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BACKGROUND: Intracranial Hodgkin's lymphoma (HL) is an exceedingly rare condition that is at an increased risk of misdiagnosis and mismanagement, especially when initial radiographic evidence points to an alternative pathology. OBSERVATIONS: The authors describe the case of a 75-year-old female who presented with a posterior fossa lesion initially concerning for a vascular malformation on computed tomography imaging due to perilesional hypervascularity. Subsequent angiography revealed a developmental venous anomaly (DVA) but no arteriovenous shunting. The patient's clinical history combined with magnetic resonance imaging findings prompted a tissue biopsy, which demonstrated a rare case of central nervous system (CNS) HL. The neoangiogenesis of this CNS HL with an adjacent DVA contributed to the original radiographic misdiagnosis of an arteriovenous malformation. HL's angiogenic potential, coupled with the proangiogenic environment induced around DVAs, may have contributed to this rare CNS HL metastasis to the cerebellum. The potential misdiagnosis of posterior fossa CNS HL has also been seen in several prior cases reviewed herein. LESSONS: Hypervascular tumors, especially when associated with an adjacent DVA, should also be considered when first evaluating suspected intracranial vascular lesions. Although rare, CNS HL should be included in the differential diagnosis for patients with a prior history of HL. https://thejns.org/doi/10.3171/CASE24238.
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We report an extremely rare case of primary spinal extranodal NK/T-cell lymphoma (PSENKTL). A 54-year-old man presented with fever of unknown etiology for 2 months, with clinical evidence of hemophagocytic lymphohistiocytosis. Imaging studies revealed multiple spinal lesions without evidence of disease in other body sites. Fine-needle aspiration and core biopsy (FNACB) of a paraspinal mass showed a monotonous population of intermediate lymphocytes with abundant cytoplasm with fine granules, round to slightly irregular nuclei, and inconspicuous nucleoli. Core biopsy revealed diffuse infiltration by cells with a NK cell phenotype, positive Epstein-Barr virus-encoded small RNA, and negative T-cell receptor gene rearrangement. Bone marrow biopsy showed the presence of hemophagocytosis without evidence of lymphoma. The disease disseminated to the small bowel late in the clinical course and the patient died shortly after admission. This unusual case was diagnosed by FNACB and raised awareness of ENKTL as a differential diagnosis in spinal lesions.
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Infecções por Vírus Epstein-Barr , Linfoma Extranodal de Células T-NK , Humanos , Linfoma Extranodal de Células T-NK/diagnóstico , Linfoma Extranodal de Células T-NK/patologia , Biópsia por Agulha Fina , Herpesvirus Humano 4 , Biópsia , Biópsia com Agulha de Grande CalibreRESUMO
BACKGROUND: Although diffuse alveolar damage and respiratory failure are the key features of coronavirus disease 2019 (COVID-19), the involvement of other organs such as the kidney has also been reported. The reports of the incidence of acute kidney injury (AKI) in COVID-19 patients vary widely. In this study, we report our unique experience with AKI in COVID-19 patients in a low socioeconomic and predominantly ethnic minority group and provide its incidence, risk factors, and prognosis to expand the current understanding of this complication. METHODS: In this single-center, retrospective cohort study, we analyzed the data of 469 COVID-19 patients admitted to the Brookdale University Hospital in Brooklyn, NY, from March 18 through April 23, 2020. Information regarding demographics, comorbidities, medications, clinical and laboratory data, and outcomes was collected from the electronic medical records. Both univariate and multivariate analyses were performed to determine the association of AKI with in-hospital mortality. RESULTS: The median age was 66 years (interquartile range [IQR] 25-75; range 19-101 years), and 268 (57.14%) patients were male. Estimated glomerular filtration rate (eGFR) as determined by the Modification of Diet in Renal Disease Study Equation was low (<60 mL/min/1.73 m2) in 207 (44.1%) patients. During hospitalization, 128 (27.3%) patients developed AKI, and the incidence was significantly higher in those patients presenting with a low eGFR (N = 81, 39.1%; p < 0.001). Male sex, hypertension, the use of angiotensin-converting enzyme inhibitors and non-steroidal anti-inflammatories, hemodynamic instability, mechanical ventilation, acute respiratory distress syndrome, and admission elevated ferritin, creatinine kinase, brain natriuretic peptide, and troponin 1 were identified as the risk factors for in-hospital AKI. Ninety-seven (28.45%) patients died in the non-AKI group versus 91 (71.1%) in the AKI group (p < 0.001). The Cox proportional hazard model after adjusting for age, gender, comorbidities, hemodynamic status, and PF ratio (arterial oxygen partial pressure [PaO2]/fractional inspired oxygen [FiO2]) determined that on admission, an elevated blood urea nitrogen (hazard ratio [HR]: 1.75; 95% confidence interval [CI] 1.23-2.48), a low eGFR (HR 1.43; CI 1.1-2.03), AKI stage 1 (HR 1.14; CI 0.64-2.03), AKI stage 2 (HR 1.86; CI 1.03-3.56), and AKI stage 3 (HR 2.1; CI 1.3-2.81) were independent risk factors for in-hospital mortality. Renal replacement therapy (RRT) did not improve survival in stage III AKI. CONCLUSION: AKI in our hospitalized COVID-19 patients was common and carried a high mortality, especially in patients with AKI stage 3. RRT did not improve survival. Policy changes and planning for this high incidence of AKI in COVID-19 patients and its associated high mortality are necessary at the local and national levels.
