MCID: THY107
MIFTS: 52

Thymoma, Familial

Categories: Cancer diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thymoma, Familial

MalaCards integrated aliases for Thymoma, Familial:

Name: Thymoma, Familial 56 71
Thymoma 58 71
Primary Thymic Epithelial Neoplasm 58
Primary Thymic Epithelial Tumor 58
Thymic Neoplasia 56
Thymus Neoplasms 71

Characteristics:

Orphanet epidemiological data:

58
thymoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
somatic mutation


HPO:

31
thymoma, familial:
Inheritance autosomal recessive inheritance somatic mutation


Classifications:



External Ids:

OMIM 56 274230
MESH via Orphanet 44 D013945
ICD10 via Orphanet 33 D15.0 D38.4
UMLS via Orphanet 72 C0040100
Orphanet 58 ORPHA99867
MedGen 41 C1848814
UMLS 71 C0040100 C1848814 C3714644

Summaries for Thymoma, Familial

OMIM : 56 Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare. (274230)

MalaCards based summary : Thymoma, Familial, also known as thymoma, is related to seminoma and carcinosarcoma. An important gene associated with Thymoma, Familial is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Phospholipase D signaling pathway and Kit receptor signaling pathway. The drugs Tacrolimus and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include thymus, t cells and lung, and related phenotypes are arthritis and fatigue

Related Diseases for Thymoma, Familial

Diseases in the Thymoma family:

Thymoma, Familial Invasive Malignant Thymoma
Type C Thymoma Malignant Type Ab Thymoma
Malignant Type a Thymoma Thymoma Type a
Thymoma Type B Thymoma Type Ab

Diseases related to Thymoma, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 703)
# Related Disease Score Top Affiliating Genes
1 seminoma 29.9 KIT HRAS
2 carcinosarcoma 29.3 KIT HRAS
3 keratosis 29.3 KIT HRAS
4 exanthem 29.1 KIT HRAS
5 colorectal adenocarcinoma 29.0 KIT HRAS
6 myelofibrosis 29.0 KIT HRAS
7 bladder urothelial carcinoma 28.7 KIT HRAS
8 wilms tumor 1 28.6 KIT HRAS
9 thymoma 28.5 THM KIT HRAS
10 type c thymoma 12.6
11 cortical thymoma 12.4
12 epithelial malignant thymoma 12.4
13 predominantly cortical thymoma 12.4
14 invasive malignant thymoma 12.4
15 mixed type thymoma 12.4
16 dendritic cell thymoma 12.4
17 encapsulated thymoma 12.3
18 thymoma type ab 12.3
19 combined thymoma 12.3
20 thymoma type a 12.3
21 thymoma type b 12.3
22 good syndrome 12.2
23 malignant type ab thymoma 12.2
24 noninvasive malignant thymoma 12.2
25 malignant type a thymoma 12.2
26 acquired pure red cell aplasia 11.7
27 pure red-cell aplasia 11.6
28 morvan's fibrillary chorea 11.5
29 thymic epithelial tumor 11.5
30 thymus cancer 11.2
31 limbic encephalitis with lgi1 antibodies 11.2
32 red cell aplasia 10.8
33 virus-associated trichodysplasia spinulosa 10.5
34 polymyositis 10.5
35 rare tumor 10.5
36 encephalitis 10.5
37 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.5
38 deficiency anemia 10.5
39 paraneoplastic syndromes 10.5
40 immune deficiency disease 10.5
41 lymphoma 10.5
42 myositis 10.4
43 aplastic anemia 10.4
44 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.4
45 ptosis 10.4
46 myocarditis 10.4
47 candidiasis 10.4
48 lupus erythematosus 10.4
49 nephrotic syndrome 10.4
50 lichen planus 10.4

Graphical network of the top 20 diseases related to Thymoma, Familial:



Diseases related to Thymoma, Familial

Symptoms & Phenotypes for Thymoma, Familial

Human phenotypes related to Thymoma, Familial:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthritis 58 Occasional (29-5%)
2 fatigue 58 Frequent (79-30%)
3 dysphagia 58 Frequent (79-30%)
4 dyspnea 58 Frequent (79-30%)
5 skin rash 58 Occasional (29-5%)
6 abnormality of the pleura 58 Occasional (29-5%)
7 xerostomia 58 Occasional (29-5%)
8 pericarditis 58 Occasional (29-5%)
9 cough 58 Frequent (79-30%)
10 myositis 58 Occasional (29-5%)
11 chest pain 58 Frequent (79-30%)
12 ptosis 58 Frequent (79-30%)
13 alopecia 58 Occasional (29-5%)
14 thyroiditis 58 Occasional (29-5%)
15 respiratory insufficiency 31 HP:0002093
16 decreased antibody level in blood 58 Occasional (29-5%)
17 hemolytic anemia 58 Occasional (29-5%)
18 nephrotic syndrome 58 Occasional (29-5%)
19 neoplasm 31 HP:0002664
20 myocarditis 58 Occasional (29-5%)
21 limitation of joint mobility 58 Occasional (29-5%)
22 keratoconjunctivitis sicca 58 Occasional (29-5%)
23 lymphadenopathy 58 Frequent (79-30%)
24 abnormality of the peritoneum 58 Occasional (29-5%)
25 diplopia 58 Frequent (79-30%)
26 neoplasm of the thymus 58 Very frequent (99-80%)
27 pancytopenia 58 Occasional (29-5%)
28 interstitial pulmonary abnormality 58 Frequent (79-30%)
29 abnormality of the mediastinum 58 Very frequent (99-80%)
30 fatigable weakness 58 Frequent (79-30%)
31 thymoma 31 HP:0100522
32 abnormality of lymphocytes 58 Very frequent (99-80%)
33 b lymphocytopenia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency

Neoplasia:
thymoma

Immunology:
thymoma

Clinical features from OMIM:

274230

Drugs & Therapeutics for Thymoma, Familial

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

(show top 50) (show all 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
Azathioprine Approved Phase 4 446-86-6 2265
4 Calcineurin Inhibitors Phase 4
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
6
Etoposide Approved Phase 3 33419-42-0 36462
7
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
8
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
9
Bevacizumab Approved, Investigational Phase 3 216974-75-3
10
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
11 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
12 Cola Phase 3
13 Analgesics Phase 3
14 Liver Extracts Phase 3
15 Anesthetics Phase 3
16 Narcotics Phase 3
17 Anesthetics, General Phase 3
18 Analgesics, Opioid Phase 3
19 Anesthetics, Intravenous Phase 3
20 Etoposide phosphate Phase 3
21 Albumin-Bound Paclitaxel Phase 3
22 Tubulin Modulators Phase 3
23 Antimitotic Agents Phase 3
24 Antineoplastic Agents, Immunological Phase 3
25 Immunologic Factors Phase 3
26 Angiogenesis Inhibitors Phase 3
27 Immunoglobulins Phase 3
28 Antibodies Phase 3
29 Immunoglobulins, Intravenous Phase 3
30 Antibodies, Monoclonal Phase 3
31
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
32
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
33
Pasireotide Approved Phase 2 396091-73-9 9941444
34
Melphalan Approved Phase 2 148-82-3 460612 4053
35
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
36
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Busulfan Approved, Investigational Phase 2 55-98-1 2478
39
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
40
Curcumin Approved, Experimental, Investigational Phase 2 458-37-7 969516
41
Turmeric Approved, Experimental, Investigational Phase 2
42
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
43
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
44
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
45
Sodium citrate Approved, Investigational Phase 2 68-04-2
46
Tamoxifen Approved Phase 2 10540-29-1 2733526
47
Megestrol acetate Approved, Investigational, Vet_approved Phase 2 595-33-5 11683
48
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
49
nivolumab Approved Phase 2 946414-94-4
50
Nedaplatin Approved, Investigational Phase 2 95734-82-0

Interventional clinical trials:

(show top 50) (show all 151)
# Name Status NCT ID Phase Drugs
1 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03540472 Phase 4 tacrolimus
2 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03364764 Phase 4 Sirolimus
3 Comparison of Two Tapering Strategies of Prednisone in Patients With Generalised Myasthenia Gravis Treated With Prednisone and Azathioprine: a Single-blind Randomised Controlled Multicenter Study Completed NCT00987116 Phase 4 Prednisone - Azathioprine
4 A Multi-Center, Single-Blind, Randomized Study Comparing Thymectomy to No Thymectomy in Non-Thymomatous Myasthenia Gravis (MG) Patients Receiving Prednisone Completed NCT00294658 Phase 3 prednisone alone
5 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
6 A Multi-institutional, Randomized Controlled Trial of Postoperative Conformal Radiotherapy for Stage II-III B Type Thymoma Recruiting NCT02014805 Phase 3
7 An Open-label, Multi-center, Randomized Phase III Study of Adjuvant Radiotherapy for Stage II/III Thymoma After Complete Resection Recruiting NCT02633553 Phase 3
8 A Randomized Phase III Study of Adjuvant Radiotherapy Versus Adjuvant Radiochemotherapy in Patients With Incomplete ResectionThymoma or Thymic Carcinoma Recruiting NCT02633514 Phase 3 Cisplatin;Etoposide
9 Postoperative Pain and Quality of Life for Patients Undergoing Mediastinal Tumor Resection by Subxiphoid and Intercostal VATS:A Randomized Controlled Trial Recruiting NCT03521986 Phase 3
10 A Randomized Phase III Double-Blind Placebo-Controlled Trial of First-Line Chemotherapy and Trastuzumab With or Without Bevacizumab for Patients With HER-2/NEU Over-Expressing Metastatic Breast Cancer Terminated NCT00520975 Phase 3 Carboplatin;Paclitaxel
11 Phase II Study of Everolimus in Patients With Thymoma and Thymic Carcinoma Previously Treated With Chemotherapy Unknown status NCT02049047 Phase 2 Everolimus
12 An Open-label Phase II Study of Regorafenib in Patients With Metastatic Solid Tumors Who Have Progressed After Standard Therapy - RESOUND Unknown status NCT02307500 Phase 2 Regorafenib
13 A Phase II Study of Pembrolizumab for Patients With Thymic Epithelial Tumor Who Progressed After at Least One Previous Regimen of Cisplatin-Containing Chemotherapy Unknown status NCT02607631 Phase 2 Pembrolizumab
14 Efficacy of Medical Treatment With Octreotide in Patients With Primary Inoperable Thymoma to Reduce Tumor Size Completed NCT00332969 Phase 2 Octreotide
15 Efficacy of Medical Treatment With SOM230 LAR in Patients With Primary Inoperable Thymoma and/or With Local Recurrent Thymoma to Reduce Tumor Size Completed NCT02021942 Phase 2 SOM230 LAR
16 Phase II Study of Alimta (Pemetrexed) Treatment of Advanced Thymoma and Thymic Carcinoma Completed NCT00198133 Phase 2 Premetrexed (Alimta)
17 Phase II Study of Octreotide Treatment of Advanced, Recurrent Thymoma Completed NCT00003283 Phase 2 octreotide acetate;prednisone
18 A Phase II Study of Amrubicin in Relapsed or Refractory Thymic Malignancies Completed NCT01364727 Phase 2 Amrubicin
