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##  89 results 

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### 2024

Mata D, Lee J, Shanmugam V, Marcus C, Schrock A, Williams E, Ritterhouse L, Hickman R, Janovitz T, Patel N, et al. [Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results](/publications/liquid-biopsy-based-circulating-tumour-ctdna-analysis-spectrum-myeloid-and). Histopathology. 2024. doi:10.1111/his.15168



 

 

Mata D, Lee J, Shanmugam V, Marcus C, Schrock A, Williams E, Ritterhouse L, Hickman R, Janovitz T, Patel N, et al. [Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results](/publications/liquid-biopsy-based-circulating-tumour-ctdna-analysis-spectrum-myeloid-and). Histopathology. 2024. doi:10.1111/his.15168



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 AIMS: Liquid biopsy (LBx)-based next-generation sequencing (NGS) of circulating tumour DNA (ctDNA) can facilitate molecular profiling of haematopoietic neoplasms (HNs), particularly when tissue-based NGS is infeasible.METHODS AND RESULTS: We studied HN... 

 

 

 

Williams E, Vegas I, El-Senduny F, Zhang J, Mata D, Hiemenz M, Hughes S, Sa B, Kraft G, Gorbatov N, et al. [Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma](/publications/pan-cancer-genomic-analysis-axl-mutations-reveals-novel-recurrent-functionally). Am J Surg Pathol. 2024. doi:10.1097/PAS.0000000000002191



 

 

Williams E, Vegas I, El-Senduny F, Zhang J, Mata D, Hiemenz M, Hughes S, Sa B, Kraft G, Gorbatov N, et al. [Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma](/publications/pan-cancer-genomic-analysis-axl-mutations-reveals-novel-recurrent-functionally). Am J Surg Pathol. 2024. doi:10.1097/PAS.0000000000002191



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Myxofibrosarcoma (MFS) is a common soft tissue sarcoma of the elderly that typically shows low tumor mutational burden, with mutations in TP53 and in genes associated with cell cycle checkpoints (RB1, CDKN2A). Unfortunately, no alterations or markers... 

 

 

 

Kerr D, Cloutier J, Margolis M, Mata D, Rodrigues Simoes N, Faquin W, Dias-Santagata D, Chopra S, Charville G, Wangsiricharoen S, et al. [GLI1-Altered Mesenchymal Tumors With ACTB or PTCH1 Fusion: A Molecular and Clinicopathologic Analysis](/publications/gli1-altered-mesenchymal-tumors-actb-or-ptch1-fusion-molecular-and). Mod Pathol. 2024;37(2):100386. doi:10.1016/j.modpat.2023.100386



 

 

Kerr D, Cloutier J, Margolis M, Mata D, Rodrigues Simoes N, Faquin W, Dias-Santagata D, Chopra S, Charville G, Wangsiricharoen S, et al. [GLI1-Altered Mesenchymal Tumors With ACTB or PTCH1 Fusion: A Molecular and Clinicopathologic Analysis](/publications/gli1-altered-mesenchymal-tumors-actb-or-ptch1-fusion-molecular-and). Mod Pathol. 2024;37(2):100386. doi:10.1016/j.modpat.2023.100386



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Mesenchymal tumors with GLI1 fusions or amplifications have recently emerged as a distinctive group of neoplasms. The terms GLI1-altered mesenchymal tumor or GLI1-altered soft tissue tumor serve as a nosological category, although the exact boundaries... 

 

 

 

 



### 2023

Williams E, Ravindranathan A, Gupta R, Stevers N, Suwala A, Hong C, Kim S, Yuan JB, Wu J, Barreto J, et al. [Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs](/publications/novel-sox10-indel-mutations-drive-schwannomas-through-impaired-transactivation). Neuro Oncol. 2023;25(12):2221–2236. doi:10.1093/neuonc/noad121



 

 

Williams E, Ravindranathan A, Gupta R, Stevers N, Suwala A, Hong C, Kim S, Yuan JB, Wu J, Barreto J, et al. [Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs](/publications/novel-sox10-indel-mutations-drive-schwannomas-through-impaired-transactivation). Neuro Oncol. 2023;25(12):2221–2236. doi:10.1093/neuonc/noad121



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 BACKGROUND: Schwannomas are common peripheral nerve sheath tumors that can cause severe morbidity given their stereotypic intracranial and paraspinal locations. Similar to many solid tumors, schwannomas and other nerve sheath tumors are primarily thought... 

