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Evaluation of JAK2 in B and T cell neoplasms: identification of JAK2(V617F) mutation of undetermined significance (JMUS) in the bone marrow of three individuals

Evaluation of JAK2 in B and T cell neoplasms: identification of JAK2(V617F) mutation of undetermined significance (JMUS) in the bone marrow of three individuals
Evaluation of JAK2 in B and T cell neoplasms: identification of JAK2(V617F) mutation of undetermined significance (JMUS) in the bone marrow of three individuals
BACKGROUND/AIMS: The JAK2(V617F) mutation, which has been found in patients with myeloproliferative disorders (MPD), has not yet been evaluated in lymphoproliferative disorders by any adequately sensitive techniques.
METHODS: We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay.
RESULTS: While 234 of 237 cases did not carry the JAK2(V617F) allele, it was identified in the bone marrow of 3 B cell lymphoma patients. The mutation was found to be neither associated with the lymphomas per se, nor with any signs, symptoms or laboratory findings of MPD. Moreover, JAK2(V617F) appeared subsequently in the peripheral blood of 2 of the 3 patients.
Conclusion: These findings suggest that JAK2(V617F) arises in the bone marrow of individuals before clinical manifestation of any myeloid disorders. Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, just as monoclonal gammopathy of undetermined significance (MGUS) increases the risk of multiple myeloma. We term this phenomenon 'JAK2(V617F) of undetermined significance' (JMUS). Its clinical significance remains to be determined. To our knowledge, these findings represent the first identification of JAK2(V617F) in the bone marrow of patients without myeloid malignancies
lymphoproliferative disorders, second primary, protein, missense, b-cell, methods, myeloproliferative disorders, amino acid substitution, enzymology, mutation, female, large b-cell, human, lymphocytic, male, point mutation, janus kinase 2, proteins, lymphoma, humans, analysis, pathology, aged, risk, diffuse, patients, genetics, disease susceptibility, laboratories, t-cell, chronic, 80 and over, blood, alleles, neoplasms, multiple myeloma, leukemia, neoplasm proteins, bone, marginal zone, bone marrow, stomach neoplasms, report, bone marrow cells
0001-5792
209-214
Wang, Y.L.
9946f999-08c5-4e42-8e04-c632b90ec6c1
Lee, J.W.
da76d446-98be-4259-80b3-48495b15c089
Kui, J.S.
44edcc49-0980-4479-86c2-45d7ce995b00
Chadburn, A.
0fa4dbe3-d4a8-4057-baf9-e34dd60e57c5
Cross, N.C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Knowles, D.M.
090280cc-86e8-4616-96f8-093ff302863c
Coleman, M.
734868d3-f8c4-467d-9e30-1176ed8e4907
Wang, Y.L.
9946f999-08c5-4e42-8e04-c632b90ec6c1
Lee, J.W.
da76d446-98be-4259-80b3-48495b15c089
Kui, J.S.
44edcc49-0980-4479-86c2-45d7ce995b00
Chadburn, A.
0fa4dbe3-d4a8-4057-baf9-e34dd60e57c5
Cross, N.C.
f87650da-b908-4a34-b31b-d62c5f186fe4
Knowles, D.M.
090280cc-86e8-4616-96f8-093ff302863c
Coleman, M.
734868d3-f8c4-467d-9e30-1176ed8e4907

Wang, Y.L., Lee, J.W., Kui, J.S., Chadburn, A., Cross, N.C., Knowles, D.M. and Coleman, M. (2007) Evaluation of JAK2 in B and T cell neoplasms: identification of JAK2(V617F) mutation of undetermined significance (JMUS) in the bone marrow of three individuals. Acta Haematologica, 118 (4), 209-214. (doi:10.1159/000111532).

Record type: Article

Abstract

BACKGROUND/AIMS: The JAK2(V617F) mutation, which has been found in patients with myeloproliferative disorders (MPD), has not yet been evaluated in lymphoproliferative disorders by any adequately sensitive techniques.
METHODS: We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay.
RESULTS: While 234 of 237 cases did not carry the JAK2(V617F) allele, it was identified in the bone marrow of 3 B cell lymphoma patients. The mutation was found to be neither associated with the lymphomas per se, nor with any signs, symptoms or laboratory findings of MPD. Moreover, JAK2(V617F) appeared subsequently in the peripheral blood of 2 of the 3 patients.
Conclusion: These findings suggest that JAK2(V617F) arises in the bone marrow of individuals before clinical manifestation of any myeloid disorders. Presence of JAK2(V617F) in bone marrow might therefore increase the risk of future MPD development, just as monoclonal gammopathy of undetermined significance (MGUS) increases the risk of multiple myeloma. We term this phenomenon 'JAK2(V617F) of undetermined significance' (JMUS). Its clinical significance remains to be determined. To our knowledge, these findings represent the first identification of JAK2(V617F) in the bone marrow of patients without myeloid malignancies

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More information

Published date: 2007
Keywords: lymphoproliferative disorders, second primary, protein, missense, b-cell, methods, myeloproliferative disorders, amino acid substitution, enzymology, mutation, female, large b-cell, human, lymphocytic, male, point mutation, janus kinase 2, proteins, lymphoma, humans, analysis, pathology, aged, risk, diffuse, patients, genetics, disease susceptibility, laboratories, t-cell, chronic, 80 and over, blood, alleles, neoplasms, multiple myeloma, leukemia, neoplasm proteins, bone, marginal zone, bone marrow, stomach neoplasms, report, bone marrow cells

Identifiers

Local EPrints ID: 60396
URI: http://eprints.soton.ac.uk/id/eprint/60396
ISSN: 0001-5792
PURE UUID: 99d09f48-4372-402d-bc70-7b06213797c7
ORCID for N.C. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 02 Sep 2008
Last modified: 16 Mar 2024 03:23

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Contributors

Author: Y.L. Wang
Author: J.W. Lee
Author: J.S. Kui
Author: A. Chadburn
Author: N.C. Cross ORCID iD
Author: D.M. Knowles
Author: M. Coleman

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