Based Confocal Laser Endo-microscopy for In-vivo Diagnosis of Peripheral Lung Nodules and Masses. "NODIVEM" Study Completed NCT01931579
19 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
20 DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
21 Follow up of Congenital Lung Anomalies (CLA) With Antenatal Diagnosis - a Swiss Multicentric Database Recruiting NCT03044769
22 A Pilot Study to Evaluate the Diagnostic Performance of Pleural Touch Preparations in Pleuroscopy, a Prospective Study Recruiting NCT03868579
23 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Protocol Active, not recruiting NCT01464606 Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
24 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
25 International Lung Screen Trial Active, not recruiting NCT02871856
26 Alberta Lung Cancer Screening Program Active, not recruiting NCT02431962
27 An External Control, Observational, Retrospective Study Assessing the Effect of Pralsetinib Compared With Best Available Therapy for Patients With RET-Fusion Positive Advanced Non-Small Cell Lung Cancer Enrolling by invitation NCT04697446

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:

# Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma 29

Anatomical Context for Pleuropulmonary Blastoma

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

40
Lung, Fetal Lung, Thyroid, Kidney, Endothelial, Brain, Cervix

Publications for Pleuropulmonary Blastoma

Articles related to Pleuropulmonary Blastoma:

(show top 50) (show all 452)
# Title Authors PMID Year
1
Extending the phenotypes associated with DICER1 mutations. 57 6 61
21882293 2011
2
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. 61 6 57
21266384 2011
3
Germline DICER1 mutations and familial cystic nephroma. 57 6 61
21036787 2010
4
DICER1 mutations in familial pleuropulmonary blastoma. 6 57 61
19556464 2009
5
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma. 61 6
30585947 2020
6
DICER1 mutation-positive giant botryoid fibroepithelial polyp of the urinary bladder mimicking embryonal rhabdomyosarcoma. 6 61
29883781 2019
7
Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings. 6 61
30665929 2019
8
Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not? 6 61
29943907 2018
9
Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review. 61 6
30097050 2018
10
Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations. 6 61
29881993 2018
11
Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. 61 6
29315962 2018
12
DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. 61 6
28960912 2018
13
DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry. 61 6
29037807 2017
14
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. 6 61
28688118 2017
15
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. 6 61
28097783 2017
16
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. 6 61
28624956 2017
17
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. 61 6
27896549 2017
18
Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities. 6 61
27697588 2017
19
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. 61 6
28222777 2017
20
Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome. 6 61
26928971 2016
21
The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. 61 6
26983701 2016
22
Hodgkin lymphoma as a novel presentation of familial DICER1 syndrome. 6 61
26526666 2016
23
DICER1 syndrome can mimic different genetic tumor predispositions. 6 61
26577641 2016
24
Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry. 6 61
26289771 2016
25
DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association. 61 6
26555935 2016
26
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. 6 61
26925222 2015
27
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. 61 6
24909177 2014
28
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. 6 61
25118636 2014
29
DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. 6 61
25451712 2014
30
DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. 61 6
24481001 2014
31
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. 61 6
24839956 2014
32
Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma. 61 6
24617712 2014
33
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. 61 6
24676357 2014
34
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. 61 6
24675358 2014
35
A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report. 61 6
24708902 2014
36
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides. 61 6
24065110 2014
37
DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. 6 61
25356068 2014
38
Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma. 6 61
24513630 2014
39
Novel DICER1 mutation as cause of multinodular goiter in children. 61 6
23728841 2013
40
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. 6 61
23868280 2013
41
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. 6 61
22180160 2012
42
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. 6 61
22187960 2012
43
Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. 6 61
21501861 2011
44
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. 61 6
21205968 2011
45
Pleuropulmonary blastoma: a marker for familial disease. 61 57
8636815 1996
46
Familial cystic nephroma and pleuropulmonary blastoma. 57 61
8382107 1993
47
Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. 6
30597651 2019
48
Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1. 6
30649606 2019
49
Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome. 6
30260442 2019
50
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. 6
30339877 2019

Variations for Pleuropulmonary Blastoma

ClinVar genetic disease variations for Pleuropulmonary Blastoma:

