Klinische FragestellungPädiatrische Tumor-Prädisposition, hereditär

NGS +

TP5858

Etwa 10 % aller neu diagnostizierten Krebserkrankungen sind auf vererbte genetische Merkmale zurückzuführen. Krebserkrankungen dieser Gruppe entwickeln sich oft in sehr jungem Alter. Das hier verwendete Panel besteht aus 128 Genen, die praktisch alle bekannten erblich bedingte Krebsdispositionen des Kindes- und Adoleszentenalters abdecken und alle Organsysteme betreffen können, darunter Auge, Blut, Brustdrüse, endokrine Organe, Gehirn, Harnblase, Integument, Knochen, Lunge, Nebenniere, Nervengewebe, Niere und Verdauungstrakt

Literatur: Saletta et al.: Genetic causes of cancer predisposition in children and adolescents. Transl Pediatr. 4:67-75 (2015).

• PS: Nicht eingeschlossen sind Gene, die mit Krebsleiden des Erwachsenen assoziiert sind
• Alias: Colorectal adenomatous polyposis
• Alias: Familial polyposis coli, FAP
• Alias: Gardner syndrome
• Alias: Neoplasie, endokrine multiple, MEN
• Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
• Allelic: Baller-Gerold syndrome (RECQL4)
• Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Allelic: Bohring-Opitz syndrome (ASXL1)
• Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Central hypoventilation syndrome, congenital, with/_out Hirschsprung disease (PHOX2B)
• Allelic: Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Choreoathetosis, hypothyroidism, neonatal respiratory distress (NKX2-1)
• Allelic: Coats plus syndrome (CTC1)
• Allelic: Coffin-Siris syndrome 3 (SMARCB1)
• Allelic: Coffin-Siris syndrome 4 (SMARCA4)
• Allelic: Coffin-Siris syndrome 5 (SMARCE1)
• Allelic: Colorectal cancer, somatic (EP300)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Costello syndrome (HRAS)
• Allelic: Deafness, AD 27 (REST)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Dysautonomia, familial (ELP1)
• Allelic: Emberger syndrome (GATA2)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
• Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
• Allelic: Fumarase deficiency (FH)
• Allelic: Gastric cancer, somatic (MUTYH)
• Allelic: Hirschsprung disease, protection against (RET)
• Allelic: Hirschsprung disease, susceptibility to, 1 (RET)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Hyperparathyroidism, familial primary (CDC73)
• Allelic: IMAGE syndrome (CDKN1C)
• Allelic: Immunodeficiency 21 (GATA2)
• Allelic: Insensitivity to pain, congenital, with anhidrosis (NTRK1)
• Allelic: Joubert syndrome 32 (SUFU)
• Allelic: Keipert syndrome (GPC4)
• Allelic: Kosaki overgrowth syndrome (PDGFRB)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Mental retardation, AD 29 (SETBP1)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
• Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
• Allelic: Myhre syndrome (SMAD4)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
• Allelic: Oocyte maturation defect 9 (TRIP13)
• Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• Allelic: RAPADILINO syndrome (RECQL4)
• Allelic: Thrombocytopenia 5 (ETV6)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• APC-related attenuated familial adenomatous polyposis (APC)
• Adenocarcinoma of lung, somatic (BRAF)
• Adenoma, periampullary, somatic (APC)
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli (APC)
• Adrenal adenoma, somatic (MEN1)
• Adrenocortical carcinoma, pediatric (TP53)
• Adrenocortical tumor, somatic (PRKAR1A)
• Angiofibroma, somatic (MEN1)
• Aplastic anemia (NBN)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM)
• Basal cell carcinoma 7 (TP53)
• Basal cell carcinoma, somatic (PTCH1)
• Basal cell nevus syndrome (PTCH1)
• Basal cell nevus syndrome (SUFU)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Bladder cancer, somatic (KRAS)
• Bladder cancer, somatic (RB1)
• Bloom syndrome (BLM)
• Bone marrow failure syndrome 5 (TP53)
• Brain tumor-polyposis syndrome 2 (APC)
• Breast cancer, early-onset, susceptibility to (BRIP1)
• Breast cancer, male, susceptibility to (BRCA2)
• Breast cancer, somatic (KRAS)
• Breast cancer, somatic (TP53)
• Breast cancer, susceptibility to (ATM)
• Breast cancer, susceptibility to (PALB2)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Carcinoid tumor of lung (MEN1)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Carney complex, type 1 (PRKAR1A)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrooculofacioskeletal syndrome 3 (ERCC5)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Cerebroretinal microangiopathy with calcifications and cysts (CTC1)
