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1.
Amyloid ; 27(1): 36-44, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31635489

RESUMO

Background: Amyloid light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibres derived from immunoglobulin that can lead to irreversible organ damage. Information about genomic profiles of AL amyloidosis is lacking.Methods: In this study, we adopted a two-step strategy to investigate the mutational profile of AL amyloidosis bone marrow plasma cells (PCs) and their clinical implications. In step one, whole-exome sequencing was performed in bone marrow PCs and paired with normal tissue from 10 AL amyloidosis patients, by which we identified 10 significantly mutated genes (SMGs). In step two, we constituted a targeted gene sequencing (TGS) panel covering the frequently mutated genes identified in step one, genes reported in prior AL amyloidosis studies, and known cancer driver mutations. Then, we analysed an expanded cohort of AL amyloidosis patients (N = 48) with this panel comprising 98 genes.Results: Four recurrent mutations were identified by TGS and verified by Sanger sequencing: ASB15 (c. 844 C > T), ASCC3 (c. 1595 A > G), HIST1H1E (c. 311 C > T) and KRAS (c. 35 G > A), among which the first three mutations were associated with inferior overall survival (OS). Additionally, we found that the number of mutations identified by the TGS panel of 98 genes could be a prognostic predictor for OS.Conclusions: In summary, we revealed genomic profiling in AL amyloidosis and found mutation profiles associated with OS.

2.
Echocardiography ; 36(11): 1997-2003, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31693226

RESUMO

AIMS: Our aim is to investigate the characterized echocardiographic cardiac measurements of POEMS syndrome and determine its relationship with clinical manifestations. METHODS AND RESULTS: The cross-sectional study included 27 treatment-naïve patients with newly diagnosed POEMS syndrome and 26 age- and sex-matched healthy volunteers. Information of clinical manifestations, serological tests, pulmonary function tests, and both conventional echocardiograph and tissue Doppler imaging (TDI) were collected and analyzed. Pearson's correlation coefficient was used for determining the related clinical and echocardiographic parameters. Compared to healthy people, left ventricular (LV) mass index (LVMI) was elevated in patients with POEMS syndrome (41.3 ± 11.0 g/m2.7 , P < .05). LV systolic dysfunction was found by decreased mitral S' (9.0 ± 2.2 m/sec, P < .01), and diastolic dysfunction by mitral E'/A' (1.10 ± 0.42, P < .05), E/E' (8.69 ± 4.06, P < .001) on lateral, and E/E' (7.90 ± 3.28, P = .133) on septal mitral annulus. The presence of decreased tricuspid annular plane systolic excursion (TAPSE) (22.2 ± 3.5 mm, P < .01) and lateral tricuspid S' (11.1 ± 1.8 m/sec, P < .05) suggested deterioration of right ventricular (RV) systolic function. Parameters obtained from standard echocardiograph (tricuspid E/A ratio and DT) and TDI ((lateral tricuspid annulus E'/A' and E/E') indicated reduced RV diastolic function. Pulmonary hypertension (PH) was presented in six patients. Correlation analysis suggested that PH was related to total lung capacity (TLC) and diffusion capacity of carbon monoxide (DLCO). CONCLUSION: Echocardiographic measurements found that there was elevation of LVMI, pulmonary artery hypertension, and subclinical impairment of systolic and diastolic functions of both the right and left heart in patients with POEMS syndrome.

