case_images: PMC11291305_01
case_images: Testing techniques include G-banding technique, WES, and RNA sequencing. (A) G-banding analysis of bone marrow cells indicated the karyotype of 46, XY, t(9;22)(q34;q11.2)[10]/47, idem, +der(22)t(9;22)[1]/46, idem, del(13)(q12q14)[1]. (B) The chromosome analysis was performed with the patient's peripheral blood, which still revealed a male karyotype. (C) The chromosomes of this patient's sister were suggestive of a male karyotype. (D) WES and RNA sequencing indicated three fusion genes, including BCR::ABL1, ABL1::BCR, and RCBTB2::LPAR6. (E) WES and RNA sequencing indicated 46, XY DSD, with three additional chromosomal variants, del(9) (p24.3q34.12), dup(13) (q11q34), and dup(22) (q11.1q11.23). The genomic coordinates were chr9:g.190065_133643956del, chr13:g.19194200_115109878dup, and chr22:g.16962100_23627091dup, respectively.
case_images: fonc-14-1339737-g001.jpg
case_images: PMC11291305_02_fonc-14-1339737-g001.jpg
case_images: f1
case_images: We re-examined the patient's peripheral blood for chromosomal verification, which was still suggestive of a male karyotype ( Figure 1B ). In addition to the BCR::ABL1 fusion gene, the ABL1::BCR fusion gene, and a novel RCBTB2::LPAR6 fusion gene were also discovered ( Figure 1D ). Copy Number Variation Sequencing (CNV-Seq) confirmed that the patient's sex chromosomes were XY, which was inconsistent with social gender, along with three autosomal variants (del(9) [p24.3q34.12), dup(13) (q11q34), and dup(22) (q11.1q11.23)] ( Figure 1E ). When we karyotyped the patient's sister, we discovered, to our surprise, that she too had a male karyotype ( Figure 1C ).
case_images: PMC11291305_02
case_images: Testing techniques include G-banding technique, WES, and RNA sequencing. (A) G-banding analysis of bone marrow cells indicated the karyotype of 46, XY, t(9;22)(q34;q11.2)[10]/47, idem, +der(22)t(9;22)[1]/46, idem, del(13)(q12q14)[1]. (B) The chromosome analysis was performed with the patient's peripheral blood, which still revealed a male karyotype. (C) The chromosomes of this patient's sister were suggestive of a male karyotype. (D) WES and RNA sequencing indicated three fusion genes, including BCR::ABL1, ABL1::BCR, and RCBTB2::LPAR6. (E) WES and RNA sequencing indicated 46, XY DSD, with three additional chromosomal variants, del(9) (p24.3q34.12), dup(13) (q11q34), and dup(22) (q11.1q11.23). The genomic coordinates were chr9:g.190065_133643956del, chr13:g.19194200_115109878dup, and chr22:g.16962100_23627091dup, respectively.
case_images: fonc-14-1339737-g001.jpg
case_images: PMC11291305_02_fonc-14-1339737-g001.jpg
case_images: f1
case_images: We re-examined the patient's peripheral blood for chromosomal verification, which was still suggestive of a male karyotype ( Figure 1B ). In addition to the BCR::ABL1 fusion gene, the ABL1::BCR fusion gene, and a novel RCBTB2::LPAR6 fusion gene were also discovered ( Figure 1D ). Copy Number Variation Sequencing (CNV-Seq) confirmed that the patient's sex chromosomes were XY, which was inconsistent with social gender, along with three autosomal variants (del(9) [p24.3q34.12), dup(13) (q11q34), and dup(22) (q11.1q11.23)] ( Figure 1E ). When we karyotyped the patient's sister, we discovered, to our surprise, that she too had a male karyotype ( Figure 1C ).
case_images: The patient's treatment timeline.
case_images: fonc-14-1339737-g002.jpg
case_images: PMC11291305_02_fonc-14-1339737-g002.jpg
case_images: f2
case_images: During the therapy, the patient developed pancytopenia combined with a severe lung infection, and ultimately died of the infection one month later.  Figure 2  shows the treatment timeline of this patient.