# A Successful Live Birth After Double Fertility Preservation With Embryo Cryopreservation and MPA Therapy Combined With Hysteroscopic Resection for Metachronous Breast and Endometrial Cancer in Women With Cowden Syndrome: A Case Report

**Authors:** Itsuki Kajimura, Michio Kitajima, Shoko Miura, Chiaki Eishi, Riko Matsuda, Kanako Matsumoto, Ayumi Harada, Yuriko Kitajima, Yuri Hasegawa, Megumi Matsumoto, Keitaro Matsumoto, Kiyonori Miura

PMC · DOI: 10.1002/rmb2.70035 · Reproductive Medicine and Biology · 2026-03-05

## TL;DR

A woman with Cowden syndrome successfully gave birth after undergoing multiple fertility preservation treatments for breast and endometrial cancer.

## Contribution

This is the first report of live birth following multiple fertility preservation therapies for metachronous cancers in Cowden syndrome.

## Key findings

- Frozen–thaw embryo transfer resulted in a successful live birth after chemotherapy for breast cancer.
- Endometrial cancer was managed with MPA therapy and hysteroscopic resection during hormonal treatment.
- Multidisciplinary collaboration is essential for fertility preservation in Cowden syndrome.

## Abstract

Cowden syndrome is an autosomal‐dominantly inherited rare condition caused by germline pathogenic variants of the PTEN gene. Multiple tumor development at a younger age in this syndrome may warrant different modalities of fertility preservation. Here we report that women with this syndrome gave successful live birth with frozen–thaw embryo transfer that was cryopreserved before the start of chemotherapy for breast cancer. This woman also suffered from endometrial cancer that developed during hormonal treatment with GnRH agonist and tamoxifen for breast cancer. The lesion was well controlled with oral MPA therapy and hysteroscopic resection.

She could receive fertility preservation for breast cancer and endometrial cancer before fertility treatment and pregnancy.

This is the first report of live births after multiple fertility preservation therapy for metachronous breast and uterine cancer in Cowden syndrome. Appropriate genetic counseling may help the patient's decision making. The treatment plan should be discussed with diverse professionals such as oncologists, reproductive physicians, perinatologists, geneticists, and genetic counselors.

## Linked entities

- **Genes:** PTEN (phosphatase and tensin homolog) [NCBI Gene 5728]
- **Chemicals:** MPA (PubChem CID 86289586), tamoxifen (PubChem CID 2733526)
- **Diseases:** Cowden syndrome (MONDO:0016063), breast cancer (MONDO:0004989), endometrial cancer (MONDO:0002447)

## Full-text entities

- **Genes:** ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}, PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}, CYP19A1 (cytochrome P450 family 19 subfamily A member 1) [NCBI Gene 1588] {aka ARO, ARO1, CPV1, CYAR, CYP19, CYPXIX}, EREG (epiregulin) [NCBI Gene 2069] {aka EPR, ER, Ep}, PGR (progesterone receptor) [NCBI Gene 5241] {aka NR3C3, PR}, AMH (anti-Mullerian hormone) [NCBI Gene 268] {aka MIF, MIS}
- **Diseases:** hamartomatous (MESH:C563621), bleeding (MESH:D006470), thyroid (MESH:D013966), autosomal-dominantly inherited condition (MESH:D030342), , and kidney cancers (MESH:D007680), hereditary tumor disorder (MESH:D013132), monogenic disease (MESH:D004194), lipoma (MESH:D008067), hereditary cancer syndromes (MESH:D009386), Cancer (MESH:D009369), uterine cancer (MESH:D014594), endometrial intraepithelial neoplasia (MESH:D002578), macrocephaly (MESH:D058627), Endometrial (MESH:D014591), endometrial hyperplasia (MESH:D004714), polyp (MESH:D011127), subclavian arteriovenous malformation (MESH:D001165), multiple papillomatosis (MESH:D010212), Breast cancer (MESH:D001943), PGT-M (OMIM:616814), adenomatous goiter (MESH:D006042), hemangioma (MESH:D006391), Breast and Endometrial Cancer (MESH:C537243), metastases (MESH:D009362), abnormal uterine bleeding (MESH:D014592), Cowden Syndrome (MESH:D006223), endometrial cancer (MESH:D016889), breast masses (MESH:D061325), colorectal (MESH:D015179), postmenopausal (MESH:D015663), Infertility (MESH:D007246)
- **Chemicals:** cyclophosphamide (MESH:D003520), MPA (MESH:D017258), tamoxifen (MESH:D013629), LNG-IUS (MESH:D016912), eosin (MESH:D004801), docetaxel (MESH:D000077143), DTX (-), epirubicin (MESH:D015251), letrozole (MESH:D000077289), hematoxylin (MESH:D006416), megestrol (MESH:D008535)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** c.37A>T, p.Lys13*

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12963780/full.md

## References

16 references — full list in the complete paper: https://tomesphere.com/paper/PMC12963780/full.md

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Source: https://tomesphere.com/paper/PMC12963780