19 Phase II Study Of Carboplatin Plus Paclitaxel Treatment Of Advanced Thymoma Or Thymic Carcinoma Completed NCT00010257 Phase 2 carboplatin;paclitaxel
20 Phase II Study of Trimodality Therapy for Patients With Thymoma or Thymic Carcinoma at Significant Risk for Recurrence Completed NCT00387868 Phase 2 cisplatin and etoposide
21 Radiofrequency Ablation of Pulmonary Malignancy Completed NCT00024076 Phase 2
22 A Phase II Study of Erlotinib Plus Bevacizumab in the Treatment of Advanced Thymoma and Thymic Carcinoma Completed NCT00369889 Phase 2 bevacizumab;Erlotinib
23 Multicenter Phase II Study of IMC-A12 in Patients With Thymoma and Thymic Carcinoma Who Have Been Previously Treated With Chemotherapy Completed NCT00965250 Phase 2 IMC-12
24 A Phase II Study of LEE011 (Ribociclib) in Patients With Advanced Neuroendocrine Tumors of Foregut Origin Completed NCT02420691 Phase 2 Ribociclib
25 A Multicenter Phase II Study of Belinostat (PXD-101) in Previously Chemotherapy Treated Thymoma and Thymic Carcinoma Completed NCT00589290 Phase 2 Belinostat (PDX101)
26 A Prospective, Phase II Trial of Induction Chemotherapy With Docetaxel/Cisplatin for Masaoka Stage III/IV Thymic Epithelial Tumors Completed NCT01312324 Phase 2 neoadjuvant docetaxel/cisplatin
27 Surgical Cytoreduction Followed by Intraoperative Intrathoracic Hyperthermic Chemotherapy Perfusion for the Management of Disseminated Pleural Malignancies Completed NCT01163552 Phase 2
28 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Adults and Children With Bone Marrow Failure Syndromes or Inherited Metabolic or Hematologic Diseases Completed NCT00003662 Phase 2 busulfan;cyclophosphamide;cyclosporine;melphalan;methylprednisolone
29 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
30 A Phase II, Non-comparative, Open Label, Multi-center Study of Sunitinib in Patients With Metastatic or Recurrent Thymic Carcinoma Completed NCT02623127 Phase 2 Sunitinib
31 A Phase II Study of MK-2206 in Patients With Progressive, Recurrent/Metastatic Adenoid Cystic Carcinoma Completed NCT01604772 Phase 2 Akt Inhibitor MK2206
32 Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP) Completed NCT00641147 Phase 2 Curcumin
33 Phase II Trial of AKT Inhibitor MK2206 in Patients With Advanced Breast Cancer Who Have Tumors With a PIK3CA Mutation, or an AKT Mutation, and/or PTEN Loss/PTEN Mutation Completed NCT01277757 Phase 2 Akt Inhibitor MK2206
34 Phase II Study of MK-2206 in Patients With Relapsed Lymphoma Completed NCT01258998 Phase 2 Akt inhibitor MK2206
35 A Phase II Evaluation of Gleevec(TM) (NCI-Supplied Agent: STI571 [Imatinib Mesylate], NSC# 716051) in the Treatment of Recurrent or Persistent Carcinosarcoma of the Uterus Completed NCT00075400 Phase 2 imatinib mesylate
36 A Phase II Trial of Cabozantinib (XL-184) (NSC #761968) in Women With Recurrent, Clear Cell Carcinoma of the Ovary, Fallopian Tube, or Peritoneum Completed NCT02315430 Phase 2 Cabozantinib S-malate
