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Author Joanne Xiu

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Relationship between MLH1, PMS2, MSH2 and MSH6 gene-specific alterations and tumor mutational burden in 1057 microsatellite instability-high solid tumors.

Mohamed E Salem, J Nicholas Bodor, Alberto Puccini, Joanne Xiu, Richard M Goldberg, Axel Grothey, W Michael Korn, Anthony F Shields, William M Worrilow, Edward S Kim, Heinz-Josef Lenz, John L Marshall, Michael J Hall,

Microsatellite instability-high (MSI-H) and tumor mutational burden (TMB) are predictive biomarkers for immune-checkpoint inhibitors (ICIs). Still, the relationship between the underlying cause(s) of MSI and TMB in tumors remains poorly defined. We investigated associations of TMB to mismatch repair (MMR) protein expression patterns by immunohistochemistry (IHC) and MMR mutations in ... Read more >>

Int. J. Cancer (International journal of cancer)
[2020, :]

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Molecular profile of BRCA-mutated biliary tract cancers.

Gilbert Spizzo, Alberto Puccini, Joanne Xiu, Richard M Goldberg, Axel Grothey, Anthony F Shields, Sukeshi Patel Arora, Moh'd Khushmann, Mohamed E Salem, Francesca Battaglin, Yasmine Baca, Wafik S El-Deiry, Philip A Philip, Madiha Nassem, Michael Hall, John L Marshall, Florian Kocher, Arno Amann, Dominik Wolf, W Michael Korn, Heinz Lenz, Andreas Seeber,

INTRODUCTION:Prognosis of biliary tract cancers (BTC) remains dismal and novel treatment strategies are needed to improve survival. BRCA mutations are known to occur in BTC but their frequency and the molecular landscape in which they are observed in distinct sites of BTC remain unknown. MATERIAL AND METHODS:Tumour samples from 1292 ... Read more >>

ESMO Open (ESMO open)
[2020, 5(3):]

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WRN-Mutated Colorectal Cancer Is Characterized by a Distinct Genetic Phenotype.

Kai Zimmer, Alberto Puccini, Joanne Xiu, Yasmine Baca, Gilbert Spizzo, Heinz-Josef Lenz, Francesca Battaglin, Richard M Goldberg, Axel Grothey, Anthony F Shields, Mohamed E Salem, John L Marshall, W Michael Korn, Dominik Wolf, Florian Kocher, Andreas Seeber,

Werner syndrome gene (WRN) contributes to DNA repair. In cancer, WRN mutations (WRN-mut) lead to genomic instability. Thus, WRN is a promising target in cancers with microsatellite instability (MSI). We assessed this study to investigate the molecular profile of WRN-mut in colorectal cancer (CRC). Tumor samples were analyzed using next-generation ... Read more >>

Cancers (Basel) (Cancers)
[2020, 12(5):]

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Frequent Mutations of POT1 Distinguish Pulmonary Sarcomatoid Carcinoma From Other Lung Cancer Histologies.

Erica Shen, Joanne Xiu, Rex Bentley, Giselle Y López, Kyle M Walsh,

INTRODUCTION:Pulmonary sarcomatoid carcinoma (PSC) is a rare subtype of non-small-cell lung cancer (NSCLC) harboring mutations in many canonical NSCLC-driver genes (eg, TP53, KRAS, MET). Protection of telomeres 1 (POT1) mutations are observed in angiosarcoma and chronic lymphocytic leukemia, but their frequency in other solid tumors, including NSCLC subtypes, has not ... Read more >>

Clin Lung Cancer (Clinical lung cancer)
[2020, :]

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Comprehensive tumor profiling reveals unique molecular differences between peritoneal metastases and primary colorectal adenocarcinoma.

