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Author Stefania Pittaluga

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Epstein-Barr Virus-negative Marginal Zone Lymphoma as an Uncommon Form of Monomorphic Posttransplant Lymphoproliferative Disorder.

Pallavi Galera, Richard Flavin, Natasha M Savage, Annapurna Saksena, Shunyou Gong, Huan-You Wang, Niall Swan, Liqiang Xi, Mark Raffeld, Stefania Pittaluga, Elaine S Jaffe,

Monomorphic posttransplant lymphoproliferative disorders have been defined as lymphoid or plasmacytic proliferations that fulfill criteria for one of the B-cell or T/NK-cell neoplasms recognized in immunocompetent hosts in the current WHO Classification. Low-grade B-cell neoplasms have historically been excluded from this category, although rare reports of marginal zone lymphoma (MZL) ... Read more >>

Am. J. Surg. Pathol. (The American journal of surgical pathology)
[2020, 44(10):1340-1352]

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Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.

Matthew K Schindler, Stefania Pittaluga, Yoshimi Enose-Akahata, Helen C Su, V Koneti Rao, Amy Rump, Steven Jacobson, Irene Cortese, Daniel S Reich, Gulbu Uzel,

BACKGROUNDCytotoxic T lymphocyte antigen 4 (CTLA4) is essential for immune homeostasis. Genetic mutations causing haploinsufficiency (CTLA4h) lead to a phenotypically heterogenous, immune-mediated disease that can include neuroinflammation. The neurological manifestations of CTLA4h are poorly characterized.METHODSWe performed an observational natural history study of 50 patients with CTLA4h who were followed at ... Read more >>

J. Clin. Invest. (The Journal of clinical investigation)
[2020, :]

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The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy.

Caoimhe Egan, Justin Lack, Shannon Skarshaug, Thu Anh Pham, Zied Abdullaev, Liqiang Xi, Svetlana Pack, Stefania Pittaluga, Elaine S Jaffe, Mark Raffeld,

Histiocytic sarcoma and tumors with dendritic cell differentiation (HDT) are uncommon neoplasms often with an aggressive clinical course that may occur in association with another hematologic malignancy or mediastinal germ cell tumor (secondary HDT, sHDT). Previous studies have shown mutations in the RAS/MAPK pathway in HDT and have demonstrated a ... Read more >>

Mod. Pathol. (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2020, :]

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A phase II study of ibrutinib and short-course fludarabine in previously untreated patients with chronic lymphocytic leukemia.

Christopher Pleyer, Xin Tian, Shakuntala Rampertaap, Rui Mu, Susan Soto, Jeanine Superata, Erika Gaglione, Clare Sun, Jennifer Lotter, Maryalice Stetler-Stevenson, Constance M Yuan, Irina Maric, Stefania Pittaluga, Sergio Rosenzweig, Thomas Fleisher, Adrian Wiestner, Inhye E Ahn,

Am. J. Hematol. (American journal of hematology)
[2020, :]

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CRISPR/Cas9-mediated introduction of the sodium/iodide symporter gene enables noninvasive in vivo tracking of induced pluripotent stem cell-derived cardiomyocytes.

John W Ostrominski, Ravi Chandra Yada, Noriko Sato, Michael Klein, Ksenia Blinova, Dakshesh Patel, Racquel Valadez, Maryknoll Palisoc, Stefania Pittaluga, Kah-Whye Peng, Hong San, Yongshun Lin, Falguni Basuli, Xiang Zhang, Rolf E Swenson, Mark Haigney, Peter L Choyke, Jizhong Zou, Manfred Boehm, So Gun Hong, Cynthia E Dunbar,

Techniques that enable longitudinal tracking of cell fate after myocardial delivery are imperative for optimizing the efficacy of cell-based cardiac therapies. However, these approaches have been underutilized in preclinical models and clinical trials, and there is considerable demand for site-specific strategies achieving long-term expression of reporter genes compatible with safe ... Read more >>

Stem Cells Transl Med (Stem cells translational medicine)
[2020, :]

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Treatment of HIV-associated Primary CNS Lymphoma with Antiretroviral Therapy, Rituximab, and High-Dose Methotrexate.

Kathryn Lurain, Thomas S Uldrick, Ramya Ramaswami, Mark Polizzotto, Priscila Goncalves, Anaida Widell, Seth M Steinberg, Elaine S Jaffe, Stefania Pittaluga, Hao-Wei Wang, Constance Yuan, Mary Anne Tamula, Staci Martin, Pamela L Wolters, Jomy George, Richard F Little, Robert Yarchoan,

Blood (Blood)
[2020, :]

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Clinical and biological implications of target occupancy in CLL treated with the BTK inhibitor acalabrutinib.

