“Chronic myelogenous leukemia in primary blast crisis” rather than “de novo BCR‐ABL1‐positive acute myeloid leukemia”

Abstract

Key Clinical MessageDifferentiating chronic myelogenous leukemia in primary blast crisis (CML‐BC) from de novo BCR‐ABL1‐positive acute myeloid leukemia (AML) is a diagnostic challenge with therapeutic consequences. In our case, a basophilia, the presence of the Philadelphia chromosome in all metaphases and the strict exclusion of molecular hallmarks of AML lead us to retain the diagnosis of CML‐BC rather than BCR‐ABL1+ AML.

BCR-ABL1 positive AML or CML in blast crisis? A pediatric case report with inv(3) and t(9;22) in the initial clone

“…The t(9;22)/ BCR-ABL1 fusion leads to a permanently activated tyrosine kinase, which results in an unregulated cell division [2] . However, CML patients represent a distinct exception in this physiopathology in comparison to BCR-ABL1 positive AML patients: BCR-ABL1 fusion is the main driver event and sufficient to initiate the disease [21] . The overexpression of MECOM ( EVI1 ) in clonal evolution in CML patients leads to a BCR-ABL1 independent oncogenic pathway.…”

An interesting case of chronic myeloid leukemia (CML) with T315I mutation raising suspicion of de novo AML, a diagnostic conundrum

“…Studies have also revealed that de novo AML with BCR/ABL1 has more prevalence of fusion protein 190 and NPM1 mutation in contrast to Ph+CML and also possess different treatment and prognostic value than CML with BCR/ABL1 in blast phase 8 . After a thorough literature search, we managed to execute a table to guide the CML‐BP and de novo gene AML,Table 2 5,6,8,9 …”

An interesting case of chronic myeloid leukemia (CML) with T315I mutation raising suspicion of de novo AML, a diagnostic conundrum.

“…AML with BCR/ABL+ is considered to carry a worse prognosis, and hence its management approach is different from CML-BP [4]. There are overlapping clinical features between BCR-ABL + AML and myeloid CML blast crisis; moreover, there are no definite clinical criteria established yet to distinguish among these entities [4,5]. The involvement of molecular markers such as IKZF1, CDKN2A, and antigen receptor gene deletions in IGH or TRG2 can distinguish between de novo BCR-ABL + AML from myeloid blast crisis of CML [1,2].…”

“…The involvement of molecular markers such as IKZF1, CDKN2A, and antigen receptor gene deletions in IGH or TRG2 can distinguish between de novo BCR-ABL + AML from myeloid blast crisis of CML [1,2]. Certain other reported clinical features in the literature can also guide in this diagnostic dilemma, as mentioned in the table: 2; however, they may not be seen in every case [5,6].…”