Full Text Journal Articles by
Author Valentina Nardi

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Clinical Utility of Anchored Multiplex Solid Fusion Assay for Diagnosis of Bone and Soft Tissue Tumors.

Ivan Chebib, Martin S Taylor, Valentina Nardi, Miguel N Rivera, Jochen K Lennerz, Gregory M Cote, Edwin Choy, Santiago A Lozano Calderón, Kevin A Raskin, Joseph H Schwab, John T Mullen, Yen-Lin E Chen, Yin P Hung, Gunnlaugur P Nielsen, Vikram Deshpande,

Sarcoma diagnosis has become increasingly complex, requiring a combination of morphology, immunohistochemistry, and molecular studies to derive specific diagnoses. We evaluated the role of anchored multiplex polymerase chain reaction-based gene fusion assay in sarcoma diagnostics. Between 2015 and 2018, bone and soft tissue sarcomas with fusion assay results were compared ... Read more >>

Am J Surg Pathol (The American journal of surgical pathology)
[2021, :]

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Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH.

Zehra Ordulu, Stefanie Avril, Valentina Nardi, Dora Dias-Santagata, Esther Oliva,

The molecular knowledge on endometrial stromal neoplasms has been rapidly increasing and is considered complementary to morphologic and immunohistochemical findings for better categorization of these tumors. The most common molecular alteration observed in low-grade endometrial stromal sarcomas is the JAZF1-SUZ12 fusion, whereas, low-grade endometrial stromal sarcoma with sex cord-like differentiation ... Read more >>

Int J Gynecol Pathol (International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists)
[2021, :]

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JAK2 Rearrangements Are a Recurrent Alteration in CD30+ Systemic T-Cell Lymphomas With Anaplastic Morphology.

Megan J Fitzpatrick, Lucas R Massoth, Chelsea Marcus, Jo-Anne Vergilio, Eric Severson, Daniel Duncan, Shakti H Ramkissoon, Robert P Hasserjian, Annette S Kim, Aliyah R Sohani, Erik A Williams, Valentina Nardi,

Peripheral T-cell lymphoma (PTCL) comprises a heterogenous group of rare mature T-cell neoplasms. While some PTCL subtypes are well-characterized by histology, immunophenotype, and recurrent molecular alterations, others remain incompletely defined. In particular, the distinction between CD30+ PTCL, not otherwise specified and anaplastic lymphoma kinase (ALK)-negative anaplastic large cell lymphoma can ... Read more >>

Am J Surg Pathol (The American journal of surgical pathology)
[2021, 45(7):895-904]

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Myeloid/lymphoid neoplasms with FLT3 rearrangement.

Guilin Tang, Wayne Tam, Nicholas J Short, Prithviraj Bose, David Wu, Stephanie N Hurwitz, Adam Bagg, Heesun J Rogers, Eric D Hsi, Andres E Quesada, Wei Wang, Roberto N Miranda, Carlos E Bueso-Ramos, L Jeffrey Medeiros, Valentina Nardi, Robert P Hasserjian, Daniel A Arber, Attilio Orazi, Kathryn Foucar, Sa A Wang,

Myeloid/lymphoid neoplasms (M/LN) with 13q12/FLT3 rearrangement have been suggested as candidates for possible inclusion in the World Health Organization classification group of M/LN with eosinophilia (M/LN-eo). We report 12 patients with confirmed FLT3 rearrangement, six with t(12;13)/ETV6-FLT3; one with ins(13;22)/BCR-FLT3; and five with an unconfirmed partner gene located on chromosome ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2021, :]

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Carotid Plaques From Symptomatic Patients Are Characterized by Local Increase in Xanthine Oxidase Expression.

Morsaleh Ganji, Valentina Nardi, Megha Prasad, Kyra L Jordan, Melanie C Bois, Federico Franchi, Xiang Y Zhu, Hui Tang, Melissa D Young, Lilach O Lerman, Amir Lerman,

<h4>Background and purpose</h4>XO (xanthine oxidase) is a key enzyme of uric acid metabolism and is thought to contribute to oxidative pathways that promote atherosclerotic plaque progression, yet its role in plaque destabilization is not well elucidated. We hypothesized that XO is expressed in carotid plaque from symptomatic patients in association ... Read more >>

Stroke (Stroke)
[2021, :STROKEAHA120032964]

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Mosaicism for Receptor Tyrosine Kinase Activation in a Glioblastoma Involving Both PDGFRA Amplification and NTRK2 Fusion.

