Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 390
Filtrar
1.
Am J Hematol ; 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39016111

RESUMO

Cytogenomic characterization is crucial for the classification and risk stratification of acute myeloid leukemia (AML), thereby facilitating therapeutic decision-making. We examined the clinical utility of optical genome mapping (OGM) in 159 AML patients (103 newly diagnosed and 56 refractory/relapsed), all of whom also underwent chromosomal banding analysis (CBA), fluorescence in situ hybridization, and targeted next-generation sequencing. OGM detected nearly all clinically relevant cytogenetic abnormalities that SCG identified with >99% sensitivity, provided the clonal burden was above 20%. OGM identified additional cytogenomic aberrations and/or provided information on fusion genes in 77 (48%) patients, including eight patients with normal karyotypes and four with failed karyotyping. The most common additional alterations identified by OGM included chromoanagenesis (n = 23), KMT2A partial tandem duplication (n = 11), rearrangements involving MECOM (n = 7), NUP98 (n = 2), KMT2A (n = 2), JAK2 (n = 2), and other gene fusions in 17 patients, with 10 showing novel fusion gene partners. OGM also pinpointed fusion genes in 17 (11%) patients where chromosomal rearrangements were concurrently detected by OGM and CBA. Overall, 24 (15%) aberrations were identified exclusively by OGM and had the potential to alter AML classification, risk stratification, and/or clinical trial eligibility. OGM emerges as a powerful tool for identifying fusion genes and detecting subtle or cryptic cytogenomic aberrations that may otherwise remain undetectable by CBA.

2.
J Hum Hypertens ; 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38987381

RESUMO

The values used to define white-coat and masked blood pressure (BP) effects are usually arbitrary. This study aimed at investigating the accuracy of various cutoffs based on the differences (ΔBP) between office BP (OBP) and 24h-ambulatory BP monitoring (ABPM) to identify white-coat (WCH) and masked (MH) hypertension, which are phenotypes coupled with adverse prognosis. This cross-sectional study included 11,350 [Derivation cohort; 45% men, mean age = 55.1 ± 14.1 years, OBP = 132.1 ± 17.6/83.9 ± 12.5 mmHg, 24 h-ABPM = 121.6 ± 11.4/76.1 ± 9.6 mmHg, 25% using antihypertensive medications (AH)] and 7220 (Validation cohort; 46% men, mean age = 58.6 ± 15.1 years, OBP = 136.8 ± 18.7/87.6 ± 13.0 mmHg, 24 h-ABPM = 125.5 ± 12.6/77.7 ± 10.3 mmHg; 32% using AH) unique individuals who underwent 24 h-ABPM. We compared the sensitivity, specificity, positive and negative predictive values and area under the curve (AUC) of diverse ΔBP cutoffs to detect WCH (ΔsystolicBP/ΔdiastolicBP = 28/17, 20/15, 20/10, 16/11, 15/9, 14/9 mmHg and ΔsystolicBP = 13 and 10 mmHg) and MH (ΔsystolicBP/ΔdiastolicBP = -14/-9, -5/-2, -3/-1, -1/-1, 0/0, 2/2 mmHg and ΔsystolicBP = -5 and -3mmHg). The 20/15 mmHg cutoff showed the best AUC (0.804, 95%CI = 0.794-0.814) to detect WCH, while the 2/2 mmHg cutoff showed the highest AUC (0.741, 95%CI = 0.728-0.754) to detect MH in the Derivation cohort. Both cutoffs also had the best accuracy to detect WCH (0.767, 95%CI = 0.754-0.780) and MH (0.767, 95%CI = 0.750-0.784) in the Validation cohort. In secondary analyses, these cutoffs had the best accuracy to detect individuals with higher and lower office-than-ABPM grades in both cohorts. In conclusion, the 20/15 and 2/2 mmHg ΔBP cutoffs had the best accuracy to detect hypertensive patients with WCH and MH, respectively, and can serve as indicators of marked white-coat and masked BP effects derived from 24 h-ABPM.

3.
Int J Dermatol ; 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38955474

RESUMO

BACKGROUND: Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder (PCSM-LPD) is an increasingly recognized entity with heterogeneous management strategies that may include radiotherapy. OBJECTIVE: Our aim was to characterize treatment options for PCSM-LPD, with a focus on the role of radiotherapy. METHODS: This is a retrospective review of 46 patients seen in the Cutaneous Lymphoma Program at the University of Texas MD Anderson Cancer Center, with a clinicopathologic review consistent with PCSM-LPD. All patients were biopsied and underwent observation, topical/intralesional steroids, and/or radiotherapy. Patients were confirmed to have residual disease prior to radiotherapy. RESULTS: All patients achieved a complete response (CR). Sixteen patients (35%) received focal radiotherapy, with a CR in 15 (94%). The CR rate following ultra-low-dose radiotherapy (4 Gy in 1-2 fractions) was 92%. There was no grade 3 toxicity after radiotherapy. Thirty patients were managed without radiotherapy, with excision and observation or steroids. CONCLUSION: Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder has excellent outcomes, and management strategies may include observation following biopsy, steroids, or radiation. Ultra-low-dose radiotherapy results in excellent outcomes with limited toxicity and is effective for persistent lesions after steroidal therapy.