3.
Leuk Res ; 86: 106226, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31541941

RESUMO

To summarize the clinical characteristics and prognostic factors of Chinese patients with systemic light chain amyloidosis with liver involvement. We retrospectively analyzed the clinical features and natural history data of 102 patients diagnosed with systemic light chain amyloidosis with liver involvement at Peking Union Medical College Hospital between March 2007 and May 2018. More than 95% of patients showed the involvement of other organs. Kidney and heart were the most frequently involved organs, accounting for 71.6% and 68.6% of cases, respectively. Hepatomegaly was the most frequently observed physical sign, accounting for 67.6% of cases. Elevated levels of alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) were frequently observed, accounting for 85.3% and 88.2% of cases, respectively. A significantly better prognosis was observed in patients with normal total bilirubin levels, as compared with those with elevated levels of total bilirubin. Patients in the normal total bilirubin group showed a significantly better progression-free survival (PFS) (38 months) as compared the elevated total bilirubin group (4 months; P < 0.001). The median overall survival (OS) in the normal total bilirubin group was not reached compared with the elevated total bilirubin group (4 months, P < 0.001). Notably, the early death rate was significantly lower in the normal total bilirubin group as compared to the elevated total bilirubin group (14.5% vs 48.5%, P < 0.001). In conclusion, the elevation of total bilirubin indicated an early death and worse PFS and OS. Early diagnosis is therefore essential, and requires appropriate treatment and intensive care.

5.
Hematology ; 24(1): 661-668, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31537183

RESUMO

Objectives: To analyze the clinical characteristics and prognostic factors in Chinese patients with classical Hodgkin's lymphoma (cHL) involving extranodal sites. Methods: Clinical features and outcomes of 68 patients diagnosed with cHL involving extranodal sites from April 2003 to November 2017 were analyzed retrospectively. The data was compared with that of 76 cHL patients without extranodal involvement in the same period. Results: (1) Extranodal involvement was common in Chinese cHL patients. The most common sites were lung (44.1%) and bone (33.8%), followed by bone marrow, liver, pericardium, pleura and other sites. (2) With a median follow-up period of 4.58 years, the 5-year overall survival (OS) of 68 patients with extranodal involvement was significantly poorer than that of 76 patients with only nodal involvement (81.4% vs. 92.8%, p = 0.018). (3) In univariate analysis, lymphocytopenia (p = 0.027), elevated lactate dehydrogenase (LDH) (p = 0.026) and involved lymph node region (LNR) ≥4 (p = 0.044) predicted inferior freedom from progression (FFP) with significant difference. Elder age (p = 0.010), elevated LDH (p = 0.013), elevated platelet (p = 0.044), involved LNR ≥ 4 (p = 0.047) were also statistically significant in OS. Extranodal sites and number of extranodal sites showed no significant difference in FFP and OS. Factors with p-value smaller than 0.100 were evaluated in multivariate analysis, turning out that lymphocytopenia was the only independent adverse prognostic factor in FFP (p = 0.039; HR = 2.595) and OS (p = 0.028; HR = 4.993). Conclusion: Extranodal involvement was frequent in Chinese cHL patients, with lung to be the most commonly involved site. Lymphocytopenia was the only independent adverse prognostic factor.

8.
Amyloid ; 26(2): 66-73, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31074308

RESUMO

Background: Patients with amyloid light-chain (AL) amyloidosis who have advanced cardiac damage are at risk of premature mortality. Currently, bortezomib is the mainstay in the treatment of AL amyloidosis, but the benefits of bortezomib in patients with ultra-high-risk (2004 Mayo stage IIIb or 2012 Mayo stage IV) AL amyloidosis have not been proved definitively. Methods: We performed a retrospective analysis of patients newly diagnosed with ultra-high-risk AL amyloidosis who received a bortezomib-based regimen or supportive treatment. We aimed to establish the effects of bortezomib on early mortality and long-term outcomes in this high-risk population. Results: Patients receiving bortezomib-containing chemotherapy (n = 62) and patients receiving no chemotherapy (n = 24) were included. Median overall survival (OS) was 30 months in the bortezomib group and 2 months in the control group (p < .001), and median progression-free survival (PFS) was 15.8 months (bortezomib) and 2 months (control; p < .001). The early-death rate (within 6 months of treatment) was 32.3% (bortezomib) and 66.7% (control; p < .001). In a landmark analysis assessing outcomes in patients surviving beyond 6 months, the 2-year OS and PFS in the bortezomib group were 77.3% and 65.8%, respectively. Conclusions: Bortezomib-based regimens can help to reduce early mortality and improve long-term survival in patients with ultra-high-risk AL amyloidosis.


