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Author Erik A Williams

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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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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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Prevalence of High-Risk Nonvaccine Human Papillomavirus Types in Advanced Squamous Cell Carcinoma Among Individuals of African vs Non-African Ancestry.

Erik A Williams, Justin Newberg, Kevin Jon Williams, Meagan Montesion, Brian M Alexander, Douglas I Lin, Julia A Elvin,

JAMA Netw Open (JAMA network open)
[2021, 4(5):e216481]

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Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Erik A Williams, Sandro Santagata, Hiroaki Wakimoto, Ganesh M Shankar, Fred G Barker, Radwa Sharaf, Abhinav Reddy, Phoebe Spear, Brian M Alexander, Jeffrey S Ross, Priscilla K Brastianos, Daniel P Cahill, Shakti H Ramkissoon, Tareq A Juratli,

<h4>Background</h4>Genomic studies of high-grade/progressive meningiomas have reported a heterogeneous mutation spectrum, identifying few recurrently mutated genes. Most studies have been underpowered to detect genomic subclasses of aggressive meningiomas due to relatively small number of available samples. Here, we present a genomic survey of one of the largest multi-institutional cohorts of ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):171]

Cited: 2 times

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CDKN2C-Null Leiomyosarcoma: A Novel, Genomically Distinct Class of TP53/RB1-Wild-Type Tumor With Frequent CIC Genomic Alterations and 1p/19q-Codeletion.

Erik A Williams, Radwa Sharaf, Brennan Decker, Adrienne J Werth, Helen Toma, Meagan Montesion, Ethan S Sokol, Dean C Pavlick, Nikunj Shah, Kevin Jon Williams, Jeffrey M Venstrom, Brian M Alexander, Jeffrey S Ross, Lee A Albacker, Douglas I Lin, Shakti H Ramkissoon, Julia A Elvin,

<h4>Purpose</h4>Leiomyosarcoma (LMS) harbors frequent mutations in <i>TP53</i> and <i>RB1</i> but few actionable genomic alterations. Here, we searched for recurrent actionable genomic alterations in LMS that occur in the absence of common untreatable oncogenic drivers.<h4>Methods</h4>Tissues from 276,645 unique advanced cancers, including 2,570 uterine and soft tissue LMS, were sequenced by hybrid-capture-based ... Read more >>

JCO Precis Oncol (JCO precision oncology)
[2020, 4:]

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CYLD mutation characterizes a subset of HPV-positive head and neck squamous cell carcinomas with distinctive genomics and frequent cylindroma-like histologic features.

Erik A Williams, Meagan Montesion, Brian M Alexander, Shakti H Ramkissoon, Julia A Elvin, Jeffrey S Ross, Kevin Jon Williams, Krzysztof Glomski, Jacob R Bledsoe, Julie Y Tse, Mark C Mochel,

Mutations in the tumor suppressor CYLD, known to be causative of cylindromas, were recently described in a subset of high-risk (hr) HPV-positive head and neck squamous cell carcinomas (HNSCC). Pathologic and genetic characterization of these CYLD-mutant carcinomas, however, remains limited. Here, we investigated whether CYLD mutations characterize a histopathologically and ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2021, 34(2):358-370]

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Clinical, histopathologic, and molecular profiles of PRKAR1A-inactivated melanocytic neoplasms.

Erik A Williams, Nikunj Shah, Natalie Danziger, Meagan Montesion, Ethan S Sokol, Dean C Pavlick, Vincent A Miller, Jeffrey S Ross, Julia A Elvin, Julie Y Tse,

J Am Acad Dermatol (Journal of the American Academy of Dermatology)
[2021, 84(4):1069-1071]

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Pan-sarcoma genomic analysis of KMT2A rearrangements reveals distinct subtypes defined by YAP1-KMT2A-YAP1 and VIM-KMT2A fusions.