4.
Am J Hematol ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38957951

RESUMO

DISEASE OVERVIEW: Epstein Barr virus-positive (EBV+) diffuse large B-cell lymphoma (DLBCL), not otherwise specified (NOS) is an aggressive B-cell lymphoma associated with EBV infection included in the WHO classification of lymphoid neoplasms since 2016. Although historically associated to poor prognosis, outcomes seem to have improved in the era of chemoimmunotherapy. DIAGNOSIS: The diagnosis is established through meticulous pathological evaluation. Detection of EBV-encoded RNA (EBER) is the standard diagnostic method. The ICC 2022 specifies EBV+ DLBCL, NOS as occurring when >80% of malignant cells express EBER, whereas the WHO-HAEM5 emphasizes that the majority of tumor cells should be EBER positive without setting a defined threshold. The differential diagnosis includes plasmablastic lymphoma, DLBCL associated with chronic inflammation, primary effusion lymphoma, among others. RISK-STRATIFICATION: The International Prognostic Index (IPI) and the Oyama score can be used for risk-stratification. The Oyama score includes age >70 years and presence of B symptoms. The expression of CD30 and PD-1/PD-L1 are emerging as potential adverse but targetable biomarkers. MANAGEMENT: Patients with EBV+ DLBCL, NOS, should be staged and managed following similar guidelines than patients with EBV-negative DLBCL. EBV+ DLBCL, NOS, however, might have a worse prognosis than EBV-negative DLBCL in the era of chemoimmunotherapy. Therefore, inclusion of patients in clinical trials when available is recommended. There is an opportunity to study and develop targeted therapy in the management of patients with EBV+ DLBCL, NOS.

5.
Mod Pathol ; 37(8): 100512, 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38734236

RESUMO

This review focuses on mature T cells, natural killer (NK) cells, and stroma-derived neoplasms in the fifth edition of the World Health Organization classification of hematolymphoid tumors, including changes from the revised fourth edition. Overall, information has expanded, primarily due to advancements in genomic understanding. The updated classification adopts a hierarchical format. The updated classification relies on a multidisciplinary approach, incorporating insights from a diverse group of pathologists, clinicians, and geneticists. Indolent NK-cell lymphoproliferative disorder of the gastrointestinal tract, Epstein-Barr virus-positive nodal T- and NK-cell lymphoma, and several stroma-derived neoplasms of lymphoid tissues have been newly introduced or included. The review also provides guidance on how the fifth edition of the World Health Organization classification of hematolymphoid tumors can be applied in routine clinical practice.

6.
Feitosa, Audes Diogenes de Magalhães; Barroso, Weimar Kunz Sebba; Mion Junior, Decio; Nobre, Fernando; Mota-Gomes, Marco Antonio; Jardim, Paulo Cesar Brandão Veiga; Amodeo, Celso; Oliveira, Adriana Camargo; Alessi, Alexandre; Sousa, Ana Luiza Lima; Brandão, Andréa Araujo; Pio-Abreu, Andrea; Sposito, Andrei C; Pierin, Angela Maria Geraldo; Paiva, Annelise Machado Gomes de; Spinelli, Antonio Carlos de Souza; Machado, Carlos Alberto; Poli-de-Figueiredo, Carlos Eduardo; Rodrigues, Cibele Isaac Saad; Forjaz, Claudia Lucia de Moraes; Sampaio, Diogo Pereira Santos; Barbosa, Eduardo Costa Duarte; Freitas, Elizabete Viana de; Cestario, Elizabeth do Espirito Santo; Muxfeldt, Elizabeth Silaid; Lima Júnior, Emilton; Feitosa, Fabiana Gomes Aragão Magalhães; Consolim-Colombo, Fernanda Marciano; Almeida, Fernando Antônio de; Silva, Giovanio Vieira da; Moreno Júnior, Heitor; Finimundi, Helius Carlos; Guimarães, Isabel Cristina Britto; Gemelli, João Roberto; Barreto Filho, José Augusto Soares; Vilela-Martin, José Fernando; Ribeiro, José Marcio; Yugar-Toledo, Juan Carlos; Magalhães, Lucélia Batista Neves Cunha; Drager, Luciano F; Bortolotto, Luiz Aparecido; Alves, Marco Antonio de Melo; Malachias, Marcus Vinícius Bolívar; Neves, Mario Fritsch Toros; Santos, Mayara Cedrim; Dinamarco, Nelson; Moreira Filho, Osni; Passarelli Júnior, Oswaldo; Vitorino, Priscila Valverde de Oliveira; Miranda, Roberto Dischinger; Bezerra, Rodrigo; Pedrosa, Rodrigo Pinto; Paula, Rogerio Baumgratz de; Okawa, Rogério Toshiro Passos; Póvoa, Rui Manuel dos Santos; Fuchs, Sandra C; Lima, Sandro Gonçalves de; Inuzuka, Sayuri; Ferreira-Filho, Sebastião Rodrigues; Fillho, Silvio Hock de Paffer; Jardim, Thiago de Souza Veiga; Guimarães Neto, Vanildo da Silva; Koch, Vera Hermina Kalika; Gusmão, Waléria Dantas Pereira; Oigman, Wille; Nadruz Junior, Wilson.
Arq. bras. cardiol ; 121(4): e20240113, abr.2024. ilus, tab
Artigo em Português | CONASS, Sec. Est. Saúde SP, SESSP-IDPCPROD, Sec. Est. Saúde SP | ID: biblio-1552858
7.
Hum Pathol ; 146: 1-7, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38460798

