儿童肿瘤的遗传相关性基因的检测目录

英文名称基因中文名称Adenomatous polyposis coli, 175100 APC腺瘤性息肉Adrenal cortical carcinoma, 202300 TP53肾上腺皮质癌，202300Autoimmune lymphoproliferative syndrome type IV NRAS淋巴细胞增生综合征型自身免疫性IVBannayan-Riley-Ruvalcaba SyndromePTENBannayan-Riley-Ruvalcaba综合征Basal cell nevus syndrome, 109400 PTCH1基底细胞痣综合征，109400Birt-Hogg-Dube syndrome, 135150 FLCNBirt-Hogg-Dube综合征，135150Bloom SyndromeBLMBloom综合征Brain tumor-polyposis syndrome 2 APC脑肿瘤性息肉2Breast cancer, 114480 TP53乳腺癌，114480Carney complex variant, 608837 MYH8卡尼复杂的变异，608837Carney complex, type 1, 160980 PRKAR1A卡尼复杂，1型，160980Choroid plexus papilloma, 260500 TP53脉络丛乳头状瘤，260500Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 MUTYH结直肠腺瘤性息肉病，常染色体隐性遗传，与pilomatricomas，132600Cowden SyndromePTENCowden综合征Ewing sarcoma, 612219EWSR1尤文肉瘤Familial Cutaneous Malignant MelanomaCDK4, CDKN2A家族性皮肤恶性黑色素瘤Familial Isolated Hyperparathyroidism (FIHP)CDC73 (HRPT2)家族性孤立的甲状旁腺功能亢进症（FIHP）Familial Medullary Thyroid CancerRET家族性甲状腺髓样癌Fibromatosis, gingival, 135300 SOS1纤维瘤病，牙龈，135300Fumarate Hydratase DeficiencyFH延胡索酸水合酶缺乏症Gorlin SyndromePTCH1Gorlin综合症Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)FH遗传性平滑肌瘤病和肾细胞癌（HLRCC）Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)SDHB遗传性嗜铬细胞瘤综合征（PGL/PCC）Hyperparathyroidism-Jaw Tumor SyndromeCDC73 (HRPT2)甲状旁腺功能亢进症-颌骨肿瘤综合征Hyperparathyroidism-jaw tumor syndrome, 145001 HRPT2甲状旁腺功能亢进症-颌骨肿瘤综合征Hyperthyroidism, familial gestational, 603373TSHR甲状腺功能亢进症，家族性妊娠Hyperthyroidism, nonautoimmune, 609152TSHR甲状腺功能亢进症，自身免疫性Juvenile Polyposis Syndrome (JPS)BMPR1A, SMAD4幼年性息肉病综合征（JPS）Juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT)BMPR1A, SMAD4幼年性息肉病综合征-遗传性出血性毛细血管扩张症（JPS-HHT）LEOPARD syndrome 3, 613707 BRAFLEOPARD综合征3Li-Fraumeni Syndrome (LFS)TP53Li-Fraumeni综合征（LFS）Li-Fraumeni syndrome, 151623 CDKN2ALi-Fraumeni综合征，151623Li-Fraumeni syndrome, 609265 CHEK2Li-Fraumeni综合征，609265Multiple Endocrine Neoplasia 2ARET多内分泌腺瘤病2AMultiple Endocrine Neoplasia 2BRET多内分泌腺瘤病2BMultiple Endocrine Neoplasia Type 1MEN11型多发性内分泌腺瘤Nevoid basal cell carcinoma syndromePTCH1痣样基底细胞癌综合征Parathyroid CarcinomaCDC73 (HRPT2)甲状旁腺癌Peutz-Jeghers SyndromeSTK11黑斑息肉综合征Pneumothorax, Primary SpontaneousFLCN原发性自发性气胸Proteus Syndrome/Proteus-like SyndromePTENProteus综合征/ Proteus样综合征PTEN associated Macrocephaly/Autism SyndromePTENPTEN相关的巨脑畸形/自闭症综合征Rhabdoid predisposition syndrome 1, 609322 SMARCB1横纹肌易感综合征1，609322Rhabdoid tumor predisposition syndrome 2, 613325 SMARCA4横纹肌样肿瘤易感综合征，2，613325Rhabdoid tumors SMARCB1横纹肌样肿瘤Schwannomatosis, 162091 NF2神经鞘瘤病，162091Von Hippel-Lindau syndromeVHLVon Hippel-Lindau综合征Wermer syndromeMEN1Wermer综合征

上海儿童医学中心肿瘤外科顾松