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Objective: To observe the clinical characteristics, treatment responses and prognosis of patients with myelodysplastic syndrome (MDS) -del (5q) syndrome who met WHO (2016) diagnostic typing criteria. Methods: A total of 77 patients with del (5q) syndrome, according to WHO (2016) classification, were retrospectively analyzed between January 2008 and April 2018 in the Blood Diseases Hospital, Chinese Academy of Medical Sciences. Clinical characteristics, lenalidomide (LEN) efficacy and survivals were compared between the patients with del (5q) alone and those with one additional cytogenetic abnormality (ACA) with the exception of monosomy 7 or del (7q) . Treatment response and overall survival (OS) were compared between patients who were treated with LEN and traditional non-LEN drugs. Results: Of 77 patients, 64 were isolated del (5q) and 13 were del (5q) with ACA. There were significant differences of the median age and percentage of patients who had small megakaryocytes in bone marrow smear by immunohistochemistry (CD41) between the patients with isolated del (5q) and the patients with del (5q) + ACA[58 (29-64) years old vs 63 (31-82) years old, z=2.164, P=0.030; and 91.7%vs 60.0%, P=0.046, respectively]. The overall hematological response rate (78.9%vs 80.0%) , complete hematological remission (CR) rate (57.9% vs 60.0%) , cytogenetic response (CyR) rate[69.2% (9/13) vs 66.7% (4/6) ] and complete cytogenetic response (CCyR) rate [61.5% (8/13) vs 33.3% (2/6) ] of LEN were similar between the patients with isolated del (5q) (n=19) and with del (5q) + ACA (n=10) , as well as the median Overall survival (OS) between these two groups of patients (62 months vs 78 months, P=0.388) . The hematological response rate (79.3% vs 36.0%) , CR rate (58.6% vs 8.0%) , CyR rate [68.4% (13/19) vs 11.1% (1/9) ] and CCyR rate [52.6% (10/19) vs 0 (0/9) ] were higher among patients treated with LEN (n=29) than those treated with non-LEN therapy (n=25) . There was no statistically significant difference in OS between the patients with LEN or non-LEN therapy (78 months vs 62 months, P=0.297) . Conclusion: Comparing del (5q) syndrome patients with isolated del (5q) or with del (5q) + ACA, two groups of patients had similar clinical characteristics, median OS and LEN efficacy. LEN showed better treatment response than traditional drugs in patients with del (5q) syndrome.
Subject(s)
Adult , Aged , Aged, 80 and over , Humans , Middle Aged , Anemia, Macrocytic , Lenalidomide , Myelodysplastic Syndromes , Retrospective Studies , ThalidomideABSTRACT
Objective@#To observe the clinical characteristics, treatment responses and prognosis of patients with myelodysplastic syndrome (MDS) -del (5q) syndrome who met WHO (2016) diagnostic typing criteria.@*Methods@#A total of 77 patients with del (5q) syndrome, according to WHO (2016) classification, were retrospectively analyzed between January 2008 and April 2018 in the Blood Diseases Hospital, Chinese Academy of Medical Sciences. Clinical characteristics, lenalidomide (LEN) efficacy and survivals were compared between the patients with del (5q) alone and those with one additional cytogenetic abnormality (ACA) with the exception of monosomy 7 or del (7q) . Treatment response and overall survival (OS) were compared between patients who were treated with LEN and traditional non-LEN drugs.@*Results@#Of 77 patients, 64 were isolated del (5q) and 13 were del (5q) with ACA. There were significant differences of the median age and percentage of patients who had small megakaryocytes in bone marrow smear by immunohistochemistry (CD41) between the patients with isolated del (5q) and the patients with del (5q) + ACA[58 (29-64) years old vs 63 (31-82) years old, z=2.164, P=0.030; and 91.7%vs 60.0%, P=0.046, respectively]. The overall hematological response rate (78.9%vs 80.0%) , complete hematological remission (CR) rate (57.9% vs 60.0%) , cytogenetic response (CyR) rate[69.2% (9/13) vs 66.7% (4/6) ] and complete cytogenetic response (CCyR) rate [61.5% (8/13) vs 33.3% (2/6) ] of LEN were similar between the patients with isolated del (5q) (n=19) and with del (5q) + ACA (n=10) , as well as the median Overall survival (OS) between these two groups of patients (62 months vs 78 months, P=0.388) . The hematological response rate (79.3% vs 36.0%) , CR rate (58.6% vs 8.0%) , CyR rate [68.4% (13/19) vs 11.1% (1/9) ] and CCyR rate [52.6% (10/19) vs 0 (0/9) ] were higher among patients treated with LEN (n=29) than those treated with non-LEN therapy (n=25) . There was no statistically significant difference in OS between the patients with LEN or non-LEN therapy (78 months vs 62 months, P=0.297) .@*Conclusion@#Comparing del (5q) syndrome patients with isolated del (5q) or with del (5q) + ACA, two groups of patients had similar clinical characteristics, median OS and LEN efficacy. LEN showed better treatment response than traditional drugs in patients with del (5q) syndrome.
