Hematologic complications with age in Shwachman-Diamond syndrome.
Hematologic complications with age in Shwachman-Diamond syndrome.
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DOI：
10.1182/bloodadvances.2021005539
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发表时间：
2022-01-11
期刊：
影响因子：
7.5
通讯作者：
Shimamura A
中科院分区：
文献类型：
--
作者：
Furutani E;Liu S;Galvin A;Steltz S;Malsch MM;Loveless SK;Mount L;Larson JH;Queenan K;Bertuch AA;Fleming MD;Gansner JM;Geddis AE;Hanna R;Keel SB;Lau BW;Lipton JM;Lorsbach R;Nakano TA;Vlachos A;Wang WC;Davies SM;Weller E;Myers KC;Shimamura A
严重的骨髓衰竭主要发生在双等位基因SBDS突变的儿童早期。双等位基因SBDS突变患者的绝对中性粒细胞计数与年龄呈正相关（P < 0.0001）。Shwachman-Diamond综合征（SDS）是一种具有白血病易感性的遗传性骨髓衰竭综合征。了解SDS随年龄的血液学并发症可以指导临床管理，但这种罕见疾病的数据有限。我们进行了一项队列研究，来自143个已确认双等位基因SBDS突变的家庭的153名受试者在北美Shwachman Diamond Registry或Bone Marrow Failure Registry登记。除1例患者外，其余患者均存在SBDS C .258 + 2T>C变异。为了评估血细胞计数与年龄之间的关系，对119名受试者的2146个血细胞计数进行了分析。绝对中性粒细胞计数与年龄呈正相关（P < 0.0001）。血红蛋白也与18岁以下的年龄呈正相关（P < 0.0001），但此后呈负相关（P = 0.0079）。血小板计数和骨髓细胞数与年龄呈负相关（P < 0.0001）。骨髓细胞数量与血细胞计数无关。8例受试者中位年龄为1.7岁（范围0.4-39.5岁）发生严重骨髓衰竭，需要进行移植，其中7例在8岁前需要进行移植。26名受试者（17%）在中位年龄分别为12.3岁（范围0.5-45.0）和28.4岁（范围14.4-47.3）时发生髓系恶性肿瘤（16名骨髓增生异常和10名急性髓系白血病）。1例患者在16.9岁时发生淋巴细胞恶性肿瘤。血液学并发症是死亡的主要原因（17/20例死亡，85%）。这些数据为SDS患者血液学并发症的监测提供了信息。
Severe bone marrow failure was primarily observed in early childhood in children with biallelic SBDS mutations. Absolute neutrophil counts were positively associated with age (P < .0001) in patients with biallelic SBDS mutations. Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with leukemia predisposition. An understanding of the hematologic complications of SDS with age could guide clinical management, but data are limited for this rare disease. We conducted a cohort study of 153 subjects from 143 families with confirmed biallelic SBDS mutations enrolled on the North American Shwachman Diamond Registry or Bone Marrow Failure Registry. The SBDS c.258 + 2T>C variant was present in all but 1 patient. To evaluate the association between blood counts and age, 2146 blood counts were analyzed for 119 subjects. Absolute neutrophil counts were positively associated with age (P < .0001). Hemoglobin was also positively associated with age up to 18 years (P < .0001), but the association was negative thereafter (P = .0079). Platelet counts and marrow cellularity were negatively associated with age (P < .0001). Marrow cellularity did not correlate with blood counts. Severe marrow failure necessitating transplant developed in 8 subjects at a median age of 1.7 years (range, 0.4-39.5), with 7 of 8 requiring transplant prior to age 8 years. Twenty-six subjects (17%) developed a myeloid malignancy (16 myelodysplasia and 10 acute myeloid leukemia) at a median age of 12.3 years (range, 0.5-45.0) and 28.4 years (range, 14.4-47.3), respectively. A lymphoid malignancy developed in 1 patient at the age of 16.9 years. Hematologic complications were the major cause of mortality (17/20 deaths; 85%). These data inform surveillance of hematologic complications in SDS.
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影响因子：
4
作者：
Stepensky, Polina;Chacon-Flores, Montserrat;Elpeleg, Orly
通讯作者：
Elpeleg, Orly
Shwachman-Diamond综合征和骨髓增生性综合征或急性髓样白血病患者的临床特征和结果：多中心，回顾性，队列研究。
DOI：
10.1016/s2352-3026(19)30206-6
发表时间：
2020-03
期刊：
The Lancet. Haematology
影响因子：
--
作者：
Myers KC;Furutani E;Weller E;Siegele B;Galvin A;Arsenault V;Alter BP;Boulad F;Bueso-Ramos C;Burroughs L;Castillo P;Connelly J;Davies SM;DiNardo CD;Hanif I;Ho RH;Karras N;Manalang M;McReynolds LJ;Nakano TA;Nalepa G;Norkin M;Oberley MJ;Orgel E;Pastore YD;Rosenthal J;Walkovich K;Larson J;Malsch M;Elghetany MT;Fleming MD;Shimamura A
通讯作者：
Shimamura A
影响因子：
20.3
作者：
Rosenberg, Philip S.;Alter, Blanche P.;Dale, David C.
通讯作者：
Dale, David C.
影响因子：
3.9
作者：
Nicolis, Elena;Bonizzato, Alberto;Cipolli, Marco
通讯作者：
Cipolli, Marco
影响因子：
10.5
作者：
Finch, Andrew J.;Hilcenko, Christine;Warren, Alan J.
通讯作者：
Warren, Alan J.