RESUMO

Enhancer of zeste homolog 2 (EZH2) expression is found in about 40% of mantle cell lymphoma (MCL) patients, which is associated with aggressive histology, high Ki-67 proliferation rate, p53 mutant pattern and inferior overall survival (OS). We conducted 11-gene (ATM, BIRC3, CCND1, KMT2C, KMT2D, NOTCH1, NOTCH2, RB1, TP53, TRAF2 and UBR5) next generation sequencing panel to shed more light on MCL with EZH2 expression (EZH2+ MCL). EZH2+ MCL more frequently harbor TP53 mutation compared to EZH2(-) MCL (41.2% vs. 19.1%, respectively, p = 0.045). TP53 mutation and EZH2 expression demonstrated overlapping features including aggressive histology, high Ki-67 proliferation rate and p53 mutant pattern by immunohistochemistry. Comparative analysis disclosed that EZH2 expression correlates with high Ki-67 proliferation rate irrespective of TP53 mutation. Aggressive histology is associated with EZH2 expression or TP53 mutation, possibly via independent mechanisms. p53 mutant pattern is due to TP53 mutation. MCL patients with EZH2 expression or TP53 mutation show inferior outcome and when both are present, patients have dismal outcome.


Assuntos
Biomarcadores Tumorais , Proteína Potenciadora do Homólogo 2 de Zeste , Linfoma de Célula do Manto , Mutação , Proteína Supressora de Tumor p53 , Humanos , Proteína Potenciadora do Homólogo 2 de Zeste/genética , Proteína Potenciadora do Homólogo 2 de Zeste/análise , Linfoma de Célula do Manto/genética , Linfoma de Célula do Manto/patologia , Linfoma de Célula do Manto/mortalidade , Proteína Supressora de Tumor p53/genética , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Idoso de 80 Anos ou mais , Adulto , Análise Mutacional de DNA , Imuno-Histoquímica , Antígeno Ki-67/análise , Antígeno Ki-67/metabolismo , Proliferação de Células
9.
Cells ; 13(5)2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38474383

RESUMO

Granulomatous Mycosis Fungoides (GMF) is a rare form of mycosis fungoides (MF) characterized by a granulomatous infiltrate associated with the neoplastic lymphoid population and is considered to have a worse prognosis compared with regular MF. The upregulation of the T helper (Th) axis, especially Th17, plays an important role in the pathogenesis of several inflammatory/infectious granulomatous cutaneous diseases, but its role in GMF is still not elucidated to date. In this study, we evaluated the immunohistochemical expression of Th1 (Tbet), Th2 (GATA-3), Th17 (RORγT), T regulatory (Foxp3), and immune checkpoint (IC) (PD-1 and PD-L1) markers in a cohort of patients with GMF and MF with large cell transformation (MFLCT). Skin biopsies from 49 patients (28 GMF and 21 MFLCT) were studied. Patients with GMF were associated with early clinical stage (p = 0.036) and lower levels of lactate dehydrogenase (p = 0.042). An increased percentage of cells positive for Tbet (p = 0.017), RORγT (p = 0.001), and PD-L1 (p = 0.011) was also observed among the GMF specimens, while a stronger PD-1 intensity was detected in cases of MFLCT. In this cohort, LCT, RORγT < 10%, Foxp3 < 10%, age, and advanced stage were associated with worse overall survival (OS) in univariate analysis. GMF demonstrated Th1 (cellular response) and Th17 (autoimmunity) phenotype, seen in early MF and granulomatous processes, respectively, which may be related to the histopathological appearance and biological behavior of GMF. Further studies involving larger series of cases and more sensitive techniques are warranted.


Assuntos
Micose Fungoide , Neoplasias Cutâneas , Humanos , Membro 3 do Grupo F da Subfamília 1 de Receptores Nucleares , Neoplasias Cutâneas/patologia , Antígeno B7-H1/metabolismo , Regulação para Cima , Receptor de Morte Celular Programada 1/metabolismo , Fator de Maturação da Glia/metabolismo , Micose Fungoide/patologia , Fatores de Transcrição Forkhead/metabolismo
10.
Am J Surg Pathol ; 48(6): e43-e64, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38451836

RESUMO

Breast implant-associated anaplastic large cell lymphoma has been recognized as a distinct entity in the World Health Organization classification of hematolymphoid neoplasms. These neoplasms are causally related to textured implants that were used worldwide until recently. Consequently, there is an increased demand for processing periprosthetic capsules, adding new challenges for surgeons, clinicians, and pathologists. In the literature, the focus has been on breast implant-associated anaplastic large cell lymphoma; however, benign complications related to the placement of breast implants occur in up to 20% to 30% of patients. Imaging studies are helpful in assessing patients with breast implants for evidence of implant rupture, changes in tissues surrounding the implants, or regional lymphadenopathy related to breast implants, but pathologic examination is often required. In this review, we couple our experience with a review of the literature to describe a range of benign lesions associated with breast implants that can be associated with different clinical presentations or pathogenesis and that may require different diagnostic approaches. We illustrate the spectrum of the most common of these benign disorders, highlighting their clinical, imaging, gross, and microscopic features. Finally, we propose a systematic approach for the diagnosis and handling of breast implant specimens in general.