Matthew K Stein, Forrest W Williard, Joanne Xiu, Miriam W Tsao, Michael G Martin, Benjamin W Deschner, Paxton V Dickson, Evan S Glazer, Danny Yakoub, David Shibata, Axel F Grothey, Philip A Philip, Jimmy J Hwang, Anthony F Shields, John L Marshall, W Michael Korn, Heinz-Josef Lenz, Jeremiah L Deneve,

BACKGROUND AND OBJECTIVES:Peritoneal metastases (PM) from primary colorectal cancer (pCRC) are associated with poor outcomes; however, molecular differences are not well defined. METHODS:We compared unpaired tumor profiles of patients with pCRC and PM from Caris Life Sciences. Testing included next-generation sequencing of 592 genes, microsatellite instability (MSI) and tumor mutational ... Read more >>

J Surg Oncol (Journal of surgical oncology)
[2020, 121(8):1320-1328]

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Molecular Profiling of the Metaplastic Spindle Cell Carcinoma of the Breast Reveals Potentially Targetable Biomarkers.

Semir Vranic, Phillip Stafford, Juan Palazzo, Faruk Skenderi, Jeffrey Swensen, Joanne Xiu, David Spetzler, Zoran Gatalica,

INTRODUCTION:Spindle cell carcinoma is a rare subtype of metaplastic breast cancer, with triple-negative (TNBC: estrogen receptor-negative/progesterone receptor-negative/human epidermal growth factor receptor 2-negative) phenotype. It is associated with a marked resistance to conventional chemotherapy and has an overall poor outcome. MATERIALS AND METHODS:Twenty-three pure spindle cell carcinomas of the breast (18 ... Read more >>

Clin. Breast Cancer (Clinical breast cancer)
[2020, :]

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Primary CNS lymphoma commonly expresses immune response biomarkers.

Alexander Ou, Ashley Sumrall, Surasak Phuphanich, David Spetzler, Zoran Gatalica, Joanne Xiu, Sharon Michelhaugh, Andrew Brenner, Manjari Pandey, Santosh Kesari, W Michael Korn, Sandeep Mittal, Jason Westin, Amy B Heimberger,

Background:Primary central nervous system lymphoma (PCNSL) is rare and there is limited genomic and immunological information available. Incidental clinical and radiographic responses have been reported in PCNSL patients treated with immune checkpoint inhibitors. Materials and Methods:To genetically characterize and ascertain if the majority of PCNSL patients may potentially benefit from ... Read more >>

Neurooncol Adv (Neuro-oncology advances)
[2020, 2(1):vdaa018]

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POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Erica Shen, Joanne Xiu, Giselle Y Lopez, Rex Bentley, Ali Jalali, Amy B Heimberger, Matthew N Bainbridge, Melissa L Bondy, Kyle M Walsh,

BACKGROUND:The shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with diverse malignancies, including glioma, angiosarcoma, colorectal cancer and melanoma. Although somatic POT1 mutations promote telomere elongation ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, :]

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Immune checkpoint expression, microsatellite instability, and mutational burden: Identifying immune biomarker phenotypes in uterine cancer.

Nathaniel L Jones, Joanne Xiu, Rodney P Rocconi, Thomas J Herzog, Ira S Winer,

OBJECTIVES:Increasing grade of endometrioid endometrial cancer (EEC) is associated with aggressive behavior and poor prognosis. The traditional classification system is limited in its ability to guide treatment planning and prognostication. We identify distinct immune biomarker phenotypes using known markers of immunogenicity to identify patients who may benefit from immune therapy ... Read more >>

Gynecol. Oncol. (Gynecologic oncology)
[2020, 156(2):393-399]

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Molecular profiling of biliary cancers reveals distinct molecular alterations and potential therapeutic targets.

Benjamin A Weinberg, Joanne Xiu, Michael R Lindberg, Anthony F Shields, Jimmy J Hwang, Kelsey Poorman, Mohamed E Salem, Michael J Pishvaian, Randall F Holcombe, John L Marshall, Michael A Morse,

Background:Biliary tract cancers (BTCs) are a heterogeneous group of aggressive, rare malignancies with limited standard chemotherapeutic options for advanced disease. Recent studies have demonstrated potential novel biliary cancer targets and a possible role for immunotherapy in the treatment of patients with this disease. Intrahepatic cholangiocarcinoma (IHCC), extrahepatic cholangiocarcinoma (EHCC), and ... Read more >>

J Gastrointest Oncol (Journal of gastrointestinal oncology)
[2019, 10(4):652-662]

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Racial Disparities in the Molecular Landscape of Cancer.