Lucas R Massoth, Yin P Hung, Valentina Nardi, G Petur Nielsen, Robert P Hasserjian, Abner Louissaint, Adam S Fisch, Vikram Deshpande, Lawrence R Zukerberg, Jochen K Lennerz, Martin Selig, Krzysztof Glomski, Parth J Patel, Kevin Jon Williams, Ethan S Sokol, Brian M Alexander, Jo-Anne Vergilio, Jeffrey S Ross, Dean C Pavlick, Ivan Chebib, Erik A Williams,

Sarcomas are driven by diverse pathogenic mechanisms, including gene rearrangements in a subset of cases. Rare soft tissue sarcomas containing KMT2A fusions have recently been reported, characterized by a predilection for young adults, sclerosing epithelioid fibrosarcoma-like morphology, and an often aggressive course. Nonetheless, clinicopathologic and molecular descriptions of KMT2A-rearranged sarcomas ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2020, 33(11):2307-2317]

Cited: 3 times

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Vulvar Squamous Cell Carcinoma: Comprehensive Genomic Profiling of HPV+ Versus HPV- Forms Reveals Distinct Sets of Potentially Actionable Molecular Targets.

Erik A Williams, Adrienne J Werth, Radwa Sharaf, Meagan Montesion, Ethan S Sokol, Dean C Pavlick, Molly McLaughlin-Drubin, Rachel Erlich, Helen Toma, Kevin Jon Williams, Jeff M Venstrom, Brian M Alexander, Nikunj Shah, Natalie Danziger, Amanda C Hemmerich, Eric A Severson, Jonathan Keith Killian, Douglas I Lin, Jeffrey S Ross, Julie Y Tse, Shakti H Ramkissoon, Mark C Mochel, Julia A Elvin,

<h4>Purpose</h4>Vulvar squamous cell carcinoma (vSCC) encompasses two predominant variants: one associated with detectable high-risk strains of human papillomavirus (hrHPV) and a second form often occurring in the context of chronic dermatitis in postmenopausal women. Genomic assessment of a large-scale cohort of patients with aggressive vSCC may identify distinct mutational signatures.<h4>Materials ... Read more >>

JCO Precis Oncol (JCO precision oncology)
[2020, 4:]

Cited: 2 times

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Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.

Erik A Williams, Meagan Montesion, Nikunj Shah, Radwa Sharaf, Dean C Pavlick, Ethan S Sokol, Brian Alexander, Jeff Venstrom, Julia A Elvin, Jeffrey S Ross, Kevin Jon Williams, Julie Y Tse, Mark C Mochel,

While the genomics of BRAF, NRAS, and other key genes influencing MAP kinase (MAPK) activity have been thoroughly characterized in melanoma, mutations in MAP2K1 (MEK1) have received significantly less attention and have consisted almost entirely of missense mutations considered secondary oncogenic drivers of melanoma. Here, we investigated melanomas with in-frame ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2020, 33(12):2397-2406]

Cited: 1 time

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CYLD-mutant cylindroma-like basaloid carcinoma of the anus: a genetically and morphologically distinct class of HPV-related anal carcinoma.

Erik A Williams, Meagan Montesion, Radwa Sharaf, James Corines, Parth J Patel, Brendan J Gillespie, Dean C Pavlick, Ethan S Sokol, Brian M Alexander, Kevin Jon Williams, Julia A Elvin, Jeffrey S Ross, Shakti H Ramkissoon, Amanda C Hemmerich, Julie Y Tse, Mark C Mochel,

Rare reports of anal carcinoma (AC) describe histologic resemblance to cutaneous cylindroma, but mutations in the tumor suppressor CYLD, the gene responsible for familial and sporadic cylindromas, have not been systematically investigated in AC. Here, we investigate CYLD-mutant AC, focusing on molecular correlates of distinct histopathology. Comprehensive genomic profiling (hybrid-capture-based ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2020, 33(12):2614-2625]

Cited: 3 times

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Melanomas with activating RAF1 fusions: clinical, histopathologic, and molecular profiles.