Assuntos
Implante Mamário , Implantes de Mama , Linfoma Anaplásico de Células Grandes , Humanos , Implantes de Mama/efeitos adversos , Feminino , Linfoma Anaplásico de Células Grandes/patologia , Linfoma Anaplásico de Células Grandes/etiologia , Implante Mamário/efeitos adversos , Implante Mamário/instrumentação , Valor Preditivo dos Testes , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Relevância Clínica
11.
Plast Reconstr Surg ; 2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38412359

RESUMO

BACKGROUND: In the absence of high-quality evidence, there is a need to provide guidelines and multidisciplinary consensus recommendations on Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL). The purpose of this expert consensus conference was to evaluate the existing evidence regarding the diagnosis, and management of BIA-ALCL caused by textured implants. The aim is to provide evidence-based recommendations regarding the management and prevention of BIA-ALCL. METHODS: A comprehensive search was conducted in the MEDLINE, Cochrane Library, and Embase databases, supplemented by manual searches of relevant English language articles and "related articles" sections. Studies focusing on breast surgery and lymphoma associated with breast implants were included for analysis. Meta-analyses were performed and reviewed by experts selected by the American Association of Plastic Surgeons by a Delphi consensus method. RESULTS: 840 articles between January 2011 and January 2023 were initially identified and screened. Full-text of 188 articles were assessed. An additional 43 articles were excluded for focus, and 145 articles were included in the synthesis of results, with 105 of them being case reports or case series. The analysis encompassed a comprehensive examination of the selected articles to determine the incidence, risk factors, clinical presentation, diagnostic approaches, and treatment modalities related to BIA-ALCL. CONCLUSIONS: Plastic surgeons should be aware of the elevated risks by surface type, implement appropriate patient surveillance, and follow the recommendations outlined in this statement to ensure patient safety and optimize outcomes. Ongoing research on pathogenesis, genetic drivers, and preventative and prophylactic measures is crucial for improving patient care.

12.
Am J Clin Pathol ; 161(6): 598-608, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38372648

RESUMO

OBJECTIVES: Flow cytometric immunophenotyping (FCI) is a fast and sensitive method for characterizing hematolymphoid neoplasms. It is not widely used in the workup of systemic mastocytosis (SM), in part because of the technical challenges and in part because the utility of FCI in assessing mast cells is not well understood. The objectives of this study were to assess the diagnostic utility of FCI in establishing a diagnosis of SM and distinguishing SM from nonneoplastic mast cells and to examine the immunophenotypic findings among SM subtypes. METHODS: We performed FCI on bone marrow samples suspicious for SM using a panel consisting of CD2, CD25, CD30, CD45, CD117, and HLA-DR. RESULTS: The cohort included 88 SM cases: 67 without an associated hematologic neoplasm (AHN) (PureSM) and 21 with an AHN (SM-AHN). We also assessed 40 normal/reactive controls. Overall, FCI was adequate for interpretation in 87 of 88 (99%) cases and detected at least 1 immunophenotypic aberrancy in 100% of SM cases. CD2, CD25, and CD30 were positive in 78%, 98%, and 90% of SM cases vs 0%, 13%, and 13% of cases with normal/reactive mast cells (P < .0001 for all). Two or 3 abnormalities were observed in 92% of SM cases but not in normal/reactive mast cells. Among SM cases, SM-AHN showed statistically significant less CD2 (38% vs 91%, P < .0001) and less co-expression of all 3 aberrant markers (CD2, CD25, and CD30 positive in 38% vs 86% of cases; P < .0001) than PureSM. Immunohistochemical analysis showed consistently weaker or focal expression of CD2, CD25, and CD30 than FCI, with CD2 and CD30 being falsely negative in 40% and 50% cases, respectively. A KIT D816V mutation was detected in 67% of PureSM cases and 76% of SM-AHN cases. CONCLUSIONS: Flow cytometric immunophenotyping is a quick, sensitive, high-yield tool for evaluating the immunophenotype of mast cells. An abnormal FCI finding should prompt careful histologic evaluation and sensitive KIT D816V mutation testing to address the possibility of SM. CD2, CD25, and CD30 are important markers for the detection of immunophenotypic aberrancy of mast cells, and their frequencies of aberrancy differ across SM subtypes.


Assuntos
Citometria de Fluxo , Imunofenotipagem , Mastócitos , Mastocitose Sistêmica , Humanos , Imunofenotipagem/métodos , Mastocitose Sistêmica/diagnóstico , Mastocitose Sistêmica/patologia , Mastocitose Sistêmica/imunologia , Citometria de Fluxo/métodos , Mastócitos/patologia , Mastócitos/imunologia , Pessoa de Meia-Idade , Feminino , Masculino , Adulto , Idoso , Sensibilidade e Especificidade , Idoso de 80 Anos ou mais , Adulto Jovem , Adolescente
14.
Mod Pathol ; 37(2): 100405, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38104893

RESUMO

Large or blastoid B-cell neoplasms that are SOX11+ are a diagnostic dilemma and raise a differential diagnosis of cyclin D1-negative blastoid/pleomorphic mantle cell lymphoma (MCL) versus diffuse large B-cell lymphoma (DLBCL) or blastoid high-grade B-cell lymphoma (HGBL) with aberrant SOX11 expression. Here we report a study cohort of 13 SOX11+ large/blastoid B-cell neoplasms. Fluorescence in situ hybridization analysis was negative for CCND1 rearrangement in all 13 cases; 1 of 8 (12.5%) cases tested showed CCND2 rearrangement and 2 (25%) cases had extracopies of CCND2. Gene expression profiling showed that the study group had a gene expression signature similar to cyclin D1+ blastoid/pleomorphic MCL but different from DLBCL. Principal component analysis revealed that the cohort cases overlapped with cyclin D1+ blastoid/pleomorphic MCL but had minimal overlap with DLBCL. All patients in the cohort had clinicopathologic features similar to those reported for patients with cyclin D1+ MCL. We also performed a survey of SOX11 expression in a group of 85 cases of DLBCL and 24 cases of blastoid HGBL. SOX11 expression showed a 100% specificity and positive predictive value for the diagnosis of MCL. Overall, the results support the conclusion that large or blastoid B-cell neoplasms that are positive for SOX11 are best classified as cyclin D1-negative blastoid/pleomorphic MCL, and not as DLBCL or blastoid HGBL. We also conclude that SOX11 is a specific marker for the diagnosis of MCL, including cyclin D1-negative blastoid/pleomorphic MCL cases and should be performed routinely on blastoid/large B-cell neoplasms to help identify potential cases of cyclin D1-negative blastoid/pleomorphic MCL.


