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Case Reports
. 2019 Jan 1;58(1):109-113.
doi: 10.2169/internalmedicine.0317-17. Epub 2018 Aug 24.

Successful Cord Blood Transplantation in a Werner Syndrome Patient with High-risk Myelodysplastic Syndrome

Kiyohito Hayashi  1 , Taizo Tasaka  1   2 , Toshinori Kondo  1 , Yuichi Ishikawa  3 , Makoto Goto  4 , Yoshiko Matsuhashi  1 , Yoshito Sadahira  5 , Takashi Sugihara  1 , Hideho Wada  1
Affiliations
Case Reports

Successful Cord Blood Transplantation in a Werner Syndrome Patient with High-risk Myelodysplastic Syndrome

Kiyohito Hayashi et al. Intern Med. .

Abstract

Werner syndrome (WS) confers a high risk of the development of neoplasias, including hematological malignancies, and curative treatment for these malignancies is difficult to achieve. A 44-year-old man with myelodysplastic syndrome was admitted to our hospital. He was diagnosed with mutation-proven WS. He underwent cord blood transplantation (CBT) following fludarabine, busulfan, and melphalan administration. A chimerism analysis of his marrow blood on day 62 showed a donor pattern >95%, which confirmed engraftment. The patient lived for 15 months while maintaining remission of MDS without treatment-related toxicity. Our case shows that CBT can be a treatment modality for WS patients with hematological malignancies.

Keywords: Werner syndrome; cord blood transplantation; myelodysplastic syndrome.

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Conflict of interest statement

The authors state that they have no Conflict of Interest (COI).

Figures

Figure.
Figure.
The immunohistochemical expression of p53 and WRN in a formalin-fixed, paraffin-embedded patient bone marrow clot section is shown. The antibody used for the immunostaining reacted with wild-type WRN but not with the mutated WRN of bone marrow erythroblasts. More than 30% of cells were TP53-positive (black arrows) before CBT, but TP53-positive cells were undetectable after CBT. WRN-positive cells (blue arrows) were completely absent before CBT but present after CBT. CBT: cord blood transplantation
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