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A 47-year-old woman presented with subcutaneous hemorrhage. Blood tests revealed leukoerythroblastosis, anemia, and thrombocytopenia. Bone marrow biopsy led to a diagnosis of primary myelofibrosis (aaDIPSS, DIPSS-plus: intermediate-II risk). JAK2, CALR, and MPL mutations were not detected in peripheral blood, but targeted sequencing of bone marrow specimens revealed a double mutation (Q157R, S34F) in U2AF1. Allo-PBSCT was performed using an HLA-matched related donor, and post-transplantation bone marrow examination showed complete donor chimerism on day 55. Two years after allogeneic transplantation, the patient remains relapse-free. Although U2AF1 gene abnormality is known as a poor prognostic factor in primary myelofibrosis, this patient had a favorable long-term prognosis due to prompt transplantation therapy. This case highlights the importance of detailed gene mutation analysis in patients with triple-negative MF.
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Mielofibrosis Primaria , Femenino , Humanos , Persona de Mediana Edad , Mielofibrosis Primaria/genética , Mielofibrosis Primaria/terapia , Mielofibrosis Primaria/diagnóstico , Factor de Empalme U2AF/genética , Mutación , Médula Ósea/patología , Trasplante Homólogo , Janus Quinasa 2/genética , Calreticulina/genéticaRESUMEN
Antifungal prophylaxis is crucial for successful hematopoietic stem cell transplantation (HSCT). Maintenance therapy with fluconazole (FLCZ) is generally prescribed as secondary prophylaxis in patients with human immunodeficiency virus infection and non-immunocompromised hosts. However, previous reports have revealed that FLCZ is insufficient as a secondary prophylaxis for cryptococcal infection in HSCT cases. There is no well-established evidence of effective secondary prophylaxis against cryptococcal infection in conditions of severe immunosuppression, such as in HSCT. Herein, we report a case of atypical chronic myeloid leukemia (aCML) presenting with cryptococcal meningitis. A 58-year-old man with progressive leukocytosis and headache was referred to our hospital. Bone marrow biopsy revealed aCML. Because the estimated overall survival was limited, HSCT was indicated. Furthermore, enhanced magnetic resonance imaging and lumbar puncture aided in diagnosing cryptococcal meningitis, which was treated with a combination therapy comprising liposomal amphotericin B and 5-fluorocystine for 28 days. Given the high recurrence rate of cryptococcal meningitis, voriconazole (VRCZ) dose was calculated using the trough concentration of VRCZ in the cerebrospinal fluid. Eventually, HSCT was successfully performed at an appropriate therapeutic range of VRCZ. To the best of our knowledge, there is no case report on HSCT with secondary prophylaxis against cryptococcal meningitis. Our report thus emphasizes the efficacy of VRCZ maintenance therapy as secondary prophylaxis for cryptococcal infection.
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Immunotactoid glomerulopathy (ITG) is characterized by Congo red-negative microtubular deposits, and it has been reported as a rare paraneoplastic syndrome due to hematologic malignancies, viral infections, or autoimmune diseases. In hematologic malignancies, multiple myeloma and other mature B-cell malignancies are the most common hematologic malignancies, and Hodgkin lymphoma (HL) is extremely rare. A 59-year-old woman was admitted to our hospital because of a pulmonary mass and proteinuria. Computed tomography-guided lung biopsy confirmed the presence of HL stage IIA. Immunofixation of peripheral blood was positive for immunoglobulin G (IgG) kappa. Renal biopsy showed mesangial proliferation with deposits in the subendothelial lesion and no invasion of the HL. These deposits were positive for IgG3, C3, and kappa light chain but negative for C1q and lambda light chain. Electron microscopy showed randomly aligned tubular structures with a diameter of approximately 50 nm. We diagnosed the patient with immunotactoid nephropathy and HL. After systemic chemotherapy, the patient achieved a complete response and loss of proteinuria. On the contrary, her serum monoclonal gammopathy was observed after chemotherapy. The existence of a monoclonal antibody itself might not be a sufficient factor for ITG in some cases, and an additive trigger is necessary for development.