Daniel J Shepherd, Tyler E Miller, Deborah A Forst, Pamela Jones, Valentina Nardi, Maria Martinez-Lage, Anat Stemmer-Rachamimov, Ramon G Gonzalez, A John Iafrate, Lauren L Ritterhouse,

Rearrangements involving the neurotrophic receptor tyrosine kinase (NTRK) gene family have been reported in diverse tumor types, and NTRK-targeted therapies have recently been approved. In this article, we report a case of a 26-year-old man with an NTRK2-rearranged isocitrate dehydrogenase-wild-type glioblastoma who showed a robust but temporary response to the ... Read more >>

Oncologist (The oncologist)
[2021, :]

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Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

Lucas R Massoth, Yin P Hung, Judith A Ferry, Robert P Hasserjian, Valentina Nardi, G Petur Nielsen, Sam Sadigh, Vinayak Venkataraman, Martin Selig, Alison M Friedmann, Wesley Samore, Jonathan Keith Killian, Riza Milante, Joseph Giessinger, Kathleen Foley-Peres, Chelsea Marcus, Eric Severson, Daniel Duncan, Smruthy Sivakumar, Jeffrey S Ross, Vikram Desphande, Shakti H Ramkissoon, Jo-Anne Vergilio, Abner Louissaint, Lawrence R Zukerberg, Erik A Williams,

<h4>Background</h4>Histiocytic and dendritic cell neoplasms are a diverse group of tumors arising from monocytic or dendritic cell lineage. Whereas the genomic features for Langerhans cell histiocytosis and Erdheim-Chester disease have been well described, other less common and often aggressive tumors in this broad category remain poorly characterized, and comparison studies ... Read more >>

Oncologist (The oncologist)
[2021, :]

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Plasma cell myeloma: role of histopathology, immunophenotyping, and genetic testing.

Megan J Fitzpatrick, Valentina Nardi, Aliyah R Sohani,

Myeloma is a malignant neoplasm of plasma cells with complex pathogenesis. Diagnosis and risk stratification require the integration of histology, radiology, serology, and genetic data. Bone marrow biopsies are essential for myeloma diagnosis by providing material for histologic and cytologic assessment as well as immunophenotypic and genetic studies. Flow cytometry ... Read more >>

Skeletal Radiol (Skeletal radiology)
[2021, :]

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Identification of EWSR1-NFATC2 fusion in simple bone cysts.

Yin P Hung, Adam S Fisch, Julio A Diaz-Perez, A John Iafrate, Jochen K Lennerz, Valentina Nardi, Miriam A Bredella, Kevin A Raskin, Santiago A Lozano-Calderon, Andrew E Rosenberg, G Petur Nielsen,

<h4>Aims</h4>Simple bone cysts are benign intramedullary tumours primarily involving the long bones in skeletally immature individuals. Several mechanisms have been proposed for their pathogenesis. Although the diagnosis is typically straightforward, the interpretation can be problematic, because of superimposed fracture causing them to resemble aneurysmal bone cysts and other tumours. EWSR1-NFATC2 ... Read more >>

Histopathology (Histopathology)
[2021, 78(6):849-856]

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Simultaneous Identification of Cell of Origin, Translocations, and Hotspot Mutations in Diffuse Large B-Cell Lymphoma Using a Single RNA-Sequencing Assay.

Rory Crotty, Krista Hu, Kristen Stevenson, Maggie Y Pontius, Aliyah R Sohani, Russell J H Ryan, Erroll Rueckert, Heather A Brauer, Briana Hudson, Aaron M Berlin, Matt Rodenbaugh, Abel Licon, Josh Haimes, A John Iafrate, Valentina Nardi, Abner Louissaint,

<h4>Objectives</h4>Diffuse large B-cell lymphoma (DLBCL) is an aggressive non-Hodgkin lymphoma with a heterogenous genetic landscape that can require multiple assays to characterize. We reviewed a 1-step RNA-based assay to determine cell of origin (COO), detect translocations, and identify mutations and to assess the role of the assay in diagnosis.<h4>Methods</h4>Using a ... Read more >>

Am J Clin Pathol (American journal of clinical pathology)
[2021, 155(5):748-754]

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Predictive 'biomarker piggybacking': an examination of reflexive pan-cancer screening with pan-TRK immunohistochemistry.

