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1.
Chest ; 2024 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-38447639

RESUMEN

BACKGROUND: Albumin is used commonly across a wide range of clinical settings to improve hemodynamics, to facilitate fluid removal, and to manage complications of cirrhosis. The International Collaboration for Transfusion Medicine Guidelines developed guidelines for the use of albumin in patients requiring critical care, undergoing cardiovascular surgery, undergoing kidney replacement therapy, or experiencing complications of cirrhosis. STUDY DESIGN AND METHODS: Cochairs oversaw the guideline development process and the panel included researchers, clinicians, methodologists, and a patient representative. The evidence informing this guideline arises from a systematic review of randomized clinical trials and systematic reviews, in which multiple databases were searched (inception through November 23, 2022). The panel reviewed the data and formulated the guideline recommendations using Grading of Recommendations Assessment, Development, and Evaluation methodology. The guidelines were revised after public consultation. RESULTS: The panel made 14 recommendations on albumin use in adult critical care (three recommendations), pediatric critical care (one recommendation), neonatal critical care (two recommendations), cardiovascular surgery (two recommendations), kidney replacement therapy (one recommendation), and complications of cirrhosis (five recommendations). Of the 14 recommendations, two recommendations had moderate certainty of evidence, five recommendations had low certainty of evidence, and seven recommendations had very low certainty of evidence. Two of the 14 recommendations suggested conditional use of albumin for patients with cirrhosis undergoing large-volume paracentesis or with spontaneous bacterial peritonitis. Twelve of 14 recommendations did not suggest albumin use in a wide variety of clinical situations where albumin commonly is transfused. INTERPRETATION: Currently, few evidence-based indications support the routine use of albumin in clinical practice to improve patient outcomes. These guidelines provide clinicians with actionable recommendations on the use of albumin.

2.
J Clin Pathol ; 75(5): 292-301, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-33542108

RESUMEN

AIMS: Myeloid neoplasms occur in the setting of chronic lymphocytic leukaemia (CLL)/CLL-like disease. The underlying pathogenesis has not been elucidated. METHODS: Retrospectively analysed 66 cases of myeloid neoplasms in patients with CLL/CLL-like disease. RESULTS: Of these, 33 patients (group 1) had received treatment for CLL/CLL-like disease, while the other 33 patients (group 2) had either concurrent diagnoses or untreated CLL/CLL-like disease before identifying myeloid neoplasms. The two categories had distinct features in clinical presentation, spectrum of myeloid neoplasm, morphology, cytogenetic profile and clinical outcome. Compared with group 2, group 1 demonstrated a younger age at the diagnosis of myeloid neoplasm (median, 65 vs 71 years), a higher fraction of myelodysplastic syndrome (64% vs 36%; OR: 3.1; p<0.05), a higher rate of adverse unbalanced cytogenetic abnormalities, including complex changes, -5/5q- and/or -7/7q- (83% vs 28%; OR: 13.1; p<0.001) and a shorter overall survival (median, 12 vs 44 months; p<0.05). CONCLUSIONS: Myeloid neoplasm in the setting of CLL/CLL-like disease can be divided into two categories, one with prior treatment for CLL/CLL-like disease and the other without. CLL-type treatment may accelerate myeloid leukaemogenesis. The risk is estimated to be 13-fold higher in patients with treatment than those without. The causative agent could be attributed to fludarabine in combination with alkylators, based on the latency of myeloid leukaemogenesis and the cytogenetic profile.


Asunto(s)
Leucemia Linfocítica Crónica de Células B , Leucemia Mieloide , Síndromes Mielodisplásicos , Trastornos Mieloproliferativos , Humanos , Leucemia Linfocítica Crónica de Células B/tratamiento farmacológico , Leucemia Linfocítica Crónica de Células B/genética , Síndromes Mielodisplásicos/patología , Estudios Retrospectivos
3.
Transl Lung Cancer Res ; 10(6): 2500-2508, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34295657

RESUMEN

BACKGROUND: Malignant pleural effusion (MPE) portends a poor prognosis in non-small cell lung cancer (NSCLC). However, the yield of pleural fluid cytology as well as survival of patients with MPE associated with squamous cell carcinoma versus adenocarcinoma is not well understood. We conducted this study to assess the diagnostic yield of pleural cytology and survival of patients with NSCLC related MPE. METHODS: We performed a single-center, retrospective analysis of patients with NSCLC related MPE between 2010 and 2017. Kaplan-Meier method was used to compare survival and Cox proportional hazards analysis to assess if squamous cell cytopathology was associated with mortality. RESULTS: We identified 277 patients, 29 with squamous cell and 248 with adenocarcinoma MPE. Pleural fluid cytology from initial thoracentesis was diagnostic in 13.8% (4/29) patients with squamous cell and 80.2% (199/248) with adenocarcinoma (P<0.001). Cytology from second thoracentesis was diagnostic in 13.3% (2/15) patients with squamous cell carcinoma, compared to 37.5% (12/32) with adenocarcinoma (P=0.17). There was no statistically significant difference in the pleural biopsy yield from medical pleuroscopy or video-assisted thoracoscopic surgery (VATS) in the two groups. The median survival of patients with squamous cell MPE was 112 [interquartile range (IQR): 44-220] days versus 194 (IQR: 54-523) days in adenocarcinoma (Log-rank test P=0.04). Multivariate Cox proportional hazards analysis showed that squamous cell cytopathology was independent predictor of mortality (hazard ratio for death of 1.73, 95% CI: 1.1-2.6; P=0.01). CONCLUSIONS: Pleural fluid cytology has a low diagnostic yield in squamous cell carcinoma MPE, and these patients have a poor survival compared to lung adenocarcinoma.