Assuntos
Linfoma Difuso de Grandes Células B , Linfoma de Célula do Manto , Adulto , Humanos , Linfoma de Célula do Manto/metabolismo , Ciclina D1/genética , Hibridização in Situ Fluorescente , Imuno-Histoquímica , Linfoma Difuso de Grandes Células B/patologia , Fatores de Transcrição SOXC/genética
15.
Arch Pathol Lab Med ; 2023 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-38059511

RESUMO

CONTEXT.­: It is known that a subset of cases of classic Hodgkin lymphoma (CHL) with B-cell-rich nodules (lymphocyte-rich CHL) exhibits morphologic and immunophenotypic features that overlap with nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL), raising diagnostic difficulties that can be resolved in most cases by performing an adequate battery of immunohistochemical studies. OBJECTIVE.­: To fully characterize cases of T-cell-rich Hodgkin lymphoma where a specific diagnosis of NLPHL (ie, pattern D) or CHL could not be made even after complete immunophenotypic investigation. DESIGN.­: The clinical, immunomorphologic, and molecular (when applicable) presentation of 3 cases of T-cell-rich Hodgkin lymphoma was thoroughly investigated. RESULTS.­: These 3 cases harbored lymphocyte-predominant-like and Hodgkin and Reed-Sternberg-like cells that partially expressed B-cell and CHL markers and were negative for Epstein-Barr virus-encoded small RNA, in a T-cell-rich background with residual follicular dendritic cell meshworks; 1 case had frequent and the other 2 cases scant/absent eosinophils and plasma cells. Two patients with advanced-stage (III or IV) disease presented with axillary and supraclavicular lymphadenopathy, respectively, and without B symptoms. These patients underwent NLPHL-like therapeutic management with 6 cycles of R-CHOP (rituximab, cyclophosphamide, doxorubicin hydrochloride [hydroxydaunorubicin], vincristine sulfate [Oncovin], and prednisone) chemotherapy; both are in complete remission 7 years posttherapy. One patient presented with stage I disease involving an internal mammary lymph node without B-symptoms and was treated with surgical excision alone; this patient is also in complete remission 1 year later. CONCLUSIONS.­: These cases illustrate overlapping features of T-cell-rich NLPHL and CHL with neoplastic cells expressing both B-cell program and CHL markers. This underrecognized overlap has not been fully illustrated in the literature, although it portrays a therapeutic challenge. These neoplasms may deserve in-depth investigation in the future that may bring up diagnostic or theragnostic implications.

17.
Mod Pathol ; 36(12): 100349, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37820764

RESUMO

A small subset of high-grade B-cell lymphoma (HGBL) with blastoid morphology remains poorly understood. We assessed 55 cases of blastoid HGBL, not otherwise specified (NOS) and compared their clinicopathologic characteristics with those of 81 non-blastoid HGBL-NOS and 62 blastoid HGBL with MYC and BCL2, with or without BCL6 rearrangements (double/triple-hit lymphoma [D/THL]). Patients with blastoid HGBL-NOS showed similar clinicopathologic features to patients with blastoid D/THLs and non-blastoid HGBL-NOS, except more frequently with a history of low-grade B-cell lymphoma, bone marrow involvement, and BCL2 rearrangement (P < .05) compared to the latter. MYC rearrangement (MYC-R), detected in 40% of blastoid HGBL-NOS, was associated with aggressive clinicopathologic features and poorer overall survival, even worse than that of blastoid D/THL (P < .05). Transcriptome profiling revealed a distinct gene expression pattern with differentially expressed genes enriched in MYC and P53-targeted genes in MYC-R blastoid HGBL-NOS. Fifty-two percent of blastoid HGBL-NOS had a double hit-like signature, similar to non-blastoid HGBL-NOS (P = .73). The overall survival of the blastoid HGBL-NOS group was similar to that of the blastoid D/THL group but appeared poorer than that of its non-blastoid counterparts (P = .07). Taken together, blastoid HGBL-NOS is an aggressive B-cell lymphoma that shares overlapping clinicopathologic and genetic features with non-blastoid HGBL-NOS. MYC-R in patients with blastoid HGBL-NOS identifies a highly aggressive subgroup with distinct aggressive clinicopathologic features, unique molecular signatures, and a dismal clinical outcome.