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A 59-year-old woman was referred by her family doctor to our hospital owing to anemia, nausea, and malaise. She was diagnosed with primary plasma cell leukemia based on her laboratory and morphologic findings. She was treated with high dose of dexamethasone; cyclophosphamide, bortezomib, and dexamethasone; and carfilzomib, lenalidomide, and dexamethasone. She achieved partial treatment response. We switched her treatment to daratumumab, lenalidomide, and dexamethasone (DRd) owing to progression of peripheral neuropathy. Bone marrow examination performed after 15 courses of DRd revealed minimal residual disease-negative status. Sequential multidrug combination chemotherapies may be related to long-term successful disease control.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Leucemia de Células Plasmáticas , Anticuerpos Monoclonales , Bortezomib/uso terapéutico , Dexametasona/uso terapéutico , Femenino , Humanos , Lenalidomida/uso terapéutico , Leucemia de Células Plasmáticas/tratamiento farmacológico , Persona de Mediana Edad , Inhibidores de Proteasoma/uso terapéuticoRESUMEN
A 64-year-old woman was infected with hepatitis E virus (HEV) during chemotherapy for leukemia. By retrospective analyses of stored serum from the blood products and the patient, the source of the infection was determined to be platelet concentration (PC) transfused during chemotherapy. The partial nucleotide sequence of the HEV strain isolated from the donated PC and that from the patient's sera was identical and was subgenotype 3b. Clinical indicators such as alanine aminotransferase, HEV RNA titer, and anti-HEV antibodies in the serum were investigated from the beginning of the infection until 1 year after the termination of HEV infection. HEV RNA had propagated over 6 months and then cleared spontaneously after the completion of chemotherapy. Anti-HEV antibodies appeared in the serum just before the clearance of HEV RNA. Interestingly, HEV RNA was detected in the patient's urine, spinal fluid, and saliva. The HEV RNA titers in those samples were much lower than in the serum and feces. No renal, neurological, or salivary gland disorders appeared during the follow-up. We observed virological and biochemical progress and cure of transfusion-transmitted chronic hepatitis E in the patient despite an immunosuppressive status during and after chemotherapy against hematological malignancy.
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Anticuerpos Antihepatitis/sangre , Virus de la Hepatitis E/inmunología , Hepatitis E/sangre , Hepatitis E/transmisión , Leucemia Mieloide Aguda/sangre , Leucemia Mieloide Aguda/tratamiento farmacológico , Transfusión de Plaquetas/efectos adversos , Enfermedad Crónica , Femenino , Humanos , Persona de Mediana Edad , Remisión EspontáneaRESUMEN
Immune thrombocytopenic purpura (ITP) typically presents with bleeding due to immunologic thrombocytopenia. Severe hemorrhage due to ITP is sometimes lethal, and the urgent recovery of platelets is necessary. In addition to conventional therapeutic strategies, romiplostim shows promising efficacy for chronic ITP. However, there is little evidence for the utilization of this treatment for acute ITP or acute exacerbation of chronic ITP. We report the case details of three elderly ITP patients presenting with lethal diffuse alveolar hemorrhage. These patients had the following underlying pulmonary diseases: case 1, nontuberculous mycobacterial infection and sarcoidosis; case 2, cryptogenic organizing pneumonia; case 3, pulmonary emphysema. These patients recovered following treatment with romiplostim at a higher dose (10 µg/kg), in addition to conventional therapies including corticosteroids and high-dose intravenous immunoglobulin. In summary, the addition of romiplostim resulted in earlier recovery of thrombocytopenia than has been previously reported. Our three cases suggest that early romiplostim at a higher dose could be an efficacious therapeutic option for acute ITP patients with severe lethal bleeding.