Clare Sun, Pia Nierman, Ellen K Kendall, Jean Cheung, Michael Gulrajani, Sarah E M Herman, Christopher Pleyer, Inhye E Ahn, Maryalice Stetler-Stevenson, Constance M Yuan, Irina Maric, Erika M Gaglione, Hailey M Harris, Stefania Pittaluga, Min Hui Wang, Priti Patel, Mohammed Z H Farooqui, Raquel Izumi, Ahmed Hamdy, Todd Covey, Adrian Wiestner,

Inhibition of the B-cell receptor pathway, and specifically of Bruton tyrosine kinase (BTK), is a leading therapeutic strategy in B-cell malignancies, including chronic lymphocytic leukemia (CLL). Target occupancy is a measure of covalent binding to BTK and has been applied as a pharmacodynamic parameter in clinical studies of BTK inhibitors. ... Read more >>

Blood (Blood)
[2020, 136(1):93-105]

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CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma.

Rena R Xian, Yi Xie, Lisa M Haley, Raluca Yonescu, Aparna Pallavajjala, Stefania Pittaluga, Elaine S Jaffe, Amy S Duffield, Chad M McCall, Shereen M F Gheith, Christopher D Gocke,

The diffuse variant of follicular lymphoma (dFL) is a rare variant of FL lacking t(14;18) that was first described in 2009. In this study, we use a comprehensive approach to define unifying pathologic and genetic features through gold-standard pathologic review, FISH, SNP-microarray, and next-generation sequencing of 16 cases of dFL. ... Read more >>

Blood Cancer J (Blood cancer journal)
[2020, 10(6):69]

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High level MYCN amplification and distinct methylation signature define an aggressive subtype of spinal cord ependymoma.

Mark Raffeld, Zied Abdullaev, Svetlana D Pack, Liqiang Xi, Sushma Nagaraj, Nicole Briceno, Elizabeth Vera, Stefania Pittaluga, Osorio Lopes Abath Neto, Martha Quezado, Kenneth Aldape, Terri S Armstrong, Mark R Gilbert,

We report a novel group of clinically aggressive spinal cord ependymomas characterized by Grade III histology, MYCN amplification, an absence of NF2 alterations or other recurrent pathogenic mutations, and a unique methylation classifier profile. Seven cases were found to have MYCN amplification in the course of routine mutational profiling of ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):101]

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Insights into pathogenesis of fatal COVID-19 pneumonia from histopathology with immunohistochemical and viral RNA studies.

Jennifer L Sauter, Marina K Baine, Kelly J Butnor, Darren J Buonocore, Jason C Chang, Achim A Jungbluth, Matthias J Szabolcs, Sejal Morjaria, Sharon L Mount, Natasha Rekhtman, Elena Selbs, Zong-Mei Sheng, Yongli Xiao, David E Kleiner, Stefania Pittaluga, Jeffery K Taubenberger, Amy V Rapkiewicz, William D Travis,

INTRODUCTION:We describe postmortem pulmonary histopathologic findings of COVID-19 pneumonia in patients with a spectrum of disease course, from rapid demise to prolonged hospitalization. METHODS:Histopathologic findings in postmortem lung tissue from eight patients who died from COVID-19 pneumonia were reviewed. Immunohistochemistry (IHC) and next generation sequencing (NGS) were performed to detect ... Read more >>

Histopathology (Histopathology)
[2020, :]

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Megakaryocytes and platelet-fibrin thrombi characterize multi-organ thrombosis at autopsy in COVID-19: A case series.

Amy V Rapkiewicz, Xingchen Mai, Steven E Carsons, Stefania Pittaluga, David E Kleiner, Jeffrey S Berger, Sarun Thomas, Nicole M Adler, David M Charytan, Billel Gasmi, Judith S Hochman, Harmony R Reynolds,

Background:There is increasing recognition of a prothrombotic state in COVID-19. Post-mortem examination can provide important mechanistic insights. Methods:We present a COVID-19 autopsy series including findings in lungs, heart, kidneys, liver, and bone, from a New York academic medical center. Findings:In seven patients (four female), regardless of anticoagulation status, all autopsies ... Read more >>

EClinicalMedicine (EClinicalMedicine)
[2020, 24:100434]

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CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma

Rena Xian, Yi Xie, Lisa Haley, Raluca Yonescu, Aparna Pallavajjala, Stefania Pittaluga, Elaine Jaffe, Amy Duffield, Chad McCall, Shereen Gheith, Christopher Gocke,

Abstract The diffuse variant of follicular lymphoma (dFL) is a rare variant of FL lacking t(14;18) that was first described in 2009. In this study, we use a comprehensive approach to define unifying pathologic and genetic features through gold-standard pathologic review, FISH, SNP-microarray and next-generation sequencing of 16 cases of ... Read more >>

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Multicenter Study of Risk-Adapted Therapy With Dose-Adjusted EPOCH-R in Adults With Untreated Burkitt Lymphoma.

Mark Roschewski, Kieron Dunleavy, Jeremy S Abramson, Bayard L Powell, Brian K Link, Prapti Patel, Philip J Bierman, Deepa Jagadeesh, Ronald T Mitsuyasu, David Peace, Peter R Watson, Wahid T Hanna, Christopher Melani, Andrea N Lucas, Seth M Steinberg, Stefania Pittaluga, Elaine S Jaffe, Jonathan W Friedberg, Brad S Kahl, Richard F Little, Nancy L Bartlett, Michelle A Fanale, Ariela Noy, Wyndham H Wilson,

PURPOSE:Burkitt lymphoma is an aggressive B-cell lymphoma curable with dose-intensive chemotherapy derived from pediatric leukemia regimens. Treatment is acutely toxic with late sequelae. We hypothesized that dose-adjusted etoposide, doxorubicin, cyclophosphamide, vincristine, prednisone, and rituximab (DA-EPOCH-R) may obviate the need for highly dose-intensive chemotherapy in adults with Burkitt lymphoma. METHODS:We conducted ... Read more >>

J. Clin. Oncol. (Journal of clinical oncology : official journal of the American Society of Clinical Oncology)
[2020, 38(22):2519-2529]

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90Y-Daclizumab (Anti-CD25), High-Dose Carmustine, Etoposide, Cytarabine, and Melphalan Chemotherapy and Autologous Hematopoietic Stem Cell Transplant Yielded Sustained Complete Remissions in 4 Patients with Recurrent Hodgkin's Lymphoma.

Kevin C Conlon, Claude Sportes, Martin W Brechbiel, Daniel H Fowler, Ronald Gress, Milos D Miljkovic, Clara C Chen, Millie A Whatley, Bonita R Bryant, Erin M Corcoran, Karen A Kurdziel, Stefania Pittaluga, Chang H Paik, Jae Ho Lee, Thomas A Fleisher, Jorge A Carrasquillo, Thomas A Waldmann,

Background: Despite advances in therapy of Hodgkin's lymphoma (HL), a proportion of patients will not respond or relapse. The authors had previously identified CD25, IL-2Rα, as a target for systemic radioimmunotherapy of HL since most normal cells do not express CD25, but it is expressed by a minority of Hodgkin/Reed-Sternberg ... Read more >>

Cancer Biother. Radiopharm. (Cancer biotherapy & radiopharmaceuticals)
[2020, 35(4):249-261]

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Expansion of PD1-positive T Cells in Nodal Marginal Zone Lymphoma: A Potential Diagnostic Pitfall.

Caoimhe Egan, Camille Laurent, Julie C Alejo, Stefano Pileri, Elias Campo, Steven H Swerdlow, Miguel Piris, Wing C Chan, Roger Warnke, Randy D Gascoyne, Liqiang Xi, Mark Raffeld, Stefania Pittaluga, Elaine S Jaffe,

The diagnosis of nodal marginal zone lymphoma (NMZL) can be challenging, with the differential diagnosis including other low-grade B-cell lymphomas, reactive hyperplasia, and even some cases of peripheral T-cell lymphoma (PTCL). PTCL may have a perifollicular growth pattern mimicking NMZL. We and others have noted an atypical distribution of T-follicular ... Read more >>

Am. J. Surg. Pathol. (The American journal of surgical pathology)
[2020, 44(5):657-664]

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Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.