4.
Hum Pathol ; 116: 63-72, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34310982

RESUMEN

Primary hepatic neoplasms with neuroendocrine differentiation are extremely rare. Their clinicopathological features and molecular genetic basis are largely unknown. We identified four cases of primary hepatic neoplasms with neuroendocrine differentiation. Electronic medical records were reviewed for clinical history, imaging findings, laboratory results, and follow-up. Pathology slides, immunohistochemistry, and ancillary studies were reviewed. There were two females and two males with age ranging from 52 to 74 years. There was one amphicrine carcinoma with tumor cells simultaneously demonstrating both hepatocellular and neuroendocrine differentiation, one mixed hepatocellular-neuroendocrine carcinoma (NEC) with hepatocellular component intermingled with neuroendocrine component, one small cell NEC, and one well-differentiated neuroendocrine tumor. Next- generation sequencing of the mixed hepatocellular-NEC and small cell NEC showed molecular/genetic alterations commonly seen in hepatocellular carcinoma (HCC). All four cases arose in a background of cirrhosis. Primary hepatic neoplasms arising in cirrhotic livers can have a spectrum of neuroendocrine differentiation. Presence of a NEC component may be an indicator of aggressiveness. In addition, primary hepatic carcinomas with neuroendocrine differentiation likely share the same molecular pathways as HCC.


Asunto(s)
Carcinoma Hepatocelular/patología , Carcinoma Neuroendocrino/patología , Neoplasias Hepáticas/patología , Tumor Mixto Maligno/patología , Anciano , Carcinoma Hepatocelular/etiología , Carcinoma Neuroendocrino/etiología , Femenino , Humanos , Cirrosis Hepática/complicaciones , Neoplasias Hepáticas/etiología , Masculino , Persona de Mediana Edad , Tumor Mixto Maligno/etiología
5.
Int J Lab Hematol ; 43(5): 1117-1122, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33847065

RESUMEN

INTRODUCTION: Infantile leukemia encompasses a heterogeneous group which needs stratifying for treatment selection. METHODS: We collected 78 cases of infantile leukemia and retrospectively analyzed their clinicopathological data. RESULTS: Infantile leukemia featured a ratio of acute myeloid leukemia (AML) to B-lymphoblastic leukemia (B-ALL) of 1:2, with a better survival for AML than B-ALL (median survival 36 vs 24 months). When stratified by age, "early" infantile B-ALL (2-6 months) showed a high rate of KMT2A rearrangement (100%), similar to the rate seen in congenital B-ALL (1 month) (100%) and higher than seen in "late" infantile B-ALL (≥7 months) (68%). The three categories of infantile B-ALL exhibited an age-dependent increase in survival (median survival 8.5, 24, and >24 months, respectively). The age-dependent survival benefit remained after excluding the cases negative for KMT2A rearrangement. Conversely, infantile AML lacked an age-dependent pattern of survival. CONCLUSION: The clinical outcome of infantile leukemia depends on the type of leukemia. Given the age-dependent survival, infantile B-ALL can be divided into three subcategories.


Asunto(s)
Leucemia Mieloide Aguda/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patología , Femenino , Reordenamiento Génico , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Lactante , Estimación de Kaplan-Meier , Leucemia Mieloide Aguda/genética , Masculino , Proteína de la Leucemia Mieloide-Linfoide/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Estudios Retrospectivos
6.
Transfusion ; 61(4): 1336-1340, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33666248

