| Item type |
デフォルトアイテムタイプ（フル）fmu(1) |
| 公開日 |
2025-04-23 |
| タイトル |
|
|
タイトル |
Successful cord blood transplantation for a unique case of bone marrow failure presenting t(2;19)(p23;q13.3) translocation suggesting disruption of DPY30 |
|
言語 |
en |
| 作成者 |
Sato, Yuki
Koyama, Daisuke
Yamada, Shoki
Kamei, Naomi
Fukuchi, Koichiro
Suzuki, Kengo
Uchida, Yasuhiro
Suzuki, Manabu
Fukatsu, Masahiko
Hashimoto, Yuko
Ikezoe, Takayuki
|
| 権利情報 |
|
|
権利情報Resource |
https://creativecommons.org/licenses/by-nc-sa/4.0/ |
|
権利情報 |
© 2025 The Fukushima Society of Medical Science. This article is licensed under a Creative Commons [Attribution-NonCommercial-ShareAlike 4.0 International] license. |
| 内容記述 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
H3K4 methylation, primarily mediated by MLL family proteins, plays a pivotal role in the epigenetic regulation of gene transcription. Among the MLL family, KMT2A is known for its critical role in hematopoiesis. MLL family proteins feature C-terminal SET catalytic domains, requiring the formation of MLL complexes with proteins like DPY30 to maximize their enzymatic activity. Deletion of DPY30 results in a significant reduction in H3K4me1, H3K4me2, and H3K4me3 levels in bone marrow (BM) cells, underscoring the essential role of DPY30 in facilitating optimal catalytic activity within MLL family complexes. Here, we present a unique case of myelodysplastic neoplasms (MDS) associated with a novel t(2;19)(p23;q13.3) translocation. A 22-year-old pregnant woman initially sought consultation due to thrombocytopenia, which temporarily improved following a miscarriage. However, she later presented with progressive pancytopenia. RNA sequencing analysis of BM mononuclear cells using STAR-Fusion revealed the translocation breakpoint on chromosomes, resulting in the disruption of the DPY30 and CEACAM6 genes. BM failure showed marked improvement following cord blood transplantation. This case represents a novel form of MDS associated with the disruption of the DPY30 gene. Our findings underscore the importance of considering early hematopoietic stem cell transplantation for MDS cases attributed to DPY30 dysfunction. |
| 出版者 |
|
|
出版者 |
The Fukushima Society of Medical Science |
| 言語 |
|
|
言語 |
eng |
| 書誌情報 |
en : Fukushima journal of medical science
巻 76,
号 2,
p. 129-134,
発行日 2025
|
| 関連情報 |
|
|
関連タイプ |
isIdenticalTo |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.5387/fms.24-00044 |
| 関連情報 |
|
|
|
識別子タイプ |
PMID |
|
|
関連識別子 |
39909446 |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
0016-2590 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
2185-4610 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA0065246X |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
DPY30 |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
MLL complex |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
KMT2A |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
CEACAM6 |
| 主題 |
|
|
主題Scheme |
Other |
|
主題 |
myelodysplastic neoplasms |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Humans |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Translocation, Genetic |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Female |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Young Adult |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Cord Blood Stem Cell Transplantation |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Chromosomes, Human, Pair 19 |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Chromosomes, Human, Pair 2 |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Pregnancy |
| 主題 |
|
|
主題Scheme |
MeSH |
|
主題 |
Myelodysplastic Syndromes |
FksmJMedSci_71_p129.pdf