Lynette M Sholl, Mei Zheng, Valentina Nardi, Jason L Hornick,

<h4>Aims</h4>Tropomyosin receptor kinase (TRK)-targeted therapies represent an important therapeutic option for patients with advanced solid tumours harbouring neurotrophin receptor kinase (NTRK) gene fusions. However, NTRK fusions are rare in common adult carcinomas, and systematic approaches to screening for these alterations are lacking. Pan-TRK immunohistochemistry (IHC) has been proposed as one ... Read more >>

Histopathology (Histopathology)
[2021, :]

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Semiautomated carotid artery plaque composition: are intraplaque CT imaging features associated with cardiovascular risk factors?

John C Benson, Giuseppe Lanzino, Valentina Nardi, Luis Savastano, Amir Lerman, Waleed Brinjikji,

<h4>Background</h4>Little remains known about the connection between cardiovascular (CV) risk factors and carotid plaque morphologies. This study set out to assess for any such associations.<h4>Materials and methods</h4>A retrospective review was completed of consecutive patients that had CTA neck imaging prior to CEA. Body mass index (BMI), tobacco and/or alcohol use, ... Read more >>

Neuroradiology (Neuroradiology)
[2021, :]

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Nanopore Flongle Sequencing as a Rapid, Single-Specimen Clinical Test for Fusion Detection.

William R Jeck, A John Iafrate, Valentina Nardi,

The identification of gene fusions is a cornerstone of diagnosis and treatment decision making for tumors of many forms and primary sites. Diverse molecular approaches are currently used for the molecular diagnosis of fusions, but few permit broad, partner agnostic detection of fusions over multiple potential targets. We previously described ... Read more >>

J Mol Diagn (The Journal of molecular diagnostics : JMD)
[2021, 23(5):630-636]

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Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Madhu M Ouseph, Robert P Hasserjian, Paola Dal Cin, Scott B Lovitch, David P Steensma, Valentina Nardi, Olga K Weinberg,

Loss of the Y chromosome (LOY) is one of the most common somatic genomic alterations in hematopoietic cells in men. However, due to the high prevalence of LOY as the sole cytogenetic finding in the healthy older population, differentiating isolated LOY associated with clonal hematologic processes from aging-associated mosaicism can ... Read more >>

Haematologica (Haematologica)
[2021, 106(2):555-564]

Cited: 2 times

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MarrowQuant Across Aging and Aplasia: A Digital Pathology Workflow for Quantification of Bone Marrow Compartments in Histological Sections.

Josefine Tratwal, David Bekri, Chiheb Boussema, Rita Sarkis, Nicolas Kunz, Tereza Koliqi, Shanti Rojas-Sutterlin, Frédérica Schyrr, Daniel Naveed Tavakol, Vasco Campos, Erica L Scheller, Rossella Sarro, Carmen Bárcena, Bettina Bisig, Valentina Nardi, Laurence de Leval, Olivier Burri, Olaia Naveiras,

The bone marrow (BM) exists heterogeneously as hematopoietic/red or adipocytic/yellow marrow depending on skeletal location, age, and physiological condition. Mouse models and patients undergoing radio/chemotherapy or suffering acute BM failure endure rapid adipocytic conversion of the marrow microenvironment, the so-called "red-to-yellow" transition. Following hematopoietic recovery, such as upon BM transplantation, ... Read more >>

Front Endocrinol (Lausanne) (Frontiers in endocrinology)
[2020, 11:480]

Cited: 1 time

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Seizure burden and neurodevelopmental outcome in newborns with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia: A single center observational study.