RESUMEN

BACKGROUND: Transfusion-related acute lung injury (TRALI) is a transfusion complication often mediated by recipient exposure to plasma from donors with human leukocyte antigen (HLA) and human neutrophil antigen (HNA) antibodies. Recipient anti-donor HLA or HNA antibodies have rarely been implicated. STUDY DESIGN AND METHODS: Herein, we describe a case of fatal TRALI mediated by recipient anti-HLA and anti-HNA antibodies. Cognate antibody-antigen match was confirmed with serologic and molecular assays. RESULTS: A 69-year-old G5P5 female with no prior transfusion history and metastatic cholangiocarcinoma with thromboembolic complications presented with heart failure and dyspnea. She was transfused 15 ml of a unit of Fya -negative red blood cells and subsequently developed acute onset dyspnea, hypoxemia, hypotension, and fever. Clinical investigations revealed bilateral infiltrates on chest X-ray and cognate recipient HLA and HNA antibodies to donor antigens. The patient died of acute respiratory failure within 24 h of transfusion. In total, the patient had Fya , HLA Class I, HNA, and human platelet antigen (HPA) alloantibodies. The 63-year-old female donor had detectable HLA class II antibodies (recipient class II genotype unavailable). CONCLUSION: The pathophysiology of TRALI has traditionally been ascribed to underlying conditions that put the recipient at risk in combination with donor biological response modifiers. This case illustrates alternative pathogenic mediators including alloantibodies to donor HLA and HNA. Additional studies to determine the contribution and frequency of recipient alloantibodies in TRALI may inform future mitigation strategies to further reduce the incidence of TRALI, particularly in female transfusion recipients.


Asunto(s)
Colangiocarcinoma/secundario , Antígenos HLA/inmunología , Neutrófilos/inmunología , Lesión Pulmonar Aguda Postransfusional/diagnóstico , Anciano , Donantes de Sangre , Colangiocarcinoma/complicaciones , Disnea/etiología , Resultado Fatal , Femenino , Fiebre/etiología , Humanos , Hipotensión/etiología , Hipoxia/etiología , Isoanticuerpos/sangre , Persona de Mediana Edad , Plasma/inmunología , Síndrome de Dificultad Respiratoria/diagnóstico , Síndrome de Dificultad Respiratoria/etiología , Tromboembolia/etiología , Reacción a la Transfusión/complicaciones , Lesión Pulmonar Aguda Postransfusional/complicaciones , Lesión Pulmonar Aguda Postransfusional/inmunología , Lesión Pulmonar Aguda Postransfusional/fisiopatología , Receptores de Trasplantes
7.
Am J Clin Pathol ; 155(6): 887-894, 2021 05 18.
Artículo en Inglés | MEDLINE | ID: mdl-33367493

RESUMEN

OBJECTIVES: The aim of this multisite quality improvement study was to evaluate patients' experiences with the patient-centered pathology (PCP) consultation program and to determine whether PCP enhanced their care experience. METHODS: Patients were invited to attend PCP consultations to review their pathology report and slides and have their questions answered by the pathologist privately, with the option to attend the appointment with family members or friends for support. A patient experience questionnaire (PEQ) was administered to patients, who participated voluntarily in the PCP, and survey data were collected and stored in REDCap. Statistical analysis was performed using SAS 9.4 (SAS Institute). RESULTS: Sixty-seven patients (95.5% female) aged 18 to 84 years across 4 institutions completed the PEQ. Overall, 58% and 15.8% of patients had breast and brain tumors, respectively, and 59.7% of tumors were newly diagnosed. Most patients thought it was important for them to learn as much as they could about their health condition. However, the majority of patients reported some degree of difficulty learning about their health condition based on written information, despite 97% having completed high school and/or further education. The majority of patients rated their pathologist as "excellent" across communication metrics. Ultimately, 100% of respondents were satisfied, found their visits to be useful, and would recommend the PCP to other patients. CONCLUSIONS: Patients found that personalized clinical encounters with pathologists improved their understanding of their health condition and their satisfaction with their care experience. Patients thought pathologists communicated respectfully, effectively, and empathetically.


Asunto(s)
Neoplasias/terapia , Satisfacción del Paciente , Mejoramiento de la Calidad , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Comunicación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Patólogos , Derivación y Consulta , Encuestas y Cuestionarios , Adulto Joven
8.
J Bronchology Interv Pulmonol ; 28(3): 209-214, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-33273249

RESUMEN

BACKGROUND: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has become the standard for diagnosis and staging of lung cancer. Historically, 21- and 22-G needles have been paired with EBUS. We evaluated the performance of EBUS-TBNA using a larger 19-G needle in the assessment of tumor tissue obtained and success of testing for molecular markers. METHODS: We prospectively enrolled adult patients with lymphadenopathy concerning for metastatic lung cancer. Patients underwent diagnostic EBUS-TBNA utilizing 19-G needles. Cases of non-small cell lung cancer (NSCLC) were evaluated for programmed cell death receptor ligand (PD-L1) expression. Cases of adenocarcinoma or undifferentiated NSCLC were further evaluated for 3 molecular markers for driver mutations: epidermal growth factor receptor (EGFR), c-ros oncogene 1 (ROS-1), and anaplastic lymphoma kinase (ALK). RESULTS: Fifty patients were enrolled and underwent EBUS-TBNA using 19-G needles. PD-L1 assay was successfully performed in 90% of NSCLC cases. In adenocarcinoma or undifferentiated NSCLC cases, the success rate in testing was 90% for EGFR and 86% for ALK. ROS-1 testing had a success rate of 67%; 24% of these specimens had adequate tumor cells but there was technical difficulty with the assay. Block quality was judged by total number of tumor cells per hematoxylin and eosin-stained slide of each cell block (58% of specimens had >500 cells and 22% had 200 to 500 cells). There were no adverse events. CONCLUSION: EBUS-TBNA using 19-G needles can obtain a high number of tumor cells and has a high rate of success in performing assays for PD-L1, EGFR, and ALK in NSCLC patients without an increase in adverse events. The success rate of ROS-1 testing was lower.