Elisabeth I Heath, Filipa Lynce, Joanne Xiu, Angela Ellerbrock, Sandeep K Reddy, Elias Obeid, Stephen V Liu, Aliccia Bollig-Fischer, Duska Separovic, Ari Vanderwalde,

African Americans (AA) have the highest incidence and mortality of any racial/ethnic group in the US for most cancer types. Heterogeneity in the molecular biology of cancer, as a contributing factor to this disparity, is poorly understood. To address this gap in knowledge, we explored the molecular landscape of colorectal ... Read more >>

Anticancer Res. (Anticancer research)
[2018, 38(4):2235-2240]

Cited: 3 times

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Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma.

Cynthia Kassab, Daniel Zamler, Carlos Kamiya-Matsuoka, Zoran Gatalica, Joanne Xiu, David Spetzler, Amy B Heimberger,

Craniopharyngioma is a rare tumor in adults. Although histologically benign, it can be locally aggressive and may require additional therapeutic modalities to surgical resection. Analyses including next generation sequencing, chromogenic and in situ hybridization, immunohistochemistry, and gene amplification were used to profile craniopharyngiomas (n=6) for frequently altered therapeutic targets. Four ... Read more >>

Clin Oncol Res (Clinical oncology and research)
[2019, 2(3):2-8]

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Molecular Profiling of Appendiceal Adenocarcinoma and Comparison with Right-sided and Left-sided Colorectal Cancer.

Ryuma Tokunaga, Joanne Xiu, Curtis Johnston, Richard M Goldberg, Philip A Philip, Andreas Seeber, Madiha Naseem, Jae Ho Lo, Hiroyuki Arai, Francesca Battaglin, Alberto Puccini, Martin D Berger, Shivani Soni, Wu Zhang, Jimmy J Hwang, Anthony F Shields, John L Marshall, Hideo Baba, W Michael Korn, Heinz-Josef Lenz,

PURPOSE:The natural history and prognosis of appendiceal adenocarcinomas differ from those of adenocarcinomas arising in other large bowel sites. We aimed to compare the molecular profiles exhibited by appendiceal adenocarcinomas and colorectal cancers, or between the histopathologic subtypes of appendiceal adenocarcinoma. EXPERIMENTAL DESIGN:A total of 183 samples from appendiceal adenocarcinoma ... Read more >>

Clin. Cancer Res. (Clinical cancer research : an official journal of the American Association for Cancer Research)
[2019, 25(10):3096-3103]

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Theranostic molecular profiling of pleomorphic ductal carcinoma of the breast.

Semir Vranic, Juan Palazzo, Jeffrey Swensen, Joanne Xiu, Elena Florento, Zoran Gatalica,

Breast J (The breast journal)
[2019, 25(1):175-176]

Cited: 1 time

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NUTM1-rearranged neoplasia: a multi-institution experience yields novel fusion partners and expands the histologic spectrum.

Todd M Stevens, Diana Morlote, Joanne Xiu, Jeffrey Swensen, Margaret Brandwein-Weber, Markku M Miettinen, Zoran Gatalica, Julia A Bridge,

Poorly differentiated neoplasms lacking characteristic histopathologic features represent a significant challenge to the pathologist for diagnostic classification. Classically, NUT carcinoma (previously NUT midline carcinoma) is poorly differentiated but typically exhibits variable degrees of squamous differentiation. Diagnosis is genetically defined by NUTM1 rearrangement, usually with BRD4 as the fusion partner. In ... Read more >>

Mod. Pathol. (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2019, 32(6):764-773]

Cited: 1 time

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RARE-05. TUMOR PROFILING REVEALS EPITHELIAL-TO-MESENCHYMAL TRANSITION (EMT) AND ENHANCED IMMUNE SUPPRESSION IN GLIOSARCOMAS RELATIVE TO GLIOBLASTOMA.

