Publications by authors named "Roberto N Miranda"

The diagnosis of myeloid neoplasms with plasmacytoid dendritic cell (pDC) differentiation can be challenging due to immunophenotypic overlap requiring detailed characterization by flow cytometry and immunohistochemistry. We describe two patients with a history of myeloproliferative neoplasm (MPN) and myelodysplastic/myeloproliferative neoplasm (MDS/MPN) who presented years later with leukocytosis, lymphadenopathy, splenomegaly, and cachexia, with rapid clinical deterioration and death. Lymph node biopsy specimens revealed involvement by myeloid sarcoma with prominent pDC differentiation.

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B-cell and plasma cell proliferations are frequently observed in nodal T follicular helper (nTfh) cell lymphomas and can present a diagnostic challenge. These proliferations can be monotypic or monoclonal and morphologically resemble lymphoma or plasmacytoma, but their clinical behavior is poorly defined. In this study, we reviewed 414 cases of nTfh lymphoma seen over the past decade at our institution.

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  • Fibrin-associated large B-cell lymphoma (FA-LBCL) is a rare lymphoma linked to Epstein-Barr virus (EBV), as demonstrated in a case of a 53-year-old woman with a right ovarian mass.
  • The patient presented with bloating and weight gain, leading to the discovery of a large cystic mass, which upon surgical examination revealed atypical lymphoid cells and was diagnosed as EBV-positive FA-LBCL.
  • After receiving a standard chemotherapy regimen (R-CHOP), the patient showed no signs of disease and is currently in remission, highlighting the importance of recognizing and correctly diagnosing this uncommon lymphoma type.
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  • Cytogenomic characterization is essential for diagnosing and treating acute myeloid leukemia (AML), and this study evaluated the effectiveness of optical genome mapping (OGM) among 159 AML patients.
  • OGM demonstrated over 99% sensitivity in detecting clinically relevant cytogenetic abnormalities, and it revealed additional genetic alterations in nearly half of the patients studied, including new fusion genes and chromosomal rearrangements.
  • The findings suggest that OGM could significantly improve AML classification and risk assessment, influencing treatment decisions and trial eligibility, especially by identifying diagnostic information that traditional methods may miss.
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  • Epstein Barr virus-positive (EBV+) diffuse large B-cell lymphoma (DLBCL), not otherwise specified (NOS) is a serious type of B-cell lymphoma linked to EBV infection, with prognosis improving due to advancements in chemoimmunotherapy since its inclusion in the WHO classification in 2016.
  • Diagnosis relies on detailed pathological evaluation, primarily through detecting EBV-encoded RNA (EBER), with guidelines suggesting that a majority of malignant cells should express EBER for a definitive diagnosis.
  • Risk assessment tools like the International Prognostic Index (IPI) and the Oyama score help determine patient outlook, and management typically follows that of EBV-negative DLBCL, although patients may have a worse prognosis, underscoring
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  • PCSM-LPD is a rare skin-related T-cell disorder, and its treatment often includes various strategies, notably radiotherapy.* -
  • A study of 46 patients revealed that all achieved complete responses, with 94% of those receiving focused radiotherapy responding well, while ultra-low-dose rates also showed high effectiveness.* -
  • Overall, both observation and treatments such as steroids and radiotherapy yield excellent results for PCSM-LPD, with low toxicity reported particularly with ultra-low-dose radiation.*
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  • - The review discusses updates in the fifth edition of the WHO classification of hematolymphoid tumors, focusing on mature T cells, NK cells, and stroma-derived neoplasms, highlighting changes from the previous fourth edition.
  • - Advances in genomic understanding have led to an expanded classification that adopts a hierarchical format and utilizes a multidisciplinary approach involving pathologists, clinicians, and geneticists.
  • - New conditions such as indolent NK-cell lymphoproliferative disorder, Epstein-Barr virus-positive nodal T- and NK-cell lymphoma, and various stroma-derived neoplasms have been introduced, along with practical guidance for applying the updated classification in clinical settings.