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BACKGROUND: Tyrosine kinase inhibitors markedly improve the survival for patients with chronic myeloid leukemia (CML). However, a decrease in adherence leads to undesired therapeutic outcomes. In this study, the relationships among adherence, pharmacokinetics, response, and adverse effects for dasatinib treatment were prospectively investigated. METHODS: This study was a prospective cohort study of patients with newly diagnosed CML at 4 general hospitals and 1 university hospital. Patients started to receive dasatinib 100 mg once daily. A Medication Event Monitoring System was used to assess medication adherence and the medication possession ratio during the 12 months. Plasma concentrations of dasatinib were measured using liquid chromatograph-tandem mass spectrometry (LC-MS/MS), and therapy responses were assessed at 3, 6, and 12 months after treatment. RESULTS: Ten patients were included. An extremely high medication adherence for dasatinib was observed; the median medication possession ratio was 99.4%. All 9 CML patients with breakpoints in the major BCR-ABL achieved major molecular response (MMR; major BCR-ABL transcript level below 0.1% on the International Scale) within 12 months, and 5 achieved MMR within 6 months. The receiver operating characteristic curve analysis revealed that the cutoff value for the dasatinib area under the concentration-time curve was 336.1 ng × h/mL (accuracy 88.9%, sensitivity 80.0%, specificity 100%, and receiver operating characteristic curve-area under the concentration-time curve 0.800) for achieving MMR within 6 months. Two patients had interrupted dasatinib treatment because of pleural effusion and diarrhea with intestinal edema, respectively. These edematous adverse events developed after plasma dasatinib Cmin surpassed 3.0 ng/mL. CONCLUSIONS: A Medication Event Monitoring System was applied for the direct evaluation of oral dasatinib adherence for the first time, and the clinical effect of dasatinib was investigated under the strict monitoring of patient adherence. Although this study had a small sample size, the plasma concentration monitoring of dasatinib is considered to be useful to predict an earlier molecular response with fewer edematous adverse events.
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Dasatinib/farmacocinética , Dasatinib/uso terapéutico , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/farmacocinética , Inhibidores de Proteínas Quinasas/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Pueblo Asiatico , Cromatografía Liquida/métodos , Femenino , Proteínas de Fusión bcr-abl/metabolismo , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/metabolismo , Masculino , Cumplimiento de la Medicación , Persona de Mediana Edad , Proyectos Piloto , Estudios Prospectivos , Espectrometría de Masas en Tándem/métodosRESUMEN
BACKGROUND: Hodgkin lymphoma usually presents with sequential enlargement of peripheral lymph nodes, and bone marrow invasion rarely occurs (approximately 3-5%). However, several cases have been reported as "primary" bone marrow Hodgkin lymphoma, especially among patients with human immunodeficiency virus and the elderly. This type of Hodgkin lymphoma is characterized by no peripheral lymphadenopathies and has been reported to have poorer prognosis. CASE PRESENTATION: A 38-year-old Japanese man was admitted to our hospital because of fever of unknown origin and pancytopenia without lymphadenopathies. Bone marrow examination revealed Hodgkin cells mimicking abnormal cells. These were positive for CD30, EBER-1, CD15, PAX-5, and Bob-1 and negative for Oct-2, CD3, CD20, surface immunoglobulin, CD56. On the basis of systemic evaluation and bone marrow examination, he was diagnosed with primary bone marrow Hodgkin lymphoma. We initiated therapy with DeVIC (dexamethasone, etoposide, ifosfamide, and carboplatin) therapy, but remission was not achieved. Then, the patient was treated with brentuximab vedotin combined with systemic chemotherapy (Adriamycin, vinblastine and dacarbazine), which was effective. CONCLUSIONS: There is no established treatment strategy for Hodgkin lymphoma, and therapeutic outcomes using ABVD (Adriamycin, bleomycin, vinblastine and dacarbazine)-like or CHOP (cyclophosphamide, Adriamycin, vincristine, and prednisone)-like regimens are reportedly poor. Only a few patients have been reported to achieve long-term remission. Through this case report, we suggest an alternative therapeutic option for primary bone marrow Hodgkin lymphoma.