6 (show top 50) (show all 2357)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DICER1 NM_177438.2(DICER1):c.489C>G (p.Tyr163Ter) SNV Pathogenic 220675 rs864622626 GRCh37: 14:95596479-95596479
GRCh38: 14:95130142-95130142
2 DICER1 NM_177438.2(DICER1):c.2236A>G (p.Arg746Gly) SNV Pathogenic 254305 rs886037686 GRCh37: 14:95577674-95577674
GRCh38: 14:95111337-95111337
3 DICER1 NM_177438.2(DICER1):c.832C>T (p.Leu278Phe) SNV Pathogenic 254354 rs768248216 GRCh37: 14:95592988-95592988
GRCh38: 14:95126651-95126651
4 DICER1 NM_177438.2(DICER1):c.2437-2A>G SNV Pathogenic 412146 rs1060503640 GRCh37: 14:95574432-95574432
GRCh38: 14:95108095-95108095
5 DICER1 NM_030621.4(DICER1):c.1706_1710del (p.Ile569fs) Deletion Pathogenic 412198 rs1060503665 GRCh37: 14:95582832-95582836
GRCh38: 14:95116495-95116499
6 DICER1 NM_030621.4(DICER1):c.4130del (p.Pro1377fs) Deletion Pathogenic 412050 rs34678453 GRCh37: 14:95566193-95566193
GRCh38: 14:95099856-95099856
7 DICER1 NM_030621.4(DICER1):c.1747del (p.Glu583fs) Deletion Pathogenic 412131 rs1060503633 GRCh37: 14:95582795-95582795
GRCh38: 14:95116458-95116458
8 DICER1 NM_030621.4(DICER1):c.1767del (p.Lys589fs) Deletion Pathogenic 412191 rs1060503662 GRCh37: 14:95582144-95582144
GRCh38: 14:95115807-95115807
9 DICER1 NM_030621.4(DICER1):c.2953del (p.Gln985fs) Deletion Pathogenic 412122 rs1060503627 GRCh37: 14:95572412-95572412
GRCh38: 14:95106075-95106075
10 DICER1 NM_177438.2(DICER1):c.3349G>T (p.Glu1117Ter) SNV Pathogenic 412104 rs1060503617 GRCh37: 14:95570384-95570384
GRCh38: 14:95104047-95104047
11 DICER1 NM_177438.2(DICER1):c.5494C>T (p.Gln1832Ter) SNV Pathogenic 412037 rs1060503583 GRCh37: 14:95557573-95557573
GRCh38: 14:95091236-95091236
12 DICER1 NM_030621.4(DICER1):c.2507_2508del (p.Phe836fs) Deletion Pathogenic 412123 rs1060503628 GRCh37: 14:95574359-95574360
GRCh38: 14:95108022-95108023
13 DICER1 NM_030621.4(DICER1):c.459dup (p.Val154fs) Duplication Pathogenic 477209 rs1555375978 GRCh37: 14:95596508-95596509
GRCh38: 14:95130171-95130172
14 DICER1 NM_177438.2(DICER1):c.901C>T (p.Gln301Ter) SNV Pathogenic 477292 rs781144010 GRCh37: 14:95592919-95592919
GRCh38: 14:95126582-95126582
15 DICER1 NM_030621.4(DICER1):c.1137del (p.Lys379fs) Deletion Pathogenic 477023 rs1555374734 GRCh37: 14:95590772-95590772
GRCh38: 14:95124435-95124435
16 DICER1 NM_001195573.1(DICER1):c.5365-142del Deletion Pathogenic 477261 rs1555366197 GRCh37: 14:95557588-95557588
GRCh38: 14:95091251-95091251
