A frequent nonsense mutation in exon 1 across certain HLA-A and -B alleles in leukocytes of patients with acquired aplastic anemia

13301甲第5151号博士（医学）金沢大学博士論文要旨Abstract 以下に掲載：Haematologica 106(6) pp.1581-1590 2021. Ferrata-Storti Foundation. 共著者：Hiroki Mizumaki, Kazuyoshi Hosomichi, Kohei Hosokawa, Takeshi Yoroidaka, Tatsuya Imi, Yoshitaka Zaimoku, Takamasa Katagiri, Mai Anh Thi Nguyen, Dung Cao Tran, Mahmoud Ibrahim Yousef Elbadry, Kazuhisa Chonabayashi, Yoshinori Yoshida, Hiroyuki Takamatsu, Tatsuhiko Ozawa, Fumihiro Azuma, Hiroyuki Kishi, Yoichi Fujii, Seishi Ogawa, Atsushi Tajima, Shinji Naka

A frequent nonsense mutation in exon 1 across certain HLA-A and -B alleles in leukocytes of patients with acquired aplastic anemia

13301甲第5151号博士（医学）金沢大学博士論文本文Full 以下に掲載：Haematologica 106(6) pp.1581-1590 2021. Ferrata-Storti Foundation. 共著者：Hiroki Mizumaki, Kazuyoshi Hosomichi, Kohei Hosokawa, Takeshi Yoroidaka, Tatsuya Imi, Yoshitaka Zaimoku, Takamasa Katagiri, Mai Anh Thi Nguyen, Dung Cao Tran, Mahmoud Ibrahim Yousef Elbadry, Kazuhisa Chonabayashi, Yoshinori Yoshida, Hiroyuki Takamatsu, Tatsuhiko Ozawa, Fumihiro Azuma, Hiroyuki Kishi, Yoichi Fujii, Seishi Ogawa, Atsushi Tajima, Shinji Naka

Familial immune‐mediated aplastic anaemia in six different families

Abstract We studied the pathophysiology of aplastic anaemia (AA) in six different pairs of relatives without a family history of hematologic disorders or congenital AA. Five and four of the six pairs shared the HLA‐DRB1*15:01 and B*40:02 alleles, respectively. Glycosylphosphatidylinositol‐anchored protein‐deficient blood cells were detected in eight of the 10 patients evaluated. In a mother‐daughter pair from one family, flow cytometry detected leukocytes lacking HLA‐A2 due to loss of heterogeneity in chromosome 6p. Whole‐exome sequencing of the family pair revealed a missense mutation in MYSM1. These results suggest that genetic inheritance of immune traits might underlie familial AA in some patients

Outcomes after allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients with der(1;7)(q10;p10)

Abstract The prognosis of acute myeloid leukemia (AML) patients with der(1;7)(q10;p10) who underwent allogeneic hematopoietic stem cell transplantation (allo‐SCT) is unclear due to its rarity. We retrospectively analyzed 151 AML patients with der(1;7)(q10;p10) and compared the findings with those of 853 AML patients with monosomy 7 or chromosome 7q deletion (‐7/del(7q)) using Japanese nationwide registry data. The der(1;7)(q10;p10) group showed significantly better transplant outcomes than the ‐7/del(7q) group. In the multivariate analysis of the der(1;7)(q10;p10) group, additional chromosomal abnormalities and a poor performance status significantly influenced the survival. In conclusion, allo‐SCT is a feasible treatment option for AML patients with der(1;7)(q10;p10)