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Médula Ósea/tratamiento farmacológico , Enfermedad de Hodgkin/tratamiento farmacológico , Inmunoconjugados/administración & dosificación , Adulto , Brentuximab Vedotina , Carboplatino/uso terapéutico , Dacarbazina/administración & dosificación , Dexametasona/uso terapéutico , Doxorrubicina/administración & dosificación , Etopósido/uso terapéutico , Humanos , Ifosfamida/uso terapéutico , Masculino , Vinblastina/administración & dosificaciónRESUMEN
The gain-of-function variation p.I1157T in C3 was previously identified in 8 patients with atypical hemolytic uremic syndrome (aHUS) at Mie University Hospital. In the present study, we identified another 11 patients with aHUS with this variation, including 10 pediatric patients (onset age: 1-16 years). The variation seems to be geographically concentrated around Mie Prefecture in Japan. Fifteen of the 19 patients with aHUS experienced infection as probable triggering events. All 19 patients had renal dysfunction. Seven patients, including 2 from the previous study and 5 from the present study, were treated with eculizumab, with all showing a good response with hematological normalization. Among the 5 eculizumab-treated patients in the present study, 3 had an ambiguous diagnosis of aHUS due to low-grade hemolysis even with elevated levels of lactate dehydrogenase and bilirubin. In those cases, in-house targeted DNA sequencing identified the C3 p.I1157T variation carriers, which enabled the early initiation of treatment with eculizumab. The present study supports the early introduction of eculizumab in patients with aHUS, especially pediatric patients.
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Anticuerpos Monoclonales Humanizados/administración & dosificación , Síndrome Hemolítico Urémico Atípico , Complemento C3/genética , Variación Genética , Adolescente , Adulto , Anciano , Síndrome Hemolítico Urémico Atípico/tratamiento farmacológico , Síndrome Hemolítico Urémico Atípico/epidemiología , Síndrome Hemolítico Urémico Atípico/genética , Niño , Preescolar , Femenino , Humanos , Lactante , Japón/epidemiología , MasculinoRESUMEN
INTRODUCTION: Breast cancer patients often receive anthracycline-based chemotherapy, and chemotherapy-induced nausea and vomiting (CINV) remains one of the most uncomfortable and distressing adverse reactions. Poor control of CINV reduces the relative dose intensity of chemotherapy agents, which has been associated with poor clinical outcomes and shorter survival. The aim of the present study was to identify genetic risk factors associated with anthracycline-based CINV. PATIENTS AND METHODS: We evaluated CINV attributable to anthracycline-based chemotherapy in Japanese breast cancer patients treated with an antiemetic regimen that included palonosetron, aprepitant, and dexamethasone. Furthermore, we investigated the associations between CINV and single nucleotide polymorphisms in 6 candidate genes. RESULTS: Emesis episodes were rarely observed in the 125 patients included in the present survey (7.2%; n = 9); however, significant nausea occurred in more than one half of the patients (52.8%; n = 66). In particular, acute significant nausea was not effectively controlled. Multivariate logistic regression analysis revealed that the ABCG2 (rs2231142) AA genotype is significantly associated with acute significant nausea (odds ratio, 4.87; 95% confidence interval, 1.01-23.60; P = .049). CONCLUSION: The findings of the present study provide significant insights for developing personalized antiemetic strategies for breast cancer patients receiving anthracycline-based chemotherapy.