Asunto(s)
Neoplasias Pulmonares , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico por imagen , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Agujas , Proyectos Piloto , Succión
9.
J Am Soc Cytopathol ; 9(6): 485-493, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32336671

RESUMEN

INTRODUCTION: Immune checkpoint pathway markers induce immune tolerance to non-small cell lung cancer (NSCLC). Therapeutic antibodies targeting the programmed cell death 1 (PD-1)/programmed cell death ligand 1 (PD-L1) pathway have demonstrated efficacy in tumors expressing relatively high PD-L1 levels. Minimally invasive endobronchial ultrasound-guided fine needle aspiration allows patients with inoperable tumors or comorbidities to attain a confirmatory diagnosis. The aims of the present study were to determine whether PD-L1 testing is equivalent to cytology and biopsy or resection specimens at different tumor proportion score cutoffs and for different NSCLC subtypes. MATERIALS AND METHODS: Data were retrospectively collected for patients with paired NSCLC cytology and surgical resection specimens from May 4, 2007 to May 4, 2017. The Food and Drug Administration-approved Dako PD-L1 immunohistochemistry 22C3 pharmDx kit was used to measure PD-L1 on paired cytology cell block and biopsy or resection specimens, and the PD-L1 tumor proportion scores were recorded. Statistical analysis of categorical and continuous variables was performed using SAS, version 9.4. RESULTS: A total of 53 paired cytology and resection samples (27 adenocarcinoma, 25 squamous cell carcinoma, and 1 unclassified) were analyzed. Supposing the resection specimen to reflect the true PD-L1 expression, the sensitivity, specificity, positive predictive value, negative predictive value, and overall agreement for the cytology method was 73.3%, 65.2%, 73.3%, 65.2%, and 69.8%, respectively. For high PD-L1 expression (≥50%), the cytology method demonstrated an overall agreement of 79.2%. The overall agreement between methods was 81.5% and 76% for cases of adenocarcinoma and squamous cell carcinoma, respectively. CONCLUSIONS: NSCLC cytology samples from endobronchial ultrasound-guided fine needle aspiration are suitable for PD-L1 testing, especially using a high PD-L1 expression cutoff of ≥50% and for adenocarcinoma.


Asunto(s)
Adenocarcinoma/metabolismo , Antígeno B7-H1/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico por imagen , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Carcinoma de Células Escamosas/metabolismo , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico/métodos , Inmunohistoquímica/métodos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/metabolismo , Adenocarcinoma/diagnóstico , Adenocarcinoma/patología , Biomarcadores de Tumor/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patología , Humanos , Neoplasias Pulmonares/patología , Estudios Retrospectivos , Sensibilidad y Especificidad
10.
Cancer Cytopathol ; 128(8): 563-569, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32339438

RESUMEN

BACKGROUND: The ThyroSeq panel tests for genetic alterations to risk-stratify cytologically indeterminate nodules. The authors assessed the test performance of the tests, including the latest version (v3), at an academic center. METHODS: Results from ThyroSeq testing (v2 and v3) were reviewed over 2 years, and patient demographics, cytology diagnoses, results of ThyroSeq testing, and histopathologic diagnoses on resection (if available) were collected. RESULTS: One hundred eighty-five nodules were tested from 178 patients, including 94 nodules tested with v2 and 91 nodules tested with v3. Overall, 28 of 185 nodules (15%) yielded a high-risk or intermediate-high-risk mutation (HRM). Of the patients with these nodules, 19 of 25 (76%) had neoplastic nodules, and 11 of 25 (44%) had a malignancy or a noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). Only 16 of 147 nodules (11%) that were negative or had low-risk genetic alterations underwent resection, with 1 false-negative result (a papillary thyroid carcinoma tested with v2). No false-negative results were identified with v3. Two nodules had TP53 mutations identified, both of which were benign on resection. Nodules with HRM that were tested with v2 and v3 had a positive predictive value (PPV) for malignancy of 57% and 39%, respectively, and a PPV for neoplasm of 86% and 72%, respectively. The negative predictive values for v2 and v3 were 92% and 100%, respectively. CONCLUSIONS: The PPV of an HRM result on ThyroSeq v3 was low for malignancy or NIFTP, and the PPV for neoplasm was higher. RAS-type mutations were the most commonly identified in both benign and malignant nodules. Thyroseq v3 had a lower PPV for both malignancy/NIFTP and neoplasm than v2 but did not produce any false-negative results.


