A paediatric myelodysplastic syndrome with 5q deletion associated with Fanconi anaemia

2020 ◽  
Vol 67 (7) ◽  
Author(s):  
Laure Kornreich ◽  
Jean Soulier ◽  
Béatrice Grange ◽  
Sandrine Girard ◽  
Marie Ouchée‐Chardin ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Fanconi Anaemia ◽  
5Q Deletion

scholarly journals Haematopoietic cell transplantation for acute leukaemia and advanced myelodysplastic syndrome in Fanconi anaemia

2013 ◽  
Vol 164 (3) ◽  
pp. 384-395 ◽  
Author(s):  
Richard Mitchell ◽  
John E. Wagner ◽  
Betsy Hirsch ◽  
Todd E. DeFor ◽  
Heather Zierhut ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Cell Transplantation ◽  
Acute Leukaemia ◽  
Fanconi Anaemia ◽  
Haematopoietic Cell

A decade of progress in myelodysplastic syndrome with chromosome 5q deletion

Leukemia ◽  
2018 ◽  
Vol 32 (7) ◽  
pp. 1493-1499 ◽  
Author(s):  
Alan List ◽  
Benjamin L. Ebert ◽  
Pierre Fenaux
Keyword(s):  
Myelodysplastic Syndrome ◽  
Chromosome 5Q ◽  
5Q Deletion

scholarly journals Low frequency of the glutathione-S-transferase T1-null genotype in patients with primary myelodysplastic syndrome and 5q deletion

Leukemia ◽  
2008 ◽  
Vol 22 (8) ◽  
pp. 1643-1646 ◽  
Author(s):  
C Stavropoulou ◽  
◽  
C Sambani ◽  
H Rigana ◽  
V N Georgakakos ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Low Frequency ◽  
Glutathione S Transferase ◽  
5Q Deletion

scholarly journals A Case of Refractory Thrombocytopenia with 5q Deletion: Myelodysplastic Syndrome Mimicking Idiopathic Thrombocytopenic Purpura

2014 ◽  
Vol 34 (6) ◽  
pp. 466-468
Author(s):  
Jeonghyun Chang ◽  
Chan-Jeoung Park ◽  
Eul-Ju Seo ◽  
Jung-Hee Lee ◽  
Sang Hyuk Park ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Idiopathic Thrombocytopenic Purpura ◽  
Thrombocytopenic Purpura ◽  
5Q Deletion

scholarly journals Effect of lenalidomide therapy on hematopoiesis of patients with myelodysplastic syndrome associated with chromosome 5q deletion

Haematologica ◽  
2009 ◽  
Vol 95 (3) ◽  
pp. 406-414 ◽  
Author(s):  
M. Ximeri ◽  
A. Galanopoulos ◽  
M. Klaus ◽  
A. Parcharidou ◽  
K. Giannikou ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Chromosome 5Q ◽  
5Q Deletion

scholarly journals Lenalidomide combined with intensive chemotherapy in acute myeloid leukemia and higher-risk myelodysplastic syndrome with 5q deletion. Results of a phase II study by the Groupe Francophone Des Myélodysplasies

Haematologica ◽  
2016 ◽  
Vol 102 (4) ◽  
pp. 728-735 ◽  
Author(s):  
Lionel Ades ◽  
Thomas Prebet ◽  
Aspasia Stamatoullas ◽  
Christian Recher ◽  
Romain Guieze ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myelodysplastic Syndrome ◽  
Phase Ii ◽  
Myeloid Leukemia ◽  
Phase Ii Study ◽  
Intensive Chemotherapy ◽  
5Q Deletion ◽  
Acute Myeloid

scholarly journals Durable Hematological and Major Cytogenetic Response in a Patient with Isolated 20q Deletion Myelodysplastic Syndrome Treated with Lenalidomide

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Bagi Jana ◽  
Anas Khanfar ◽  
Mary Ninan
Keyword(s):  
Myelodysplastic Syndrome ◽  
Myeloid Leukemia ◽  
Significant Risk ◽  
Cytogenetic Response ◽  
Antiangiogenic Activity ◽  
Meaningful Activity ◽  
Chromosome 5Q ◽  
Risk Of Progression ◽  
Bone Marrow Disorder ◽  
5Q Deletion

Myelodysplastic syndrome (MDS) is a clonal bone marrow disorder characterized by ineffective hematopoiesis. It is characterized by peripheral blood cytopenia and significant risk of progression to acute myeloid leukemia result. Deletion of the long arm of chromosome 20 (20q deletion) is present in 3–7% of patients with MDS. Lenalidomide is an immunomodulatory agent with antiangiogenic activity. It is FDA approved for the treatment of anemia in patients with low or int-1 risk MDS with chromosome 5q deletion with or without additional cytogenetic abnormalities. Study of lenalidomide in patients with MDS without 5q deletion but other karyotypic abnormalities demonstrated meaningful activity in transfusion dependent patients; however, response of patients with isolated 20q deletion to lenalidomide is not known. We are reporting a patient with 20q deletion MDS treated with lenalidomide after he failed to respond to azacytidine; to our knowledge this is the first report of a patient with isolated 20q deletion treated with lenalidomide.

scholarly journals Lenalidomide promotes p53 degradation by inhibiting MDM2 auto-ubiquitination in myelodysplastic syndrome with chromosome 5q deletion

