Atypical chronic myeloid leukemia (aCML) is a rare MDS/MPN disease characterized by the absence of BCR::ABL1 rearrangement and well known typical mutations associated with myeloproliferative disorders. Mutational landscape associated with this disease was recently described with frequent involvement of SETBP1 and ETNK1 mutations. CCND2 mutations have not been frequently detected in MPN or MDS/MPN patients. We describe two cases of aCML with two CCND2 mutations in 280 and 281 codons which rapidly develop progressive characteristics, and we reviewed the literature about this unfavorable association, suggesting a role as a new possible marker of aggressive disease.
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases / Iaquinta, G.; Scalzulli, E.; Angeloni, S.; Carmosino, I.; Costa, A.; Ielo, C.; Passucci, M.; Masucci, C.; Grammatico, P.; Breccia, M.; Martelli, M.. - In: LEUKEMIA & LYMPHOMA. - ISSN 1042-8194. - (2023), pp. 1-3. [10.1080/10428194.2023.2232495]
CCND2 mutations in atypical chronic myeloid leukemia: a report of two cases
Iaquinta G.;Scalzulli E.;Carmosino I.;Ielo C.;Passucci M.;Grammatico P.;Breccia M.;Martelli M.
2023
Abstract
Atypical chronic myeloid leukemia (aCML) is a rare MDS/MPN disease characterized by the absence of BCR::ABL1 rearrangement and well known typical mutations associated with myeloproliferative disorders. Mutational landscape associated with this disease was recently described with frequent involvement of SETBP1 and ETNK1 mutations. CCND2 mutations have not been frequently detected in MPN or MDS/MPN patients. We describe two cases of aCML with two CCND2 mutations in 280 and 281 codons which rapidly develop progressive characteristics, and we reviewed the literature about this unfavorable association, suggesting a role as a new possible marker of aggressive disease.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