Asunto(s)
Centros Médicos Académicos/organización & administración , Predisposición Genética a la Enfermedad , Genoma Humano , Mutación , Neoplasias de la Tiroides/genética , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad , Neoplasias de la Tiroides/patología
11.
Diagn Cytopathol ; 47(11): 1177-1183, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31348619

RESUMEN

BACKGROUND: Molecular tests such as the Afirma gene expression classifier (GEC) and mutational panels (such as ThyroSeq) have been introduced to help risk stratify cytologically indeterminate thyroid nodules with the aim to reduce the number of unnecessary thyroidectomies. Some reports have suggested that samples with Hurthle cell predominance have higher false-positive rates on GEC testing, but data are limited. METHODS: We reviewed thyroid nodules with indeterminate (Bethesda III/IV) cytology at our institution. Patient demographics, cytologic and histologic diagnoses (where available), and molecular test results were collected. RESULTS: GEC was performed on 202 nodules, and ThyroSeq was performed on 81 nodules. In the GEC cohort, 66% of nodules with Hurthle cell predominance yielded "suspicious" result vs 46% of nodules without Hurthle cell predominance, with risk of malignancy (ROM) for surgically resected nodules of 16% and 33%, respectively. In ThyroSeq cohort, 8% of nodules with Hurthle cell predominance yielded a high-risk mutation vs 19% of nodules without Hurthle cell predominance, with ROM of 50% and 33%, respectively. CONCLUSIONS: For ThyroSeq molecular panel, while it did not appear that there was an increase in rate of high-risk mutations detected in the samples with Hurthle cell predominance, small numbers limit the generalizability of these results. For the GEC cohort, indeterminate thyroid nodules with predominance of Hurthle cells showed an increased rate of "suspicious" results compared to samples without Hurthle cell predominance. The ROM for GEC "suspicious" nodules with Hurthle cell predominance on surgical resection was lower in our study. Repeat FNA may be of use in patients with these types of nodules. In the context of a Hurthle cell predominant lesion, positive results on molecular testing may not carry a high rate of malignancy.


Asunto(s)
Perfilación de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Mutación , Proteínas de Neoplasias , Células Oxífilas , Nódulo Tiroideo , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas de Neoplasias/biosíntesis , Proteínas de Neoplasias/genética , Células Oxífilas/metabolismo , Células Oxífilas/patología , Estudios Retrospectivos , Nódulo Tiroideo/genética , Nódulo Tiroideo/metabolismo , Nódulo Tiroideo/patología
12.
Endocr Pathol ; 30(2): 134-137, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30825100

RESUMEN

Molecular tests and mutational panels such as Afirma Gene Expression Classifier (GEC) and ThyroSeq, respectively, have been used to help risk stratify cytologically indeterminate thyroid nodules with the aim to reduce unnecessary surgeries. We studied the effect of molecular testing on the rate of surgical resection in these nodules. Thyroid nodules with indeterminate (Bethesda III/IV) cytology that underwent molecular testing (GEC or ThyroSeq) at our institution between June 2012 and August 2016 were retrospectively reviewed. We collected demographics, cytology diagnoses, molecular test results, and whether surgical resection was performed. Two hundred eighty-three nodules met inclusion criteria: 202 nodules tested with GEC and 81 tested with ThyroSeq. In the cohort of GEC-tested nodules, 99/202 (49%) yielded "suspicious" and 103/202 (51%) yielded "benign" results, with an overall resection rate of 70/99 (71%) in "suspicious" versus 13/103 (13%) in "benign" nodules. In the cohort of ThyroSeq-tested nodules, 13/81 (16%) of nodules yielded a "high-risk mutation" and 68/81 (84%) of nodules yielded "no high-risk mutation," with overall resection rates of 11/13 (85%) and 30/68 (44%), respectively. Rates of resection were higher for Bethesda IV than for III nodules, regardless of molecular results. For both GEC and ThyroSeq, molecular test results seemed to correlate with the rate of resection at our institution. Rates of resection for cytologically indeterminate nodules that were "benign" or "no high-risk mutation" appeared to differ from those that were "suspicious" or "high-risk mutation" on molecular panel testing by GEC and ThyroSeq, respectively. Our findings support that molecular test results are impacting management.