Assuntos
Linfoma de Células B , Linfoma Difuso de Grandes Células B , Humanos , Rearranjo Gênico , Linfoma de Células B/patologia , Proteínas Proto-Oncogênicas c-myc/genética , Biomarcadores Tumorais/genética , Proteínas Proto-Oncogênicas c-bcl-2/genética , Linfoma Difuso de Grandes Células B/patologia , Proteínas Proto-Oncogênicas c-bcl-6/genética
18.
Feitosa, Audes Diógenes de Magalhães; Barroso, Weimar Kunz Sebba; Mion Júnior, Décio; Nobre, Fernando; Mota-Gomes, Marco Antonio; Jardim, Paulo Cesar Brandão Veiga; Amodeo, Celso; Camargo, Adriana; Alessi, Alexandre; Sousa, Ana Luiza Lima; Brandão, Andréa Araujo; Pio-Abreu, Andrea; Sposito, Andrei Carvalho; Pierin, Angela Maria Geraldo; Paiva, Annelise Machado Gomes de; Spinelli, Antonio Carlos de Souza; Machado, Carlos Alberto; Poli-de-Figueiredo, Carlos Eduardo; Rodrigues, Cibele Isaac Saad; Forjaz, Cláudia Lúcia de Moraes; Sampaio, Diogo Pereira Santos; Barbosa, Eduardo Costa Duarte; Freitas, Elizabete Viana de; Cestário , Elizabeth do Espírito Santo; Muxfeldt, Elizabeth Silaid; Lima Júnior, Emilton; Campana, Erika Maria Gonçalves; Feitosa, Fabiana Gomes Aragão Magalhães; Consolim-Colombo, Fernanda Marciano; Almeida, Fernando Antônio de; Silva, Giovanio Vieira da; Moreno Júnior, Heitor; Finimundi, Helius Carlos; Guimarães, Isabel Cristina Britto; Gemelli, João Roberto; Barreto Filho, José Augusto Soares; Vilela-Martin, José Fernando; Ribeiro, José Marcio; Yugar-Toledo, Juan Carlos; Magalhães, Lucélia Batista Neves Cunha; Drager, Luciano Ferreira; Bortolotto, Luiz Aparecido; Alves, Marco Antonio de Melo; Malachias, Marcus Vinícius Bolívar; Neves, Mario Fritsch Toros; Santos, Mayara Cedrim; Dinamarco, Nelson; Moreira Filho, Osni; Passarelli Júnior, Oswaldo; Valverde de Oliveira Vitorino, Priscila Valverde de Oliveira; Miranda, Roberto Dischinger; Bezerra, Rodrigo; Pedrosa, Rodrigo Pinto; Paula, Rogério Baumgratz de; Okawa, Rogério Toshiro Passos; Póvoa, Rui Manuel dos Santos; Fuchs, Sandra C.; Inuzuka, Sayuri; Ferreira-Filho, Sebastião R.; Paffer Fillho, Silvio Hock de; Jardim, Thiago de Souza Veiga; Guimarães Neto, Vanildo da Silva; Koch, Vera Hermina; Gusmão, Waléria Dantas Pereira; Oigman, Wille; Nadruz, Wilson.
Preprint em Português | SciELO Preprints | ID: pps-7057

RESUMO

Hypertension is one of the primary modifiable risk factors for morbidity and mortality worldwide, being a major risk factor for coronary artery disease, stroke, and kidney failure. Furthermore, it is highly prevalent, affecting more than one-third of the global population. Blood pressure measurement is a MANDATORY procedure in any medical care setting and is carried out by various healthcare professionals. However, it is still commonly performed without the necessary technical care. Since the diagnosis relies on blood pressure measurement, it is clear how important it is to handle the techniques, methods, and equipment used in its execution with care. It should be emphasized that once the diagnosis is made, all short-term, medium-term, and long-term investigations and treatments are based on the results of blood pressure measurement. Therefore, improper techniques and/or equipment can lead to incorrect diagnoses, either underestimating or overestimating values, resulting in inappropriate actions and significant health and economic losses for individuals and nations. Once the correct diagnosis is made, as knowledge of the importance of proper treatment advances, with the adoption of more detailed normal values and careful treatment objectives towards achieving stricter blood pressure goals, the importance of precision in blood pressure measurement is also reinforced. Blood pressure measurement (described below) is usually performed using the traditional method, the so-called casual or office measurement. Over time, alternatives have been added to it, through the use of semi-automatic or automatic devices by the patients themselves, in waiting rooms or outside the office, in their own homes, or in public spaces. A step further was taken with the use of semi-automatic devices equipped with memory that allow sequential measurements outside the office (ABPM; or HBPM) and other automatic devices that allow programmed measurements over longer periods (HBPM). Some aspects of blood pressure measurement can interfere with obtaining reliable results and, consequently, cause harm in decision-making. These include the importance of using average values, the variation in blood pressure during the day, and short-term variability. These aspects have encouraged the performance of a greater number of measurements in various situations, and different guidelines have advocated the use of equipment that promotes these actions. Devices that perform HBPM or ABPM, which, in addition to allowing greater precision, when used together, detect white coat hypertension (WCH), masked hypertension (MH), sleep blood pressure alterations, and resistant hypertension (RHT) (defined in Chapter 2 of this guideline), are gaining more and more importance. Taking these details into account, we must emphasize that information related to diagnosis, classification, and goal setting is still based on office blood pressure measurement, and for this reason, all attention must be given to the proper execution of this procedure.


