■在博士学位中发现了46,XY家族性发育障碍(DSD),BCR::ABL1P210+具有RCBTB2::LPAR6融合基因的急性淋巴细胞白血病(ALL)女性。兄弟姐妹发展46,XYDSD极为罕见。46,XYDSD患者的性腺癌发病率更高。然而,DSDs患者中恶性血液病的发生率很少受到关注.RCBTB2::LPAR6是ALL中很少报道的融合基因。
■这里,我们报告了一个罕见的新诊断的Ph+,BCR::ABL1P210+所有患者,77岁,女性,按社会性别分类。全外显子组测序(WES)和RNA测序显示TET2和NF1突变,除了很少报道的RCBTB2::LPAR6融合基因和其他17个具有不确定临床意义的基因。令人惊讶地发现患者具有男性核型。在超声波上,子宫和卵巢都不可见。详细的家庭和婚姻史表明,患者在很小的时候就因无法解释的腹股沟肿块接受了手术。她青春期发育缓慢,月经稀少,很少有明显的女性特征。她有过三次婚姻,但都没有成功怀孕.由于无法获得医疗治疗和缺乏医学知识,患者从未寻求过不孕症的治疗。她的妹妹,73岁和女性的社会性别,他们在青春期有闭经,无法怀孕,有同样的经历。令我们惊讶的是,她也有男性核型。
■由于缺乏长期的社会关注和后续行动,关于46,XYDSD患者血液系统恶性肿瘤发生率的研究非常罕见。兄弟姐妹发展46,XYDSD极为罕见。我们报告了诊断为46,XYDSD的年龄最大的患者。尚未有任何家族性46,XYDSD与Ph+BCR::ABL1P210+ALL同时诊断的报道,RCBTB2::LPAR6融合基因很少报道。
UNASSIGNED: Familial 46, XY Disorder of Sexual Development (DSD) was discovered in a Ph+, BCR::ABL1P210+ Acute Lymphoblastic Leukemia (ALL) female with RCBTB2::LPAR6 fusion gene. Siblings developing 46, XY DSD are extremely rare. Patients with 46, XY DSD have much higher rates of gonadal cancers. Nevertheless, the incidence of hematologic malignancies in patients with DSDs has received little attention. RCBTB2::LPAR6 is a rarely reported fusion gene in ALL.
UNASSIGNED: Herein, we report a rare case of a newly diagnosed Ph+, BCR::ABL1P210+ ALL patient who was 77 years old and female by social sex. Whole Exome Sequencing (WES) and RNA sequencing revealed TET2 and NF1 mutations in addition to a rarely reported RCBTB2::LPAR6 fusion gene and 17 other genes with uncertain clinical significance. The patient was surprisingly found to have a male karyotype. On ultrasound, neither the uterus nor the ovaries were discernible. A detailed family and marital history revealed that the patient had undergone surgery at an early age for an unexplained inguinal mass. She had slow pubertal development, scanty menstruation, and few overtly feminine characteristics. She had three marriages, but none succeeded in getting pregnant. The patient had never sought therapy for infertility due to the inaccessibility of medical treatment and a lack of medical knowledge. Her sister, 73 years old and female by social sex, who had amenorrhea in adolescence and was unable to conceive, had the same experience. To our surprise, she also had a male karyotype.
UNASSIGNED: Due to the absence of long-term social attention and follow-up, studies on the incidence of hematologic malignancies in patients with 46, XY DSD are incredibly uncommon. Siblings developing 46, XY DSD is extremely rare. We report the oldest patient diagnosed with 46, XY DSD. There have not yet been any reports of familial 46, XY DSD with a concurrent diagnosis of Ph+BCR::ABL1P210+ ALL with a rarely reported RCBTB2::LPAR6 fusion gene.