Asunto(s)
Glándula Tiroides/patología , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugía , Biopsia con Aguja Fina , Estudios de Cohortes , Humanos , Mutación/genética , Resultados Negativos , Patología Molecular/métodos , Estudios Retrospectivos , Medición de Riesgo , Resultado del Tratamiento
13.
Leuk Lymphoma ; 60(4): 1006-1013, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30188223

RESUMEN

Acute lymphoblastic leukemia (ALL) in infants <1-year-old is biologically different from ALL in older children. Although KMT2A rearrangement is the predominant genetic signature in infantile B-ALL, disease course is heterogenous, behaving more aggressively in younger infants. We investigated clinicopathological differences throughout the first year to understand the transition to pediatric B-ALL. In a multi-institutional review involving four medical institutions, 54 cases of infantile B-ALL were identified. Patients were divided into congenital and non-congenital groups with multiple age subgroups. Male predominance was seen in congenital cases compared to female in non-congenital cases. There were decreasing trends of hyperleukocytosis, central nervous system involvement, KMT2A rearrangements, lineage switch, and mortality, versus increasing trends of CD10 expression and non-KMT2A abnormalities. Statistically significant differences emerged at 3 and 9 months, the latter was not previously described. Poor-prognostic risk factors decreased with age, the last trimester of infantile B-ALL essentially merging with pediatric B-ALL.


Asunto(s)
Biomarcadores de Tumor , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biopsia , Transformación Celular Neoplásica/genética , Aberraciones Cromosómicas , Femenino , Citometría de Flujo , Histocitoquímica , Humanos , Lactante , Cariotipificación , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Pronóstico , Resultado del Tratamiento
15.
Medicine (Baltimore) ; 97(38): e12482, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30235749

RESUMEN

RATIONALE: Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin lymphoma with a dismal outcome. Most patients relapse in intracranial sites and <5% of patients relapse in extracranial sites. Here, we present the first case of PCNSL with an adrenal relapse. PATIENT CONCERNS: A 72-year-old woman, first presented 7 years ago with complaints of headache and dizziness. DIAGNOSES: Enhanced magnetic resonance imaging revealed the mass within the splenium of the corpus callosum. On histological examination, there was a diffuse growth pattern of neoplastic cells in the brain biopsy. Immunohistochemistry and flow cytometric analysis demonstrated that the neoplastic cells were of B-cell lineage. INTERVENTIONS: The patient underwent methotrexate-based chemotherapy and whole-brain radiotherapy after the initial diagnosis of primary central nervous system-large B-cell lymphoma (CNS-DLBCL). OUTCOMES: After 4 years of clinical remission, the patient was diagnosed with endometrial cancer. Interestingly, a radiological study following the treatment of endometrial cancer demonstrated a right adrenal mass, which was suspicious for malignancy. Morphologic examination and immunohistochemistry studies confirmed the diagnosis of diffuse large B-cell lymphoma. A fluorescent in situ hybridization panel for lymphoma showed rearrangement of Immunoglobulin heavy chain (IGH) and B-cell lymphoma 6 (BCL6), respectively, suggesting fusion of BCL6/IGH. Immunoglobulin kappa analysis demonstrated a common origin for the brain and adrenal lesions, which led to the final diagnosis of an adrenal relapse of CNS-DLBCL. LESSONS: PCNSL is a highly infiltrative neoplasm, particularly at relapse. To the best of our knowledge, this is the first case of CNS-DLBCL with adrenal relapse. Considering the poor outcome of CNS-DLBCL, molecular genetic studies should be done to identify a common origin for the primary and secondary lesion.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/secundario , Neoplasias del Sistema Nervioso Central/patología , Linfoma de Células B Grandes Difuso/patología , Recurrencia Local de Neoplasia/patología , Anciano , Femenino , Humanos
16.
Cancer Cytopathol ; 126(7): 471-480, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29637728

RESUMEN

BACKGROUND: The ThyroSeq mutational panel and Afirma gene expression classifier (GEC) are used to risk stratify cytologically indeterminate thyroid nodules. In the current study, the authors evaluated the performance of these tests within the context of ultrasonographic features and with the incorporation of the noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) nomenclature. METHODS: The authors reviewed nodules using ThyroSeq or Afirma GEC testing. For nodules that were surgically resected, both tests were studied within the context of ultrasound findings, comparing performance stratified by the 2015 American Thyroid Association guideline (ATA 2015) sonographic patterns and assessing the positive predictive value (PPV) of these tests both including and excluding NIFTP in the malignant category. RESULTS: A total of 304 cases were identified, 119 of which were resected. All cases that met the criteria for NIFTP on excision demonstrated either high-risk mutations on ThyroSeq or a "suspicious" result on Afirma GEC. When NIFTP cases were shifted from the malignant to nonmalignant category, the PPV of "positive" tests for both ThyroSeq and Afirma GEC decreased from 42.9% to 14.3% (an absolute decrease of 28.6%) and 30.1% to 25.3% (an absolute decrease of 4.8%), respectively. No cases of malignancy were found in the ATA 2015 "very low suspicion" group, even with a "suspicious" Afirma GEC result. CONCLUSIONS: Both the ThyroSeq and Afirma GEC tests demonstrated decreases in the PPV when NIFTP was considered nonmalignant. In the era of NIFTP, a "positive" test result for either the Afirma GEC or ThyroSeq should be interpreted in light of clinical factors and should not exclude conservative (ie, lobectomy) surgical management. ATA 2015 "very low suspicion" nodules, even with "suspicious" Afirma GEC results, were not found to demonstrate malignancy in this series. Cancer Cytopathol 2018. © 2018 American Cancer Society.