La hipertensión arterial (HTA) es uno de los principales factores de riesgo modificables para la morbilidad y mortalidad en todo el mundo, siendo uno de los mayores factores de riesgo para la enfermedad de las arterias coronarias, el accidente cerebrovascular (ACV) y la insuficiencia renal. Además, es altamente prevalente y afecta a más de un tercio de la población mundial. La medición de la presión arterial (PA) es un procedimiento OBLIGATORIO en cualquier atención médica o realizado por diferentes profesionales de la salud. Sin embargo, todavía se realiza comúnmente sin los cuidados técnicos necesarios. Dado que el diagnóstico se basa en la medición de la PA, es claro el cuidado que debe haber con las técnicas, los métodos y los equipos utilizados en su realización. Debemos enfatizar que una vez realizado el diagnóstico, todas las investigaciones y tratamientos a corto, mediano y largo plazo se basan en los resultados de la medición de la PA. Por lo tanto, las técnicas y/o equipos inadecuados pueden llevar a diagnósticos incorrectos, subestimando o sobreestimando valores y resultando en conductas inadecuadas y pérdidas significativas para la salud y la economía de las personas y las naciones. Una vez realizado el diagnóstico correcto, a medida que avanza el conocimiento sobre la importancia del tratamiento adecuado, con la adopción de valores de normalidad más detallados y objetivos de tratamiento más cuidadosos hacia metas de PA más estrictas, también se refuerza la importancia de la precisión en la medición de la PA. La medición de la PA (descrita a continuación) generalmente se realiza mediante el método tradicional, la llamada medición casual o de consultorio. Con el tiempo, se han agregado alternativas a través del uso de dispositivos semiautomáticos o automáticos por parte del propio paciente, en salas de espera o fuera del consultorio, en su propia residencia o en espacios públicos. Se dio un paso más con el uso de dispositivos semiautomáticos equipados con memoria que permiten mediciones secuenciales fuera del consultorio (AMPA; o MRPA) y otros automáticos que permiten mediciones programadas durante períodos más largos (MAPA). Algunos aspectos en la medición de la PA pueden interferir en la obtención de resultados confiables y, en consecuencia, causar daños en las decisiones a tomar. Estos incluyen la importancia de usar valores promedio, la variación de la PA durante el día y la variabilidad a corto plazo. Estos aspectos han alentado la realización de un mayor número de mediciones en diversas situaciones, y diferentes pautas han abogado por el uso de equipos que promuevan estas acciones. Los dispositivos que realizan MRPA o MAPA, que además de permitir una mayor precisión, cuando se usan juntos, detectan la hipertensión de bata blanca (HBB), la hipertensión enmascarada (HM), las alteraciones de la PA durante el sueño y la hipertensión resistente (HR) (definida en el Capítulo 2 de esta guía), están ganando cada vez más importancia. Teniendo en cuenta estos detalles, debemos enfatizar que la información relacionada con el diagnóstico, la clasificación y el establecimiento de objetivos todavía se basa en la medición de la presión arterial en el consultorio, y por esta razón, se debe prestar toda la atención a la ejecución adecuada de este procedimiento.


A hipertensão arterial (HA) é um dos principais fatores de risco modificáveis para morbidade e mortalidade em todo o mundo, sendo um dos maiores fatores de risco para doença arterial coronária, acidente vascular cerebral (AVC) e insuficiência renal. Além disso, é altamente prevalente e atinge mais de um terço da população mundial. A medida da PA é procedimento OBRIGATÓRIO em qualquer atendimento médico ou realizado por diferentes profissionais de saúde. Contudo, ainda é comumente realizada sem os cuidados técnicos necessários. Como o diagnóstico se baseia na medida da PA, fica claro o cuidado que deve haver com as técnicas, os métodos e os equipamentos utilizados na sua realização. Deve-se reforçar que, feito o diagnóstico, toda a investigação e os tratamentos de curto, médio e longo prazos são feitos com base nos resultados da medida da PA. Assim, técnicas e/ou equipamentos inadequados podem levar a diagnósticos incorretos, tanto subestimando quanto superestimando valores e levando a condutas inadequadas e grandes prejuízos à saúde e à economia das pessoas e das nações. Uma vez feito o diagnóstico correto, na medida em que avança o conhecimento da importância do tratamento adequado, com a adoção de valores de normalidade mais detalhados e com objetivos de tratamento mais cuidadosos no sentido do alcance de metas de PA mais rigorosas, fica também reforçada a importância da precisão na medida da PA. A medida da PA (descrita a seguir) é habitualmente feita pelo método tradicional, a assim chamada medida casual ou de consultório. Ao longo do tempo, foram agregadas alternativas a ela, mediante o uso de equipamentos semiautomáticos ou automáticos pelo próprio paciente, nas salas de espera ou fora do consultório, em sua própria residência ou em espaços públicos. Um passo adiante foi dado com o uso de equipamentos semiautomáticos providos de memória que permitem medidas sequenciais fora do consultório (AMPA; ou MRPA) e outros automáticos que permitem medidas programadas por períodos mais prolongados (MAPA). Alguns aspectos na medida da PA podem interferir na obtenção de resultados fidedignos e, consequentemente, causar prejuízo nas condutas a serem tomadas. Entre eles, estão: a importância de serem utilizados valores médios, a variação da PA durante o dia e a variabilidade a curto prazo. Esses aspectos têm estimulado a realização de maior número de medidas em diversas situações, e as diferentes diretrizes têm preconizado o uso de equipamentos que favoreçam essas ações. Ganham cada vez mais espaço os equipamentos que realizam MRPA ou MAPA, que, além de permitirem maior precisão, se empregados em conjunto, detectam a HA do avental branco (HAB), HA mascarada (HM), alterações da PA no sono e HA resistente (HAR) (definidos no Capítulo 2 desta diretriz). Resguardados esses detalhes, devemos ressaltar que as informações relacionadas a diagnóstico, classificação e estabelecimento de metas ainda são baseadas na medida da PA de consultório e, por esse motivo, toda a atenção deve ser dada à realização desse procedimento.