37 A Phase 2 Study of MK-2206 in Previously Treated Metastatic Colorectal Cancer Patients Enriched for PTEN Loss and PIK3CA Mutation Completed NCT01802320 Phase 2 Akt Inhibitor MK2206
38 A Single Arm, Phase II Study of Single Agent Trametinib Followed by Trametinib in Combination With GSK2141795 in Patients With Advanced Triple Negative Breast Cancer Completed NCT01964924 Phase 2 Akt Inhibitor GSK2141795;Trametinib
39 A Phase II Evaluation of Brivanib (BMS582664), an Oral, Multitargeted Growth Factor Tyrosine Kinase Inhibitor in the Treatment of Recurrent or Persistent Endometrial Carcinoma Completed NCT00888173 Phase 2 Brivanib Alaninate
40 Phase II Study of Cabozantinib in Patients With Radioiodine-Refractory Differentiated Thyroid Cancer Who Progressed on Prior VEGFR-Targeted Therapy Completed NCT01811212 Phase 2 Cabozantinib S-malate
41 Phase I/II Study of the Combination of Bendamustine, Rituximab and MK-2206 in the Treatment of Relapsed Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma Completed NCT01369849 Phase 1, Phase 2 Akt Inhibitor MK2206;Bendamustine Hydrochloride
42 Randomized Phase II Trial of Temozolomide Versus Hyd-Sulfate AZD6244 [NSC 748727] in Patients With Metastatic Uveal Melanoma Completed NCT01143402 Phase 2 Dacarbazine;Selumetinib;Temozolomide
43 A Pilot Study of Unrelated Umbilical Cord Blood Transplantation in Patients With Severe Aplastic Anemia, Inborn Errors in Metabolism, or Inherited Hematologic Stem Cell Disorders Completed NCT00003336 Phase 2 busulfan;cyclophosphamide;melphalan;methylprednisolone
44 A Randomized Phase II Trial of Temsirolimus (NCI-Supplied Agent, NSC # 683864) or the Combination of Hormonal Therapy Plus Temsirolimus in Women With Advanced, Persistent, or Recurrent Endometrial Carcinoma Completed NCT00729586 Phase 2 Megestrol Acetate;Tamoxifen Citrate;Temsirolimus
45 A Phase I/II Trial of BAY 43-9006 in Combination With Bevacizumab in Patients With Advanced Renal Cancer Completed NCT00126503 Phase 1, Phase 2 Sorafenib Tosylate
46 Single-arm, Multicentre, Phase II Study of Immunotherapy in Patients With Type B3 Thymoma and Thymic Carcinoma Previously Treated With Chemotherapy Recruiting NCT03134118 Phase 2 Nivolumab
47 A Prospective, Phase Ⅱ Study of Thymosin a1 During Chemoradiotherapy For Unresectable Thymoma and Thymic Carcinoma Recruiting NCT03663764 Phase 2 Thymosin a1
48 Phase II Trial of Sunitinib in Patients With Type B3 Thymoma or Thymic Carcinoma in Second and Further Lines (Style Trial) Recruiting NCT03449173 Phase 2 Sunitinib
49 A Phase II Study of Selinexor (KPT-330) in Patients With Advanced Thymic Epithelial Tumour (TET) Progressing After Primary Chemotherapy. Recruiting NCT03466827 Phase 2 Selinexor
50 A Phase 2, Open-label Study of Selinexor (KPT-330) in Patients With Advanced Thymic Epithelial Tumor (TET) Progressing After Primary Chemotherapy (SELECT) Recruiting NCT03193437 Phase 2 Open Label Selinexor

