DETECTION OF MYD88 (L265P) SOMATIC MUTATION IN SPLENIC MARGINAL ZONE LYMPHOMA (SMZL)
(Abstract release date: 05/19/16)
EHA Library. Kalpadakis C. 06/09/16; 134778; PB1878
Assoc. Prof. Christina Kalpadakis
Contributions
Contributions
Abstract
Abstract: PB1878
Type: Publication Only
Background
MYD88 L265P is a somatic mutation that has been identified in about 90% of Waldenstrom macroglobulinemia (WM)/ lymphoplasmacytic lymphomas (LPLs). Several reports demonstrated the presence of the mutation in other lymphomas mainly DLBCL of activated type and SMZL. In SMZL, the frequency of MYD-88 mutation ranges between 0-21% in various studies.
Aims
The aim of the present study was to determine the presence of L265P MYD-88 mutation in a well characterized series of SMZL cases along with an extended analysis of the clinical, morphologic, immunophenotypic and histologic features.
Methods
We retrospectively evaluated 37 SMZL cases. The identification of MYD 88 L265P mutation was performed in blood or BM mononuclear cells with allele specific PCR. The sensitivity of the method was 10-3.
Results
The main clinical and laboratory characteristics are shown in the table. 11/37 (30%) were males with a median age of 62 years. All cases presented with splenomegaly and one with B-symptoms. Lymphadenopathy was evident in 7 cases (19%). Bone marrow (BM) was infiltrated in all cases, with a mixed (nodular and intrasinusoidal) pattern of infiltration in most cases. Paraproteinemia was present in 9/29 (31%), 6 of the IgG and 3 of the IgM type.None of the studied cases had positive serology for the hepatitis C virus. Anemia and thrombocytopenia were found in 28% and 8%, respectively. MYD-88 L265P mutation was detected in one case (1/37, 3%). This was a case of a 62-year old man with IgMκ paraproteinemia of low level (550mg/dl), lymphocytosis (8000/μL), no anemia, mild to moderate splenomegaly (max 15.6 cm), small hilar lymphadenopathy and 60% BM infiltration with a nodular and intrasinusoidal pattern. At the time of CR documentation, disease was not detectable including the disappearance of the IgMκ monoclonal fraction in the blood, except the presence of the MYD-88 mutation in the BM mononuclear cells which in the same specimen was IgVH negative.The other two patients with an IgM monoclonal band were negative for the MYD-88 mutation, as were those with IgG monoclonal gammopathy.
Conclusion
Based on our findings, MYD88 L265P mutation is very rare in SMZL. In our series of 37 SMZL cases, MYD88 L265P mutation was detected in only one case (3%), which a monoclonal IgMκ was present. Our findings support the view that the presence of an IgM monoclonal gammopathy in the serum, with a lymphocytic – lymphoplasmacytic infiltration of the BM by no means document the diagnosis of WM / LPL.
Session topic: E-poster
Keyword(s): Splenic marginal zone lymphoma
Type: Publication Only
Background
MYD88 L265P is a somatic mutation that has been identified in about 90% of Waldenstrom macroglobulinemia (WM)/ lymphoplasmacytic lymphomas (LPLs). Several reports demonstrated the presence of the mutation in other lymphomas mainly DLBCL of activated type and SMZL. In SMZL, the frequency of MYD-88 mutation ranges between 0-21% in various studies.
Aims
The aim of the present study was to determine the presence of L265P MYD-88 mutation in a well characterized series of SMZL cases along with an extended analysis of the clinical, morphologic, immunophenotypic and histologic features.
Methods
We retrospectively evaluated 37 SMZL cases. The identification of MYD 88 L265P mutation was performed in blood or BM mononuclear cells with allele specific PCR. The sensitivity of the method was 10-3.
Results
The main clinical and laboratory characteristics are shown in the table. 11/37 (30%) were males with a median age of 62 years. All cases presented with splenomegaly and one with B-symptoms. Lymphadenopathy was evident in 7 cases (19%). Bone marrow (BM) was infiltrated in all cases, with a mixed (nodular and intrasinusoidal) pattern of infiltration in most cases. Paraproteinemia was present in 9/29 (31%), 6 of the IgG and 3 of the IgM type.None of the studied cases had positive serology for the hepatitis C virus. Anemia and thrombocytopenia were found in 28% and 8%, respectively. MYD-88 L265P mutation was detected in one case (1/37, 3%). This was a case of a 62-year old man with IgMκ paraproteinemia of low level (550mg/dl), lymphocytosis (8000/μL), no anemia, mild to moderate splenomegaly (max 15.6 cm), small hilar lymphadenopathy and 60% BM infiltration with a nodular and intrasinusoidal pattern. At the time of CR documentation, disease was not detectable including the disappearance of the IgMκ monoclonal fraction in the blood, except the presence of the MYD-88 mutation in the BM mononuclear cells which in the same specimen was IgVH negative.The other two patients with an IgM monoclonal band were negative for the MYD-88 mutation, as were those with IgG monoclonal gammopathy.
Conclusion
Based on our findings, MYD88 L265P mutation is very rare in SMZL. In our series of 37 SMZL cases, MYD88 L265P mutation was detected in only one case (3%), which a monoclonal IgMκ was present. Our findings support the view that the presence of an IgM monoclonal gammopathy in the serum, with a lymphocytic – lymphoplasmacytic infiltration of the BM by no means document the diagnosis of WM / LPL.
