Philadelphia-positive de novo myelodysplastic syndrome: A new entity with review of literature

2021 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Rashmi Kushwaha ◽  
SP Verma ◽  
Geeta Yadav
2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
T. Couture ◽  
K. Amato ◽  
A. DiAdamo ◽  
P. Li

Jumping translocations of 1q refer to the break-off of chromosome 1q as a donor fusing to two or more recipient chromosomes. We detected jumping translocations of 1q in three patients with initial diagnosis of myelodysplastic syndrome (MDS) and later progression to acute myeloid leukemia (AML). Review of literature found jumping translocations of 1q in 30 reported cases of MDS and AML. The cytogenetic findings from these 33 cases showed that seven cases had a stemline clone and 26 cases had de novo jumping translocations of 1q in which 5% of cell lineages had additional structural rearrangements. In 75% of cases, the 1q donor jumped to the short arm of recipient acrocentric chromosomes. Approximately 82% of the fusions occurred in the telomeric regions of short and long arms and 18% occurred in the pericentric or interstitial regions of recipient chromosomes. Hypomethylation of the donor 1q pericentromeric region and shortened telomeres in recipient chromosomes were associated with the formation of jumping translocations. Jumping translocations of 1q as an indication of chromosomal instability pose high risk for progression of MDS to AML and a poor prognosis. Further understanding of underlying genomic defects and their clinical significance will improve overall treatment and patient care.


Haematologica ◽  
2011 ◽  
Vol 97 (4) ◽  
pp. 534-537 ◽  
Author(s):  
A. Rio-Machin ◽  
J. Menezes ◽  
A. Maiques-Diaz ◽  
X. Agirre ◽  
B. I. Ferreira ◽  
...  

2015 ◽  
Vol 37 (3) ◽  
pp. 345-348 ◽  
Author(s):  
Ranganath Ramarao Kulkarni ◽  
Bhavya K. Bairy

Gene Reports ◽  
2016 ◽  
Vol 4 ◽  
pp. 208-212 ◽  
Author(s):  
Abdulsamad Wafa ◽  
Manar As'sad ◽  
Thomas Liehr ◽  
Abdulmunim Aljapawe ◽  
Walid AL-Achkar

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 427-434 ◽  
Author(s):  
Dorothy R. Barnard ◽  
Beverley Lange ◽  
Todd A. Alonzo ◽  
Jonathan Buckley ◽  
J. Nathan Kobrinsky ◽  
...  

Abstract There has not been a reported series of children with therapy-induced myelodysplastic syndrome/acute myeloid leukemia (tMDS/tAML) who were treated systematically. This paper describes 24 children with tMDS/tAML who were assigned randomly to standard- or intensive-timing induction on protocol CCG 2891. Presenting features and outcomes of those children were compared with those of 960 patients with de novo MDS (62 patients) or AML (898 patients). Children with tMDS/tAML were older at presentation (P = .015), had lower white blood cell counts (P = .01), and were more likely to have MDS (21% vs 7%) (P = .02) and trisomy 8 (P = .06). Fewer had hepatomegaly (P = .02), splenomegaly (P = .03), hepatosplenomegaly (P = .02), or classic AML translocations [t(8;21), t(15;17), 16q22; P = .02]. They had a poorer induction rate (50% vs 72%,P = .016), overall survival (26% vs 47% at 3 years,P = .007), and event-free survival (21% vs 39% at 3 years, P =.023). Disease-free survival after achieving remission was similar (45% vs 53%, P = .868). Children with tMDS/tAML who received intensive-timing induction had better outcomes than those who received standard-timing induction (overall survival 32% vs 0%, P = .54). In this study, the latency period to development of tMDS/tAML was the same for presumed alkylator-induced as for topoisomerase-induced myeloid leukemia. The findings of this study confirm that most children with tMDS/tAML have disease resistant to current therapies. Standard-timing induction appears less effective for this population.


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