RESUMO
We described four patients with diffuse large B-cell lymphoma (DLBCL) carrying t(9;14)(p13;q32) that places the PAX5 adjacent to the immunoglobulin heavy chain (IGH) gene. Ages ranged between 63 and 80, and three were female. One developed a nodal disease, and the other three involved extranodal organs. The lymphoma cells were CD10- /BCL6- /MUM1+ in three and CD10+ /BCL6+ /MUM1+ in one. BCL2 was weak or negative. All had t(9;14)(p13;q32), and three had additional 14q32/IGH translocations or +der(14)t(9;14)(p13;q32). Fluorescence in situ hybridization using the PAX5 break-apart probe showed that the locus was disrupted between the 5' and 3' probes or within the 5' probe. Immunohistochemistry (IHC) using a monoclonal antibody against PAX5 showed strong nuclear positivity in all four patients. Cell block IHC of a CD30+ DLBCL cell line, KIS-1, which carried the t(9;14)(p13;q32) and PAX5-IGH fusion gene, reproduced the CD10- /BCL6- /MUM1+ immunophenotype, low-level BCL2, and strong nuclear PAX5. Uniform nuclear positivity of MUM1 in all four cases and KIS-1 cells suggest that these lymphomas arose at a late stage of B-cell differentiation, where expression of PAX5 physiologically becomes downregulated. It is therefore possible that high-level PAX5 resulting from t(9;14)(p13;q32) at this stage of differentiation perturbs the plasma cell differentiation program initiated by PAX5 repression, thereby contributing to the development of a fraction of DLBCL.
Assuntos
Núcleo Celular/metabolismo , Cadeias Pesadas de Imunoglobulinas/genética , Imuno-Histoquímica/métodos , Fatores Reguladores de Interferon/metabolismo , Linfoma Difuso de Grandes Células B/patologia , Fator de Transcrição PAX5/metabolismo , Translocação Genética , Idoso , Idoso de 80 Anos ou mais , Núcleo Celular/genética , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 9/genética , Feminino , Humanos , Fatores Reguladores de Interferon/genética , Linfoma Difuso de Grandes Células B/genética , Linfoma Difuso de Grandes Células B/metabolismo , Masculino , Pessoa de Meia-Idade , Fator de Transcrição PAX5/genética , PrognósticoRESUMO
BACKGROUND: Botrytis species are well known fungal pathogens of various plants but have not been reported as human pathogens, except as allergenic precipitants of asthma and hypersensitivity pneumonitis. CASE PRESENTATION: The asymptomatic patient was referred because of a nodule revealed by chest X-ray. Computed tomography (CT) showed a cavitary nodule in the right upper lobe of the lung. He underwent wedge resection of the nodule, which revealed necrotizing granulomas and a fungus ball containing Y-shaped filamentous fungi, which was confirmed histopathologically. Culture of the specimen yielded white to grayish cotton-like colonies with black sclerotia. We performed multilocus gene sequence analyses including three single-copy nuclear DNA genes encoding glyceraldehyde-3-phosphate dehydrogenase, heat-shock protein 60, and DNA-dependent RNA polymerase subunit II. The analyses revealed that the isolate was most similar to Botrytis elliptica. To date, the pulmonary Botrytis sp. infection has not recurred after lung resection and the patient did not require any additional medication. CONCLUSIONS: We report the first case of an immunocompetent patient with pulmonary Botrytis sp. infection, which has not recurred after lung resection without any additional medication. Precise evaluation is necessary for the diagnosis of pulmonary Botrytis infection because it is indistinguishable from other filamentous fungi both radiologically and by histopathology. The etiology and pathophysiology of pulmonary Botrytis infection remains unclear. Further accumulation and analysis of Botrytis cases is warranted.