Claudia Basti, Eugenia Maranella, Nicola Cimini, Alessia Catalucci, Simona Ciccarelli, Marianna Del Torto, Luisa Di Luca, Cecilia Di Natale, Arianna Mareri, Valentina Nardi, Veronica Pannone, Sandra Di Fabio,

<h4>Objective</h4>To examine the relationship between electrographic seizures and developmental outcome at 18 and 24 months in neonates with moderate and severe hypoxic-ischemic encephalopathy [HIE] treated with therapeutic hypothermia [TH].<h4>Study design</h4>30 term infants with moderate-severe HIE treated with TH were enrolled prospectively from June 2012 to May 2018. All had continuous ... Read more >>

Seizure (Seizure)
[2020, 83:154-159]

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Inflammatory myofibroblastic tumors associated with the placenta: a series of 9 cases.

Sara Makhdoum, Valentina Nardi, Kelly A Devereaux, Christian A Kunder, Gunnlaugur Petur Nielsen, Esther Oliva, Robert H Young, Drucilla J Roberts,

Inflammatory myofibroblastic tumors (IMTs) of the uterus are often associated with pregnancy and are delivered with the placenta. We describe the clinical, pathologic, and molecular findings in nine cases of placenta-associated IMT (PaIMT). All the lesions were incidentally discovered at delivery or on placental pathological examination. The maternal age ranged ... Read more >>

Hum Pathol (Human pathology)
[2020, 106:62-73]

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Clinical sensitivity and interpretation of PCR and serological COVID-19 diagnostics for patients presenting to the hospital.

Tyler E Miller, Wilfredo F Garcia Beltran, Adam Z Bard, Tasos Gogakos, Melis N Anahtar, Michael Gerino Astudillo, Diane Yang, Julia Thierauf, Adam S Fisch, Grace K Mahowald, Megan J Fitzpatrick, Valentina Nardi, Jared Feldman, Blake M Hauser, Timothy M Caradonna, Hetal D Marble, Lauren L Ritterhouse, Sara E Turbett, Julie Batten, Nicholas Zeke Georgantas, Galit Alter, Aaron G Schmidt, Jason B Harris, Jeffrey A Gelfand, Mark C Poznansky, Bradley E Bernstein, David N Louis, Anand Dighe, Richelle C Charles, Edward T Ryan, John A Branda, Virginia M Pierce, Mandakolathur R Murali, A John Iafrate, Eric S Rosenberg, Jochen K Lennerz,

The diagnosis of COVID-19 requires integration of clinical and laboratory data. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) diagnostic assays play a central role in diagnosis and have fixed technical performance metrics. Interpretation becomes challenging because the clinical sensitivity changes as the virus clears and the immune response emerges. Our ... Read more >>

FASEB J (FASEB journal : official publication of the Federation of American Societies for Experimental Biology)
[2020, 34(10):13877-13884]

Cited: 22 times

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Long: molecular tracking of CML with bilineal inv(16) myeloid and del(9) lymphoid blast crisis and durable response to CD19-directed CAR-T therapy.

Vinayak Venkataraman, Keagan S Casey, Maristela Onozato, Paola Dal Cin, Valentina Nardi, Philip C Amrein, Meghan K Bergeron, Andrew M Brunner, Amir T Fathi, Julia E Foster, Jenna Moran, Timothy A Graubert, Hanno Hock, Chrisa Hunnewell, Matthew J Frigault, Steven McAfee, Gabriela S Hobbs,

Leukemia (Leukemia)
[2020, 34(11):3050-3054]

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Dedifferentiated Chordoma: Clinicopathologic and Molecular Characteristics With Integrative Analysis.

Yin P Hung, Julio A Diaz-Perez, Gregory M Cote, Johan Wejde, Joseph H Schwab, Valentina Nardi, Ivan A Chebib, Vikram Deshpande, Martin K Selig, Miriam A Bredella, Andrew E Rosenberg, G Petur Nielsen,

Dedifferentiated chordoma is a rare chordoma subtype characterized by a high-grade sarcoma juxtaposed to conventional chordoma. We identified a series of dedifferentiated chordomas, reviewed clinicopathologic features, performed next-generation sequencing in select cases, and analyzed all related English-language publications. Our series included 7 men and 3 women (age 15 to 80 y ... Read more >>

Am J Surg Pathol (The American journal of surgical pathology)
[2020, 44(9):1213-1223]

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Clinical Sensitivity and Interpretation of PCR and Serological COVID-19 Diagnostics for Patients Presenting to the Hospital