Erik A Williams, Nikunj Shah, Meagan Montesion, Radwa Sharaf, Dean C Pavlick, Ethan S Sokol, Brian M Alexander, Jeff M Venstrom, Julia A Elvin, Jeffrey S Ross, Julie Y Tse, Mark C Mochel,

A subset of melanomas is characterized by fusions involving genes that encode kinases. Melanomas with RAF1 fusions have been rarely reported, mostly in clinical literature. To investigate this distinctive group of melanomas, we searched for melanomas with activating structural variants in RAF1, utilizing our case archive of clinical samples with ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2020, 33(8):1466-1474]

Cited: 1 time

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Frequent inactivating mutations of the PBAF complex gene PBRM1 in meningioma with papillary features.

Erik A Williams, Hiroaki Wakimoto, Ganesh M Shankar, Fred G Barker, Priscilla K Brastianos, Sandro Santagata, Ethan S Sokol, Dean C Pavlick, Nikunj Shah, Abhinav Reddy, Jeffrey M Venstrom, Brian M Alexander, Jeffrey S Ross, Daniel P Cahill, Shakti H Ramkissoon, Tareq A Juratli,

Acta Neuropathol (Acta neuropathologica)
[2020, 140(1):89-93]

Cited: 2 times

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Pan-Cancer Landscape Analysis Reveals Recurrent KMT2A-MAML2 Gene Fusion in Aggressive Histologic Subtypes of Thymoma.

Lucas R Massoth, Yin P Hung, Dora Dias-Santagata, Maristela Onozato, Nikunj Shah, Eric Severson, Daniel Duncan, Brendan J Gillespie, Nathan F Williams, Jeffrey S Ross, Jo-Anne Vergilio, Shannon K Harkins, Krzysztof Glomski, Valentina Nardi, Lawrence R Zukerberg, Robert P Hasserjian, Abner Louissaint, Erik A Williams,

<h4>Purpose</h4>Thymomas are epithelial neoplasms that represent the most common thymic tumors in adults. These tumors have been shown to harbor a relatively low mutational burden. As a result, there is a lack of genetic alterations that may be used prognostically or targeted therapeutically for this disease. Here, we describe a ... Read more >>

JCO Precis Oncol (JCO precision oncology)
[2020, 4:]

Cited: 3 times

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Accelerated progression of IDH mutant glioma after first recurrence.

Julie J Miller, Franziska Loebel, Tareq A Juratli, Shilpa S Tummala, Erik A Williams, Tracy T Batchelor, Isabel Arrillaga-Romany, Daniel P Cahill,

<h4>Background</h4>Isocitrate dehydrogenase (IDH) mutant gliomas are a distinct subtype, reflected in the World Health Organization (WHO) 2016 revised diagnostic criteria. To inform IDH-targeting trial design, we sought to characterize outcomes exclusively within IDH mutant gliomas.<h4>Methods</h4>We retrospectively analyzed 275 IDH mutant glioma patients treated at our institution. Progression was determined using ... Read more >>

Neuro Oncol (Neuro-oncology)
[2019, 21(5):669-677]

Cited: 7 times

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PI3K/AKT/mTOR Pathway Alterations Promote Malignant Progression and Xenograft Formation in Oligodendroglial Tumors.