Assuntos
Botrytis/patogenicidade , Pneumopatias Fúngicas/diagnóstico por imagem , Pneumopatias Fúngicas/microbiologia , Biópsia , Botrytis/genética , Proteínas Fúngicas/genética , Humanos , Pneumopatias Fúngicas/patologia , Pneumopatias Fúngicas/cirurgia , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: Active surveillance has emerged as an alternative to immediate treatment in men with favorable-risk prostate cancer; however, consensus about defining the appropriate candidates is still lacking. To examine the factors predicting unfavorable pathology among active surveillance candidates, we assessed low-risk radical prostatectomy specimens. METHODS: This retrospective study included 1753 men who had undergone radical prostatectomy at six independent institutions in Japan from 2005 to 2011. Patients who met the active surveillance criteria were categorized depending on the pathological features of the radical prostatectomy specimens. 'Reclassification' was defined as upstaging (≥pT3) or upgrading (radical prostatectomy Gleason score ≥7), and 'adverse pathology' was defined as pathological stage ≥pT3 or radical prostatectomy Gleason score ≥4 + 3. Multivariate analysis was used to analyze the preoperative factors for reclassification and adverse pathology. The rates of reclassification and adverse pathology were evaluated by classifying patients according to biopsy core numbers. RESULTS: The active surveillance criteria were met by 284 cases. Reclassification was identified in 154 (54.2%) cases, while adverse pathology in 60 (21.1%) cases. Prostate-specific antigen density and percentage of positive cores were independently associated with reclassification and adverse pathology. The rates of reclassification and adverse pathology were significantly higher among patients with <10 biopsy cores than among others. Thus, focusing on 149 patients with ≥10 biopsy cores, prostate-specific antigen density was the only independent predictor of unfavorable pathological features. The receiver operating characteristic curve analysis determines an optimal cut-off value of prostate-specific antigen density as 0.15 ng/ml2. CONCLUSIONS: Prostate-specific antigen density is the most important predictor of unfavorable pathological features in active surveillance candidates.
Assuntos
Neoplasias da Próstata/patologia , Idoso , Área Sob a Curva , Humanos , Japão , Modelos Logísticos , Masculino , Análise Multivariada , Gradação de Tumores , Antígeno Prostático Específico/análise , Prostatectomia , Neoplasias da Próstata/classificação , Neoplasias da Próstata/cirurgia , Curva ROC , Estudos RetrospectivosRESUMO
BACKGROUND: Pituicytoma is a rare glial neoplasm from pituicytes of the neurohypophysis or infundibulum. It occurs in the sella and suprasellar area, and it is extremely uncommon to observe intraventricular pituicytoma without affecting the infundibulum or infundibular recess. OBSERVATIONS: A 69-year-old man had suffered progressive dementia for 6 months. Magnetic resonance imaging revealed a solid, homogeneously enhancing mass with flow voids within the anterior third ventricle. The sella, suprasellar area, infundibulum, and infundibular recess were unaffected. The patient underwent a transcallosal transchoroidal approach, which ended in partial removal of the tumor due to significant tumoral bleeding. A second surgery resulted in its subtotal removal. The tumor had bipolar cells, and their nuclei were immunoreactive for thyroid transcription factor-1. A DNA methylation analysis corresponded to the methylation class of pituicytoma, granular cell tumor, and spindle cell oncocytoma. Pituicytoma was the diagnosis based on these results. A systematic review identified 5 intraventricular pituicytoma cases. LESSONS: Intraventricular pituicytoma can grow without involvement of the infundibulum or infundibular recess. The current case suggests that pituicytes of the hypothalamic tuber cinereum can also give rise to pituicytoma. Because of the hypervascular nature of intraventricular pituicytomas, it is imperative to control intraoperative bleeding with attention to the adjacent hypothalamus. https://thejns.org/doi/10.3171/CASE24247.