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Injúria Renal Aguda/mortalidade , Betacoronavirus/patogenicidade , Infecções por Coronavirus/complicações , Hospitais Urbanos/organização & administração , Pneumonia Viral/complicações , Políticas , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/terapia , Injúria Renal Aguda/virologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Betacoronavirus/isolamento & purificação , COVID-19 , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/virologia , Etnicidade/estatística & dados numéricos , Feminino , Mortalidade Hospitalar , Hospitais Urbanos/estatística & dados numéricos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Grupos Minoritários/estatística & dados numéricos , Cidade de Nova Iorque/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Pneumonia Viral/virologia , Prognóstico , Terapia de Substituição Renal/estatística & dados numéricos , Estudos Retrospectivos , Fatores de Risco , SARS-CoV-2 , Fatores Socioeconômicos , Análise de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
False-negative (FN) intraoperative frozen section (FS) results of sentinel lymph nodes (SLN) have been reported to be more common after neoadjuvant chemotherapy (NAC) in the primary surgical setting. We evaluated SLN FS assessment in breast cancer patients treated with NAC to determine the FN rate and the histomorphologic factors associated with FN results. Patients who had FS SLN assessment following NAC from July 2008 to July 2017 were identified. Of the 711 SLN FS cases, 522 were negative, 181 positive, and 8 deferred. The FN rate was 5.4% (28/522). There were no false-positive results. Of the 8 deferred cases, 5 were positive on permanent section and 3 were negative. There was a higher frequency of micrometastasis and isolated tumor cells in FN cases (P<0.001). There was a significant increase in tissue surface area present on permanent section slides compared with FS slides (P<0.001), highlighting the inherent technical limitations of FS and histologic under-sampling of tissue which leads to most FN results. The majority (25/28, 89%) of FN cases had metastatic foci identified exclusively on permanent sections and were not due to a true diagnostic interpretation error. FN cases were more frequently estrogen receptor positive (P<0.001), progesterone receptor positive (P=0.001), human epidermal growth factor receptor-2 negative (P=0.009) and histologic grade 1 (P=0.015), which most likely reflects the lower rates of pathologic complete response in these tumors. Despite its limitations, FS is a reliable modality to assess the presence of SLN metastases in NAC treated patients.
