case_images: PMC11199679_01
case_images: (A) Pedigree of the family. The white square/circle represents healthy male/female individuals; the oblique line means that individual has passed away. (B-D) Histopathology of uterine fibroids (x20), scale bars: 2 mum. (B) IHC for FH showed diffuse loss of FH staining in the cytoplasm of tumor cells in contrast with the presence of FH staining in blood vessel cells (arrowhead). (C) IHC for 2-succinocysteine (2SC) showed strong, diffuse cytoplasmic and nuclear staining. (D) Hematoxylin-eosin staining showed the cytoplasmic eosinophilic granules (arrow) and areas of patchy edema. (E) Mutation screening of the principle of family members using Sanger sequencing. The green bar indicates the mutation site (FH): c.1027C > T at an individual person. (F) The ultrasound showed in subsequent examination that myoma in the middle part of the anterior uterine wall compressed the uterine cavity. (G) The ultrasound showed a 5-6 weeks gestational sac. (H) Mutation screening of the baby through umbilical cord blood sampling. (I) The time line of this patient's historical and current treatment.
case_images: fmed-11-1400694-g001.jpg
case_images: PMC11199679_01_fmed-11-1400694-g001.jpg
case_images: fig1
case_images: Immunohistochemical (IHC) staining of uterine fibroids showed 2SC positivity and FH loss (Figures 1B,C) and HE staining showed cell cytoplasm is eosinophilic (Figure 1D). The patient had a family history in which her mother and three maternal aunts had all been diagnosed with uterine leiomyomas and treated with hysterectomy, while her maternal uncle had renal cell carcinoma and was deceased (Figure 1A). The patient's family underwent whole exome sequencing and one mutation was identified [NM_000143.4(FH): c.1027C > T(p.Arg343Ter)], in accordance with recently updated guidelines (Figure 1E). However, subsequent ultrasonography and abdominal MRIs revealed that a midsection fibroid in the anterior wall of the uterus was compressing the uterine cavity, impacting embryo implantation (Figure 1F). A positive beta-hCG concentration of 1672.4 IU/L was detected, and subsequent ultrasound confirmation revealed a successful pregnancy (Figure 1G).