 

 

 

Galera P, Dilip D, Derkach A, Chan A, Zhang Y, Persuad S, Mishera T, Liu Y, Famulare C, Gao Q, et al. [Acute myeloid leukemia with mixed phenotype is characterized by stemness transcriptomic signatures and limited lineage plasticity](/publications/acute-myeloid-leukemia-mixed-phenotype-characterized-stemness-transcriptomic). medRxiv. 2023. doi:10.1101/2023.11.01.23297696



 

 

Galera P, Dilip D, Derkach A, Chan A, Zhang Y, Persuad S, Mishera T, Liu Y, Famulare C, Gao Q, et al. [Acute myeloid leukemia with mixed phenotype is characterized by stemness transcriptomic signatures and limited lineage plasticity](/publications/acute-myeloid-leukemia-mixed-phenotype-characterized-stemness-transcriptomic). medRxiv. 2023. doi:10.1101/2023.11.01.23297696



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 UNLABELLED: Mixed phenotype (MP) in acute leukemias poses unique classification and management dilemmas and can be seen in entities other than de novo mixed phenotype acute leukemia (MPAL). Although WHO classification empirically recommends excluding AML... 

 

 

 

Torre M, Bukhari H, Nithianandam V, Zanella C, Mata D, Feany M. [A Drosophila model relevant to chemotherapy-related cognitive impairment](/publications/drosophila-model-relevant-chemotherapy-related-cognitive-impairment). Sci Rep. 2023;13(1):19290. doi:10.1038/s41598-023-46616-9



 

 

Torre M, Bukhari H, Nithianandam V, Zanella C, Mata D, Feany M. [A Drosophila model relevant to chemotherapy-related cognitive impairment](/publications/drosophila-model-relevant-chemotherapy-related-cognitive-impairment). Sci Rep. 2023;13(1):19290. doi:10.1038/s41598-023-46616-9



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Chemotherapy-related cognitive impairment (CRCI) is a common adverse effect of treatment and is characterized by deficits involving multiple cognitive domains including memory. Despite the significant morbidity of CRCI and the expected increase in cancer... 

 

 

 

Yang S-R, Gedvilaite E, Ptashkin R, Chang J, Ziegler J, Mata D, Villafania L, Nafa K, Hechtman J, Benayed R, et al. [Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation](/publications/microsatellite-instability-and-mismatch-repair-deficiency-define-distinct-subset). J Thorac Oncol. 2023. doi:10.1016/j.jtho.2023.10.004



 

 

Yang S-R, Gedvilaite E, Ptashkin R, Chang J, Ziegler J, Mata D, Villafania L, Nafa K, Hechtman J, Benayed R, et al. [Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation](/publications/microsatellite-instability-and-mismatch-repair-deficiency-define-distinct-subset). J Thorac Oncol. 2023. doi:10.1016/j.jtho.2023.10.004



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 INTRODUCTION: Microsatellite instability (MSI) and mismatch repair (MMR) deficiency represent a distinct oncogenic process and predict response to immune checkpoint inhibitors (ICIs). The clinicopathologic features of MSI-high (MSI-H) and MMR deficiency... 

 

 

 

Crowley H, Georgantzoglou N, Tse J, Williams E, Mata D, Martin S, Guitart J, Bridge J, Linos K. [Expanding Our Knowledge of Molecular Pathogenesis in Histiocytoses: Solitary Soft Tissue Histiocytomas in Children With a Novel CLTC::SYK Fusion](/publications/expanding-our-knowledge-molecular-pathogenesis-histiocytoses-solitary-soft-tissue). Am J Surg Pathol. 2023;47(10):1108–1115. doi:10.1097/PAS.0000000000002102



 

 

Crowley H, Georgantzoglou N, Tse J, Williams E, Mata D, Martin S, Guitart J, Bridge J, Linos K. [Expanding Our Knowledge of Molecular Pathogenesis in Histiocytoses: Solitary Soft Tissue Histiocytomas in Children With a Novel CLTC::SYK Fusion](/publications/expanding-our-knowledge-molecular-pathogenesis-histiocytoses-solitary-soft-tissue). Am J Surg Pathol. 2023;47(10):1108–1115. doi:10.1097/PAS.0000000000002102



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 The histiocytoses comprise a histopathologically and clinically diverse group of disorders bearing recurrent genomic alterations, commonly involving the BRAF gene and mitogen-activated protein kinase pathway. In the current study, a novel CLTC :: SYK... 