Assuntos
Bortezomib/uso terapêutico , Amiloidose de Cadeia Leve de Imunoglobulina/tratamento farmacológico , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/mortalidade , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento
9.
J Clin Neurosci ; 66: 156-164, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31088767

RESUMO

BACKGROUND: We studied patients with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) associated with or without lymphoma and measured risk factors suggestive of an underlying lymphoma and follow-up outcomes. METHODS: CLIPPERS patients associated with or without lymphoma were included into this study. Clinical presentations were documented, risk factors suggestive of an underlying lymphoma were tested, and prognostic differences in terms of death were compared. RESULTS: Ten patients had a diagnosis of CLIPPERS associated with lymphoma, with 6 B-cell non-Hodgkin lymphoma, 2 T-cell non-Hodgkin lymphoma and 2 Hodgkin lymphoma. Using multivariate logistic analysis, the following 3 independent risk factors were found to be related to a final diagnosis of lymphoma: hyperreflexia (HR 16.56; 95% CI 1.03-265.29; p = 0.032), elevated protein in CSF (HR 11.59; 95% CI 1.24-108.39; p = 0.047), and recurrences between 2 months and 1 year after treatment (HR 29.27; 95% CI 2.09-409.58; p = 0.012). The model calibration was satisfactory (p = 0.392 with the Hosmer-Lemeshow test), and the discrimination power was good (area under the receiver operating characteristic curve 0.921; p < 0.001, 95% CI 0.826-1.000). Patients with CLIPPERS associated with lymphoma had higher mortality rate and lymphoma was a significant predictor of total mortality (HR 0.040; 95% CI 0.006-0.262; p = 0.001). CONCLUSIONS: Hyperreflexia, elevated protein in CSF and recurrences between 2 months and 1 year after treatment are risk factors suggesting an underlying lymphoma. Relapses during high-dose steroids maintenance therapy can be indicative of lymphoma, too. Patients having CLIPPERS associated with lymphoma have a worse prognosis than those without lymphoma.


Assuntos
Encefalopatias/diagnóstico , Linfoma/diagnóstico , Ponte/patologia , Adulto , Encefalopatias/tratamento farmacológico , Encefalopatias/etiologia , Feminino , Humanos , Inflamação , Linfoma/complicações , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Ponte/diagnóstico por imagem , Esteroides/uso terapêutico
10.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(2): 421-425, 2019 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-30998148

RESUMO

OBJECTIVE: To determine the significance of morphology of bone marrow smear for diagnosis of bone marrow involvement in patients with diffuse large B-cell lymphoma (DLBCL), and to study the morphological characteristics of DLBCL cells involved in bone marrow. METHODS: Four hundred and twenty cases of DLBCL diagnosed at Peking Union Hospital from 2006 to 2016 were analyzed and identified. RESULTS: Blinded analysis of bone marrow smear and bone marrow biopsy data showed involvement in 42 cases on smears (S), in 47cases by biopsy (B) and the in 49 cases by (S+B). There was an excellent correlation between 2 methods diagnosing the bone marrow infiltration of DLBCL independently (κ=0.889). The morphological features of DLBCL cells involved in bone marrow were of medium sizes, round or irregular nuclear. The chromatin presented dark purple rea and coarse granular, and most of them had 1-5 nucleoli. The amount of cytoplasm was moderate with the color of dark blue or greyish blue. Vacuoles and pseudopodia were common. CONCLUSION: The morphological examination of bone marrow cells has a certain role in the diagnosing bone marrow involvement in patients with DLBCL, and the atypical lymphoid cells making up ≥1% of the total nucleated cells highly suggests the bone marrow involvement in the patients with DLBCL.