19.
Arq Bras Cardiol ; 120(8): e20220863, 2023 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-37586005

RESUMO

BACKGROUND: It is known that around 30% of patients have higher blood pressure (BP) values when examined at the office than at home. Worldwide, only 35% of patients with hypertension undergoing treatment have reached their BP targets. OBJECTIVE: To provide epidemiological data on BP control in the offices of a sample of Brazilian cardiologists, considering office and home BP measurement. METHODS: This is a cross-sectional analysis of patients with a hypertension diagnosis and undergoing antihypertensive treatment, with controlled BP or not. BP was assayed in the office by a medical professional and at home using home BP monitoring (HBPM). The association between categorical variables was verified using the chi-square test (p<0.05). RESULTS: The study included 2540 patients, with a mean age of 59.7 ± 15.2 years. Most patients were women (62%; n=1575). Prevalence rates of 15% (n=382) for uncontrolled white coat hypertension and 10% (n=253) for uncontrolled masked hypertension were observed. The rate of BP control in the office was 56.3% and at home, 61%. Meanwhile, 46.4% of the patients had controlled BP in and outside of the office. Greater control was observed in women and in the 49-61 years age group. Considering the new DBHA 2020 threshold for home BP control, the control rate was 42.4%. CONCLUSION: BP control in the offices of a sample of Brazilian cardiologists was 56.3%; this rate was 61% when BP was measured at home and 46.4% when considering both the office and home.


FUNDAMENTO: Sabe-se que em torno de 30% dos pacientes apresentam valores de pressão arterial (PA) mais elevados quando examinados no consultório do que em suas residências. No mundo, admite-se que apenas 35% dos hipertensos já tratados tenham alcançado meta pressórica. OBJETIVO: Fornecer dados epidemiológicos sobre o controle da PA nos consultórios, em uma amostra de cardiologistas brasileiros, avaliado pela medida de consultório e monitorização residencial da pressão arterial (MRPA). MÉTODOS: Análise transversal. Observou-se pacientes com diagnóstico de hipertensão arterial, em tratamento anti-hipertensivo, podendo ou não estar com a PA controlada. A PA foi verificada no consultório por profissional médico, e no domicílio através da MRPA. A associação entre variáveis categóricas se deu por meio do teste do qui-quadrado (p < 0,05). RESULTADOS: Foram incluídos 2.540 pacientes, com idade média 59,7 ± 15,2 anos. A maioria dos pacientes eram mulheres (62%; n = 1.575). O estudo mostrou uma prevalência de 15% (n = 382) de hipertensão do avental branco não controlada, e 10% (n = 253) de hipertensão mascarada não controlada. A taxa de controle da PA no consultório foi 56,3%, e no domicílio, de 61%; 46,4% dos pacientes tiveram PA controlada no consultório e fora dele. Observou-se maior controle no sexo feminino e na faixa etária 49-61 anos. Observando o controle domiciliar com o novo ponto de corte das Diretrizes Brasileiras de Hipertensão Arterial de 2020, a taxa de controle foi de 42,4%. CONCLUSÃO: O controle pressórico nos consultórios em uma amostra de cardiologistas brasileiros foi de 56,3%; 61% quando a PA foi obtida no domicílio, e 46,4% quando o controle foi observado tanto no consultório como no domicílio.


Assuntos
Hipertensão , Hipertensão Mascarada , Hipertensão do Jaleco Branco , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Estudos Transversais , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Hipertensão/epidemiologia , Hipertensão do Jaleco Branco/diagnóstico , Determinação da Pressão Arterial , Anti-Hipertensivos/uso terapêutico , Monitorização Ambulatorial da Pressão Arterial , Hipertensão Mascarada/diagnóstico , Pressão Sanguínea
20.
Hum Pathol ; 141: 22-29, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37634651

RESUMO

Follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) with concurrent BCL2 and IRF4 rearrangements are rare. It is unclear whether such cases should be classified as large B- cell lymphoma with IRF4 rearrangement or FL/DLBCL-not otherwise specified. We identified 5 adult patients (FL, N = 3 and FL/DLBCL, N = 2) with concurrent BCL2 and IRF4 rearrangements. The median age at presentation was 77 years, and three patients presented with advanced stage disease. Both nodal and extranodal sites were involved and involvement was not limited to head and neck region. With a median follow-up of 18 months, 1 patient died and 4 patients were alive, including 3 who received chemotherapy and 1 who was observed. The neoplasms were histologically heterogeneous, including grade 2 and 3 FL and DLBCL. Four cases coexpressed CD10, BCL6, BCL2 and MUM1/IRF4. The Ki67 labelling index ranged from 20% to 95%. In 4 patients, the percentage of cells with BCL2 rearrangement was equal to or slightly greater than the cells harboring IRF4 rearrangement. Two cases underwent next generation sequencing tailored for lymphoid neoplasms. Both lacked mutations involving IRF4 and NF-kB pathway genes that are frequently detected in large B-cell lymphoma with IRF4 rearrangement, and one case showed DLBCL-EZH2 type mutations, including KMT2D and BCL2 mutations, similar to 2 previously reported DLBCL with BCL2 and IRF4 rearrangements. Adults with FL and FL/DLBCL with BCL2 and IRF4 rearrangements display clinicopathologic and mutational features more akin to FL and DLBCL and should not be characterized as large B-cell lymphoma with IRF4 rearrangement.


Assuntos
Linfoma Folicular , Linfoma Difuso de Grandes Células B , Humanos , Rearranjo Gênico , Hibridização in Situ Fluorescente , Linfoma Folicular/genética , Linfoma Folicular/patologia , Linfoma Difuso de Grandes Células B/patologia , Proteínas Proto-Oncogênicas c-bcl-2/genética , Idoso
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...