Session topic: E-poster
Keyword(s): Splenic marginal zone lymphoma
Abstract: PB1878
Type: Publication Only
Background
MYD88 L265P is a somatic mutation that has been identified in about 90% of Waldenstrom macroglobulinemia (WM)/ lymphoplasmacytic lymphomas (LPLs). Several reports demonstrated the presence of the mutation in other lymphomas mainly DLBCL of activated type and SMZL. In SMZL, the frequency of MYD-88 mutation ranges between 0-21% in various studies.
Aims
The aim of the present study was to determine the presence of L265P MYD-88 mutation in a well characterized series of SMZL cases along with an extended analysis of the clinical, morphologic, immunophenotypic and histologic features.
Methods
We retrospectively evaluated 37 SMZL cases. The identification of MYD 88 L265P mutation was performed in blood or BM mononuclear cells with allele specific PCR. The sensitivity of the method was 10-3.
Results
The main clinical and laboratory characteristics are shown in the table. 11/37 (30%) were males with a median age of 62 years. All cases presented with splenomegaly and one with B-symptoms. Lymphadenopathy was evident in 7 cases (19%). Bone marrow (BM) was infiltrated in all cases, with a mixed (nodular and intrasinusoidal) pattern of infiltration in most cases. Paraproteinemia was present in 9/29 (31%), 6 of the IgG and 3 of the IgM type.None of the studied cases had positive serology for the hepatitis C virus. Anemia and thrombocytopenia were found in 28% and 8%, respectively. MYD-88 L265P mutation was detected in one case (1/37, 3%). This was a case of a 62-year old man with IgMκ paraproteinemia of low level (550mg/dl), lymphocytosis (8000/μL), no anemia, mild to moderate splenomegaly (max 15.6 cm), small hilar lymphadenopathy and 60% BM infiltration with a nodular and intrasinusoidal pattern. At the time of CR documentation, disease was not detectable including the disappearance of the IgMκ monoclonal fraction in the blood, except the presence of the MYD-88 mutation in the BM mononuclear cells which in the same specimen was IgVH negative.The other two patients with an IgM monoclonal band were negative for the MYD-88 mutation, as were those with IgG monoclonal gammopathy.
Conclusion
Based on our findings, MYD88 L265P mutation is very rare in SMZL. In our series of 37 SMZL cases, MYD88 L265P mutation was detected in only one case (3%), which a monoclonal IgMκ was present. Our findings support the view that the presence of an IgM monoclonal gammopathy in the serum, with a lymphocytic – lymphoplasmacytic infiltration of the BM by no means document the diagnosis of WM / LPL.
Session topic: E-poster
Keyword(s): Splenic marginal zone lymphoma
Type: Publication Only
Background
MYD88 L265P is a somatic mutation that has been identified in about 90% of Waldenstrom macroglobulinemia (WM)/ lymphoplasmacytic lymphomas (LPLs). Several reports demonstrated the presence of the mutation in other lymphomas mainly DLBCL of activated type and SMZL. In SMZL, the frequency of MYD-88 mutation ranges between 0-21% in various studies.
Aims
The aim of the present study was to determine the presence of L265P MYD-88 mutation in a well characterized series of SMZL cases along with an extended analysis of the clinical, morphologic, immunophenotypic and histologic features.
Methods
We retrospectively evaluated 37 SMZL cases. The identification of MYD 88 L265P mutation was performed in blood or BM mononuclear cells with allele specific PCR. The sensitivity of the method was 10-3.
Results
The main clinical and laboratory characteristics are shown in the table. 11/37 (30%) were males with a median age of 62 years. All cases presented with splenomegaly and one with B-symptoms. Lymphadenopathy was evident in 7 cases (19%). Bone marrow (BM) was infiltrated in all cases, with a mixed (nodular and intrasinusoidal) pattern of infiltration in most cases. Paraproteinemia was present in 9/29 (31%), 6 of the IgG and 3 of the IgM type.None of the studied cases had positive serology for the hepatitis C virus. Anemia and thrombocytopenia were found in 28% and 8%, respectively. MYD-88 L265P mutation was detected in one case (1/37, 3%). This was a case of a 62-year old man with IgMκ paraproteinemia of low level (550mg/dl), lymphocytosis (8000/μL), no anemia, mild to moderate splenomegaly (max 15.6 cm), small hilar lymphadenopathy and 60% BM infiltration with a nodular and intrasinusoidal pattern. At the time of CR documentation, disease was not detectable including the disappearance of the IgMκ monoclonal fraction in the blood, except the presence of the MYD-88 mutation in the BM mononuclear cells which in the same specimen was IgVH negative.The other two patients with an IgM monoclonal band were negative for the MYD-88 mutation, as were those with IgG monoclonal gammopathy.
Conclusion
Based on our findings, MYD88 L265P mutation is very rare in SMZL. In our series of 37 SMZL cases, MYD88 L265P mutation was detected in only one case (3%), which a monoclonal IgMκ was present. Our findings support the view that the presence of an IgM monoclonal gammopathy in the serum, with a lymphocytic – lymphoplasmacytic infiltration of the BM by no means document the diagnosis of WM / LPL.
Session topic: E-poster
Keyword(s): Splenic marginal zone lymphoma
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