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HETEROGENEITY IN CYTOGENETIC AND CLINICAL FEATURES OF PATIENTS WITH MYELODYSPLASTIC SYNDROME AND DELETION 5Q
Author(s): ,
George Papaioannou
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Anastasia Athanasiadou
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Eleni Gavriilaki
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Zoi Bousiou
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Michalis Iskas
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Maria Papathanasiou
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Niki Stavroyianni
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
,
Ioanna Sakellari
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
Achilles Anagnostopoulos
Affiliations:
Hematology Department - BMT Unit,G. Papanicolaou Hospital,Thessaloniki,Greece
(Abstract release date: 05/19/16) EHA Library. Gavriilaki E. 06/09/16; 132773; E1224 Disclosure(s): Nothing to disclose
Dr. Eleni Gavriilaki
Dr. Eleni Gavriilaki
Contributions
Abstract
Abstract: E1224

Type: Eposter Presentation

Background
Deletion 5q [del(5q)] represents a distinct cytogenetic abnormality in patients with myelodysplastic syndrome (MDS). Although isolated del5q has been linked with favorable prognosis, the role of additional cytogenetic aberrations has not been clearly defined yet. 

Aims
We aimed to study patients with MDS del(5q) in terms of cytogenetic and clinical features, as well as treatment outcomes. 

Methods
We retrospectively analyzed data from 408 patients (pts) diagnosed with MDS and partial or complete deletion of the long arm of chromosome 5 in our centre from 2007 to 2014. All patients were studied by karyotyping and received standard of care by their treating physicians. 

Results
Among 408 MDS pts, del(5q) was detected in 32 (7.8%). Isolated del5q was found in 7/32 (21%). Additional cytogenetic abnormalities were detected in 25/32 pts: chromosomal translocations of 1q, 11q and 20q and deletion of chromosomes 7, 17 and 18.Clinical data were available for 20 / 32 pts: 17 males: 3 females with a median age of 69.7 at diagnosis. MDS was de novo in 15 pts, post polycythemia vera in 2 pts and treatment-related in 3 pts (post chemotherapy±autologous transplant for Hogdkin lymphoma in 2 pts and for multiple myeloma in 1 pt). At diagnosis, median bone marrow blasts were 6% (range 0-19%). In the peripheral blood, median Hb levels were 8.7 g/dl (8-11.7), white blood cell count 4.2 K/μl (1.85-2.65) and platelets 131 K/μL (26-330). No evidence of thrombocytocis was found. Cytogenetics revealed del(5q) as an isolated abnormality in 3/20 (15%) pts and additional abnormalities in the rest 17/20 (85%) pts. Patients with an isolated del(5q) presented no disease progression and 2/3 are alive in complete remission. One patient with isolated del(5q) succumbed from other causes. According to the IPSS (International Prognostic Scoring System), 6/20 (30%) pts were diagnosed as low and intermediate-1 risk; whereas, 6 pts were classified as intermediate-2 and 8 pts as high-risk. Lenalidomide treatment was initiated in 4 pts among which, 3 had additional cytogenetic abnormalities and classified as intermediate-1 (2 pts) and intermediate-2 (1 pt) risk. Median overall survival in pts treated with lenalidomide was 28 months (3-32) compared to 10 months (1-2) in pts not treated with lenalidomide. Other treatment options were: azacytidine (5 pts classified as high and 2 as intermediate-2 risk), erythropoietin (2 pts classified as intermediate-1 risk), low dose cytarabine (2 pts classified as intermediate-2 and high risk int-2) and hydroxyurea (1 pt classified as high risk). Allogeneic hematopoietic cell transplantation was performed in two pts with intermediate-2 risk according to IPSS.

Conclusion
Our study confirms that del(5q) as an isolated cytogenetic abnormality is rather rare in patients with MDS compared to del(5q) additional cytogenetic aberrations. Although the majority of additional cytogenetic abnormalities have been traditionally considered non high-risk, our findings link additional cytogenetic abnormalities with higher risk stratification and worse clinical outcomes.

Session topic: E-poster

Keyword(s): Myelodysplasia
Abstract: E1224

Type: Eposter Presentation

Background
Deletion 5q [del(5q)] represents a distinct cytogenetic abnormality in patients with myelodysplastic syndrome (MDS). Although isolated del5q has been linked with favorable prognosis, the role of additional cytogenetic aberrations has not been clearly defined yet. 

Aims
We aimed to study patients with MDS del(5q) in terms of cytogenetic and clinical features, as well as treatment outcomes. 

Methods
We retrospectively analyzed data from 408 patients (pts) diagnosed with MDS and partial or complete deletion of the long arm of chromosome 5 in our centre from 2007 to 2014. All patients were studied by karyotyping and received standard of care by their treating physicians. 

Results
Among 408 MDS pts, del(5q) was detected in 32 (7.8%). Isolated del5q was found in 7/32 (21%). Additional cytogenetic abnormalities were detected in 25/32 pts: chromosomal translocations of 1q, 11q and 20q and deletion of chromosomes 7, 17 and 18.Clinical data were available for 20 / 32 pts: 17 males: 3 females with a median age of 69.7 at diagnosis. MDS was de novo in 15 pts, post polycythemia vera in 2 pts and treatment-related in 3 pts (post chemotherapy±autologous transplant for Hogdkin lymphoma in 2 pts and for multiple myeloma in 1 pt). At diagnosis, median bone marrow blasts were 6% (range 0-19%). In the peripheral blood, median Hb levels were 8.7 g/dl (8-11.7), white blood cell count 4.2 K/μl (1.85-2.65) and platelets 131 K/μL (26-330). No evidence of thrombocytocis was found. Cytogenetics revealed del(5q) as an isolated abnormality in 3/20 (15%) pts and additional abnormalities in the rest 17/20 (85%) pts. Patients with an isolated del(5q) presented no disease progression and 2/3 are alive in complete remission. One patient with isolated del(5q) succumbed from other causes. According to the IPSS (International Prognostic Scoring System), 6/20 (30%) pts were diagnosed as low and intermediate-1 risk; whereas, 6 pts were classified as intermediate-2 and 8 pts as high-risk. Lenalidomide treatment was initiated in 4 pts among which, 3 had additional cytogenetic abnormalities and classified as intermediate-1 (2 pts) and intermediate-2 (1 pt) risk. Median overall survival in pts treated with lenalidomide was 28 months (3-32) compared to 10 months (1-2) in pts not treated with lenalidomide. Other treatment options were: azacytidine (5 pts classified as high and 2 as intermediate-2 risk), erythropoietin (2 pts classified as intermediate-1 risk), low dose cytarabine (2 pts classified as intermediate-2 and high risk int-2) and hydroxyurea (1 pt classified as high risk). Allogeneic hematopoietic cell transplantation was performed in two pts with intermediate-2 risk according to IPSS.

Conclusion
Our study confirms that del(5q) as an isolated cytogenetic abnormality is rather rare in patients with MDS compared to del(5q) additional cytogenetic aberrations. Although the majority of additional cytogenetic abnormalities have been traditionally considered non high-risk, our findings link additional cytogenetic abnormalities with higher risk stratification and worse clinical outcomes.

Session topic: E-poster

Keyword(s): Myelodysplasia

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