Search NIH Clinical Center for Thymoma, Familial

Genetic Tests for Thymoma, Familial

Anatomical Context for Thymoma, Familial

MalaCards organs/tissues related to Thymoma, Familial:

40
Thymus, T Cells, Lung, B Cells, Thyroid, Breast, Bone

Publications for Thymoma, Familial

Articles related to Thymoma, Familial:

(show top 50) (show all 7964)
# Title Authors PMID Year
1
Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3). 56 61
15942943 2005
2
Thymic neoplasia in two male siblings. 61 56
7121071 1982
3
Familial occurrence of thymoma. 56 61
4683164 1973
4
A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors. 56
24974848 2014
5
PATHOLOGY AND CLINICAL BEHAVIOR OF THYMOMAS. A SURVEY OF 51 CASES. 56
14332543 1965
6
Investigation of GHSR methylation levels in thymomas from patients with Myasthenia Gravis. 61
32442579 2020
7
High Neutrophil Count as a Negative Prognostic Factor for Relapse in Patients with Thymic Epithelial Tumor. 61
31993857 2020
8
Contactin-1 autoimmunity: Serologic, neurologic, and pathologic correlates. 61
32461352 2020
9
A tale of autoimmunity: thymoma, thymectomy, and systemic lupus erythematosus. 61
32277368 2020
10
Immune Checkpoint Inhibitor-induced Fatal Myositis in a Patient With Squamous Cell Carcinoma and a History of Thymoma. 61
32081528 2020
11
A systematic review of paraneoplastic syndromes associated with thymoma: Treatment modalities, recurrence, and outcomes in resected cases. 61
31982129 2020
12
Commentary: Dangerous liaisons-Paraneoplastic syndromes and thymoma. 61
32067787 2020
13
Bronchogenic cysts mimicking thymoma in the anterior mediastinum. 61
32405416 2020
14
Image-based ex vivo drug screen to assess targeted therapies in recurrent thymoma. 61
32388277 2020
15
Commentary: Toward a better understanding of the natural history of surgically treated thymoma associated with paraneoplastic syndromes. 61
31992460 2020
16
Risk Factors for the Exacerbation of Myasthenic Symptoms After Surgical Therapy for Myasthenia Gravis and Thymoma. 61
31518701 2020
17
LncRNA XLOC_003810 promotes T cell activation and inhibits PD-1/PD-L1 expression in patients with myasthenia gravis-related thymoma. 61
32243615 2020
18
Exploring outcomes and characteristics of myasthenia gravis: Rationale, aims and design of registry - The EXPLORE-MG registry. 61
32388060 2020
19
Programmed death-ligand 1 expression profiling in thymic epithelial cell tumors: Clinicopathological features and quantitative digital image analyses. 61
32402921 2020
20
Anti-gamma-aminobutyric acid receptor type A encephalitis: a review. 61
32374573 2020
21
Is mediastinoscopy an effective diagnostic method in mediastinal area evaluation in pediatric patients? 61
31668417 2020
22
[Ileum and brain, unusual metastatic sites for a thymoma]. 61
32482379 2020
23
Digestive involvement in a patient with Lambert-Eaton syndrome. 61
32496121 2020
24
[Thymoma Presenting Synchronously with a Mycosis Fungoides;Report of a Case]. 61
32475975 2020
25
Immunosuppression therapy is effective for both acquired tumor-associated and primary pure red cell aplasia: a match pair case-control study. 61
32488602 2020
26
Volumetric modulated arc therapy versus intensity-modulated proton therapy in the postoperative irradiation of thymoma. 61
32514629 2020
27
Case of primary thymic papillary adenocarcinoma associated with type AB thymoma and thymic cysts. 61
32180299 2020
28
Good syndrome with cytomegalovirus hepatitis: successful resection of Thymoma: a case report. 61
32539831 2020
29
Complex redo surgery to treat a large thymoma invading the right atrium. 61
32333440 2020
30
Letter to the Editor Regarding "Rare Thymoma Metastases to the Spine: Case Reports and Review of the Literature". 61
32544997 2020
31
99mTc-dextran Lymphoscintigraphy SPECT/CT unveil the hidden leakage site in recurrent chylothoraxes. 61
32504607 2020
32
Effectiveness and safety of thymectomy plus prednisone compares with prednisone monotherapy for the treatment of non-thymomatous Myasthenia Gravis: Protocol for a systematic review. 61
32569233 2020
33
Transcervical Thymectomy Is the Most Cost-Effective Surgical Approach in Myasthenia Gravis. 61
32135150 2020
34
LncRNA XLOC_003810 modulates thymic Th17/Treg balance in myasthenia gravis with thymoma. 61
32048308 2020
35
Interobserver variation in the classification of thymic lesions including biopsies and resection specimens in an international digital microscopy panel. 61
32506527 2020
36
Essential Contribution of Macrophage Tie2 Signalling in a Murine Model of Laser-Induced Choroidal Neovascularization. 61
32541815 2020
37
Glucocorticoids can induce BIM to trigger apoptosis in the absence of BAX and BAK1. 61
32513923 2020
38
Superior vena cava replacement combined with venovenous shunt for thymic carcinoma. 61
32534411 2020
39
Sulfated syndecan 1 is critical to preventing cellular senescence by modulating fibroblast growth factor receptor endocytosis. 61
32530114 2020
40
Prevention of yellow fever in travellers: an update. 61
32386609 2020
41
History of Japan Clinical Oncology Group (JCOG) Lung Cancer Study Group. 61
32115625 2020
42
Clinical characteristics of GAD 65-associated autoimmune encephalitis. 61
32416610 2020
43
Membranous nephropathy and thymoma in a patient with ankylosing spondylitis: A case report. 61
32358402 2020
44
[Preoperative Spontaneous Regression of Thymoma]. 61
32398393 2020
45
Surgical outcomes of 215 patients with thymic epithelial tumors: A single-center experience. 61
32384230 2020
46
Pulmonary adenomyoma presenting as a right cardiophrenic angle mass. 61
32140196 2020
47
Pericardial Effusion in a Young Man: A Rare Presentation of Thymoma. 61
32378828 2020
48
Surgical treatment of pleural recurrence of thymoma: is hyperthermic intrathoracic chemotherapy worthwhile? 61
32170942 2020
49
PD-L1 expression level in different thymoma stages and thymic carcinoma: a meta-analysis. 61
32366210 2020
50
External compression of the right ventricular outflow tract caused by a malignant thymoma. 61
31769801 2020

