Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome
Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome
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日本 MDS 伴 VEXAS 综合征病例的临床和遗传特征
DOI：
10.1007/s12185-023-03598-8
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发表时间：
2023
影响因子：
2.1
通讯作者：
Nakajima Hideaki
中科院分区：
文献类型：
--
作者：
Kunimoto Hiroyoshi;Miura Ayaka;Maeda Ayaka;Tsuchida Naomi;Uchiyama Yuri;Kunishita Yosuke;Nakajima Yuki;Takase-Minegishi Kaoru;Yoshimi Ryusuke;Miyazaki Takuya;Hagihara Maki;Yamazaki Etsuko;Kirino Yohei;Matsumoto Naomichi;Nakajima Hideaki
VEXAS综合征是一种由UBA1体细胞变异引起的自身炎症性疾病，常与骨髓增生异常综合征(MDS)共存。与VEXAS相关的日本病例的临床病理和分子特征仍然难以捉摸。我们之前报道了日本复发性多软骨炎患者中UBA1变异体的高患病率，其中5例与MDS并存。在这里，我们报告了这5例和另外2例与VEXAS综合征相关的MDS的临床病理和变异特征。这些病例的临床特征包括巨细胞性贫血患病率高，髓系/红系前体细胞胞浆内有明显的空泡，骨髓原始细胞百分率低。所有病例按修订的国际预后评分系统(IPSS-R)分类为低风险或极低风险。值得注意的是，7例中有4例经强的松龙(PSL)或环孢菌素A(CsA)治疗后贫血显著改善，提示VEXAS综合征引起的潜在炎症环境可能加重了VEXAS相关MDS的大细胞性贫血。对血液样本进行有针对性的深度测序表明，与VEXAS综合征相关的MDS涉及的基因数量往往比传统MDS更少，风险更低。
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a new disease entity with autoinflammatory disorders (AID) driven by somatic variants inUBA1that frequently co-exists with myelodysplastic syndromes (MDS). Clinicopathological and molecular features of Japanese cases with VEXAS-associated MDS remain elusive. We previously reported high prevalence ofUBA1variants in Japanese patients with relapsing polychondritis, in which 5 cases co-occurred with MDS. Here, we report clinicopathological and variant profiles of these 5 cases and 2 additional cases of MDS associated with VEXAS syndrome. Clinical characteristics of these cases included high prevalence of macrocytic anemia with marked cytoplasmic vacuoles in myeloid/erythroid precursors and low bone marrow (BM) blast percentages. All cases were classified as low or very low risk by the revised international prognostic scoring system (IPSS-R). Notably, 4 out of 7 cases showed significant improvement of anemia by treatment with prednisolone (PSL) or cyclosporin A (CsA), suggesting that an underlying inflammatory milieu induced by VEXAS syndrome may aggravate macrocytic anemia in VEXAS-associated MDS. Targeted deep sequencing of blood samples suggested that MDS associated with VEXAS syndrome tends to involve a smaller number of genes and lower risk genetic lesions than classical MDS.
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日本复发性多软骨炎患者的致病性 UBA1 变异。
DOI：
--
发表时间：
2021
期刊：
影响因子：
--
作者：
Tsuchida N;Kunishita Y;Uchiyama Y;Kirino Y;Takase-Minegishi K;Yoshimi R;Nakajima H;Matsumoto N.
通讯作者：
Matsumoto N.
骨髓增生异常综合征的免疫抑制治疗
影响因子：
2.6
作者：
T. Shimamoto;K. Ohyashiki
通讯作者：
K. Ohyashiki
具有炎症表现的小儿骨髓增生异常综合征：诊断、遗传学、治疗和结果
影响因子：
3.2
作者：
A. Yanir;A. Krauss;J. Stein;O. Steinberg;O. Gilad;S. Lotan;O. Dgany;T. Krasnov;Y. Kodman;Tamar Feuerstein;Jacques Mardoukh;H. Fishman;I. Geron;J. Yacobovich;H. Tamary;Y. Birger;G. Avrahami;S. Izraeli;S. B. Birenboim
通讯作者：
S. B. Birenboim
DOI：
10.1056/nejmoa2026834
发表时间：
2020-12-31
期刊：
The New England journal of medicine
影响因子：
--
作者：
Beck DB;Ferrada MA;Sikora KA;Ombrello AK;Collins JC;Pei W;Balanda N;Ross DL;Ospina Cardona D;Wu Z;Patel B;Manthiram K;Groarke EM;Gutierrez-Rodrigues F;Hoffmann P;Rosenzweig S;Nakabo S;Dillon LW;Hourigan CS;Tsai WL;Gupta S;Carmona-Rivera C;Asmar AJ;Xu L;Oda H;Goodspeed W;Barron KS;Nehrebecky M;Jones A;Laird RS;Deuitch N;Rowczenio D;Rominger E;Wells KV;Lee CR;Wang W;Trick M;Mullikin J;Wigerblad G;Brooks S;Dell'Orso S;Deng Z;Chae JJ;Dulau-Florea A;Malicdan MCV;Novacic D;Colbert RA;Kaplan MJ;Gadina M;Savic S;Lachmann HJ;Abu-Asab M;Solomon BD;Retterer K;Gahl WA;Burgess SM;Aksentijevich I;Young NS;Calvo KR;Werner A;Kastner DL;Grayson PC
通讯作者：
Grayson PC
注意事项：一例与过量补锌相关的可逆性血细胞减少症。
DOI：
--
发表时间：
2003
期刊：
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
影响因子：
--
作者：
J. Irving;A. Mattman;G. Lockitch;K. Farrell;L. Wadsworth
通讯作者：
L. Wadsworth