Assuntos
Meato Acústico Externo/patologia , Hibridização in Situ Fluorescente , Leucemia Promielocítica Aguda/genética , Proteínas de Fusão Oncogênica/genética , Cariótipo Anormal , Antineoplásicos/uso terapêutico , Trióxido de Arsênio , Arsenicais/uso terapêutico , Terapia Combinada , Sondas de DNA , Transplante de Células-Tronco Hematopoéticas , Humanos , Leucemia Promielocítica Aguda/tratamento farmacológico , Leucemia Promielocítica Aguda/patologia , Leucemia Promielocítica Aguda/terapia , Infiltração Leucêmica/genética , Infiltração Leucêmica/patologia , Masculino , Pessoa de Meia-Idade , Óxidos/uso terapêutico , Tomografia por Emissão de Pósitrons , RNA Mensageiro/genética , RNA Neoplásico/genética , Recidiva , Tomografia Computadorizada por Raios X , Proteínas WT1/genéticaAssuntos
Cromossomos Humanos Par 1/ultraestrutura , Células Clonais/patologia , Macrófagos Alveolares/patologia , Síndromes Mielodisplásicas/complicações , Fator de Transcrição 1 de Leucemia de Células Pré-B/genética , Proteinose Alveolar Pulmonar/etiologia , Evolução Fatal , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Hibridização in Situ Fluorescente , Pessoa de Meia-Idade , Mucina-1/análise , Síndromes Mielodisplásicas/patologia , Proteinose Alveolar Pulmonar/patologia , Proteinose Alveolar Pulmonar/terapia , Neoplasias Gástricas/complicaçõesRESUMO
BACKGROUND/AIMS: Invasive intraductal papillary mucinous neoplasms (IPMNs) of the pancreas show poor prognosis similar to ductal adenocarcinomas. The aim of this study was to evaluate the molecular indicators of invasion and risk factors of recurrence of IPMNs. METHODOLOGY: For 46 curative resections of IPMNs, we analyzed the expression of apomucin antigens (MUC1, MUC2 and MUC5AC), p53 and Ki67 using resected specimens. RESULTS: All 46 IPMNs were classified into 4 groups; MUC1+/p53+, MUC1+/p53-, MUC2+ and MUC1-/MUC2-. The incidence of MUC1 expression increased according to the grade of dysplasia and all of 5 invasive carcinomas expressed MUC1. None of the invasive carcinoma, but almost half of IPMNs of non-invasive carcinoma and sever dysplasia expressed MUC2. Additionally, p53 expression was limited to invasive IPMNs and a non-invasive IPMN which recurred after the operation. The Ki67 labeling index was increased according to the grade of dysplasia and was highest in the MUC1+/p53+ group. In the MUC2+ cases, Ki67 labeling index was significantly higher than that in the MUC1-/MUC2- cases. MUC5AC was expressed in all IPMNs. CONCLUSIONS: The expression of MUC1, MUC2 and p53 might be indicators of malignancy and the expressions of MUC1 and p53 were the predictors of tumor invasion and recurrence.
Assuntos
Adenocarcinoma Mucinoso/metabolismo , Carcinoma Ductal Pancreático/metabolismo , Mucinas Gástricas/metabolismo , Neoplasias Pancreáticas/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Feminino , Humanos , Técnicas Imunoenzimáticas , Antígeno Ki-67/metabolismo , Masculino , Mucina-1/metabolismo , Mucina-2/metabolismo , Invasividade Neoplásica , Recidiva Local de Neoplasia , Valor Preditivo dos Testes , Fatores de RiscoRESUMO
Ependymomas are slowly growing glial tumors derived from the ependymal cells and usually occur in the central nervous system (CNS). Ependymomas rarely occur outside of the CNS and they are called extraspinal ependymomas. In spite of their metastatic potential, extraspinal ependymomas can be misdiagnosed for other benign mass like pilonidal cysts. The diagnosis is confirmed by histopathology and most of the cases are known to show glial fibrillary acidic protein (GFAP), S-100 protein, and keratin (AE1AE3) immunoreactivity. Herein, we present a case of GFAP-negative ependymoma, which presented as asymptomatic subcutaneous tumor of the left buttock and was clinically misdiagnosed as epidermal cyst. Our case indicates that ependymomas cannot be ruled out by lack of GFAP immunoreactivity and an asymptomatic subcutaneous mass could be a malignant tumor like ependymomas, which requires careful examinations.
