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

Yoon, Seug Yun; Jeong, Sun Young; Kim, Changgon; Lee, Min Young; Kim, Jieun; Kim, Kyoung-Ha; Lee, Nam-Su; Won, Jong-Ho

doi:10.4143/crt.2019.703

Cited by 7 publications

(13 citation statements)

References 15 publications

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“…However, regardless of the BCR::ABL1 level, the mutant CALR allele burden remained stable from diagnosis to follow-up visit. Similar to the patient in this case, Yoon et al 23 reported that the major MR was reached after using nilotinib, but the PLT count remained high. After switching to dasatinib, the thrombocytosis got worse and CALR mutations were discovered in primary material.…”

supporting

confidence: 83%

BCR::ABL1‐positive chronic myeloid leukaemia with CALR mutation

Geng

Zheng

Wang

2023

Clin Exp Pharma Physio

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According to the 'revision of the 2016 WHO classification of myeloid neoplasm and acute leukaemia', 1 the diagnosis of polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) requires the exclusion of chronic myeloid leukaemia (CML).Calreticulin (CALR) mutation was mainly found in ET and PMF, [2][3][4][5][6] which was negative for both Janus kinase 2 (JAK2) and myeloproliferative leukaemia protein (MPL). The coexistence of BCR::ABL1 and CALR is very rare (Table 1), and the pathogenesis is unclear with no more than 20 cases have been reported. 17 In this case report, we describe a co-occurrence of CALR mutation and BCR::ABL1-positive CML.The 72-year-old male was referred to our hospital in May 2020, with a history of fatigue and splenomegaly. His blood analysis revealed a white blood cell (WBC) count of 61.8 Â 10 9 L (including 21% of myeloid immature cells), a platelet (PLT) count of 660 Â 10 9 L,

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supporting

confidence: 83%

BCR::ABL1‐positive chronic myeloid leukaemia with CALR mutation

Geng

Zheng

Wang

2023

Clin Exp Pharma Physio

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“…Including our case, a total of 24 cases with concomitant BCR::ABL1 and CALR mutation have been described so far ( Bonzheim et al, 2015 ; Cabagnols et al, 2015 ; Loghavi et al, 2015 ; Diamond et al, 2016 ; Seghatoleslami et al, 2016 ; Dogliotti et al, 2017 ; Gilles et al, 2017 ; Kandarpa et al, 2017 ; Blouet et al, 2018 ; Boddu et al, 2018 ; De Roeck et al, 2018 ; Klairmont et al, 2018 ; Lewandowski et al, 2018 ; Xia et al, 2019 ; Balducci et al, 2020 ; Da Costa et al, 2020 ; Guidotti et al, 2020 ; Liu et al, 2020 ; Yoon et al, 2020 ; Sobieralski et al, 2022 ; Huo et al, 2023 ).…”

Section: Results Of Literature Cases and The Present Casementioning

confidence: 96%

“…The association of CALR mutations with BCR::ABL1 rearrangement is much rarer, being reported in isolated cases. In this article, we described a case from our daily practice with a long history of CALR -mutated PMF, subsequently developing CML with gaining of BCR::ABL1 rearrangement; meanwhile, through a literature search, we identified 23 cases harboring both CALR mutation and BCR::ABL1 rearrangement ( Bonzheim et al, 2015 ; Cabagnols et al, 2015 ; Loghavi et al, 2015 ; Diamond et al, 2016 ; Seghatoleslami et al, 2016 ; Dogliotti et al, 2017 ; Gilles et al, 2017 ; Kandarpa et al, 2017 ; Blouet et al, 2018 ; Boddu et al, 2018 ; De Roeck et al, 2018 ; Klairmont et al, 2018 ; Lewandowski et al, 2018 ; Xia et al, 2019 ; Balducci et al, 2020 ; Da Costa et al, 2020 ; Guidotti et al, 2020 ; Liu et al, 2020 ; Yoon et al, 2020 ; Sobieralski et al, 2022 ; Huo et al, 2023 ).…”

Section: Introductionmentioning

confidence: 99%

Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR::ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease

Zanelli,

Fragliasso,

Loscocco

et al. 2024

Front. Cell Dev. Biol.

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Myeloproliferative neoplasms (MPNs) are subdivided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. BCR::ABL1 translocation is essential for the development and diagnosis of CML; on the other hand, the majority of Ph-negative MPNs are characterized by generally mutually exclusive mutations of Janus kinase 2 (JAK2), calreticulin (CALR), or thrombopoietin receptor/myeloproliferative leukemia (MPL). CALR mutations have been described essentially in JAK2 and MPL wild-type essential thrombocythemia and primary myelofibrosis. Rarely coexisting CALR and MPL mutations have been found in Ph-negative MPNs. BCR::ABL1 translocation and JAK2 mutations were initially considered mutually exclusive genomic events, but a discrete number of cases with the combination of these genetic alterations have been reported. The presence of BCR::ABL1 translocation with a coexisting CALR mutation is even more uncommon. Herein, starting from a routinely diagnosed case of CALR-mutated primary myelofibrosis subsequently acquiring BCR::ABL1 translocation, we performed a comprehensive review of the literature, discussing the clinicopathologic and molecular features, as well as the outcome and treatment of cases with BCR::ABL1 and CALR co-occurrence.

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“…Therefore, in case of persistent thrombocytosis without leukocytosis and negative driver mutations, BCR::ABL1 will be researched to avoid missing atypical presentation of CML. Although, classical driver mutations are mutually exclusive, rare cases of CML with JAK2 or CALR mutations have been observed [ 44 , 102 , 103 ]. The temporal sequence of these mutations is variable suggesting that the alterations might reside in the same or distinct clones [ 40 , 42 , 43 ].…”

Section: Bcr::abl1 -Positive Mpn: Chronic Myeloid Leukemia (...mentioning

confidence: 99%

Cytological Diagnosis of Classic Myeloproliferative Neoplasms at the Age of Molecular Biology

Combaluzier¹,

Quessada

Abbou

et al. 2023

Cells

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Myeloproliferative neoplasms (MPN) are clonal hematopoietic stem cell-derived disorders characterized by uncontrolled proliferation of differentiated myeloid cells. Two main groups of MPN, BCR::ABL1-positive (Chronic Myeloid Leukemia) and BCR::ABL1-negative (Polycythemia Vera, Essential Thrombocytosis, Primary Myelofibrosis) are distinguished. For many years, cytomorphologic and histologic features were the only proof of MPN and attempted to distinguish the different entities of the subgroup BCR::ABL1-negative MPN. World Health Organization (WHO) classification of myeloid neoplasms evolves over the years and increasingly considers molecular abnormalities to prove the clonal hematopoiesis. In addition to morphological clues, the detection of JAK2, MPL and CALR mutations are considered driver events belonging to the major diagnostic criteria of BCR::ABL1-negative MPN. This highlights the preponderant place of molecular features in the MPN diagnosis. Moreover, the advent of next-generation sequencing (NGS) allowed the identification of additional somatic mutations involved in clonal hematopoiesis and playing a role in the prognosis of MPN. Nowadays, careful cytomorphology and molecular biology are inseparable and complementary to provide a specific diagnosis and to permit the best follow-up of these diseases.

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

Cited by 7 publications

References 15 publications

BCR::ABL1‐positive chronic myeloid leukaemia with CALR mutation

BCR::ABL1‐positive chronic myeloid leukaemia with CALR mutation

Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR::ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease

Cytological Diagnosis of Classic Myeloproliferative Neoplasms at the Age of Molecular Biology

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