Assuntos
Medula Óssea , Linfoma Difuso de Grandes Células B , Biópsia , Células da Medula Óssea , Humanos , Linfócitos , Prognóstico
11.
Leuk Res ; 81: 19-24, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30981853

RESUMO

OBJECTIVE: To summarize the clinical features and outcomes in Chinese patients with immunoglobulin light-chain (AL) amyloidosis with ≥10% bone marrow plasma cells (BMPCs). METHODS: We retrospectively compared the clinical features and outcomes between patients with ≥10% BMPCs (high-BMPC group; n = 56) and those with <10% BMPCs (low-BMPC group; n = 311). RESULTS: Patients in the high-BMPC group had significantly higher levels of N-terminal pro-brain natriuretic peptide, significantly lower levels of 24 h urine protein, and significantly higher levels of difference between the involved and uninvolved serum free light chains (485.3 versus 121.1 mg/L, P < 0.001). Patients in the high-BMPC group had significantly higher early mortality within 3 months of diagnosis (21.4% versus 10.9%, P = 0.018). In a 3-month landmark analysis, median progression-free survival durations were 17.3 and 34.5 months (P = 0.01), and the median overall survival durations were 24.4 months and not reached in the high- and low-BMPC groups, respectively (P = 0.005). CONCLUSION: Patients with AL amyloidosis and ≥10% BMPCs have higher mortality within 3 months of diagnosis and poorer prognosis compared with patients with <10% BMPCs.

12.
Leuk Res ; 81: 50-55, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31015152

RESUMO

PURPOSE: To explore the value of elevated CXCL13 levels in Waldenström macroglobulinemia (WM). METHODS: We collected serum samples from 41 patients and bone marrow tissues from 14 patients with newly diagnosed symptomatic WM. Serum and bone marrow samples from patients with other indolent B-cell lymphomas and MGUS were also collected for comparison. Serum CXCL13 levels were measured by enzyme-linked immunosorbent assay, and bone marrow tissues were examined by immunohistochemistry. RESULTS: The median serum level of CXCL13 in patients with symptomatic WM was 2483.0 (range 36.8-5644.0) pg/ml, which was significantly higher than in patients with other indolent B-cell lymphomas with monoclonal IgM (median 380.9 pg/ml, range 23.8-5518.0 pg/ml) (p = 0.01). Serum CXCL13 >3250 pg/ml and serum M-protein >38 g/l diagnosed WM with a sensitivity of 98% and specificity of 85%. Serum CXCL13 was strongly correlated with hemoglobin levels (ρ=-0.46, p = 0.002), serum M-protein (ρ=0.47, p = 0.002), and IgM levels (ρ=0.30, p = 0.05) in patients with symptomatic WM. Immunohistochemistry analysis indicated that CXCL13 and activated mast cell levels were also higher in the bone marrow of WM patients compared to patients with IgM-MGUS or other indolent B-cell lymphomas with monoclonal IgM. CONCLUSIONS: Serum CXCL13 levels were significantly elevated in patients with WM and correlated with tumor load. Detection of serum CXCL13 may therefore be helpful in the differential diagnosis of WM.

13.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 27(1): 80-85, 2019 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-30738451

RESUMO

OBJECTIVE: To investigate the clinical value of erythrocyte life span in the diagnosis and treatment of lymphoma patients with anemia. METHODS: The clinical data of 45 patients with lymphoma diagnosed by Department of Hematology in Beijing Union Hospital from January 2017 to June 2017 were collected. The life of erythrocytes was detected by alveolar gas CO test. RESULTS: The incidence of anemia in patients with malignant lymphoma was 46.7%, 40.0% of patients displayed the shorting of blood cell life and the hemolytic status existed in 15.56% of patients. The incidence of anemia was 47.1% in patients with DLBCL. Patients with B symptoms, bone marrow involvement, splenomegaly or LDH increase often accompanied with anemia, but only the splenomegaly and LDH level were significantly negatively correlated with red blood cell life; there was a significant difference in the effects of CHOP ± R regimen and other chemotherapy regimens (R+MINE/FC/SMILE/GDP) on patients with anemia and erythrocyte life span. CONCLUSION: The incidence of anemia in patients with lymphoma is high, red cell damage or shortened life may be involved in the mechanism of anemia, the use of a strong chemotherapy regimen can significantly shorten the red blood cell life of patients and aggravates anemia.