Asunto(s)
Adenocarcinoma Folicular/diagnóstico , Biomarcadores de Tumor/genética , Carcinoma Papilar/diagnóstico , Perfilación de la Expresión Génica , Neoplasias de la Tiroides/clasificación , Neoplasias de la Tiroides/diagnóstico , Nódulo Tiroideo/diagnóstico , Adenocarcinoma Folicular/genética , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina , Carcinoma Papilar/genética , Pruebas Diagnósticas de Rutina , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Mutación , Pronóstico , Estudios Retrospectivos , Neoplasias de la Tiroides/genética , Nódulo Tiroideo/genética , Adulto Joven
17.
Medicine (Baltimore) ; 97(12): e0181, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29561433

RESUMEN

RATIONALE: Primary testicular natural killer (NK)/T-cell lymphoma is an extremely rare and highly aggressive lymphoid malignancy. At present, only 20 cases have been reported. PATIENT CONCERNS: A 32-year-old Chinese man complained of discomfort and swelling of his right testicle for 3 months. Physical examination revealed a 10 × 10 × 9.5 cm mass on the right side of the scrotum area. DIAGNOSES: Pathologic evaluation showed effacement of normal testicular parenchymal architecture by small-to-medium-sized lymphoid cells with irregular nuclear profiles, and immunohistochemical studies positively expressed CD2, CD56, cytoplasmic CD3, granzyme B, perforin, and TIA-1. Therefore, the patient was diagnosed with primary testicular NK/T-cell lymphoma. INTERVENTIONS: The patient underwent CHOP (cyclophosphamide (CTX), pirarubicin (THP-ADM), vincristine (VCR), and prednisolone (PDN)) chemotherapy. OUTCOMES: The patient relapsed 5 months after his initial presentation and died after an infection and gastrointestinal bleed. LESSONS: Clinicopathological assessment of this rare case highlights the clinical and pathological features required to diagnose testicular NK/T-cell lymphoma. In addition, it highlights the dismal survival of these patients. We hope it may serve as a reference aiding prompt clinical diagnosis, which can hopefully improve the survival and quality of life of these patients.


Asunto(s)
Linfoma de Células T/diagnóstico por imagen , Linfoma de Células T/patología , Neoplasias Testiculares/diagnóstico por imagen , Neoplasias Testiculares/patología , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica , Diagnóstico Diferencial , Resultado Fatal , Humanos , Linfoma de Células T/tratamiento farmacológico , Linfoma de Células T/cirugía , Masculino , Neoplasias Testiculares/tratamiento farmacológico , Neoplasias Testiculares/cirugía
18.
Medicine (Baltimore) ; 97(2): e9648, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29480878

RESUMEN

RATIONALE: The palatine tonsil is an important component of Waldeyer's ring and a site commonly involved by lymphoma. Interestingly, although it is a site of mucosa-associated lymphoid tissue (MALT), primary MALT lymphoma of the palatine tonsil is rare, especially with prominent plasmacytic differentiation. PATIENT CONCERNS: A 59-year-old woman presented to the hospital with a 1-month history of odynophagia. The patient had no fever or pruritus during this period and she declared no family history of hematolymphoid malignancy. DIAGNOSIS: Histopathological examination demonstrated effacement of tonsil architecture; normal follicles were replaced by plasmacytoid tumor cells and small lymphocytes. The tumor cells expanded the marginal zone and infiltrated interfollicular regions, as well as scattered residual follicles. Immunostaining showed tumor cells positive for cluster of differentiation (CD)20, CD79a, paired box-5, Mum 1, and B cell lymphoma (Bcl)-2, and negative for CD5, CD 23, cyclin D1, Bcl-6, and CD10. Staining for κ and λ showed prominent light chain restriction. The tumor was classified as tonsil MALT lymphoma with prominent plasmacytic differentiation. INTERVENTIONS: After the patient was diagnosed with MALT lymphoma with prominent plasmacytic differentiation, she underwent complete surgical resection and radiotherapy. OUTCOMES: There was no recurrence evident at 6-months follow-up. LESSONS: Primary tonsil MALT lymphoma with prominent plasmacytic differentiation is very rare and difficult to distinguish from other B-cell lymphomas with plasmacytoid morphology, such as follicular lymphoma, lymphoplasmacytic lymphoma, and chronic lymphocytic leukemia/small lymphocytic lymphoma. Accurate diagnosis of this entity is important in guiding therapy so as to avoid overtreatment.