• Choroid plexus papilloma (TP53)
• Colorectal cancer (TP53)
• Colorectal cancer, hereditary nonpolyposis, type 1 (MSH1)
• Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Colorectal cancer, somatic (APC)
• Colorectal cancer, somatic (BRAF)
• Colorectal cancer, somatic (BUB1B)
• Cowden syndrome 1 (PTEN)
• Denys-Drash syndrome (WT1)
• Desmoid disease, hereditary (APC)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 3 (RPS24)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 8 (RPS7)
• Diamond-Blackfan anemia 9 (RPS10)
• Dyskeratosis congenita (INVS)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR (CTC1)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (RTEL1)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Dyskeratosis congenita, autosomal dominant 4 (RTEL1)
• Dyskeratosis congenita, autosomal recessive 5 (RTEL1)
• Endometrial cancer, familial (MSH6)
• Erythrocytosis, familial, 2 (VHL)
• Erythrocytosis, somatic (SH2B3)
• Faciocutaneoskeletal syndrome (HRAS)
• Familial Wilms tumor (TRIM28)
• Familial Wilms tumor [panelapp] (TRIM28)
• Fanconi anemia, complementation group A (FANCA)
• Fanconi anemia, complementation group B (FANCB)
• Fanconi anemia, complementation group C (FANCC)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group E (FANCE)
• Fanconi anemia, complementation group F (FANCF)
• Fanconi anemia, complementation group G (FANCG)
• Fanconi anemia, complementation group I (FANCI)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group L (FANCL)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• Fanconi anemia, complementation group U (XRCC2)
• Fanconi anemia, complementation group V (MAD2L2)
• Fibromatosis, gingival, 1 (SOS1)
• Fibromatosis, gingival, 5 (REST)
• Frasier syndrome (WT1)
• GLOW syndrome, somatic mosaic (DICER1)
• Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
• Gastric cancer, somatic (APC, KRAS)
• Gastrointestinal stromal tumor (SDHB, SDHC)
• Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial (PDGFRA)
• Glioblastoma 3 (BRCA2)
• Glioma susceptibility 1 (TP53)
• Glioma susceptibility 2 (PTEN)
• Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
• Hemangioblastoma, cerebellar, somatic (VHL)
• Hepatoblastoma, somatic (APC)
• Hepatocellular carcinoma, somatic (TP53)
• Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA)
• Hyperparathyroidism-jaw tumor syndrome (CDC73)
• Juvenile myelomonocytic leukemia (CBL)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• L-2-hydroxyglutaric aciduria (L2HGDH)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Leiomyomatosis + renal cell cancer (FH)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, acute lymphoblastic, susceptibility to (PAX5)
• Leukemia, acute myeloid (CEBPA, RUNX1, TERT)
• Leukemia, acute myeloid, somatic (CEBPA, ETV6, KRAS)
• Leukemia, acute myeloid, susceptibility to (GATA2)
• Leukemia, juvenile myelomonocytic (NF1)
• Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Lhermitte-Duclos syndrome (PTEN)
• Li-Fraumeni syndrome (TP53)
• Lipoma, somatic (MEN1)
• Lung cancer, somatic (KRAS)
• Lymphangioleiomyomatosis (TSC1)
• Lymphangioleiomyomatosis, somatic (TSC2)
• Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Lymphoma, mantle cell, somatic (ATM)
• MIRAGE syndrome (SAMD9)
• Meacham syndrome (WT1)
• Medullary thyroid carcinoma (RET)
• Medulloblastoma (BRCA2)
• Medulloblastoma, desmoplastic (SUFU)
• Melanoma, cutaneous malignant, 9 (TERT)
• Melanoma, malignant, somatic (BRAF)
• Melanoma, malignant, somatic (STK11)
• Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Meningioma (PTEN)
• Meningioma, NF2-related, somatic (NF2)
• Meningioma, familial, susceptibility to (SMARCE1)
• Meningioma, familial, susceptibility to (SUFU)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mesothelioma, somatic (WT1)
• Metachondromatosis (PTPN11)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
• Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Mosaic variegated aneuploidy syndrome 1 (BUB1B)
• Mosaic variegated aneuploidy syndrome 3 (TRIP13)
• Muir-Torre syndrome (MLH1, MSH2)
• Mulibrey nanism (TRIM37)