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Introduction: Myeloproliferative neoplasms with PDGFRA, PDGFRB and FGFR1 rearrangements are reported to be very rare entities. Myeloid neoplasms with PDGFRB rearrangement have prominent eosinophilia, neutrophilia or monocytosis and presence of t (5;12)(q31~q33;p12-13) or variant translocation. Case Report: We report a 55 years old female patient who presented with eosinophilia along with predominant eosinophil precursors on bone marrow and concomitant isolated del (5q) and PDGFRB gene rearrangement which is an infrequent and rare finding. Conclusion: isolated acquired deletion of the long arm of chromosome 5 (del 5q) also known as 5q- syndrome, is a distinct hematologic disorder reported to be primary myelodys plastic syndrome which is found in females of middle age and usually presents with macrocytic anemia, oval macrocytes, with white blood cell counts normal or reduced, platelet counts normal or elevated and bone marrow exhibitery throid hypoplasia with megakaryocytes showing hypolobated nuclei
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Whereas deletions involving the long arm of chromosome 5 are among the most common chromosomal abnormalities in myelodysplastic syndrome (MDS), isolated del(5q) MDS, which includes the 5q- syndrome, is rare and characterized by hypoplastic anemia and a moderate risk of transformation to acute myeloid leukemia (AML). The 5q- syndrome is now recognized as a ribosomopathy, and both the classic 5q- syndrome and del(5q) MDS are uniquely responsive to lenalidomide. However, the mechanism of action of lenalidomide is controversial and involves modulation of p53 activity, which may be beneficial in anemia remission but suggested to lead to malignant cell outgrowth. Here, we critically review the literature on this important controversy, which has obvious implications for therapy of del (5q) MDS.
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Del(5)(q) is a common chromosomal abnormality with favourable prognosis in Myelodysplastic Syndrome (MDS) and Acute myeloid leukemia (AML). However, del(5)(q) is also seen rarely in Acute lymphoblastic leukemia (ALL) and its significance remains poorly understood. We present here, a case report of diagnosis of an adult 75 year old patient of ALL with a cytogenetic abnormality of del(5)(q32). His clinical features, morphology and immunophenotyping findings were suggestive of T-ALL. Relevant literature has been reviewed and discussed.
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BACKGROUND: Cytogenetic study is important in prediction of prognosis and evaluation of treatment effect in leukemia. The cytogenetic aberrations of leukemia are nonrandom, but uneven geographic distribution of specific abnormalities have been reported in a few studies. So we analyzed cytogenetic study to find these uneven distribution patterns. METHODS: The conventional cytogenetic study was performed for 515 cases with acute and chronic leukemia on initial diagnosis. The results were analysed in each subtypes classified according to FAB criteria. RESULTS: The aberration rate was 62.0% in acute myelogenous leukemia (AML), 72.0% in acute lymphoblastic leukemia (ALL), 92.8% in chronic myelogenous leukemia (CML), 37.5% in chronic lymphocytic leukemia (CLL), 56.9% in myelodysplastic syndrome (MDS) and 36.4% in acute undetermined leukemia. The frequent anomalies were t(8;21)(q22;q22), t(15;17)(q22;q11), -Y, +8, +21 in AML, t(9;22)(q34;q11), del(6q), +8, t(1;19)(q23;p13), +21, -20 in ALL, -7/del(7q), +8, del(12p), +11 in MDS. Philadelphia chromosome was found in 94.8% of CML and +22q-, +8 was frequent secondary changes. The incidence of t(8;21)(q22;q22) in M2, t(15;17)(q22;q11) in M3, t(9;22)(q34;q11) in ALL and -5/del5q, -7/del7q in MDS were 54.9%, 95.2%, 23.6%, 4.0% and 40.0%, respectively. CONCLUSION: There were no marked differences in distribution pattern of common aberrations compared to previous reports. But the frequency of some anomalies showed specific findings. The incidence of t(8;21) in M2 subtype and t(9;22)(q34;q11) in ALL were higher in oriental countries including our results than in western countries. The incidence of -5/del(5q) in MDS was lower in oriental countries. These findings suggest the geographic heterogeneity which may give some help to investigate the genetic and environmental influence on the karyology of tumors.