Assuntos
Anemia , Linfoma/complicações , Anemia/etiologia , Protocolos de Quimioterapia Combinada Antineoplásica , Eritrócitos , Humanos , Expectativa de Vida
14.
Leukemia ; 33(4): 1023-1029, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30700844

RESUMO

POEMS syndrome is a rare plasma cell dyscrasia. This study compared the responses to and survival of 347 POEMS syndrome patients given three first-line treatment regimens: autologous stem cell transplantation (ASCT, N = 165) and melphalan + dexamethasone (MDex, N = 79), or lenalidomide + dexamethasone (LDex, N = 103). After a median 45-month follow-up, overall hematologic complete remission (CRH) was 46.4%, vascular endothelial growth factor complete remission (CRV) was 55.1%, and neurological remission (RN) was 93.8%. CRH was better with ASCT (49.7%) than with MDex (37.7%, p = 0.001). CRV was better with ASCT (66.2%) than with MDex (38.5%, p = 0.001) or LDex (47.7%, p = 0.008). Differences in RN achieved by three regimens (91.5% vs. 100% vs. 93.8%, p = 0.234) were not significant. Overall 3-year progression-free survival (PFS) was 80.5% and overall 3-year overall survival (OS) was 90.8%. PFS was 87.6% with ASCT and 64.9% with LDex (p = 0.003). OS in the three regimens did not differ (p = 0.079). In medium-high risk patients, ASCT had better CRH and CRV than MDex, and better PFS than LDex. Therefore, although all three treatments had reasonable responses and survivals, patients with higher risk may benefit more from ASCT treatment.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Transplante de Células-Tronco Hematopoéticas/mortalidade , Síndrome POEMS/mortalidade , Adulto , Idoso , Terapia Combinada , Dexametasona/administração & dosagem , Feminino , Seguimentos , Humanos , Lenalidomida/administração & dosagem , Masculino , Melfalan/administração & dosagem , Pessoa de Meia-Idade , Síndrome POEMS/patologia , Síndrome POEMS/terapia , Indução de Remissão , Estudos Retrospectivos , Taxa de Sobrevida , Condicionamento Pré-Transplante , Transplante Autólogo , Resultado do Tratamento
15.
Blood ; 133(16): 1720-1728, 2019 04 18.
Artigo em Inglês | MEDLINE | ID: mdl-30760451