 

 

 

Torre M, Bukhari H, Nithianandam V, Zanella C, Mata D, Feany M. [A model of chemotherapy-related cognitive impairment](/publications/model-chemotherapy-related-cognitive-impairment). bioRxiv. 2023. doi:10.1101/2023.06.01.543297



 

 

Torre M, Bukhari H, Nithianandam V, Zanella C, Mata D, Feany M. [A model of chemotherapy-related cognitive impairment](/publications/model-chemotherapy-related-cognitive-impairment). bioRxiv. 2023. doi:10.1101/2023.06.01.543297



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Chemotherapy-related cognitive impairment (CRCI) is a common adverse effect of treatment and is characterized by deficits involving multiple cognitive domains including memory. Despite the significant morbidity of CRCI and the expected increase in cancer... 

 

 

 

Grube V, Narla S, Mata D, Hafeez F. [Comparing Follicular Extension Between Low-Grade and High-Grade Dysplastic Nevi](/publications/comparing-follicular-extension-between-low-grade-and-high-grade-dysplastic-nevi). Am J Dermatopathol. 2023;45(6):423–424. doi:10.1097/DAD.0000000000002438



 

 

Grube V, Narla S, Mata D, Hafeez F. [Comparing Follicular Extension Between Low-Grade and High-Grade Dysplastic Nevi](/publications/comparing-follicular-extension-between-low-grade-and-high-grade-dysplastic-nevi). Am J Dermatopathol. 2023;45(6):423–424. doi:10.1097/DAD.0000000000002438



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Dysplastic nevi are an important subset of melanocytic nevi with atypical clinical, histopathologic, as well as genomic features compared with common acquired nevi. Dysplastic nevi are characterized histologically by both cytologic atypia and... 

 

 

 

Velez Torres J, Mata D, Briski L, Green D, Cloutier J, Kerr D, Montgomery E, Rosenberg A. [Sinonasal Myxoma: A Distinct Entity or a Myxoid Variant of Desmoid Fibromatosis?](/publications/sinonasal-myxoma-distinct-entity-or-myxoid-variant-desmoid-fibromatosis) Mod Pathol. 2023:100189. doi:10.1016/j.modpat.2023.100189



 

 

Velez Torres J, Mata D, Briski L, Green D, Cloutier J, Kerr D, Montgomery E, Rosenberg A. [Sinonasal Myxoma: A Distinct Entity or a Myxoid Variant of Desmoid Fibromatosis?](/publications/sinonasal-myxoma-distinct-entity-or-myxoid-variant-desmoid-fibromatosis) Mod Pathol. 2023:100189. doi:10.1016/j.modpat.2023.100189



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Sinonasal myxoma (SNM) is a rare benign mesenchymal tumor that arises in the sinonasal cavity or maxilla and almost exclusively affects young children. Currently, it is considered a specific entity, but its molecular characteristics have not been reported... 

 

 

 

Hiemenz M, Kaur J, Kuang Z, Huang R, Harries L, Metzger D, Schiavone K, Millis S, Lin D, Lechpammer M, et al. [POU2AF3-rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2](/publications/pou2af3-rearranged-sarcomas-novel-tumor-defined-fusions-ewsr1-or-fus-gene). Genes Chromosomes Cancer. 2023. doi:10.1002/gcc.23136



 

 

Hiemenz M, Kaur J, Kuang Z, Huang R, Harries L, Metzger D, Schiavone K, Millis S, Lin D, Lechpammer M, et al. [POU2AF3-rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2](/publications/pou2af3-rearranged-sarcomas-novel-tumor-defined-fusions-ewsr1-or-fus-gene). Genes Chromosomes Cancer. 2023. doi:10.1002/gcc.23136



 

 

 

- add\_circle\_outline do\_not\_disturb\_on Abstract
 
 Gene fusions involving EWSR1 or FUS as the 5' partner have been reported in a diverse array of sarcomas. Here, we characterize the histopathology and genomics of six tumors harboring a gene fusion between EWSR1 or FUS and POU2AF3, an understudied... 

 

 

 

 



 

 

 

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