17 DICER1 NM_030621.4(DICER1):c.256del (p.Arg86fs) Deletion Pathogenic 477107 rs1555376375 GRCh37: 14:95598903-95598903
GRCh38: 14:95132566-95132566
18 DICER1 NM_177438.2(DICER1):c.823G>T (p.Glu275Ter) SNV Pathogenic 477290 rs1555375333 GRCh37: 14:95592997-95592997
GRCh38: 14:95126660-95126660
19 DICER1 NM_177438.2(DICER1):c.4638C>A (p.Tyr1546Ter) SNV Pathogenic 477210 rs773822569 GRCh37: 14:95562619-95562619
GRCh38: 14:95096282-95096282
20 DICER1 NM_030621.4(DICER1):c.1694del (p.Asp565fs) Deletion Pathogenic 477053 rs1555372851 GRCh37: 14:95582848-95582848
GRCh38: 14:95116511-95116511
21 DICER1 NM_030621.4(DICER1):c.1417del (p.Tyr473fs) Deletion Pathogenic 477039 rs1555373228 GRCh37: 14:95584051-95584051
GRCh38: 14:95117714-95117714
22 DICER1 NM_177438.2(DICER1):c.1029dup (p.Phe344fs) Duplication Pathogenic 477022 rs1555374772 GRCh37: 14:95590879-95590880
GRCh38: 14:95124542-95124543
23 DICER1 NM_030621.4(DICER1):c.535del (p.Ala180fs) Deletion Pathogenic 477257 rs1555375946 GRCh37: 14:95596433-95596433
GRCh38: 14:95130096-95130096
24 DICER1 NM_030621.4(DICER1):c.2197_2198GA[3] (p.Thr734fs) Microsatellite Pathogenic 477091 rs1555371596 GRCh37: 14:95577709-95577710
GRCh38: 14:95111372-95111373
25 DICER1 NM_030621.4(DICER1):c.282_283dup (p.Arg95fs) Duplication Pathogenic 477120 rs1555376368 GRCh37: 14:95598875-95598876
GRCh38: 14:95132538-95132539
26 DICER1 NM_030621.4(DICER1):c.757dup (p.Ile253fs) Duplication Pathogenic 543554 rs1555375356 GRCh37: 14:95593062-95593063
GRCh38: 14:95126725-95126726
27 DICER1 NM_177438.2(DICER1):c.100C>T (p.Gln34Ter) SNV Pathogenic 543565 rs1555376548 GRCh37: 14:95599696-95599696
GRCh38: 14:95133359-95133359
28 DICER1 NM_030621.4(DICER1):c.4212del (p.Asp1405fs) Deletion Pathogenic 543615 rs1555367927 GRCh37: 14:95563045-95563045
GRCh38: 14:95096708-95096708
29 DICER1 NM_030621.4(DICER1):c.947G>A (p.Trp316Ter) SNV Pathogenic 543605 rs1555374839 GRCh37: 14:95590962-95590962
GRCh38: 14:95124625-95124625
30 DICER1 NM_030621.4(DICER1):c.2955delinsTT (p.Gln985fs) Indel Pathogenic 543648 rs1555370268 GRCh37: 14:95572410-95572410
GRCh38: 14:95106073-95106073
31 DICER1 NM_030621.4(DICER1):c.2370_2373dup (p.Leu792fs) Duplication Pathogenic 543649 rs1555370915 GRCh37: 14:95574723-95574724
GRCh38: 14:95108386-95108387
32 DICER1 NM_030621.4(DICER1):c.4762del (p.Gly1587_Leu1588insTer) Deletion Pathogenic 570976 rs1566754840 GRCh37: 14:95562495-95562495
GRCh38: 14:95096158-95096158
33 DICER1 NM_177438.2(DICER1):c.2988-1G>T SNV Pathogenic 429116 rs1131691192 GRCh37: 14:95572121-95572121
