scholarly journals Favorable Outcome of Allogenic Stem Cell Transplant in Patients with Acute Myeloid Leukemia Carrying t(6;9)(p22;q34) / DEK-NUP214 Rearrangement

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5103-5103
Author(s):  
Yan Li ◽  
Jianxiang Wang ◽  
Hui Wei ◽  
Yingchang Mi ◽  
Ying Wang
Keyword(s):  
Acute Myeloid Leukemia ◽  
Stem Cell ◽  
High Frequency ◽  
Myeloid Leukemia ◽  
Stem Cell Transplant ◽  
Prognostic Impact ◽  
Cell Transplant ◽  
Allogenic Stem Cell Transplant ◽  
Acute Myeloid

Acute myeloid leukemia (AML) with t(6;9)(p22;q34) is listed as a distinct entity in the 2016 WHO Classification of Tumors of Heamatopoetic and Lymphoid Tissues, but the clinical features and prognostic impact are still not well established. We retrospectively reviewed 1620 AML patients diagnosed from the year 2013 to 2019 and 15 patients with t(6;9)(p22;q34) were identified. Their morphology, immunophenotype, cytogenetics, molecular findings, treatment and prognosis were analyzed. The incidence of AML with t(6;9)(p22;q34) is 0.9% (15/1620). There was 10 women and 5 men (ratio, 2:1) with a median age of 39 years (range:16-64). The median WBC count at diagnosis was 9.72×109/L(range: 1.78-45.4). According to French-American- British classification, 10 (66.7%) were M5 and 5 were M4. At cytogenetic level, t(6;9)(p22;q34) was the sole cytogenetic abnormality in 12 patients (80%) while 2 had one additional aberration and 1 presented with a complex karyotype. Molecular studies using next generation sequencing showed a unique mutation profile characterized by a high frequency of FLT3 mutations (10/13, 77%) including 9 cases with ITD and 1 case with TKD. Other mutations included RAS (3 NRAS and 2 KRAS) (5/13), FAT1 (4/13), NOTCH1 and PRDM1 (2/13 respectively). However, the common mutations of AML, such DNMT3A and NPM1, were rare in this subtype. The median number of mutated genes was 3 (range:1-6). Among the 9 patients with FLT3-ITD, FLT3-ITD ratio was measured in 5 patients and all showed a high ratio (median: 0.62, range: 0.59-1.11). All patients received induction chemotherapy; 12 (80%) patients achieved complete remission (CR) after one or two cycles of induction. Among these 15 patients, 7 underwent allogenic stem cell transplant (SCT) and all were alive in CR status at the last follow-up (median OS: 32.9 mon). In contrast, among the 8 patients who did not receive SCT, 5 died of disease relapse and the remaining 3 patients were newly diagnosed with a relatively short follow-up time (median OS: 10.4mon). In conclusion, t(6;9)/DEK-NUP214 AML represents a unique subtype of AML, with unique gene expression profiling (a high frequency of FLT3-ITD). Most patients can achieve CR after chemotherapy, allo-SCT can improve long term survival. Figure Disclosures No relevant conflicts of interest to declare.

scholarly journals PB2381 INFLUENCE OF THE DONOR ON THE RESULTS OF THE ALLOGENIC STEM CELL TRANSPLANT IN PATIENTS WITH ACUTE MYELOID LEUKEMIA. ROLE OF HAPLOIDENTICAL DONOR

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 1059
Author(s):  
I. García García ◽  
A. Chinea Rodríguez ◽  
F. Martín Moro ◽  
B. M. Michael Fernández ◽  
C. Nuñez-Torrón Stock ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Stem Cell ◽  
Myeloid Leukemia ◽  
Stem Cell Transplant ◽  
Cell Transplant ◽  
Allogenic Stem Cell Transplant ◽  
Acute Myeloid

Prognostic Impact of 3q21 and 3q26 Cytogenetic Abnormalities in Acute Myeloid Leukemia.