RESUMO
A 62-year-old woman, who had a 16-year history of JAK2V617F-mutated myeloproliferative neoplasm (MPN), developed Burkitt leukemia (BL) 16 months after treatment with ruxolitinib to control hydroxyurea-refractory conditions. BL cells were CD10+, CD19+, CD20-, CD34-, cytoplasmic CD79a+, and TdT+, and lacked surface immunoglobulins but expressed the cytoplasmic µ heavy chain. In the bone marrow, nuclear MYC+ BL cells displaced the MPN tissues. t(8;14)(q24;q32) occurred at a CG dinucleotide within MYC exon 1 and at the IGHJ3 segment, and an N-like segment was inserted at the junction. The V-D-J sequence of the non-translocated IGH allele had the unmutated configuration. DNA from peripheral blood at a time of the course of MPN exhibited homozygous JAK2V617F mutation, while that at BL development included both JAK2V617F and wild-type DNAs. Although the association between JAK1/2 inhibitor therapy for MPN and secondary development of aggressive B-cell neoplasm remains controversial, this report suggests that, in selected patients, close monitoring of clonal B-cells in the BM is required before and during treatment with JAK1/2 inhibitors.
Assuntos
Linfoma de Burkitt/etiologia , Hidroxiureia/uso terapêutico , Transtornos Mieloproliferativos/tratamento farmacológico , Células Precursoras de Linfócitos B/patologia , Pirazóis/uso terapêutico , Linfoma de Burkitt/genética , Linfoma de Burkitt/patologia , Feminino , Humanos , Janus Quinase 2/genética , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/genética , Transtornos Mieloproliferativos/patologia , Nitrilas , Mutação Puntual , PirimidinasRESUMO
Haploidentical hematopoietic stem cell transplantation followed by post-transplant cyclophosphamide provides a well-tolerated and potentially curable treatment for chemorefractory acute-type adult T-cell leukemia/lymphoma.
RESUMO
BACKGROUND/AIMS: Intraductal papillary mucinous neoplasms have a better prognosis than ductal adenocarcinomas of the pancreas. The aim of this study was to evaluate the malignant potential of IPMNs by their preoperative images. METHODOLOGY: Forty-three intraductal papillary mucinous neoplasms were divided into 3 duct ectatic types using preoperative images (the main duct type, the branch duct type, and the mixed type), and into 2 groups using resected specimens (the malignant group including severe dysplasia based on the WHO classification and the benign group). The diameters of the tumor, main pancreatic duct and mural nodule were measured on the images. RESULTS: Two thirds of main duct type cases were in the malignant group. For the branch duct and mixed types, the diameters of the tumor and detectable mural nodules were larger in the malignant group than in the benign group. A tumor diameter larger than 3.5cm and a mural nodule diameter larger than 6mm were risk factors for malignancy (p < 0.05). CONCLUSIONS: The main duct type, a tumor larger than 3.5cm of the branch duct or mixed type, and a mural nodule larger than 6mm were all indicators of malignancy risk.