Variations for Thymoma, Familial

ClinVar genetic disease variations for Thymoma, Familial:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIT NM_000222.2(KIT):c.2460T>A (p.Asp820Glu)SNV Pathogenic 375929 rs1057519711 4:55599334-55599334 4:54733168-54733168
2 KIT NM_000222.2(KIT):c.1468G>A (p.Glu490Lys)SNV Pathogenic 375903 rs1057519701 4:55592144-55592144 4:54725978-54725978
3 KIT NM_000222.2(KIT):c.1657T>A (p.Tyr553Asn)SNV Pathogenic 375907 rs1057519704 4:55593591-55593591 4:54727425-54727425
4 KIT NM_000222.2(KIT):c.1730_1738del (p.Pro577_Asp579del)deletion Pathogenic 375920 rs1131692239 4:55593662-55593670 4:54727496-54727504
5 KIT NM_000222.2(KIT):c.1676T>C (p.Val559Ala)SNV Pathogenic/Likely pathogenic 13865 rs121913517 4:55593610-55593610 4:54727444-54727444
6 HRAS NM_005343.4(HRAS):c.38G>T (p.Gly13Val)SNV Pathogenic/Likely pathogenic 180848 rs104894226 11:534285-534285 11:534285-534285
7 KIT NM_001093772.1(KIT):c.1664_1666TTG[1] (p.Val556del)short repeat Pathogenic/Likely pathogenic 375913 rs121913685 4:55593609-55593611 4:54727443-54727445
8 KIT NM_000222.2(KIT):c.1727T>C (p.Leu576Pro)SNV Pathogenic/Likely pathogenic 375919 rs121913513 4:55593661-55593661 4:54727495-54727495
9 KIT NM_000222.2(KIT):c.1669T>C (p.Trp557Arg)SNV Likely pathogenic 375909 rs121913235 4:55593603-55593603 4:54727437-54727437
10 KIT NM_000222.2(KIT):c.2089C>T (p.His697Tyr)SNV Uncertain significance 375925 rs763308199 4:55595599-55595599 4:54729433-54729433

Expression for Thymoma, Familial

Search GEO for disease gene expression data for Thymoma, Familial.

Pathways for Thymoma, Familial

Pathways related to Thymoma, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 KIT HRAS
2
Show member pathways
11.36 KIT HRAS
3
Show member pathways
10.87 KIT HRAS
4 10.47 KIT HRAS

GO Terms for Thymoma, Familial

Biological processes related to Thymoma, Familial according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.32 KIT HRAS
2 positive regulation of cell migration GO:0030335 9.26 KIT HRAS
3 positive regulation of MAPK cascade GO:0043410 9.16 KIT HRAS
4 positive regulation of MAP kinase activity GO:0043406 8.96 KIT HRAS
5 positive regulation of phospholipase C activity GO:0010863 8.62 KIT HRAS

Sources for Thymoma, Familial

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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