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- Title
A novel type of +2-base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm.
- Authors
Hyun-Young Kim; Jong-Won Kim; Sun-Hee Kim; Myung Hee Chang; Hee-Jin Kim
- Abstract
Somatic CALR mutations have been identified in the majority of JAK2 mutation-negative essential thrombocythaemia (ET) and primary myelofibrosis. Almost all CALR mutations have been reported to typically generate a +1-base pair (bp) frameshift in the open reading frame. Here, we describe an ET patient with a +2-bp frameshift CALR mutation. A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET. After 4 years, his disease progressed to post-ET myelofibrosis, and CALR mutation analysis demonstrated a +2-bp frameshift CALR mutation caused by two different CALR mutations, c.1139_1151del and c.1211_1215delinsTTGA, on the same allele. The resultant mutant protein sequence shared 19 amino acids with those from type 1 and type 2 CALR mutations, but the downstream C-terminal sequences were different. To our knowledge, CALR double mutations causing +2-bp frameshift are extremely rare. Identification of this novel type of CALR mutation has potential implications for better understanding of CALR oncogenesis.
- Subjects
FRAMESHIFT mutation; MYELOPROLIFERATIVE neoplasms; MYELOFIBROSIS; OPEN reading frames (Genetics); CARCINOGENESIS; PATIENTS
- Publication
European Journal of Haematology, 2018, Vol 101, Issue 2, p216
- ISSN
0902-4441
- Publication type
Article
- DOI
10.1111/ejh.13076