Assuntos
Adenocarcinoma Mucinoso/patologia , Carcinoma Papilar/patologia , Neoplasias Pancreáticas/patologia , Adenocarcinoma Mucinoso/cirurgia , Carcinoma Papilar/cirurgia , Humanos , Neoplasias Pancreáticas/cirurgia , Cuidados Pré-OperatóriosRESUMO
An 82-year-old woman presented with generalized lymphadenopathy and skin involvement. Lymph node biopsy revealed diffuse large B-cell lymphoma with a high proliferation index. G-banding and fluorescence in situ hybridization showed a hypertetraploid karyotype with two copies of t(8;22)(q24;q11), generating the fusion of MYC and the immunoglobulin λ chain gene (IGL), and two copies of the novel immunoglobulin heavy chain gene (IGH) translocation, t(14;15)(q32;q24). A long-distance inverse polymerase chain reaction (PCR) using nested primer combinations designed for each constant gene of IGH showed that Cγ4 was juxtaposed to the downstream sequence of the BCL2A1 (BCL2-related protein A1) gene through the Sγ4 switch region. As a result of t(14;15)(q32;q24), BCL2A1 and IGH Sγ4-Cγ4 were aligned in the same transcriptional orientation at a distance of 64 kb. Reverse transcriptase-mediated PCR showed high BCL2A1 mRNA levels in a lymphoma specimen. Since BCL2A1, mapped at 15q24.3 or 15q25.1, encodes a protein that is an anti-apoptotic member of the BCL2 protein family, we herein described the novel double-hit, t(8;22)(q24;q11)/MYC-IGL and t(14;15)(q32;q24)/IGH-BCL2A1, in which BCL2A1 is considered to play a role equivalent to that of BCL2 in the most frequent double-hit, MYC/BCL2.
Assuntos
Cadeias Pesadas de Imunoglobulinas/genética , Cadeias lambda de Imunoglobulina/genética , Linfoma Difuso de Grandes Células B/genética , Antígenos de Histocompatibilidade Menor/genética , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Proto-Oncogênicas c-myc/genética , Translocação Genética , Idoso de 80 Anos ou mais , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 15 , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 8 , Feminino , Humanos , Hibridização in Situ Fluorescente , CariótipoRESUMO
We describe 10 cases of diffuse large B-cell lymphoma (DLBCL) confined to the bone marrow (BM), spleen, and liver, as evidenced by the uniformly increased uptake of fluorodeoxyglucose (FDG) on positron emission tomography combined with computed tomography (PET/CT). Ages ranged from 56 to 87. All, but one patient presented with 'B' symptoms, a poor performance status, and hepatosplenomegaly. All patients showed cytopenia and elevated lactate dehydrogenase levels and were classified into the high-risk category of the International Prognostic Index scoring. BM infiltration was diffuse, interstitial/intrasinusoidal, or mixed, and all showed the nongerminal center B immunophenotype. Five patients had a rearrangement involving 3q27/BCL6, while six had increased copies of MYC, BCL2, or BCL6. All patients were initially treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone, leading to complete responses in six out of eight evaluable patients. We propose BM, spleen, and liver-type DLBCL, which is defined by the findings of FDG-PET/CT.
Assuntos
Medula Óssea/diagnóstico por imagem , Medula Óssea/patologia , Fígado/diagnóstico por imagem , Fígado/patologia , Linfoma Difuso de Grandes Células B/diagnóstico , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Baço/diagnóstico por imagem , Baço/patologia , Idoso , Idoso de 80 Anos ou mais , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores , Feminino , Fluordesoxiglucose F18 , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linfoma Difuso de Grandes Células B/mortalidade , Linfoma Difuso de Grandes Células B/terapia , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Estudos Retrospectivos , Resultado do Tratamento , Imagem Corporal TotalRESUMO
Cases of adenocarcinomas developed in Brunner gland hyperplasia (BGH) have been sporadically reported. Herein, we report the morphologic spectrum of hyperplastic changes culminating into dysplasia and carcinoma in 722 cases of BGH listed in our files. Fifteen of these cases showed dysplastic changes, with 8 graded as low-grade dysplasia, 5 as high-grade dysplasia, 11 as atypical hyperplasia, and 2 as invasive carcinoma, although each frequently coexisted in the same tumor. In two carcinomas, one had high-grade dysplasia in the mucosa, and another had only atypical hyperplasia. Interestingly, hyperplastic glands around dysplastic foci were associated with gastric foveolar metaplasia and papillary configuration in 13 cases, 11 of which showed a gradual increase in nuclear atypism in the transition from metaplastic to dysplastic glands. All of the metaplastic gastric glands showed diffuse and strong immunopositivity for gastric foveolar mucin (MUC5AC). Immunohistochemical profiles also supported the concept of a continuous spectrum in carcinogenesis from gastric foveolar hyperplasia through atypical hyperplasia or dysplasia and eventually to frank adenocarcinoma. The results of our study suggest, therefore, that dysplastic and/or carcinomatous change does occur in BGH, that they form the continuous morphologic spectrum, and that papillary foveolar metaplasia may be a precursor lesion in the process of carcinogenesis with a background of BGH.