Asunto(s)
Linfoma de Células B de la Zona Marginal/diagnóstico , Linfoma de Células B de la Zona Marginal/patología , Tonsila Palatina/patología , Diagnóstico Diferencial , Femenino , Humanos , Linfoma de Células B de la Zona Marginal/radioterapia , Linfoma de Células B de la Zona Marginal/cirugía , Persona de Mediana Edad
19.
Hum Pathol ; 76: 110-116, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29217426

RESUMEN

Composite lymphoma of T-/B-cell type is rare, and follicular lymphoma composite with peripheral T-cell lymphoma (PTCL) has not previously been reported. We report such a case with both neoplastic components displaying a unique zone of distribution. A 75-year-old male patient presented with generalized lymphadenopathy. Sections of axillary lymph node demonstrated potentially 2 clonal processes, PTCL with aberrant CD20 expression and follicular lymphoma. Interestingly, the 2 neoplastic components were confined to their respective classic distribution zones, with PTCL occupying the interfollicular areas and follicular lymphoma residing in follicles. Both populations were detected by flow cytometry, but their immunophenotypes were insufficient to define clonality. Nonetheless, biclonality was demonstrated by lymphoid receptor gene rearrangement analyses. Molecular cytogenetics showed IGH/BCL2 fusion in the follicular lymphoma and amplification of IGH gene or trisomy/tetrasomy 14 in the PTCL. The current case underscores the complexity of composite lymphoma and advocates a multimodal approach to establishing the diagnosis.


Asunto(s)
Linfoma Compuesto , Linfoma de Células B , Linfoma Folicular , Linfoma de Células T Periférico , Anciano , Antígenos CD20/análisis , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Linfoma Compuesto/genética , Linfoma Compuesto/inmunología , Linfoma Compuesto/patología , Linfoma Compuesto/terapia , Amplificación de Genes , Fusión Génica , Genes de las Cadenas Pesadas de las Inmunoglobulinas , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Linfoma de Células B/genética , Linfoma de Células B/inmunología , Linfoma de Células B/patología , Linfoma de Células B/terapia , Linfoma Folicular/genética , Linfoma Folicular/inmunología , Linfoma Folicular/patología , Linfoma Folicular/terapia , Linfoma de Células T Periférico/genética , Linfoma de Células T Periférico/inmunología , Linfoma de Células T Periférico/patología , Linfoma de Células T Periférico/terapia , Masculino , Proteínas Proto-Oncogénicas c-bcl-2/genética , Tetrasomía , Trisomía
20.
Am J Clin Pathol ; 149(1): 55-66, 2017 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-29228125

RESUMEN

OBJECTIVES: Myeloid neoplasms (MNs) after solid organ transplant are rare, and their clinicopathologic features have not been well characterized. METHODS: We retrospectively analyzed 23 such cases. RESULTS: The ages ranged from 2 to 76 years, with a median of 59 years at the diagnosis. The median interval between the transplant and diagnosis was 56 months (range, 8-384 months). The transplanted organs included liver in five, kidney in six, lung in five, heart in six, and heart/lung in one case(s). The types of MN included acute myeloid leukemia (AML) in 12, myelodysplastic syndrome (MDS) in five, chronic myelogenous leukemia (CML) in four, and myeloproliferative neoplasms (MPNs) in two cases. Cytogenetics demonstrated clonal abnormalities in 18 (78.3%) cases, including unbalanced changes in 10 (55.6%), Philadelphia chromosome in four (22.2%), and other balanced aberrations in four (22.2%) cases. Thirteen (56.5%) patients died, with an estimated median survival of 9 months. With disease stratification, AML and MDS have short median survivals (3.5 and 7 months, respectively), with an initial precipitous decline of the survival curve. CONCLUSIONS: Posttransplant MNs have a latency period between that seen in AML/MDS related to alkylators and that associated with topoisomerase II inhibitors. The cytogenetic profile suggests a mutagenic effect on leukemogenesis. The clinical outcome for AML/MDS is dismal, with death occurring at an early phase of treatment.


Asunto(s)
Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicos/genética , Trastornos Mieloproliferativos/genética , Trasplante de Órganos/efectos adversos , Adulto , Anciano , Médula Ósea/patología , Preescolar , Citogenética , Humanos , Estimación de Kaplan-Meier , Riñón/patología , Leucemia Mielógena Crónica BCR-ABL Positiva/mortalidad , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Leucemia Mieloide Aguda/mortalidad , Leucemia Mieloide Aguda/patología , Hígado/patología , Pulmón/patología , Persona de Mediana Edad , Mutación , Síndromes Mielodisplásicos/mortalidad , Síndromes Mielodisplásicos/patología , Trastornos Mieloproliferativos/mortalidad , Trastornos Mieloproliferativos/patología , Miocardio/patología , Estudios Retrospectivos
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