Christopher Dardis, Surasak Phuphanich, Nader Sanai, Joanne Xiu, Sandeep Mittal, Sharon Michelhaugh, Deepa Subramaniam, Majari Pandey, Santosh Kesari, Amy Heimberger, Zoran Gatalica, W Michael Korn, Ashley Sumrall,

AbstractBACKGROUNDGliosarcoma (GS) accounts for approximately 2% of WHO grade 4 gliomas and have a worse prognosis relative to glioblastoma (GBM). Epithelial-to-mesenchymal transition (EMT) is well recognized in a variety of tumors of ectodermal lineage. MATERIALS ANDMETHODSPatients diagnosed with either a GS (n = 44) or GBM (n = 1449) underwent ... Read more >>

Neuro-oncology (Neuro-oncology)
[2018, 20(Suppl 6):vi237-vi237]

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Profiles of brain metastases: Prioritization of therapeutic targets.

Sherise D Ferguson, Siyuan Zheng, Joanne Xiu, Shouhao Zhou, Mustafa Khasraw, Priscilla K Brastianos, Santosh Kesari, Jethro Hu, Jeremy Rudnick, Michael E Salacz, David Piccioni, Suyun Huang, Michael A Davies, Isabella C Glitza, John V Heymach, Jianjun Zhang, Nuhad K Ibrahim, John F DeGroot, Joseph McCarty, Barbara J O'Brien, Raymond Sawaya, Roeland G W Verhaak, Sandeep K Reddy, Waldemar Priebe, Zoran Gatalica, David Spetzler, Amy B Heimberger,

We sought to compare the tumor profiles of brain metastases from common cancers with those of primary tumors and extracranial metastases in order to identify potential targets and prioritize rational treatment strategies. Tumor samples were collected from both the primary and metastatic sites of nonsmall cell lung cancer, breast cancer ... Read more >>

Int. J. Cancer (International journal of cancer)
[2018, 143(11):3019-3026]

Cited: 3 times

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RARE-22. FREQUENT HIGH TUMOR MUTATIONAL BURDEN (TMB) AND PD-L1 EXPRESSION IN PRIMARY CNS LYMPHOMA (PCNSL).

Ashley Sumrall, Surasak Phuphanich, David Spetzler, Zoran Gatalica, Joanne Xiu, Aaron Provenzano, Andrew J. Brenner, Deepa Subramaniam, Majari Pandey, Amy Heimberger, Santosh Kesari, W Michael Korn, Sandeep Mittal,

AbstractBACKGROUNDPD-1 and PD-L1 expression has not been well-described in PCNSL. In one report of 20 PCNSL tumors, PD-1 and PD-L1 expression on tumor cells (TC), tumor-infiltrating lymphocytes (TIL), or tumor-associated macrophages (TAM) was seen in 90% (Clin Neuropathol 2014;PMID:24359606). Another report of 4 patients with relapsed PCNSL showed clinical and ... Read more >>

Neuro-oncology (Neuro-oncology)
[2018, 20(Suppl 6):vi240-vi241]

Cited: 0 times

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Potential Novel Therapy Targets in Neuroendocrine Carcinomas of the Breast.

Semir Vranic, Juan Palazzo, Souzan Sanati, Elena Florento, Elma Contreras, Joanne Xiu, Jeffrey Swensen, Zoran Gatalica,

INTRODUCTION:Neuroendocrine carcinoma (NEC) of the breast is a rare, special type of breast cancer, reportedly constituting 2% to 5% of all breast cancers. Although breast NEC does not have a specific targeted therapy, several new targeted therapies based on specific biomarkers were recently investigated in the NEC of lung and ... Read more >>

Clin. Breast Cancer (Clinical breast cancer)
[2019, 19(2):131-136]

Cited: 1 time

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Molecular characterization of cancers with NTRK gene fusions.

Zoran Gatalica, Joanne Xiu, Jeffrey Swensen, Semir Vranic,

Targeted inhibitors of neurotropic tyrosine kinases are highly effective in selected patients with gene fusions involving NTRK1, NTRK2, or NTRK3. These fusions are consistently detected in rare cancer types (e.g., secretory breast carcinoma and congenital infantile fibrosarcoma), but the occurrence of NTRK fusions in common cancers and their relationship to ... Read more >>

Mod. Pathol. (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2019, 32(1):147-153]

Cited: 15 times

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Prevalence of Homologous Recombination-Related Gene Mutations Across Multiple Cancer Types.