Kensuke Tateishi, Taishi Nakamura, Tareq A Juratli, Erik A Williams, Yuko Matsushita, Shigeta Miyake, Mayuko Nishi, Julie J Miller, Shilpa S Tummala, Alexandria L Fink, Nina Lelic, Mara V A Koerner, Yohei Miyake, Jo Sasame, Kenji Fujimoto, Takahiro Tanaka, Ryogo Minamimoto, Shigeo Matsunaga, Shigeo Mukaihara, Takashi Shuto, Hiroki Taguchi, Naoko Udaka, Hidetoshi Murata, Akihide Ryo, Shoji Yamanaka, William T Curry, Dora Dias-Santagata, Tetsuya Yamamoto, Koichi Ichimura, Tracy T Batchelor, Andrew S Chi, A John Iafrate, Hiroaki Wakimoto, Daniel P Cahill,

<h4>Purpose</h4>Oligodendroglioma has a relatively favorable prognosis, however, often undergoes malignant progression. We hypothesized that preclinical models of oligodendroglioma could facilitate identification of therapeutic targets in progressive oligodendroglioma. We established multiple oligodendroglioma xenografts to determine if the PI3K/AKT/mTOR signaling pathway drives tumor progression.<h4>Experimental design</h4>Two anatomically distinct tumor samples from a patient ... Read more >>

Clin Cancer Res (Clinical cancer research : an official journal of the American Association for Cancer Research)
[2019, 25(14):4375-4387]

Cited: 5 times

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TERT promoter wild-type glioblastomas show distinct clinical features and frequent PI3K pathway mutations.

Erik A Williams, Julie J Miller, Shilpa S Tummala, Tristan Penson, A John Iafrate, Tareq A Juratli, Daniel P Cahill,

TERT promoter (TERTp) mutations are found in the majority of World Health Organization (WHO) grade IV adult IDH wild-type glioblastoma (IDH-wt GBM). Here, we characterized the subset of IDH-wt GBMs that do not have TERTp mutations. In a cohort of 121 adult grade IV gliomas, we identified 109 IDH-wt GBMs, ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2018, 6(1):106]

Cited: 5 times

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Factors associated with false-negative pathologic diagnosis of calciphylaxis.

Erik A Williams, Andrea P Moy, Nicole A Cipriani, Sagar U Nigwekar, Rosalynn M Nazarian,

<h4>Background</h4>Calciphylaxis is a rare, painful, and debilitating disorder of vascular calcification and skin necrosis that typically affects patients with advanced kidney disease. During our routine pathology practice, we noted several missed diagnoses on calciphylaxis consultation cases originating from outside institutions and sought to explore factors associated with false-negative pathologic diagnosis ... Read more >>

J Cutan Pathol (Journal of cutaneous pathology)
[2019, 46(1):16-25]

Cited: 0 times

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Malignant Melanoma Metastatic to Oligodendroglioma: Case Report and Literature Review of Tumor-to-Tumor Metastasis to Gliomas.

Alexandra Giantini Larsen, Benjamin L Grannan, Christine K Lee, Matthew J Koch, Erik A Williams, Matthew P Frosch, Daniel P Cahill,

Tumor-to-tumor metastasis is an uncommon phenomenon, and a metastasis from an extracranial donor tumor to an intracranial recipient tumor is extremely rare. In particular, there are only 14 cases reported in the literature that describe a tumor-to-tumor metastasis involving a glioma. We present a rare case of an 83-year-old man ... Read more >>

J Neuropathol Exp Neurol (Journal of neuropathology and experimental neurology)
[2018, 77(7):549-554]

Cited: 0 times

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DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome.

Tareq A Juratli, Devin McCabe, Naema Nayyar, Erik A Williams, Ian M Silverman, Shilpa S Tummala, Alexandria L Fink, Aymen Baig, Maria Martinez-Lage, Martin K Selig, Ivanna V Bihun, Ganesh M Shankar, Tristan Penson, Matthew Lastrapes, Dirk Daubner, Matthias Meinhardt, Silke Hennig, Alexander B Kaplan, Shingo Fujio, Benjamin M Kuter, Mia S Bertalan, Julie J Miller, Julie M Batten, Heather A Ely, Jason Christiansen, Gustavo B Baretton, Anat O Stemmer-Rachamimov, Sandro Santagata, Miguel N Rivera, Fred G Barker, Gabriele Schackert, Hiroaki Wakimoto, A John Iafrate, Scott L Carter, Daniel P Cahill, Priscilla K Brastianos,