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  • Granulomatous Mycosis Fungoides (GMF) is a rare and severe type of mycosis fungoides that features a granulomatous infiltrate and generally has worse outcomes than typical mycosis fungoides.
  • The study investigated immune responses in GMF and Mycosis Fungoides with Large Cell Transformation (MFLCT) by examining various markers in skin biopsies from 49 patients.
  • Findings indicated that patients with GMF showed distinct immune profiles, including increased Tbet, RORγT, and PD-L1, while certain factors like low levels of RORγT and advanced disease stage correlated with poorer survival rates.
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  • Breast implant-associated anaplastic large cell lymphoma is classified as a distinct type of cancer linked to textured breast implants, prompting new challenges for medical professionals handling patients with these devices.
  • While much focus has been on this more serious lymphoma, benign issues related to breast implants also affect 20-30% of patients, necessitating careful assessment.
  • The review discusses a variety of benign complications, detailing their clinical presentations and imaging features, and outlines a structured method for diagnosing and managing breast implant-related specimens.
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  • There is a lack of high-quality evidence regarding breast implant-associated anaplastic large-cell lymphoma (BIA-ALCL), prompting the need for multidisciplinary consensus guidelines for its diagnosis and management, particularly linked to textured implants.
  • An expert consensus conference evaluated existing literature by conducting a thorough search of medical databases, resulting in 145 articles being analyzed for insights on BIA-ALCL, including its incidence, risk factors, and treatment options.
  • Recommendations emphasize the importance of tailored patient surveillance based on implant type, highlighting the necessity of ongoing research for better understanding and prevention of BIA-ALCL in patients.
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  • Flow cytometric immunophenotyping (FCI) is a valuable technique for diagnosing systemic mastocytosis (SM) by analyzing bone marrow samples, although it is not commonly utilized due to technical difficulties and unclear benefits for mast cell assessment.
  • In a study of 88 SM cases, FCI successfully identified immunophenotypic abnormalities in all SM cases, with notable differences in marker expression between SM types—PureSM and SM-AHN—showing distinct profiles.
  • The findings suggest that FCI is a highly effective method for evaluating mast cell characteristics and can enhance diagnostic accuracy, indicating that abnormal FCI results should lead to more thorough histological evaluations.
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  • A study of 13 SOX11+ large or blastoid B-cell neoplasms highlights the challenges in diagnosing these types of cancers, which may be confused with cyclin D1-negative mantle cell lymphoma (MCL) or other aggressive B-cell lymphomas.
  • Fluorescence in situ hybridization showed no CCND1 rearrangements in the cases, with some instances of CCND2 alterations, while gene expression profiling indicated similarities to cyclin D1+ MCL but distinct differences from diffuse large B-cell lymphoma (DLBCL).
  • The findings suggest that SOX11 is a reliable marker for diagnosing cyclin D1-negative blastoid/pleomorphic MCL, advocating for routine testing in B-cell neoplasms
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  • A subset of classic Hodgkin lymphoma shows features that are similar to nodular lymphocyte-predominant Hodgkin lymphoma, which complicates diagnosis but can often be clarified through immunohistochemical tests.! -
  • The study analyzed three cases of T-cell-rich Hodgkin lymphoma where a definitive diagnosis of either NLPHL or classic Hodgkin lymphoma was challenging, despite comprehensive testing.! -
  • The findings revealed that these cases had both B-cell and Hodgkin markers, and the patients responded well to NLPHL-like treatment, achieving long-term remission without B symptoms at diagnosis.!
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  • A study of 55 cases of blastoid high-grade B-cell lymphoma (HGBL), not otherwise specified (NOS), was conducted to understand their characteristics compared to other types of HGBL, including 81 non-blastoid cases and 62 cases with MYC and BCL2 rearrangements (double/triple-hit lymphoma).
  • Patients with blastoid HGBL-NOS had common features with other groups but showed a higher frequency of previous low-grade B-cell lymphoma, bone marrow involvement, and BCL2 rearrangement, with a significant presence of MYC rearrangement linked to more aggressive disease and worse survival rates.