Assuntos
Adenocarcinoma/patologia , Glândulas Duodenais/patologia , Lesões Pré-Cancerosas/patologia , Neoplasias Gástricas/patologia , Adenocarcinoma/metabolismo , Idoso , Idoso de 80 Anos ou mais , Transformação Celular Neoplásica , Progressão da Doença , Feminino , Humanos , Hiperplasia , Masculino , Metaplasia , Pessoa de Meia-Idade , Mucina-5AC , Mucinas/biossíntese , Lesões Pré-Cancerosas/metabolismo , Neoplasias Gástricas/metabolismoRESUMO
In anaplastic large cell lymphoma (ALCL), the anaplastic lymphoma kinase (ALK) gene is rearranged with diverse partners due to variant translocations/inversions. Case 1 was a 39-year-old man who developed multiple tumors in the mediastinum, psoas muscle, lung, and lymph nodes. A biopsy specimen of the inguinal node was effaced by large tumor cells expressing CD30, epithelial membrane antigen, and cytoplasmic ALK, which led to a diagnosis of ALK(+) ALCL. Case 2 was a 51-year-old man who was initially diagnosed with undifferentiated carcinoma. He developed multiple skin tumors eight years after his initial presentation, and was finally diagnosed with ALK(+) ALCL. He died of therapy-related acute myeloid leukemia. G-banding and fluorescence in situ hybridization using an ALK break-apart probe revealed the rearrangement of ALK and suggested variant translocation in both cases. We applied an inverse cDNA polymerase chain reaction (PCR) strategy to identify the partner of ALK. Nucleotide sequencing of the PCR products and a database search revealed that the sequences of ATIC in case 1 and TRAF1 in case 2 appeared to follow those of ALK. We subsequently confirmed ATIC-ALK and TRAF1-ALK fusions by reverse transcriptase PCR and nucleotide sequencing. We successfully determined the partner gene of ALK in two cases of ALK(+) ALCL. ATIC is the second most common partner of variant ALK rearrangements, while the TRAF1-ALK fusion gene was first reported in 2013, and this is the second reported case of ALK(+) ALCL carrying TRAF1-ALK.
Assuntos
Linfoma Anaplásico de Células Grandes/genética , Receptores Proteína Tirosina Quinases/genética , Translocação Genética , Adulto , Quinase do Linfoma Anaplásico , DNA Complementar/análise , DNA Complementar/genética , Humanos , Hibridização in Situ Fluorescente , Linfoma Anaplásico de Células Grandes/enzimologia , Linfoma Anaplásico de Células Grandes/patologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da PolimeraseAssuntos
Proteína 3 do Linfoma de Células B/genética , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/genética , Proteínas Proto-Oncogênicas c-myc/genética , Translocação Genética , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Proteína 3 do Linfoma de Células B/metabolismo , Biomarcadores , Biópsia , Cromossomos Humanos Par 14 , Cromossomos Humanos Par 19 , Cromossomos Humanos Par 8 , Expressão Gênica , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/metabolismo , Masculino , Tomografia por Emissão de Pósitrons , Proteínas Proto-Oncogênicas c-myc/metabolismo , Resultado do TratamentoRESUMO