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 2594-2594
Author(s):  
Mario Annunziata ◽  
Piera Angelillo ◽  
Laura Vicari ◽  
Clelia Criscuolo ◽  
Felicetto Ferrara
Keyword(s):  
Overall Survival ◽  
Acute Myeloid Leukemia ◽  
Stem Cell ◽  
Platelet Count ◽  
Myeloid Leukemia ◽  
Median Overall Survival ◽  
Chromosome 3 ◽  
Prognostic Impact ◽  
Acute Myeloid

Abstract Abstract 2594 Background: Abnormalities affecting long arm of chromosome 3 are rare but recurrent in Acute Myeloid Leukemia (AML) and are detected in a variable percentage of AML patients according to different series. The 2008 World Health Organization classification recognizes AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) as a distinct subtype characterized by a poor prognosis. Allogeneic stem cell transplantation seems to improve outcome in eligible patients with these aberrations. Inappropriate expression of the ecotropic viral integration site 1 (EVI1) was demonstrated in virtually all patients with t(3;3)(q21;q26.2) and inv(3)(q21q26.2); as well as in a majority of patients with other 3q26 rearrangements. Other chromosome 3 abnormalities are rarely recognized in AML patients; clinical and prognostic relevance of these alterations is not yet defined. The aim of this study is to assess the prognostic impact of chromosome 3 abnormalities on disease characteristics and treatment outcome in AML. Patients and methods: A total of 580 consecutive adult patients were diagnosed with AML at our institution between February 2002 and July 2012. Conventional cytogenetic analysis performed on diagnostic bone marrow samples detected the presence of 3q abnormalities in 16 patients (2.7%). Two patients were lost to follow-up and were not evaluated for survival analysis. Molecular status of FLT3 and NPM1 was also performed and results are available for 10 patients. Median follow-up time for patients in this series was 47 months ( range 6–125). Results: There were 10 male and 6 female patients, the median age being 64.5 years (range 33–81), 10 patients had de novo AML while 6 evolved from a previously diagnosed myelodysplastic syndrome (MDS). Karyotype from MDS phase was available in 2 patients; both acquired 3q rearrangement at time of progression to AML. At time of diagnosis median haemoglobin value was 9.0 g/dL (range 4–11); median leucocyte count was 10.5 × 103̂/L (range 2.3 – 431). Median platelet count was 116 × 109̂/L (range 28 – 529), consistently with previous studies, which have shown that these patients present with higher platelet count at diagnosis when compared with no 3q rearranged ones. Regarding cytogenetic features 3 patients had t(3;3)(q21;q26), 3 patients had inv(3) (q21; q26), 3 patients showed a balanced rearrangement involving 3q26, while 6 patients harbored a del3q. One patient showed monosomy 3. Additional chromosomal changes were demonstrated in 5 patients, two of them had a complex karyotype (see Table 1), 3 had a monosomy 7. Thirteen patients out of 14 received intensive induction chemotherapy; complete remission (CR) was achieved in 5 patients (CR rate: 35.7%), the remaining 7 patients were resistant to induction as well as to salvage chemotherapy. Four patients underwent autologous stem cell transplantation. Median overall survival in this series is 5.5 months (range 0 – 20). At present only one patient is still alive and in CR, 20 months after diagnosis. Median disease free survival (DFS) for patients achieving a CR was 9 months (range 6–20). Median overall survival for patients resistant to first-line therapy was 3 months (range 0–6). Clinical features and treatment outcome of the patients are summarized in Table 1. Conclusions: The incidence of 3q abnormalities in our single institution series is 2.4%, in keeping with previous studies. Our findings confirm the association between these alterations and thrombocytosis at diagnosis, preceding MDS or multilineage dysplasia, presence in all FAB subtypes (except M3), association with additional chromosomal abnormalities as well as the poor response to conventional chemotherapy (CR rate 35.7%), and very short DFS in spite of obtaining CR. Disclosures: No relevant conflicts of interest to declare.

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