Rosita Rigoni, Elena Fontana, Kerry Dobbs, Veronica Marrella, Valentina Taverniti, Virginia Maina, Amanda Facoetti, Giovanna D'Amico, Waleed Al-Herz, Mario Ernesto Cruz-Munoz, Catharina Schuetz, Andrew R Gennery, Elizabeth K Garabedian, Silvia Giliani, Deborah Draper, Ghassan Dbaibo, Raif S Geha, Isabelle Meyts, Thomas Tousseyn, Benedicte Neven, Despina Moshous, Alain Fischer, Ansgar Schulz, Andrea Finocchi, Douglas B Kuhns, Danielle L Fink, Michail S Lionakis, Muthulekha Swamydas, Simone Guglielmetti, Julie Alejo, Ian A Myles, Stefania Pittaluga, Luigi D Notarangelo, Anna Villa, Barbara Cassani,

BACKGROUND:Severe early-onset erythroderma and gut inflammation, with massive tissue infiltration of oligoclonal activated T cells are the hallmark of Omenn syndrome (OS). OBJECTIVE:The impact of altered gut homeostasis in the cutaneous manifestations of OS remains to be clarified. METHODS:We analyzed a cohort of 15 patients with OS and the 129Sv/C57BL/6 ... Read more >>

J. Allergy Clin. Immunol. (The Journal of allergy and clinical immunology)
[2020, :]

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Gene Expression Profiling of Mediastinal Gray Zone Lymphoma and Its Relationship to Primary Mediastinal B-cell Lymphoma and Classical Hodgkin Lymphoma.

Stefania Pittaluga, Alina Nicolae, George W Wright, Christopher Melani, Mark Roschewski, Seth Steinberg, DaWei Huang, Louis M Staudt, Elaine S Jaffe, Wyndham H Wilson,

Mediastinal gray zone lymphoma (MGZL) has immunopathologic features between classical Hodgkin lymphoma (cHL) and primary mediastinal thymic B-cell lymphoma (PMBL), leading to uncertainty regarding its biological relationship to these entities. We performed gene expression profiling from patients with MGZL (20), cHL (18), and PMBL (17) and show MGZL clusters between ... Read more >>

Blood Cancer Discov (Blood cancer discovery)
[2020, 1(2):155-161]

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Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report.

Doyoung Kim, Tetsuro Kobayashi, Benjamin Voisin, Jay-Hyun Jo, Keiko Sakamoto, Seon-Pil Jin, Michael Kelly, Helena B Pasieka, Jessica L Naff, Jon H Meyerle, Ijeoma D Ikpeama, Gary A Fahle, Fred P Davis, Sergio D Rosenzweig, Julie C Alejo, Stefania Pittaluga, Heidi H Kong, Alexandra F Freeman, Keisuke Nagao,

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DiHS/DRESS) is a potentially fatal multiorgan inflammatory disease associated with herpesvirus reactivation and subsequent onset of autoimmune diseases1-4. Pathophysiology remains elusive and therapeutic options are limited. Cases refractory to corticosteroid therapy pose a clinical challenge1,5 and approximately 30% of patients with ... Read more >>

Nat. Med. (Nature medicine)
[2020, 26(2):236-243]

Cited: 2 times

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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Juan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, Juan Zou, Matthew Biancalana, Sally J Deeb, Susan Price, Helen C Su, Giulia Notarangelo, Ping Jiang, Aaron Morawski, Chrysi Kanellopoulou, Kyle Binder, Ratnadeep Mukherjee, James T Anibal, Brian Sellers, Lixin Zheng, Tingyan He, Alex B George, Stefania Pittaluga, Astin Powers, David E Kleiner, Devika Kapuria, Marc Ghany, Sally Hunsberger, Jeffrey I Cohen, Gulbu Uzel, Jenna Bergerson, Lynne Wolfe, Camilo Toro, William Gahl, Les R Folio, Helen Matthews, Pam Angelus, Ivan K Chinn, Jordan S Orange, Claudia M Trujillo-Vargas, Jose Luis Franco, Julio Orrego-Arango, Sebastian Gutiérrez-Hincapié, Niraj Chandrakant Patel, Kimiyo Raymond, Turkan Patiroglu, Ekrem Unal, Musa Karakukcu, Alexandre Gr Day, Pankaj Mehta, Evan Masutani, Suk S De Ravin, Harry L Malech, Grégoire Altan-Bonnet, V Koneti Rao, Matthias Mann, Michael J Lenardo,

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+ T cells ... Read more >>

J. Clin. Invest. (The Journal of clinical investigation)
[2020, 130(1):507-522]

Cited: 1 time

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Epstein-Barr virus NK and T cell lymphoproliferative disease: report of a 2018 international meeting.

