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Case Reports
. 2024 Jun 12:11:1400694.
doi: 10.3389/fmed.2024.1400694. eCollection 2024.

Case report: A healthy baby achieved after preimplantation genetic testing from an infertile woman with hereditary leiomyomatosis and renal cell cancer syndrome

Qianhui Hu #  1 , Qing Zhang #  1 , Mengxi Guo  1 , Haixia Ding  1 , Ji Xi  1 , Meiling Zhang  1 , Min Wang  1 , Lin Zhang  1 , Shuyuan Li  1 , Dandan Wu  1 , Wen Li  1
Affiliations
Case Reports

Case report: A healthy baby achieved after preimplantation genetic testing from an infertile woman with hereditary leiomyomatosis and renal cell cancer syndrome

Qianhui Hu et al. Front Med (Lausanne). .

Abstract

Background: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant inheritable disease caused by Fumarate hydratase (FH) gene germline mutation. It is speculated that for HRLCC infertility women with multiple uterine leiomyomas, preimplantation genetic testing may help block transmission of mutated FH gene during pregnancy.

Case presentation: We present the case of a 26-year-old nulligravida with a history of early-onset uterine leiomyomatosis had a heterozygous nonsense mutation [NM_000143.4 (FH): c.1027C > T(p.Arg343Ter)] in the HRLLC gene. After ovulation induction and in vitro fertilization, preimplantation genetic testing for monogenic disorders (PGT-M) on embryos revealed the absence of the pathogenic allele in two blastomeres. Uterine fibroids were identified before embryo transfer, leading to a submucosal myomectomy and long period of pituitary suppression by Gonadotropin-releasing hormone analog (GnRHa). The patient achieved a healthy live birth after the second cycle of frozen-thawed embryo transfer.

Conclusion: This case details the successful treatment of an infertile patient with an HRLLC family history, resulting in a healthy birth through myomectomy and PGT-M selected embryo transplantation. Our literature search indicates the first reported live birth after HRLLC-PGT-M.

Keywords: PGT-M; case report; embryo transplantation; hereditary leiomyomatosis and renal cell cancer; uterine leiomyomas.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
(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 (×20), scale bars: 2 μm. (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.
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References

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Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This study was supported by the Shanghai Hospital Development Center Foundation (SHDC22022303).