  • The research highlighted that blastoid HGBL-NOS, despite having similarities to other types
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  • The study focuses on the rare occurrence of follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL) exhibiting concurrent rearrangements of the BCL2 and IRF4 genes in adults.
  • Five patients were identified, predominantly elderly with various stages of disease, showcasing diverse histological features, and four patients had a significant presence of both BCL2 and IRF4 rearrangements.
  • The findings suggest that these unique cases should be classified more appropriately as FL and FL/DLBCL rather than as large B-cell lymphoma associated with IRF4 rearrangement, given their distinct clinical and mutational profiles.
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  • The World Health Organization's 5th edition Blue Book on Hematolymphoid Tumors provides important updates on mature T-/NK-cell lymphomas and leukemias.
  • The updates are organized into nine distinct groups that consider factors like cell origin, morphology, clinical scenarios, and localization.
  • This overview was published in the journal Leukemia in June 2022 and is significant for understanding these complex diseases.
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  • The study examines two aggressive variants of mantle cell lymphoma (MCL), namely blastoid (B-MCL) and pleomorphic (P-MCL), using data from 102 untreated patients.
  • B-MCL is characterized by a more homogenous chromatin pattern and smaller, more uniform nuclei compared to P-MCL, which displays greater variation in cell appearance.
  • Significant differences were found in proliferation rates and overall patient survival, with B-MCL showing a higher Ki-67 rate and poorer prognosis; NOTCH1 mutations were also more prevalent in B-MCL, indicating distinct biological profiles for both variants.
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  • - Pathologic staging and margin assessment are crucial for managing patients with breast implant-associated anaplastic large-cell lymphoma (BIA-ALCL).
  • - Diagnosis often involves cytologic exams and advanced techniques like immunohistochemistry, especially since many patients present with fluid buildup (effusion).
  • - Once diagnosed, complete surgical removal (en bloc resection) is advised; if the tumor isn't found, careful sampling of surrounding tissue is necessary. Positive margins or incomplete removal may need additional treatment from a multidisciplinary team.
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Screening implantable biomaterials for antifibrotic properties is constrained by the need for in vivo testing. Here we show that the throughput of in vivo screening can be increased by cellularly barcoding a chemically modified combinatorial library of hydrogel formulations. The method involves the implantation of a mixture of alginate formulations, each barcoded with human umbilical vein endothelial cells from different donors, and the association of the identity and performance of each formulation by genotyping single nucleotide polymorphisms of the cells via next-generation sequencing.

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  • Primary splenic diffuse large B-cell lymphoma (PS-DLBCL) is a rare type of lymphoma that primarily affects the spleen and can sometimes mimic an abscess.
  • A 62-year-old patient showed symptoms such as flank pain and abdominal swelling, leading to the discovery of an 8-cm splenic mass diagnosed through imaging.
  • Microscopic examination of the mass revealed atypical large cells and high proliferation rates, with unusual CD30 positivity, raising questions about its classification compared to classic Hodgkin lymphoma.
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  • Rearrangements involving 3q26.2 are commonly linked to myeloid neoplasms, leading to poor prognoses, but can be easily missed during karyotyping.
  • A study identified 17 acute myeloid leukemia (AML) patients with a specific type of chromosomal rearrangement (pericentric inv(3)), which wasn't detected initially but revealed through advanced FISH analysis.
  • Patients with this pericentric inv(3) displayed symptoms such as cytopenia and specific mutations, and had a median survival of just 14 months, indicating both similarities and unique characteristics compared to other AML types related to classic inv(3).
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  • Granulomatous reactions can mask classic Hodgkin lymphoma (CHL) cells, leading to delays in diagnosis and treatment; this study focused on 20 CHL cases where granulomas made up 50% or more of the specimen.
  • The majority of patients were older than 40, predominantly male, and most presented with swollen lymph nodes, particularly in the neck and supraclavicular areas; many also exhibited advanced disease and associated symptoms.
  • The research revealed that specific cellular markers and pathways, such as PD-L1 expression, may indicate potential treatments like PD-1 blockade therapy for patients with CHL exhibiting granulomatous reactions.
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