Arielle L Heeke, Michael J Pishvaian, Filipa Lynce, Joanne Xiu, Jonathan R Brody, Wang-Juh Chen, Tabari M Baker, John L Marshall, Claudine Isaacs,

Purpose:The prevalence of homologous recombination DNA damage repair (HR-DDR) deficiencies among all tumor lineages is not well characterized. Therapy directed toward homologous recombination DDR deficiency (HRD) is now approved in ovarian and breast cancer, and there may be additional opportunities for benefit for patients with other cancers. Comprehensive evaluations for ... Read more >>

JCO Precis Oncol (JCO precision oncology)
[2018, 2018:]

Cited: 8 times

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Multiplatform profiling of meningioma provides molecular insight and prioritization of drug targets for rational clinical trial design.

Richard G Everson, Yuuri Hashimoto, Jacob L Freeman, Tiffany R Hodges, Jason Huse, Shouhao Zhou, Joanne Xiu, David Spetzler, Nader Sanai, Lyndon Kim, Santosh Kesari, Andrew Brenner, Franco De Monte, Amy Heimberger, Shaan M Raza,

INTRODUCTION:Surgery and radiation therapy are the standard treatment options for meningiomas, but these treatments are not always feasible. Expression profiling was performed to determine the presence of therapeutic actionable biomarkers for prioritization and selection of agents. METHODS:Meningiomas (n = 115) were profiled using a variety of strategies including next-generation sequencing (592-gene panel: ... Read more >>

J. Neurooncol. (Journal of neuro-oncology)
[2018, 139(2):469-478]

Cited: 1 time

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Targetable Gene Fusions Associate With the IDH Wild-Type Astrocytic Lineage in Adult Gliomas.

Sherise D Ferguson, Shouhao Zhou, Jason T Huse, John F de Groot, Joanne Xiu, Deepa S Subramaniam, Shwetal Mehta, Zoran Gatalica, Jeffrey Swensen, Nader Sanai, David Spetzler, Amy B Heimberger,

Gene fusions involving oncogenes have been reported in gliomas and may serve as novel therapeutic targets. Using RNA-sequencing, we interrogated a large cohort of gliomas to assess for the incidence of targetable genetic fusions. Gliomas (n = 390) were profiled using the ArcherDx FusionPlex Assay. Fifty-two gene targets were analyzed and fusions ... Read more >>

J. Neuropathol. Exp. Neurol. (Journal of neuropathology and experimental neurology)
[2018, 77(6):437-442]

Cited: 3 times

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Rethinking medulloblastoma from a targeted therapeutics perspective.

Yuuri Hashimoto, Marta Penas-Prado, Shouhao Zhou, Jun Wei, Soumen Khatua, Tiffany R Hodges, Nader Sanai, Joanne Xiu, Zoran Gatalica, Lyndon Kim, Santosh Kesari, Ganesh Rao, David Spetzler, Amy Heimberger,

INTRODUCTION:Medulloblastoma is an aggressive but potentially curable central nervous system tumor that remains a treatment challenge. Analysis of therapeutic targets can provide opportunities for the selection of agents. METHODS:Using multiplatform analysis, 36 medulloblastomas were extensively profiled from 2009 to 2015. Immunohistochemistry, next generation sequencing, chromogenic in situ hybridization, and fluorescence ... Read more >>

J. Neurooncol. (Journal of neuro-oncology)
[2018, 139(3):713-720]

Cited: 2 times

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Comparative Molecular Analyses of Esophageal Squamous Cell Carcinoma, Esophageal Adenocarcinoma, and Gastric Adenocarcinoma.

Mohamed E Salem, Alberto Puccini, Joanne Xiu, Derek Raghavan, Heinz-Josef Lenz, W Michael Korn, Anthony F Shields, Philip A Philip, John L Marshall, Richard M Goldberg,

BACKGROUND:Gastroesophageal cancers are often grouped together even though cancers that originate in the esophagus often exhibit different histological features, geographical distribution, risk factors, and clinical characteristics than those originating in the stomach. Herein, we aimed to compare the molecular characteristics of three different gastroesophageal cancer types: esophageal squamous cell carcinoma ... Read more >>

Oncologist (The oncologist)
[2018, 23(11):1319-1327]

Cited: 6 times

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