Chronic myeloid leukemia, <scp>BCR</scp>‐<scp>ABL</scp>1‐positive with <scp>CALR</scp> and <scp>MPL</scp> mutations

Klairmont, Matthew M; Cheng, Jinjun; Schwartzberg, Lee S.; Ho, Hao; Gradowski, Joel F.

doi:10.1111/ijlh.12792

Cited by 7 publications

(9 citation statements)

References 10 publications

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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%

“…In 9/24 cases (37.5%), CML was the second diagnosis preceded by Ph-negative MPNs ( Bonzheim et al, 2015 ; Kandarpa et al, 2017 ; Boddu et al, 2018 ; De Roeck et al, 2018 ; Klairmont et al, 2018 ; Liu et al, 2020 ; Sobieralski et al, 2022 ), represented by four ET; three PMF; one MPN, NOS; and one post-essential thrombocythemia myelofibrosis (PET-MF).…”

Section: Results Of Literature Cases and The Present Casementioning

confidence: 99%

“…In the group with CML emerging as the second disease after Ph-negative MPN, the clinical manifestations at CML occurrence were as follows: high WBC in 9/9 ( Bonzheim et al, 2015 ; Kandarpa et al, 2017 ; Boddu et al, 2018 ; De Roeck et al, 2018 ; Klairmont et al, 2018 ; Xia et al, 2019 ; Liu et al, 2020 ; Sobieralski et al, 2022 ), anemia in 3/9 ( Kandarpa et al, 2017 ; Boddu et al, 2018 ; Xia et al, 2019 ), high PTL 1/9 ( De Roeck et al, 2018 ), low PTL in 1/9 ( Boddu et al, 2018 ), increasing splenomegaly in 5/9 ( Kandarpa et al, 2017 ; Boddu et al, 2018 ; Liu et al, 2020 ; Sobieralski et al, 2022 ), hepatomegaly in 1/9 ( Boddu et al, 2018 ), and fatigue and abdominal pain in 1/9 ( De Roeck et al, 2018 ).…”

Section: Results Of Literature Cases and The Present Casementioning

confidence: 99%

“…In the group with Ph-negative MPN preceding CML (9/24 cases), at presentation of first disease (Ph-negative MPN), BM histology was available in 6/9 cases, and it was consistent with either PMF (3/6) ( Boddu et al, 2018 ; Sobieralski et al, 2022 ), ET (2/6) ( Bonzheim et al, 2015 ; Liu et al, 2020 ), and MPN, NOS (1/6) ( Klairmont et al, 2018 ). In this group, at the occurrence of CML, BM histological features were available in 7/9 cases as follows: CML (CP) histology in 1/7 ( Bonzheim et al, 2015 ), CML + fibrosis in 3/7 ( Klairmont et al, 2018 ; Liu et al, 2020 ; Sobieralski et al, 2022 ), and CML + fibrosis + hybrid MKs in 3/7 ( Boddu et al, 2018 ; Xia et al, 2019 ).…”

Section: Results Of Literature Cases and The Present Casementioning

confidence: 99%

“…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%

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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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