Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review

被引：5

作者：

Cardoso, Leila ^{[1
]}

Galan-Gomez, Victor ^{[2
]}

Dolores Corral-Sanchez, Maria ^{[2
]}

Perez-Martinez, Antonio ^{[1
,2
]}

Riesco, Susana ^{[3
]}

Isidoro-Garcia, Maria ^{[4
]}

Escudero, Adela ^{[1
,5
]}

机构：

[1] Hosp La Paz, Translat Res Pediat Oncol, Hematopoiet Transplantat & Cell Therapy, Inst Hlth Res INGEMM IdiPAZ, Madrid, Spain

[2] La Paz Univ Hosp, Paediat Haematol & Oncol Serv, Madrid, Spain

[3] Univ Hosp Salamanca, Dept Paediat Oncohaematol, Salamanca, Spain

[4] Univ Hosp Salamanca, Clin Biochem Dept, Salamanca, Spain

[5] La Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Madrid, Spain

来源：

CLINICAL CASE REPORTS | 2021年 / 9卷 / 05期

关键词：

CBL syndrome; hemophagocytic lymphohistiocytosis; juvenile myelomonocytic leukemia; splicing mutations; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SPECTRUM; FEATURES; DISEASE;

D O I：

10.1002/ccr3.4260

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The clinical and laboratory criteria for hemophagocytic lymphohistiocytosis should be taken into account during the juvenile myelomonocytic leukemia diagnosis, specifically in CBL syndrome, to reveal the presence of primary rather than secondary associated hemophagocytosis.

引用

页数：6

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