A 75-year-old woman presented with marked leukocytosis; the white cell count was 143.6 × 10³/µL with 38.6 % monocytes and 13.6 % immature granulocytes, including blasts. Bone marrow (BM) aspirate smears showed >90 % cellularity with hyperplasia of myeloid-lineage cells, 14.6 % monocytes, and 32.1 % blasts. The granulocyte series showed a range of dysplastic morphologies. The rate of peroxidase positivity was 51.5 %. CD36+ cells with monocytic differentiation comprised 64.6 % mononuclear cells. Metaphase spreads obtained from the BM revealed an aneuploid karyotype with -7 and a submetacentric marker chromosome derived from chromosome 2, which was determined to be inv(2)(p23q13) by fluorescence in situ hybridization using the Vysis ALK probe. RAN-binding protein 2 (RANBP2)-ALK fusion mRNA was confirmed by reverse transcriptase-mediated polymerase chain reaction and nucleotide sequencing. High-sensitivity anti-ALK immunohistochemistry of a BM biopsy specimen demonstrated nuclear membrane staining of leukemia cells. As the leukemia showed features of chronic myelomonocytic leukemia, the patient was treated with standard daunorubicin-cytarabine followed by azacitidine, leading to the durable suppression of leukemia progression. These findings suggest that inv(2)(p23q13)/RABBP2-ALK defines a small subset of myeloid leukemia characterized by differentiation to monocytes and sharing features of myelodysplastic syndrome/myeloproliferative neoplasm.
Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 2 , Leucemia Mielomonocítica Crônica/genética , Chaperonas Moleculares/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Proteínas de Fusão Oncogênica/genética , Receptores Proteína Tirosina Quinases/genética , Idoso , Quinase do Linfoma Anaplásico , Antineoplásicos/administração & dosagem , Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Azacitidina/administração & dosagem , Azacitidina/uso terapêutico , Citarabina/administração & dosagem , Citarabina/uso terapêutico , Daunorrubicina/administração & dosagem , Daunorrubicina/uso terapêutico , Diagnóstico Diferencial , Feminino , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mielomonocítica Crônica/diagnóstico , Leucemia Mielomonocítica Crônica/tratamento farmacológico , Leucemia Mielomonocítica Crônica/metabolismo , Chaperonas Moleculares/metabolismo , Complexo de Proteínas Formadoras de Poros Nucleares/metabolismo , Proteínas de Fusão Oncogênica/metabolismo , Receptores Proteína Tirosina Quinases/metabolismo , Resultado do TratamentoAssuntos
Cromossomos Humanos Par 14 , Cromossomos Humanos X , Genes de Cadeia Pesada de Imunoglobulina , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/genética , Receptores de Lisofosfolipídeos/genética , Translocação Genética , Idoso , Anticorpos Monoclonais Murinos/efeitos adversos , Anticorpos Monoclonais Murinos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ciclofosfamida/efeitos adversos , Ciclofosfamida/uso terapêutico , Doxorrubicina/efeitos adversos , Doxorrubicina/uso terapêutico , Éxons , Feminino , Testes Genéticos , Humanos , Linfoma de Zona Marginal Tipo Células B/terapia , Masculino , Gradação de Tumores , Estadiamento de Neoplasias , Prednisona/efeitos adversos , Prednisona/uso terapêutico , Rituximab , Análise de Sequência de DNA , Resultado do Tratamento , Vincristina/efeitos adversos , Vincristina/uso terapêuticoRESUMO
An 81-year-old man with a history of diabetes mellitus and end-stage renal disease was admitted because of infective endocarditis. During transesophageal echocardiography (TEE), pericardial effusion rapidly increased and led to cardiac tamponade. Despite intensive therapy, the patient did not recover. Autopsy showed hemopericardium, ruptured sinus of Valsalva, and vegetation on the aortic valve. Our case suggests that cardiac tamponade due to the rupture of a sinus of Valsalva can occur in patients with aortic valve endocarditis complicated by perivalvular abscess. Therefore, we must be aware of this devastating complication and take preventive measures when performing TEE in such patients.