Cancer Res Treat.  2020 Jul;52(3):987-991. 10.4143/crt.2019.703.

Philadelphia+ Chronic Myeloid Leukemia with CALR Mutation: A Case Report and Literature Review

• Yoon SY
• Jeong SY
• Kim C
• Lee MY
• Kim J
• Kim KH
• Lee N
• Won JH

• KMID: 2504476
• DOI: http://doi.org/10.4143/crt.2019.703

Abstract

Myeloproliferative neoplasms (MPNs) are classified as chronic myeloid leukemia (CML) and Philadelphia chromosome-negative MPN. In MPN cases, the presence of a BCR-ABL1 translocation with a coexisting mutation is exceptionally rare. Herein, we report the first documented patient with CML harboring CALR mutation in Korea. A 33-year-old woman was referred to our hospital in February 2015 with splenomegaly, leukocytosis, and thrombocytosis. She was diagnosed with CML and started receiving nilotinib. In October 2015, a major molecular response was observed, but thrombocytosis persisted. A repeat bone marrow (BM) examination revealed no specific findings. However, as thrombocytosis worsened, we changed nilotinib to dasatinib. In May 2019, owing to persistent thrombocytosis, we repeated the BM examination and found CALR mutation (15.97%) on the MPN–next generation sequencing (NGS) test. We then retrospectively performed repeat MPN-NGS testing using the BM aspirate sample obtained in 2015 and found CALR mutation (10.64%).

Keyword

Myeloproliferative disorder; Philadelphia chromosome; Calreticulin

Figure

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  Fig. 1. White blood cell (WBC) and platelet counts during follow-up of a patient with chronic myeloid leukemia over the course of treatment.

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  Fig. 2. BCR-ABL1 transcript levels during follow-up of a patient with chronic myeloid leukemia over the course of treatment.

Reference

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