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Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 2/genética , Antibióticos Antineoplásicos/efectos adversos , Antieméticos/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Náusea/genética , Proteínas de Neoplasias/genética , Adulto , Antraciclinas/efectos adversos , Aprepitant/uso terapéutico , Neoplasias de la Mama/genética , Dexametasona/uso terapéutico , Femenino , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Náusea/inducido químicamente , Náusea/tratamiento farmacológico , Náusea/epidemiología , Oportunidad Relativa , Palonosetrón/uso terapéutico , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , Factores de Riesgo , Resultado del Tratamiento , Vómitos/inducido químicamente , Vómitos/tratamiento farmacológico , Vómitos/epidemiología , Vómitos/genéticaRESUMEN
Tumor lysis syndrome (TLS) is an oncological emergency caused by massive cytolysis of malignant cells. This syndrome eventually induces metabolic abnormalities. TLS is observed mainly among tumors with rapid cell proliferation or high sensitivity to antineoplastic treatment. In rare cases, TLS occurs without any cytotoxic treatment. Previous reports have shown that alternative stress including proceeding infection or an operation might play a role in TLS. However, exact mechanism of spontaneous TLS remains unknown. Here, we describe a case of a 59-year-old woman who presented with dedifferentiated endometrial adenocarcinoma and developed TLS without any cytotoxic chemotherapy. Although spontaneous TLS in solid malignancies are extremely rare, clinicians should consider the possibilities of TLS especially in aggressive solid tumors.
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BACKGROUND: Transfusion-mediated human parvovirus B19 (PVB19) infection is rare but often causes severe hematologic disorders. In Japan, routine blood donor screening for PVB19 antigen (detection sensitivity, 106.4 IU/mL) using a chemiluminescent enzyme immunoassay (CLEIA) was introduced in 2008. However, there is no consensus on the minimal infectious dose of PVB19 permissible for red blood cells (RBCs). CASE REPORT: A 64-year-old man, who had received hemodialysis for diabetic nephropathy for 5 years, underwent an RBC transfusion for anemia caused by hemorrhagic enterocolitis. He developed persistent high fever and progressive thrombocytopenia. He was diagnosed with PVB19 infection when a marrow examination showed giant erythroblasts, and his serum was positive for PVB19 DNA. His serum was negative for PVB19 immunoglobulin (Ig)M and IgG before transfusion, but positive for both after transfusion. This PVB19 infection was deemed to be transmitted by the RBC transfusion because low levels of PVB19 DNA (1.10 × 104 IU/mL) were detected in one of the blood donors. A DNA homology test of PVB19 showed complete genomic identity between the virus in the donor and our patient. CONCLUSION: We report a patient who developed persistent PVB19 infection from an RBC transfusion containing low levels of PVB19. This is the second case of transfusion-mediated PVB19 infection since the introduction of CLEIA in 2008. Transmission may occur in immunocompromised patients lacking PVB19-neutralizing antibodies. The report of further such cases will allow the establishment of minimal threshold values and more effective screening tests for PBV19 transmission through RBC products.
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Transfusión de Eritrocitos , Infecciones por Parvoviridae/patología , Infecciones por Parvoviridae/terapia , Parvovirus B19 Humano/patogenicidad , Trombocitopenia/patología , Trombocitopenia/terapia , ADN Viral/genética , Humanos , Técnicas para Inmunoenzimas , Masculino , Persona de Mediana Edad , Parvovirus B19 Humano/genéticaRESUMEN
Acute retinal necrosis (ARN) is an infectious retinitis caused by varicella zoster virus (VZV), herpes simplex or cytomegalovirus. Without systemic therapy, ARN may progress bilaterally in seventy percent of unilateral patients. A 38-year-old-man was admitted to our hospital with Hodgkin's lymphoma and hemophagocytic lymphohistiocytosis. During the chemotherapy, left facial herpes zoster developed. He received valacyclovir for 14 days. After improvement of the blisters, he continued acyclovir as secondary prophylaxis. Three weeks after the facial zoster, sudden visual loss in the left eye occurred. ARN induced by VZV was diagnosed with ophthalmoscopy and the polymerase chain reaction test of the anterior chamber. Because continuous chemotherapy for Hodgkin's lymphoma was needed, he continued valacyclovir as secondary prophylaxis for 6 months and he accomplished the chemotherapy without contralateral progression. Our case suggested the utility of valacyclovir for secondary prophylaxis. Further experiments would be required to establish secondary prophylaxis in immunocompromised patients.