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Neoplasias da Mama/terapia , Carcinoma/terapia , Secções Congeladas , Mastectomia , Terapia Neoadjuvante , Biópsia de Linfonodo Sentinela , Linfonodo Sentinela/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Carcinoma/secundário , Quimioterapia Adjuvante , Bases de Dados Factuais , Reações Falso-Negativas , Feminino , Humanos , Cuidados Intraoperatórios , Metástase Linfática , Pessoa de Meia-Idade , Micrometástase de Neoplasia , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Adulto JovemAssuntos
Evolução Clonal , Fatores de Ligação ao Core , Eosinófilos/patologia , Leucemia Mieloide Aguda/patologia , Progressão da Doença , Evolução Fatal , Humanos , Síndrome Hipereosinofílica/etiologia , Leucemia Mieloide Aguda/classificação , Leucemia Mieloide Aguda/genética , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Proteínas de Fusão Oncogênica , Indução de Remissão/métodosAssuntos
Carcinoma Neuroendócrino/diagnóstico por imagem , Linfoma de Células B/diagnóstico por imagem , Eritema Migratório Necrolítico/etiologia , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Compostos Organometálicos/administração & dosagem , Neoplasias Pancreáticas/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Compostos Radiofarmacêuticos/administração & dosagem , Idoso , Biópsia , Carcinoma Neuroendócrino/complicações , Carcinoma Neuroendócrino/patologia , Humanos , Imuno-Histoquímica , Linfoma de Células B/complicações , Linfoma de Células B/patologia , Imageamento por Ressonância Magnética , Masculino , Eritema Migratório Necrolítico/diagnóstico , Gradação de Tumores , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/patologia , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/patologia , Valor Preditivo dos TestesRESUMO
Primary (localized) non-Hodgkin lymphoma (NHL) of the ovary is extremely rare; only a few cases have been reported in the literature. We report two cases of primary ovarian lymphoma (POL), one involving bilateral ovaries in a 15-year-old girl and other involving one ovary in a 5-year-old girl. This report describes detailed clinical, histopathological, and imaging findings, along with the review of literature of primary diffuse large B-cell lymphoma (DLBCL) arising from an ovary. In addition, we describe findings of targeted capture panel sequencing on both tumors and identify the major genetic mutations that are recurrently mutated in pan-cancers. Compared to the genomic mutation features of major subtypes of DLBCL, we distinguish that each POL belongs to distinctive subtypes, GCB (germinal center B-cell subtype) DLBCL and ABC (activated B-cell subtype) DLBCL, respectively. The findings from the genomic analysis may help to understand the pathogenesis of POL and to guide potential targeted therapy in the future.
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Linfoma Difuso de Grandes Células B/genética , Neoplasias Ovarianas/genética , Adolescente , Linfócitos B/patologia , Pré-Escolar , Feminino , Genômica , Centro Germinativo/patologia , Humanos , Imunofenotipagem , Linfoma Difuso de Grandes Células B/patologia , Neoplasias Ovarianas/patologiaRESUMO
Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasm characterized by constitutive activation of extracellular signal-regulated kinase (ERK). Genomic characterization has identified activating point mutations including mutually exclusive BRAFV600E and activating MAP2K1 mutations to be responsible for ERK activation in a majority of pediatric LCH patients. Here, we report the discovery of a novel BRAF kinase fusion, PACSIN2-BRAF, in a child with multisystem LCH. This is the second reported case of an activating BRAF kinase fusion and indicates a recurrent pathologic mechanism. Genomic evaluation for activating kinase fusions should be strongly considered in pediatric LCH patients lacking more common mutations.
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Proteínas Adaptadoras de Transdução de Sinal/genética , MAP Quinases Reguladas por Sinal Extracelular , Histiocitose de Células de Langerhans/genética , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas B-raf/genética , Criança , Ativação Enzimática/genética , Humanos , MasculinoRESUMO
Cardiac papillary fibroelastomas (CPFs) are the second most common primary cardiac tumors and the most common cardiac valvular tumors. Although they are histologically benign and usually asymptomatic, CPFs can lead to serious and life-threatening complications like myocardial infarction, stroke, pulmonary embolus, cardiac arrest etc. CPFs represent a rare entity in clinical medicine and literature regarding their management is limited. We report two cases which illustrate such complications arising from undiagnosed CPFs on the aortic valve. We further stress on the importance of identifying CPFs early so that they can be managed appropriately based on recommendations from the available literature.
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BACKGROUND: Extramedullary hematopoeisis (EMH) can occur in various physiological and pathologic states. The spleen is the most common site of EMH. CASE PRESENTATION: We report a case with hereditary persistence of fetal hemoglobin with extramedullary hematopoiesis presented as cord compression and cytopenia secondary to multi-paraspinal masses. CONCLUSION: Treatment can be a challenge. Relapse is a possibility.
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The V617F mutation of Janus-associated kinase 2 (JAK2) is commonly seen in myeloproliferative neoplasms (MPN). Transformation of JAK2 positive MPNs to acute leukemia has been reported. We here report a case of acute promyelocytic leukemia which was later confirmed to have a co-existing JAK2 V617F positive MPN. In addition, the patient was found to have FLT3-TKD mutation, which, together with PML/RARa, could play a role in the MPN transformation to APL.