Tyler Miller, Wilfredo Garcia Beltran, Adam Bard, Tasos Gogakos, Melis Anahtar, Michael Gerino Astudillo, Diane Yang, Julia Thierauf, Adam Fisch, Grace Mahowald, Megan Fitzpatrick, Valentina Nardi, Jared Feldman, Blake Hauser, Timothy Caradonna, Hetal Marble, Lauren Ritterhouse, Sara Turbett, Julie Batten, Nicholas Zeke Georgantas, Galit Alter, Aaron Schmidt, Jason Harris, Jeffrey Gelfand, Mark Poznansky, Bradley Bernstein, David Louis, Anand Dighe, Richelle Charles, Edward Ryan, John Branda, Virginia Pierce, Mandakolathur Murali, John Iafrate, Eric Rosenberg, Jochen Lennerz,

<h4>Introduction</h4> The diagnosis of COVID-19 requires integration of clinical and laboratory data. SARS-CoV-2 diagnostic assays play a central role in diagnosis and have fixed technical performance metrics. Interpretation becomes challenging because the clinical sensitivity changes as the virus clears and the immune response emerges. Our goal was to examine the ... Read more >>

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Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms.

Harrison K Tsai, Diane G Brackett, David Szeto, Ryan Frazier, Allison MacLeay, Phani Davineni, Danielle K Manning, Elizabeth Garcia, Neal I Lindeman, Long P Le, Jochen K Lennerz, Christopher J Gibson, R Coleman Lindsley, Annette S Kim, Valentina Nardi,

Assessment of internal tandem duplications in FLT3 (FLT3-ITDs) and their allelic ratio (AR) is recommended by clinical guidelines for diagnostic workup of acute myeloid leukemia and traditionally performed through capillary electrophoresis (CE). Although significant progress has been made integrating FLT3-ITD detection within contemporary next-generation sequencing (NGS) panels, AR estimation is ... Read more >>

J Mol Diagn (The Journal of molecular diagnostics : JMD)
[2020, 22(9):1162-1178]

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Incremental Prognostic Impact of Peripheral Microvascular Endothelial Dysfunction on the Development of Ischemic Stroke.

Takumi Toya, Jaskanwal D Sara, Ali Ahmad, Valentina Nardi, Riad Taher, Lilach O Lerman, Amir Lerman,

Background Peripheral microvascular endothelial dysfunction (PMED) has been linked to an increased risk of cardiovascular events, but there is a lack of information characterizing the predictive value of PMED for future risk of ischemic stroke (IS). Methods and Results This retrospective observational cohort study enrolled 637 patients who underwent non-invasive ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2020, 9(9):e015703]

Cited: 2 times

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Targeted FGFR inhibition results in a durable remission in an FGFR1-driven myeloid neoplasm with eosinophilia.

Monica Kasbekar, Valentina Nardi, Paola Dal Cin, Andrew M Brunner, Meghan Burke, Yi-Bin Chen, Christine Connolly, Amir T Fathi, Julia Foster, Molly Macrae, Steven L McAfee, Kristin McGregor, Rupa Narayan, Aura Y Ramos, Tina T Som, Meghan Vartanian, Robb S Friedman, Karim A Benhadji, Gabriela S Hobbs,

Blood Adv (Blood advances)
[2020, 4(13):3136-3140]

Cited: 2 times

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Optimization of 2-(1H-imidazo-2-yl)piperazines series of Trypanosoma brucei growth inhibitors as potential treatment for the second stage of HAT.

Alina Ciammaichella, Federica Ferrigno, Andreina Basta, Melania D'Amico, Ilaria Biancofiore, Valentina Nardi, Simona Ponzi, Rita Graziani, Nadia Gennari, Maria Vittoria Orsale, Ivan Fini, Giacomo Paonessa, Vincenzo Summa, Steven Harper, Jesus M Ontoria,

A previous publication from our laboratory reported the identification of a new class of 2-(1H-imidazo-2-yl)piperazines as potent T. brucei growth inhibitors as potential treatment for Human African Trypanosomiasis (HAT). This work describes the structure-activity relationship (SAR) around the hit compound 1, which led to the identification of the optimized compound ... Read more >>

Bioorg Med Chem Lett (Bioorganic & medicinal chemistry letters)
[2020, 30(12):127207]

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