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Antivirales/uso terapéutico , Síndrome de Necrosis Retiniana Aguda/tratamiento farmacológico , Valaciclovir/uso terapéutico , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Enfermedad de Hodgkin/tratamiento farmacológico , Humanos , Masculino , Síndrome de Necrosis Retiniana Aguda/complicacionesRESUMEN
Crystal-storing histiocytosis (CSH) is characterized by the accumulation of large histiocytes with intracytoplasmic crystallized immunoglobulin and is typically associated with hematological malignancies. A 69-year-old man, who had a history of left nephrectomy and chemotherapy for renal pelvic cancer six years earlier, had received a CT scan every year thereafter and a small nodule was found in the left lower lobe of his lungs two years prior to the current presentation. Because of progression of this pulmonary nodule, he underwent pulmonary lobectomy on suspicion of lung cancer. He was ultimately diagnosed as having CSH accompanied by mucosa-associated lymphoid tissue lymphoma stage IAE. In the absence of further treatment, he has been well with no recurrence of the disease for 10 months postoperatively. Because CSH could reportedly be an initial presentation of hematological malignancies, careful observation and evaluation for the presence of these blood disorders is essential.
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Histiocitosis/etiología , Neoplasias Pulmonares/diagnóstico por imagen , Linfoma de Células B de la Zona Marginal/diagnóstico por imagen , Anciano , Humanos , Neoplasias Pulmonares/complicaciones , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Linfoma de Células B de la Zona Marginal/complicaciones , Linfoma de Células B de la Zona Marginal/cirugía , Masculino , Tomografía Computarizada por Tomografía de Emisión de Positrones , Resultado del TratamientoRESUMEN
Superior sagittal sinus thrombosis (SSST) is a very rare but life-threatening complication in leukemia patients. SSST is very rare in acute myeloid leukemia (AML). In leukemia patients, several risk factors for SSST have been reported such as administration of L-asparaginase, disseminated intravascular coagulation, congenital thrombophilia, meningeal leukemia, and intrathecal chemotherapy (IT). Lumbar puncture itself and corticosteroid administration have also been acknowledged as risk factors. We describe herein our clinical experience with SSST in a 29-year-old Japanese man suffering from AML with t(8;21)(q22;q22), who presented with abrupt onset of loss of consciousness, left hemiplegia, and seizure soon after IT and high-dose cytarabine (HD-AraC) with dexamethasone for post remission consolidation. Despite the presence of intracranial hemorrhage (ICH) due to SSST rupture, we conducted anticoagulant therapy with heparin. Although ICH worsened temporarily, his clinical condition gradually improved with resolution of the SSST, and he eventually became fully ambulatory. There were no deficiencies of natural anticoagulants. Three additional cycles of HD-AraC without IT therapy were conducted, but no neurological complications recurred with the concomitant use of warfarin. He was discharged free of neurological deficits. In our case, there is a possibility that IT and the administration of corticosteroids along with HD-AraC triggered SSST.