GRCh38: 14:95105784-95105784
34 DICER1 NM_177438.2(DICER1):c.1376+1G>A SNV Pathogenic 573393 rs886037670 GRCh37: 14:95590532-95590532
GRCh38: 14:95124195-95124195
35 DICER1 NM_177438.2(DICER1):c.1847T>A (p.Leu616Ter) SNV Pathogenic 574836 rs771634025 GRCh37: 14:95582064-95582064
GRCh38: 14:95115727-95115727
36 DICER1 NM_177438.2(DICER1):c.3688C>T (p.Gln1230Ter) SNV Pathogenic 576876 rs1566767799 GRCh37: 14:95570045-95570045
GRCh38: 14:95103708-95103708
37 DICER1 NM_030621.4(DICER1):c.3957dup (p.Asp1320fs) Duplication Pathogenic 575211 rs1566766788 GRCh37: 14:95569775-95569776
GRCh38: 14:95103438-95103439
38 DICER1 NM_030621.4(DICER1):c.5261_5364+79del Deletion Pathogenic 580813 rs1566749829 GRCh37: 14:95560146-95560328
GRCh38: 14:95093809-95093991
39 DICER1 NM_177438.2(DICER1):c.1501C>T (p.Gln501Ter) SNV Pathogenic 643405 rs1595414962 GRCh37: 14:95583967-95583967
GRCh38: 14:95117630-95117630
40 DICER1 NM_177438.2(DICER1):c.4031C>G (p.Ser1344Ter) SNV Pathogenic 582884 rs1566766572 GRCh37: 14:95569702-95569702
GRCh38: 14:95103365-95103365
41 DICER1 NM_030621.4(DICER1):c.3909_3910del (p.Ser1304fs) Deletion Pathogenic 652078 rs1595364159 GRCh37: 14:95569823-95569824
GRCh38: 14:95103486-95103487
42 DICER1 NM_030621.4(DICER1):c.238G>T (p.Glu80Ter) SNV Pathogenic 649946 rs1595466234 GRCh37: 14:95598921-95598921
GRCh38: 14:95132584-95132584
43 DICER1 NC_000014.9:g.(?_95090488)_(95133468_?)del Deletion Pathogenic 655753 GRCh37: 14:95556825-95599805
GRCh38: 14:95090488-95133468
44 DICER1 NM_177438.2(DICER1):c.3591C>A (p.Cys1197Ter) SNV Pathogenic 576410 rs1566768212 GRCh37: 14:95570142-95570142
GRCh38: 14:95103805-95103805
45 DICER1 NM_030621.4(DICER1):c.1280_1283del (p.Lys427fs) Deletion Pathogenic 658250 rs1595438347 GRCh37: 14:95590626-95590629
GRCh38: 14:95124289-95124292
46 DICER1 NM_177438.2(DICER1):c.2988-20_2988del Deletion Pathogenic 660444 rs1595372924 GRCh37: 14:95572120-95572140
GRCh38: 14:95105783-95105803
47 DICER1 NM_030621.4(DICER1):c.3402del (p.Gln1135fs) Deletion Pathogenic 663671 rs1595367266 GRCh37: 14:95570331-95570331
GRCh38: 14:95103994-95103994
48 DICER1 NM_177438.2(DICER1):c.2018C>G (p.Ser673Ter) SNV Pathogenic 663618 rs1595396643 GRCh37: 14:95579451-95579451
GRCh38: 14:95113114-95113114
49 DICER1 NM_177438.3(DICER1):c.5234_5235del (p.Phe1745fs) Deletion Pathogenic 841359 GRCh37: 14:95560354-95560355
GRCh38: 14:95094017-95094018
50 DICER1 NM_177438.3(DICER1):c.2437-1G>A SNV Pathogenic 841517 GRCh37: 14:95574431-95574431
GRCh38: 14:95108094-95108094