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Brenner tumors are uncommon ovarian neoplasms, which have morphologic and immunophenotypical features of transitional cell (urothelial) differentiation. The origin of Brenner tumors is perplexing, but they are believed to arise from transitional cell metaplasia occurring within the ovary and/or fallopian tube, although it is controversial whether this metaplasia is truly along transitional cell lines. Recently, TERT promoter mutations have been identified in urothelial carcinoma (UC) with high frequency (approximately 70%), and the current literature suggests a potential diagnostic and/or prognostic role of these mutations in UC. Molecular evidence supporting that Brenner tumors represent neoplasms exhibiting transitional cell differentiation is scant. To explore this further, we investigated a series of 19 Brenner tumors of the ovary (15 benign and 4 malignant) for the presence of TERT promoter mutations after genomic DNA extraction from formalin-fixed paraffin-embedded tissue blocks and standard polymerase chain reaction sequencing. TERT promoter mutations were not identified in any of the cases (0/19). The absence of TERT promoter mutations in Brenner tumors suggests that despite the morphologic and some immunophenotypical resemblance to non-neoplastic and neoplastic transitional epithelium, Brenner tumors may exhibit a molecularly distinct pathogenesis. The findings also may portend diagnostic utility in rare cases wherein it is difficult to distinguish a primary malignant Brenner tumor of the ovary from metastatic UC.
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Tumor de Brenner/genética , Mutação , Neoplasias Ovarianas/genética , Telomerase/genética , Neoplasias Urológicas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células de Transição/genética , Feminino , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Regiões Promotoras Genéticas/genéticaRESUMO
The dura is a rare site of involvement by marginal zone lymphoma (MZL) and the biology of dural MZL is not well understood. We performed genome-wide DNA copy number and targeted mutational analysis of 14 dural MZL to determine the genetic landscape of this entity. Monoallelic and biallelic inactivation of TNFAIP3 by mutation (n=5) or loss (n=1) was observed in 6/9 (67%) dural MZL exhibiting plasmacytic differentiation, including 3 IgG4+ cases. In contrast, activating NOTCH2 mutations were detected in 4/5 (80%) dural MZL displaying variable monocytoid morphology. Inactivating TBL1XR1 mutations were identified in all NOTCH2 mutated cases. Recurrent mutations in KLHL6 (n=2) and MLL2 (n=2) were also detected. Gains at 6p25.3 (n=2) and losses at 1p36.32 (n=3) were common chromosomal imbalances, with loss of heterozygosity (LOH) of these loci observed in a subset of cases. Translocations involving the IGH or MALT1 genes were not identified. Our results indicate genetic similarities between dural MZL and other MZL subtypes. However, recurrent and mutually exclusive genetic alterations of TNFAIP3 and NOTCH2 appear to be associated with distinct disease phenotypes in dural MZL.
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Dura-Máter/metabolismo , Variação Genética , Linfoma de Zona Marginal Tipo Células B/genética , Neoplasias Meníngeas/genética , Adulto , Aberrações Cromossômicas , Análise Mutacional de DNA , Dura-Máter/patologia , Feminino , Predisposição Genética para Doença/genética , Humanos , Hibridização in Situ Fluorescente , Linfoma de Zona Marginal Tipo Células B/patologia , Linfoma de Zona Marginal Tipo Células B/terapia , Masculino , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/terapia , Pessoa de Meia-Idade , MutaçãoRESUMO
Histone deacetylase inhibitors (HDACi) have been proposed as therapies for certain cancers and as an anti-reservoir therapy for HIV+ individuals with highly active anti-retroviral therapy, yet their roles in glial inflammatory and innate antiviral gene expression have not been defined. In this study, we examined the effects of two non-selective HDACi, trichostatin A and valproic acid, on antiviral and cytokine gene expression in primary human microglia and astrocytes stimulated with TLR3 or TLR4 ligand. HDACi potently suppressed the expression of innate antiviral molecules such as IFNß, interferon-simulated genes, and proteins involved in TLR3/TLR4 signaling. HDACi also suppressed microglial and astrocytic cytokine and chemokine gene expression, but with different effects on different groups of cytokines. These results have important implications for the clinical use of HDACi.