Oncogene ◽  
2012 ◽  
Vol 32 (9) ◽  
pp. 1110-1120 ◽  
Author(s):  
S Wei ◽  
X Chen ◽  
K McGraw ◽  
L Zhang ◽  
R Komrokji ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Chromosome 5Q ◽  
5Q Deletion

scholarly journals Durable response to lenalidomide in a patient with myelodysplastic syndrome associated with isolated 5q deletion and JAK2 V617F mutation despite discontinuation of treatment

2016 ◽  
Vol 5 (1) ◽  
pp. 23-26 ◽  
Author(s):  
ELEFTHERIA HATZIMICHAEL ◽  
KONSTANTINOS LAGOS ◽  
AMALIA VASSOU ◽  
DORA GOUGOPOULOU ◽  
ALEXANDRA PAPOUDOU-BAI ◽  
...  
Keyword(s):  
Myelodysplastic Syndrome ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Durable Response ◽  
Discontinuation Of Treatment ◽  
V617f Mutation ◽  
5Q Deletion

Lenalidomide As a Second-Line Therapy after Failure of Hypomethylating Agents in Patients with Myelodysplastic Syndrome

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 1687-1687 ◽  
Author(s):  
Hawk Kim ◽  
Je-Hwan Lee ◽  
Won-Sik Lee ◽  
Inho Kim ◽  
Joon Ho Moon ◽  
...  
Keyword(s):  
Overall Survival ◽  
Myelodysplastic Syndrome ◽  
Research Funding ◽  
Who Classification ◽  
Median Overall Survival ◽  
Hematopoietic Cell Transplantation ◽  
Objective Response ◽  
Primary Objective ◽  
Hypomethylating Agents ◽  
5Q Deletion

Abstract Background: There is no standard therapy after the failure of hypomethylating agents (HMAs) in myelodysplastic syndrome (MDS) without only providing supportive cares including transfusion or cytokine therapies when the patient is not eligible for allogeneic hematopoietic cell transplantation. Lenalidomide is the treatment of choice in case of MDS with 5q deletion. A study of lenalidomide for non-5q deletion MDS patients showed that transfusion independency rate was 26% which was relatively acceptable and suggested that lenalidomide could be used for non-5q deletion MDS patients. Method: We conducted the prospective phase II trial to evaluate the efficacy of lenalidomide for patients who failed to HMA (ClinicalTrials.gov Identifier: NCT01673308). Patients took lenalidomide 10mg daily for 3 weeks and rested for a week. New cycle began every 4 weeks. The primary objective was the objective response rate (ORR; CR+PR+marrow CR+HI). Unknown or not evaluable response were regarded as failure. The planed sample size was 29 (P0: 10%, P1: 30%, α-error:0.5, β-error:0.2) patients. The major inclusion criteria were adult MDS by WHO classification and they should be treatment failure after HMAs (azacitidine or decitabine) which were defined as either intolerant to HMAs or progressive disease after HMA. Results: Total 31 patients were included in this analysis. Among them, 1 patient didn't receive study drug at all. Male was 21 (67.7%) patients. Median age was 68 (range 40-82) years. Reasons for stopping HMA were no response in 10, progression in 14, adverse events in 3 and other causes in 4 patients. WHO classification was follows; RA in 4, RARS in 1, RCMD in 8, RAEB-1 in 4, RAEB-2 in 8, MDS with 5q deletion in 2 and not known in 4 patients. IPSS at study enrollment were low (n=4), INT-1 (n=12), INT-2 (n=9), high risk (n=3) and unknown (n=3) risk. Revised IPSS were very low (n=3), low (n=3), intermediate (n=5), poor (n=2), very poor (n=8) and unknown risk (n=3). Median cycles of lenalidomide was 3 (range 0-21). The responses after 4 cycles were CR in 5, PR in 2, SD in 5, failure in 12, unknown in 7 patients. The maximal responses were CR in 5, marrow CR in 1, PR in 4, HI-E in 1, SD in 5, failure in 14 patients. Best ORR was 11/31 (35.5%) patients, with 16/31 receiving clinical benefit (52%, inclusive of SD). The toxicity profile was tolerable except for hematological toxicities including neutropenia and thrombocytopenia. Among 2 patients with 5q deletion, 1 patient achieved CR but 1 patient failed. Median overall survival was 8.936 (95% CI 0.0-19.685) months which compares with a historical estimate in HMA failures of 4.3-5.6 months. Two patients received alloHCT after progression or failure to lenalidomide. Causes of death were infection (n=8) and bleeding (n=1). Patients who failed to benefit from lenalidomide showed significantly poorer survival when comparing with patients who achieved ORR or SD (median overall survival 2.990 vs. 17.774 months; p=0.010). Among 17 patients who had achieved ORR or SD, 6 patients didn't progress while 8 patients progressed and 3 patients were lost to follow up. Conclusion: Lenalidomide showed reasonable response and excellent overall survival after failure of HMA in adult MDS with tolerable toxicities. Therefore, lenalidomide can be a promising option after failure of HMA even in non-5q deletion MDS. Disclosures Kim: Alexion Pharmaceuticals: Research Funding; Celgene: Research Funding; Il-Yang: Research Funding; Novartis: Research Funding. Choi:Alexion Pharmaceuticals: Research Funding.

Sign in / Sign up

Export Citation Format

Share Document