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

72
# Symbol AA change Variation ID SNP ID
1 DICER1 p.Leu1583Arg VAR_063150 rs137852976

Expression for Pleuropulmonary Blastoma

Search GEO for disease gene expression data for Pleuropulmonary Blastoma.

Pathways for Pleuropulmonary Blastoma

GO Terms for Pleuropulmonary Blastoma

Cellular components related to Pleuropulmonary Blastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 SHH S100B MIRLET7B MIRLET7A1 MIR125B1 MIR125A
2 RISC complex GO:0016442 9.26 TARBP2 DICER1
3 extracellular vesicle GO:1903561 9.26 MIRLET7B MIRLET7A1 MIR125B1 MIR125A
4 RISC-loading complex GO:0070578 9.16 TARBP2 DICER1

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 10.08 MIRLET7B MIRLET7A1 MIR708 MIR483 MIR125B1 MIR125A
2 positive regulation of cell proliferation GO:0008284 10.04 SHH S100B IGF2 FGFR2 FGF9 FGF10
3 positive regulation of gene expression GO:0010628 10.02 TP53 SHH MYCN MIR125A FGF9 FGF10
4 cell-cell signaling GO:0007267 9.99 SHH FGFR2 FGF9 FGF10
5 positive regulation of protein phosphorylation GO:0001934 9.97 MIR125B1 IGF2 FGF9 FGF10
6 positive regulation of protein kinase B signaling GO:0051897 9.93 IGF2 FGFR2 FGF9 FGF10
7 animal organ morphogenesis GO:0009887 9.93 IGF2 FGFR2 FGF9 FGF10
8 miRNA mediated inhibition of translation GO:0035278 9.88 MIRLET7A1 MIR483 MIR125B1
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.88 TP53 IGF2 FGF10
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.87 FGFR2 FGF9 FGF10
11 negative regulation of tumor necrosis factor production GO:0032720 9.86 MIR708 MIR125B1 DICER1
12 positive regulation of MAPK cascade GO:0043410 9.86 IGF2 FGFR2 FGF9 FGF10
13 positive regulation of epithelial cell proliferation GO:0050679 9.85 FGFR2 FGF9 FGF10
14 embryonic organ development GO:0048568 9.79 TP53 SHH FGFR2
15 positive regulation of Wnt signaling pathway GO:0030177 9.78 SHH FGFR2 FGF10
16 lung development GO:0030324 9.73 SHH FGFR2 FGF9 FGF10
17 negative regulation of keratinocyte proliferation GO:0010839 9.71 MIR125B1 FGFR2
18 production of miRNAs involved in gene silencing by miRNA GO:0035196 9.71 TARBP2 DICER1
19 miRNA metabolic process GO:0010586 9.71 TARBP2 DICER1
20 hair follicle morphogenesis GO:0031069 9.71 SHH FGFR2 FGF10
21 pre-miRNA processing GO:0031054 9.7 TARBP2 DICER1
22 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.7 TP53 MYCN
23 organ growth GO:0035265 9.7 FGFR2 FGF10
24 embryonic pattern specification GO:0009880 9.7 SHH FGFR2 FGF10
25 production of siRNA involved in RNA interference GO:0030422 9.69 TARBP2 DICER1
26 negative regulation of STAT cascade GO:1904893 9.68 MIR125B1 MIR125A
27 lung epithelium development GO:0060428 9.68 SHH FGF10
28 lung lobe morphogenesis GO:0060463 9.67 SHH FGFR2
29 bud elongation involved in lung branching GO:0060449 9.67 FGFR2 FGF10
30 epidermis morphogenesis GO:0048730 9.66 FGFR2 FGF10
31 miRNA loading onto RISC involved in gene silencing by miRNA GO:0035280 9.66 TARBP2 DICER1
32 lacrimal gland development GO:0032808 9.65 FGFR2 FGF10
33 otic vesicle formation GO:0030916 9.65 FGFR2 FGF10
34 lung-associated mesenchyme development GO:0060484 9.65 SHH FGFR2
35 branching involved in prostate gland morphogenesis GO:0060442 9.64 SHH FGFR2
36 animal organ formation GO:0048645 9.64 SHH FGF10
37 negative regulation of gene expression GO:0010629 9.63 TP53 SHH MYCN MIR708 MIR125A DICER1
38 siRNA loading onto RISC involved in RNA interference GO:0035087 9.62 TARBP2 DICER1
39 targeting of mRNA for destruction involved in RNA interference GO:0030423 9.62 TARBP2 DICER1
40 mesenchymal cell proliferation involved in lung development GO:0060916 9.59 SHH FGFR2
41 prostate epithelial cord elongation GO:0060523 9.58 SHH FGFR2
42 bud outgrowth involved in lung branching GO:0060447 9.58 SHH FGF10
43 embryonic digestive tract morphogenesis GO:0048557 9.58 SHH FGFR2 FGF10
44 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 9.54 MIRLET7A1 MIR125B1 MIR125A
45 mesenchymal cell differentiation involved in lung development GO:0060915 9.51 FGFR2 FGF10
46 branching involved in salivary gland morphogenesis GO:0060445 9.5 SHH FGFR2 FGF10
47 branch elongation involved in salivary gland morphogenesis GO:0060667 9.49 FGFR2 FGF10
48 mammary gland bud formation GO:0060615 9.48 FGFR2 FGF10
49 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.46 FGFR2 FGF10
50 limb bud formation GO:0060174 9.43 SHH FGFR2 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 siRNA binding GO:0035197 9.16 TARBP2 DICER1
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIRLET7B MIRLET7A1 MIR708 MIR483 MIR125B1 MIR125A
3 pre-miRNA binding GO:0070883 8.96 TARBP2 DICER1

Sources for Pleuropulmonary Blastoma

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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