RESUMO

Idiopathic multicentric Castleman disease (iMCD) is a rare lymphoproliferative disorder. The anti-interleukin 6 (IL-6) therapy siltuximab is not available everywhere, and is not effective for over one-half of patients. Alternative treatment approaches are urgently needed. In the first iMCD clinical trial directed against a target other than IL-6 signaling, we investigated a thalidomide-cyclophosphamide-prednisone (TCP) regimen in newly diagnosed iMCD patients. This single-center, single-arm, phase 2 study enrolled 25 newly diagnosed iMCD patients between June 2015 and June 2018. The TCP regimen (thalidomide 100 mg daily for 2 years; oral cyclophosphamide 300 mg/m2 weekly for 1 year; prednisone 1 mg/kg twice a week for 1 year) was administered for 2 years or until treatment failure. The primary end point was durable tumor and symptomatic response for at least 24 weeks. Twelve patients (48%) achieved the primary end point with no relapse, 3 patients (12%) demonstrated stable disease, and 10 patients (40%) were evaluated as treatment failure. Even when considering all patients, there were significant (P < .05) improvements in median symptom score, IL-6 level, hemoglobin, erythrocyte sedimentation rate, albumin, and immunoglobulin G. Among responders, the median levels of all evaluated parameters significantly improved, to the normal range, after treatment. The regimen was well tolerated. One patient died of pulmonary infection and 1 patient had a grade 3 adverse event (rash); 2 patients died following disease progression. Estimated 1-year progression-free survival and overall survival were 60% and 88%, respectively. The TCP regimen is an effective and safe treatment of newly diagnosed iMCD patients, particularly when siltuximab is unavailable. This trial was registered at www.clinicaltrials.gov as #NCT03043105.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Hiperplasia do Linfonodo Gigante/tratamento farmacológico , Adulto , Idoso , Hiperplasia do Linfonodo Gigante/mortalidade , Ciclofosfamida/administração & dosagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prednisona/administração & dosagem , Análise de Sobrevida , Talidomida/administração & dosagem , Resultado do Tratamento
16.
J Int Med Res ; 47(4): 1810-1814, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30806107

RESUMO

OBJECTIVE: Kasabach-Merritt syndrome is a rare disease that mainly occurs in infants and adolescents. It usually manifests as disseminated intravascular coagulation and severe bleeding, and is associated with high mortality. However, its low incidence and clinical rarity in adults mean that there is currently no well-verified treatment regimen for this disease. We report on an effective novel therapeutic regimen in a patient with Kasabach-Merritt syndrome. METHODS: A woman with Kasabach-Merritt syndrome presented with a recurrent subcutaneous mass and disseminated intravascular coagulation, and was treated with prednisone, vincristine and thalidomide. RESULTS: This treatment regimen successfully resolved the patient's symptoms, with tumor regression. The patient remained disease-free after 6 years of follow-up. CONCLUSIONS: Prednisone combined with vincristine and thalidomide may be an effective treatment for Kasabach-Merritt syndrome, but further studies are needed to verify the use of this regimen.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Síndrome de Kasabach-Merritt/tratamento farmacológico , Adulto , Feminino , Humanos , Síndrome de Kasabach-Merritt/patologia , Prednisona/administração & dosagem , Prognóstico , Talidomida/administração & dosagem , Vincristina/administração & dosagem
18.
Orphanet J Rare Dis ; 14(1): 11, 2019 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-30630516

RESUMO

BACKGROUND: Erdheim-Chester disease (ECD) is a rare multi-systemic form of histiocytosis. Treatment with BRAF inhibitors has markedly improved outcomes of ECD; however, this targeted therapy is expensive (estimated annual cost is $50,000). Since estimated annual cost of interferon-α (IFN-α) is only approximately $1600 in China, we retrospectively evaluated the long-term therapeutic efficacy of IFN-α and the value of 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) as an assessment method among 32 ECD patients who received high dose IFN-α therapy at Peking Union Medical College Hospital. RESULTS: The median age at diagnosis was 48 years (range, 6-66 years). The median duration of treatment was 18.5 months (range, 1-51 months). The overall clinical response rates were 80.0%, including 33.3% complete response, 36.7% partial response and 10.0% stable disease. Thirty-one patients underwent a total of 81 scans by FDG-PET. Seventeen patients had serial FDG-PET results, nine patients had experienced a partial metabolic response at the last follow-up. The median reduction of ratios between the most active target lesion standardized uptake value (SUV) and liver SUV from baseline to last FDG-PET scan was 61.4% (range, 8.8-86.6%). Eight of thirteen patients who experienced continuous clinical improvement during follow-up had at least one target lesion SUV increased by FDG-PET which decreased in subsequent scans without changing treatment strategy. The estimated 3-year progression-free survival (PFS) and overall survival (OS) were 64.1 and 84.5%, respectively. Central nervous system (CNS) involvement was the only predictor for poor PFS and OS. CONCLUSIONS: High-dose IFN-α treatment is a cost-effective option, especially for patients without CNS involvement. Single target lesion SUV elevation according to FDG-PET do not accurately demonstrate disease progression, but serial FDG-PET imaging effectively discriminate treatment response.


