TP53缺失的初诊多发性骨髓瘤伴颅内侵犯2例
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摘要
两例初治多发性骨髓瘤伴颅内侵犯的患者起病均以中枢神经系统功能受损为临床表现,颅骨受到破坏的同时存在多发硬膜侵犯。伴TP53缺失的遗传学异常与颅内侵犯的相关性,尚无定论。患者均接受含硼替佐米、阿霉素的多药联合方案,取得良好的短期疗效,与文献报道符合。TP53缺失的初治多发性骨髓瘤伴颅内侵犯预后不良。以硼替佐米为基础的强化学药物治疗方案联合自体或异基因造血干细胞移植有望提高临床疗效。
We report two rare cases of multiple myeloma(MM) with dural intracranial disease and TP53 deletion. Th e two patients presented with skull lytic lesion and dural involvement of myeloma. Th e association between intracranial involvement in MM and TP53 deletion has not been determined. Th e two patients received bortezomib-based intensive induction and got good response, just as that reported in literature. MM presenting with dural intracranial disease and TP53 deletion at diagnosis is associated with poor outcome. Multi-drug regime containing bortezomib followed by autologous or allogeneic stem cell transportation would improve the prognosis.
We report two rare cases of multiple myeloma(MM) with dural intracranial disease and TP53 deletion. Th e two patients presented with skull lytic lesion and dural involvement of myeloma. Th e association between intracranial involvement in MM and TP53 deletion has not been determined. Th e two patients received bortezomib-based intensive induction and got good response, just as that reported in literature. MM presenting with dural intracranial disease and TP53 deletion at diagnosis is associated with poor outcome. Multi-drug regime containing bortezomib followed by autologous or allogeneic stem cell transportation would improve the prognosis.
引文
[1]Chen CI,Masih-Khan E,Jiang H,et al.Central nervous system involvement with multiple myeloma:long term survival can be achieved with radiation,intrathecal chemotherapy,and immunomodulatory agents[J].Br J Haematol,2013,162(4):483-488.
[2]Gozzetti A,Cerase A,Lotti F,et al.Extramedullary intracranial localization of multiple myeloma and treatment with novel agents:a retrospective survey of 50 patients[J].Cancer,2012,118(6):1574-1584.
[3]Mendez CE,Hwang BJ,Destian S,et al.Intracranial multifocal dural involvement in multiple myeloma:Case report and review of the literature[J].Clin Lymphoma Myeloma Leuk,2010,10(3):220-223.
[4]Montalban C,Martin-Aresti J,Patier JL,et al.Unusual cases in multiple myeloma and a dramatic response in metastatic lung cancer:Case 3.Intracranial plasmacytoma with cranial nerve neuropathy in multiple myeloma[J].J Clin Oncol,2005,23(1):233-235.
[5]Morgan GJ,Walker BA,Davies FE.The genetic architecture of multiple myeloma[J].Nat Rev Cancer,2012,12(5):335-348.
[6]秦小琪,安刚,邱录贵.多发性骨髓瘤分子细胞遗传学异常及发病机制:第55届美国血液学会年会报道[J].白血病.淋巴瘤,2014,23(2):66-69.QIN Xiaoqi,AN Gang,QIU Lugui,et al.Molecular cytogenetic pathogenesis of multiple myeloma:Reports in the 55th ASH annual meeting[J].Journal of Leukemia&Lymphoma,2014,23(2):66-69.
[7]Chang WJ,Kim SJ,Kim K.Central nervous system multiple myeloma:a different cytogenetic profile?[J].Br J Haematol,2014,164(5):745-748.
[8]Katodritou E,Terpos E,Kastritis E,et al.Lack of survival improvement with novel anti-myeloma agents for patients with multiple myeloma and central nervous system involvement:the Greek Myeloma Study Group experience[J].Ann Hematol,2015,94(12):2033-2042.
[9]Lee D,Kalff A,Low M,et al.Central nervous system multiple myeloma--potential roles for intrathecal therapy and measurement of cerebrospinal fluid light chains[J].Br J Haematol,2013,162(3):371-375.