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Citarabina/efectos adversos , Leucemia Mieloide Aguda/tratamiento farmacológico , Trombosis del Seno Sagital/tratamiento farmacológico , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Cromosomas Humanos Par 21 , Cromosomas Humanos Par 8 , Citarabina/administración & dosificación , Humanos , Infusiones Intravenosas , Masculino , Inducción de Remisión , Trombosis del Seno Sagital/inducido químicamenteAsunto(s)
Expresión Génica , Reordenamiento Génico , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/metabolismo , Factor de Transcripción PAX5/genética , Proteínas Tirosina Quinasas Receptoras/metabolismo , Receptores de Antígenos de Linfocitos T gamma-delta/genética , Quinasa de Linfoma Anaplásico , Humanos , Inmunohistoquímica , Ganglios Linfáticos/metabolismo , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Biopsia del Ganglio Linfático CentinelaRESUMEN
OBJECTIVES: Malignant cells of mature B-cell origin show tumor-specific clonal immunoglobulin gene (IG) rearrangements, including V(D)J recombinations, nucleotide mutations, or translocations. Rapid molecular cloning of the breakpoint sequence by long-distance inverse PCR (LDI-PCR) has so far been applied to rearrangements targeted to IGH joining, IGH switch, and IGκ regions. We tended to apply LDI-PCR method for cloning of IGλ rearrangements. METHODS: To identify which IGλ isotype segment was rearranged, we performed Southern blot analysis using isotype-specific probes. We set inverse primers on the telomeric side of each joining region and amplified rearranged bands detected by Southern blot analysis as corresponding PCR products. RESULTS: All germline IGλ segments were successfully amplified as expected PCR products. We determined breakpoint sequences of five chromosome translocations involving IGλ locus: three novel t(8;22)(q24;q11), one known t(3;22)(q27;q11), and one partially known t(11;22)(q13;q11). Two of the three t(8;22)(q24;q11) were involved in Jλ with a recombination signal sequence and one of three in the first exon of IGLL5, which lies upstream of Jλ1. Three 8q24 breakpoints were widespread at 132, 260 and 366 kb downstream of MYC locus. The t(3;22)(q27;q11) showed a juxtaposition of Jλ2 and the first intron of BCL6, as previously reported. In t(11;22)(q13;q11), 3'UTR of cyclin D1 fused to the constant region of λ7 with nucleotide mutations. We also amplified four Vλ/Jλ recombination sequences. CONCLUSION: Our method is a useful tool for molecular analysis of genetic events in IGλ.
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Clonación Molecular/métodos , Reordenamiento Génico de Cadena Ligera de Linfocito B , Cadenas lambda de Inmunoglobulina/genética , Reacción en Cadena de la Polimerasa , Secuencia de Bases , Puntos de Rotura del Cromosoma , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 8 , Humanos , Datos de Secuencia Molecular , Alineación de Secuencia , Translocación GenéticaAsunto(s)
Linfoma Extranodal de Células NK-T/patología , Neoplasias Orbitales/patología , Corticoesteroides/uso terapéutico , Anciano , Médula Ósea/patología , Resultado Fatal , Femenino , Humanos , Inflamación/tratamiento farmacológico , Inflamación/patología , Linfoma Extranodal de Células NK-T/tratamiento farmacológico , Células T Asesinas Naturales/patología , Neoplasias Orbitales/tratamiento farmacológicoAsunto(s)
Anemia Refractaria con Exceso de Blastos/terapia , Trasplante de Médula Ósea , Infecciones por Virus de Epstein-Barr , Herpesvirus Humano 4 , Neoplasias Primarias Secundarias/patología , Plasmacitoma/patología , Anemia Refractaria con Exceso de Blastos/metabolismo , Anemia Refractaria con Exceso de Blastos/patología , Pueblo Asiatico , Humanos , Japón , Masculino , Persona de Mediana Edad , Neoplasias Primarias Secundarias/metabolismo , Neoplasias Primarias Secundarias/terapia , Plasmacitoma/terapia , Trasplante HomólogoRESUMEN
We encountered a case of acute myeloblastic leukemia (AML), with extramedullary leukemia (EML) and a masked type of the variant translocation t(8;21)(q22;q22). Morphologically, the AML M2 subtype according to the French-American-British (FAB) classification was present. Phenotypically, leukemic cells were negative for CD19 and positive for CD56. Clinically, the case showed chemo-refractoriness and a poor outcome. The initial karyotypic interpretation was t(8;9)(q22;q34) on G-banding. Multiplex-fluorescence in situ hybridization (multiplex-FISH) analysis revealed a three-way translocation involving chromosomes 8, 9, and 21, and identified a masked type of variant t(8;21)q22;q22) translocation. The karyotype was finally determined as 45,X,-Y,der(8)t(8;21)(q22;q22), der(9)(8;9)(q22;q34), and der(21)t(9;21)(q34;q22). Results of FISH using the AML1/ETO probe and detection of the AML1/ETO fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) support the karyotype as well as the sequence of the PCR product. Additionally, C-KIT mutation was detected.