Assuntos
Doença de Erdheim-Chester/diagnóstico por imagem , Doença de Erdheim-Chester/tratamento farmacológico , Interferon-alfa/uso terapêutico , Tomografia por Emissão de Pósitrons/métodos , Adolescente , Adulto , Idoso , Criança , Doença de Erdheim-Chester/genética , Doença de Erdheim-Chester/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Intervalo Livre de Progressão , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Retrospectivos , Adulto Jovem
19.
Ann Hematol ; 98(5): 1095-1100, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30511139

RESUMO

Light chain-associated Fanconi syndrome (LCFS) is a disorder of renal proximal tubule due to immunoglobulin light chains. Cases of LCFS are rare and mostly sporadically reported, and treatment of this entity is still controversial. This single-center retrospective study included 22 patients diagnosed with LCFS in Peking Union Medical College Hospital. Monoclonal gammopathy of undetermined significance was diagnosed in 13 patients, and overt multiple myeloma in six patients, with two smoldering myeloma and one Waldenstrom macroglobulinemia. Light chain was mostly kappa type (90.9%). Baseline median estimated glomerular filtration rate was 66 (13-126) ml/min/1.73 m2, with one patient presented as end-stage renal disease. After a median follow-up of 37 months, three patients died. Twelve patients were treated with chemotherapy, including 7 with bortezomib-based regimens. Renal function was significantly improved in the group of patients who received chemotherapy (p = 0.026). Compared with other chemotherapy regimens, patients with bortezomib-based treatment had a better hematological response (p = 0.027) as well as a better proximal tubule outcome (p = 0.015). Chemotherapy likely outweighs supportive treatment in patients with LCFS. Bortezomib-based regimen seems to be a safe first-line therapy for management of those patients.


Assuntos
Bortezomib/administração & dosagem , Síndrome de Fanconi , Taxa de Filtração Glomerular , Túbulos Renais/fisiopatologia , Adulto , Idoso , Bortezomib/efeitos adversos , Síndrome de Fanconi/tratamento farmacológico , Síndrome de Fanconi/fisiopatologia , Feminino , Seguimentos , Humanos , Cadeias Leves de Imunoglobulina , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/tratamento farmacológico , Mieloma Múltiplo/fisiopatologia , Estudos Retrospectivos , Macroglobulinemia de Waldenstrom/tratamento farmacológico , Macroglobulinemia de Waldenstrom/fisiopatologia
20.
Can J Cardiol ; 34(12): 1688.e9-1688.e11, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30527170

RESUMO

Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis and inflammatory myeloid neoplasm with poor prognosis. Symmetric long bone osteosclerosis occurs in nearly all patients, but other organs are often involved. Coronary artery involvement is rare, but was encountered in a patient who experienced angina. Radiologic presentation and histologic findings were consistent with diagnosis of ECD. A soft-tissue mass was found surrounding the right atrium, ascending aorta, and all branches of coronary artery. Interferon-alfa treatment was successful. In conclusion, we recommend coronary artery computed tomography angiography for cardiovascular evaluation of ECD and interferon-alfa to treat ECD.


Assuntos
Vasos Coronários/diagnóstico por imagem , Doença de Erdheim-Chester/diagnóstico , Adulto , Angina Pectoris/etiologia , Angiografia por Tomografia Computadorizada , Doença de Erdheim-Chester/tratamento farmacológico , Átrios do Coração/diagnóstico por imagem , Humanos , Fatores Imunológicos/uso terapêutico , Interferon-alfa/uso terapêutico , Masculino
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