Jeffrey I Cohen, Keiji Iwatsuki, Young-Hyeh Ko, Hiroshi Kimura, Irini Manoli, Koichi Ohshima, Stefania Pittaluga, Leticia Quintanilla-Martinez, Elaine S Jaffe,

Epstein-Barr virus (EBV) normally infects B cells, but in some persons the virus infects T or NK cells. Infection of B cells can result in infectious mononucleosis, and the virus is associated with several B cell malignancies including Hodgkin lymphoma, Burkitt lymphoma, and diffuse large B cell lymphoma. Infection of ... Read more >>

Leuk. Lymphoma (Leukemia & lymphoma)
[2020, 61(4):808-819]

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Overexpression of T-bet in HIV infection is associated with accumulation of B cells outside germinal centers and poor affinity maturation.

James W Austin, Clarisa M Buckner, Lela Kardava, Wei Wang, Xiaozhen Zhang, Valerie A Melson, Ryan G Swanson, Andrew J Martins, Julian Q Zhou, Kenneth B Hoehn, J Nicholas Fisk, Yiannis Dimopoulos, Alexander Chassiakos, Sijy O'Dell, Margery G Smelkinson, Catherine A Seamon, Richard W Kwan, Michael C Sneller, Stefania Pittaluga, Nicole A Doria-Rose, Adrian McDermott, Yuxing Li, Tae-Wook Chun, Steven H Kleinstein, John S Tsang, Constantinos Petrovas, Susan Moir,

Nearly all chronic human infections are associated with alterations in the memory B cell (MBC) compartment, including a large expansion of CD19hiT-bethi MBC in the peripheral blood of HIV-infected individuals with chronic viremia. Despite their prevalence, it is unclear how these B cells arise and whether they contribute to the ... Read more >>

Sci Transl Med (Science translational medicine)
[2019, 11(520):]

Cited: 1 time

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Into the gray-zone: update on the diagnosis and classification of a rare lymphoma.

Caoimhe Egan, Stefania Pittaluga,

Expert Rev Hematol (Expert review of hematology)
[2020, 13(1):1-3]

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18F-FDG PET Imaging Features of Patients With Autoimmune Lymphoproliferative Syndrome.

Jorge A Carrasquillo, Clara C Chen, Susan Price, Millie Whatley, Nilo A Avila, Stefania Pittaluga, Elaine S Jaffe, V Koneti Rao,

INTRODUCTION:Autoimmune lymphoproliferative syndrome (ALPS) is a rare immune dysregulatory condition, usually presenting in childhood with massive lymphadenopathy, splenomegaly, and an increased incidence of lymphoma. Methods to differentiate between benign ALPS adenopathy and lymphoma are needed. To this end, we evaluated the usefulness of FDG PET. METHODS:We prospectively evaluated 76 ALPS/ALPS-like ... Read more >>

Clin Nucl Med (Clinical nuclear medicine)
[2019, :]

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18F-FDG PET Imaging Features of Patients With Autoimmune Lymphoproliferative Syndrome.

Jorge A Carrasquillo, Clara C Chen, Susan Price, Millie Whatley, Nilo A Avila, Stefania Pittaluga, Elaine S Jaffe, V Koneti Rao,

INTRODUCTION:Autoimmune lymphoproliferative syndrome (ALPS) is a rare immune dysregulatory condition, usually presenting in childhood with massive lymphadenopathy, splenomegaly, and an increased incidence of lymphoma. Methods to differentiate between benign ALPS adenopathy and lymphoma are needed. To this end, we evaluated the usefulness of FDG PET. METHODS:We prospectively evaluated 76 ALPS/ALPS-like ... Read more >>

Clin Nucl Med (Clinical nuclear medicine)
[2019, 44(12):949-955]

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Novel markers in pediatric-type follicular lymphoma.

Claudio Agostinelli, Ayse U Akarca, Alan Ramsay, Hasan Rizvi, Manuel Rodriguez-Justo, Sabine Pomplun, Ian Proctor, Elena Sabattini, David Linch, Stephen Daw, Stefania Pittaluga, Stefano A Pileri, Elaine S Jaffe, Leticia Quintanilla-Martinez, Teresa Marafioti,

The aim of this study was to review the histopathological, phenotypic, and molecular characteristics of pediatric-type follicular lymphoma (PTFL) and to assess the diagnostic value of novel immunohistochemical markers in distinguishing PTFL from follicular hyperplasia (FH). A total of 13 nodal PTFLs were investigated using immunohistochemistry, fluorescence in situ hybridization ... Read more >>

Virchows Arch. (Virchows Archiv : an international journal of pathology)
[2019, 475(6):771-779]

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