• Multiple endocrine neoplasia 1, Wermer syndrome (MEN1)
• Multiple endocrine neoplasia IIA (RET)
• Multiple endocrine neoplasia IIB (RET)
• Multiple endocrine neoplasia, type IV (CDKN1B)
• Myelodysplastic syndrome, somatic (ASXL1)
• Myelodysplastic syndrome, susceptibility to (GATA2)
• Myelofibrosis, somatic (SH2B3)
• Myeloproliferative disorder with eosinophilia (PDGFRB)
• Myofibromatosis, infantile, 1 (PDGFRB)
• Myxoma, intracardiac (PRKAR1A)
• Nasopharyngeal carcinoma, somatic (TP53)
• Neuroblastoma with Hirschsprung disease (PHOX2B)
• Neuroblastoma, susceptibility to, 2 (PHOX2B)
• Neuroblastoma, susceptibility to, 3 (ALK)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Nevus sebaceous or woolly hair nevus, somatic (HRAS)
• Nijmegen breakage syndrome (NBN)
• Nonsmall cell lung cancer, somatic (BRAF)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• Noonan syndrome 2 (LZTR1)
• Noonan syndrome 3 (KRAS)
• Noonan syndrome 4 (SOS1)
• Noonan syndrome 5 (RAF1)
• Noonan syndrome 7 (BRAF)
• Noonan syndrome 8 (RIT1)
• Noonan syndrome 9 (SOS2)
• Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• Oculoectodermal syndrome, somatic (KRAS)
• Osteosarcoma (TP53)
• Osteosarcoma, somatic (RB1)
• Pancreatic cancer 2 (BRCA2)
• Pancreatic cancer, somatic (SMAD4)
• Pancreatic cancer, somatic (STK11)
• Pancreatic cancer, somatic (TP53)
• Pancreatic cancer, susceptibility to, 3 (PALB2)
• Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Pancreatic carcinoma, somatic (KRAS)
• Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
• Paragangliomas 1, with/-out deafness (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3 (SDHC)
• Paragangliomas 4 (SDHB)
• Paragangliomas 5 (SDHA)
• Parathyroid adenoma with cystic changes (CDC73)
• Parathyroid adenoma, somatic (MEN1)
• Parathyroid carcinoma (CDC73)
• Perlman syndrome (DIS3L2)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma (RET, SDHB, SDHD, VHL)
• Pheochromocytoma, susceptibility to (MAX, TMEM127)
• Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Pleuropulmonary blastoma (DICER1)
• Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
• Polyposis, juvenile intestinal (BMPR1A)
• Polyposis, juvenile intestinal (SMAD4)
• Premature aging syndrome, Penttinen type (PDGFRB)
• Premature chromatid separation trait (BUB1B)
• Prostate cancer (BRCA2)
• Prostate cancer, somatic (PTEN)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Renal cell carcinoma, somatic (VHL)
• Retinoblastoma (RB1)
• Retinoblastoma, trilateral (RB1)
• Revesz syndrome (TINF2)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
• Rhabdoid tumors, somatic (SMARCB1)
• Rhabdomyosarcoma, embryonal, 2 (DICER1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Schwannomatosis, somatic (NF2)
• Schwannomatosis-1, susceptibility to (SMARCB1)
• Schwannomatosis-2, susceptibility to (LZTR1)
• Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
• Small cell cancer of the lung, somatic (RB1)
• Sotos syndrome 1 (NSD1)
• Spitz nevus/nevus spilus, somatic (HRAS)
• Susceptibility to ALL (SH2B3)
• T-cell prolymphocytic leukemia, somatic (ATM)
• Testicular tumor, somatic (STK11)
• Thrombocythemia, somatic (SH2B3)
• Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Thyroid carcinoma, follicular, somatic (HRAS, NRAS)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trichothiodystrophy 2, photosensitive (ERCC3)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Tumor predisposition syndrome (BAP1)
• Tyrosinemia, type I (FAH)
• Watson syndrome (NF1)
• Weaver syndrome (EZH2)
• Werner syndrome (WRN)
• Wilms tumor (BRCA2)
• Wilms tumor 6, susceptibility to (REST)
• Wilms tumor, familial (TRIM28)
• Wilms tumor, somatic (GPC3)
• Wilms tumor, type (WT1)
• Wilms tumour [panelapp] (NYNRIN)
• XFE progeroid syndrome (ERCC4)
• Xeroderma pigmentosum, group A (XPA)
• Xeroderma pigmentosum, group B (ERCC3)
• Xeroderma pigmentosum, group C (XPC)
• Xeroderma pigmentosum, group D (ERCC2)
• Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
• Xeroderma pigmentosum, group F (ERCC4)
• Xeroderma pigmentosum, group F/Cockayne syndrome (ERCC4)
• Xeroderma pigmentosum, group G (ERCC5)
• Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
• Xeroderma pigmentosum, variant type (POLH)
• [Familial Wilms tumor; panelapp] (CTR9)
• von Hippel-Lindau syndrome (VHL)