[10]Neben K,Lokhorst HM,Jauch A,et al.Administration of bortezomib before and after autologous stem cell transplantation improves outcome in multiple myeloma patients with deletion 17p[J].Blood,2012,119(4):940-948.
[11]Nooka AK,Kaufman JL,Muppidi S,et al.Consolidation and maintenance therapy with lenalidomide,bortezomib and dexamethasone(RVD)in high-risk myeloma patients[J].Leukemia,2014,28(3):690-693.
[12]Shaughnessy JD Jr,Zhan F,Burington BE,et al.A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1[J].Blood,2007,109(6):2276-2284.
[13]Binder M,Rajkumar SV,Ketterling RP,et al.Prognostic implications of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in newly diagnosed multiple myeloma[J].Blood Cancer J,2017,7(9):e600.
[14]Zojer N,Konigsberg R,Ackermann J,et al.Deletion of 13q14remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization[J].Blood,2000,95(6):1925-1930.
[2]Gozzetti A,Cerase A,Lotti F,et al.Extramedullary intracranial localization of multiple myeloma and treatment with novel agents:a retrospective survey of 50 patients[J].Cancer,2012,118(6):1574-1584.
[3]Mendez CE,Hwang BJ,Destian S,et al.Intracranial multifocal dural involvement in multiple myeloma:Case report and review of the literature[J].Clin Lymphoma Myeloma Leuk,2010,10(3):220-223.
[4]Montalban C,Martin-Aresti J,Patier JL,et al.Unusual cases in multiple myeloma and a dramatic response in metastatic lung cancer:Case 3.Intracranial plasmacytoma with cranial nerve neuropathy in multiple myeloma[J].J Clin Oncol,2005,23(1):233-235.
[5]Morgan GJ,Walker BA,Davies FE.The genetic architecture of multiple myeloma[J].Nat Rev Cancer,2012,12(5):335-348.
[6]秦小琪,安刚,邱录贵.多发性骨髓瘤分子细胞遗传学异常及发病机制:第55届美国血液学会年会报道[J].白血病.淋巴瘤,2014,23(2):66-69.QIN Xiaoqi,AN Gang,QIU Lugui,et al.Molecular cytogenetic pathogenesis of multiple myeloma:Reports in the 55th ASH annual meeting[J].Journal of Leukemia&Lymphoma,2014,23(2):66-69.
[7]Chang WJ,Kim SJ,Kim K.Central nervous system multiple myeloma:a different cytogenetic profile?[J].Br J Haematol,2014,164(5):745-748.
[8]Katodritou E,Terpos E,Kastritis E,et al.Lack of survival improvement with novel anti-myeloma agents for patients with multiple myeloma and central nervous system involvement:the Greek Myeloma Study Group experience[J].Ann Hematol,2015,94(12):2033-2042.
[9]Lee D,Kalff A,Low M,et al.Central nervous system multiple myeloma--potential roles for intrathecal therapy and measurement of cerebrospinal fluid light chains[J].Br J Haematol,2013,162(3):371-375.
[10]Neben K,Lokhorst HM,Jauch A,et al.Administration of bortezomib before and after autologous stem cell transplantation improves outcome in multiple myeloma patients with deletion 17p[J].Blood,2012,119(4):940-948.
[11]Nooka AK,Kaufman JL,Muppidi S,et al.Consolidation and maintenance therapy with lenalidomide,bortezomib and dexamethasone(RVD)in high-risk myeloma patients[J].Leukemia,2014,28(3):690-693.
[12]Shaughnessy JD Jr,Zhan F,Burington BE,et al.A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1[J].Blood,2007,109(6):2276-2284.
[13]Binder M,Rajkumar SV,Ketterling RP,et al.Prognostic implications of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in newly diagnosed multiple myeloma[J].Blood Cancer J,2017,7(9):e600.
[14]Zojer N,Konigsberg R,Ackermann J,et al.Deletion of 13q14remains an independent adverse prognostic variable in multiple myeloma despite its frequent detection by interphase fluorescence in situ hybridization[J].Blood,2000,95(6):1925-1930.