Progressive meningiomas that have failed surgery and radiation have a poor prognosis and no standard therapy. While meningiomas are more common in females overall, progressive meningiomas are enriched in males. We performed a comprehensive molecular characterization of 169 meningiomas from 53 patients with progressive/high-grade tumors, including matched primary and recurrent ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2018, 136(5):779-792]

Cited: 17 times

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Intratumoral heterogeneity and TERT promoter mutations in progressive/higher-grade meningiomas.

Tareq A Juratli, Christian Thiede, Mara V A Koerner, Shilpa S Tummala, Dirk Daubner, Ganesh M Shankar, Erik A Williams, Maria Martinez-Lage, Silke Soucek, Katja Robel, Tristan Penson, Mechthild Krause, Steffen Appold, Matthias Meinhardt, Thomas Pinzer, Julie J Miller, Dietmar Krex, Heather A Ely, Ian M Silverman, Jason Christiansen, Gabriele Schackert, Hiroaki Wakimoto, Matthias Kirsch, Priscilla K Brastianos, Daniel P Cahill,

<h4>Background</h4>Recent studies have reported mutations in the telomerase reverse transcriptase promoter (<i>TERT</i>p) in meningiomas. We sought to determine the frequency, clonality and clinical significance of telomere gene alterations in a cohort of patients with progressive/higher-grade meningiomas.<h4>Methods</h4>We characterized 64 temporally- and regionally-distinct specimens from 26 WHO grade III meningioma patients. On ... Read more >>

Oncotarget (Oncotarget)
[2017, 8(65):109228-109237]

Cited: 19 times

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Case 31-2017. A 19-Month-Old Girl with Failure to Thrive.

Marjorie A Curran, Vandana L Madhavan, Paul A Caruso, David H Ebb, Erik A Williams,

N Engl J Med (The New England journal of medicine)
[2017, 377(15):1468-1477]

Cited: 1 time

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Absence of Alzheimer Disease Neuropathologic Changes in Eyes of Subjects With Alzheimer Disease.

Erik A Williams, Declan McGuone, Matthew P Frosch, Bradley T Hyman, Nora Laver, Anat Stemmer-Rachamimov,

Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of β-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain. These pathologic findings are identified postmortem. Various visual deficits in AD have been reported and there have been conflicting ... Read more >>

J Neuropathol Exp Neurol (Journal of neuropathology and experimental neurology)
[2017, 76(5):376-383]

Cited: 16 times

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The Diagnostic Use of Immunohistochemical Surrogates for Signature Molecular Genetic Alterations in Gliomas.

Jantima Tanboon, Erik A Williams, David N Louis,

A number of key mutations that affect treatment and prognosis have been identified in human gliomas. Two major ways to identify these mutations in a tumor sample are direct interrogation of the mutated DNA itself and immunohistochemistry to assess the effects of the mutated genes on proteins. Immunohistochemistry is an ... Read more >>

J Neuropathol Exp Neurol (Journal of neuropathology and experimental neurology)
[2016, 75(1):4-18]

Cited: 27 times

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Histiocytic sarcoma of the cavernous sinus: case report and literature review.

Ching-Jen Chen, Erik A Williams, Taylor E McAneney, Brian J Williams, James W Mandell, Mark E Shaffrey,

Histiocytic sarcoma is a rare malignant neoplasm of hematopoietic origin composed of cells showing morphologic and immunophenotypic evidence of histiocytic differentiation. We describe the 2nd case of primary histiocytic sarcoma of the cavernous sinus/Meckel's cave, and the 8th case involving the CNS. A 61-year-old Caucasian man presented with numbness on ... Read more >>

Brain Tumor Pathol (Brain tumor pathology)
[2015, 32(1):66-71]

Cited: 6 times

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