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  1. Article ; Online: Challenging our understanding of B-cell lymphomagenesis and risk: Paediatric high-grade B-cell lymphoma, not otherwise specified with a DDX3X::MLLT10 fusion and an IGH deletion.

    Hare, Lucy / Trotman, Jamie / Tarpey, Patrick / Hook, Elizabeth / Burke, G A Amos

    Pediatric blood & cancer

    2023  Volume 71, Issue 3, Page(s) e30810

    Abstract: We report a unique case of high-grade B-cell lymphoma, not otherwise specified in a 5-year-old child. Whole-genome sequencing revealed a DDX3X::MLLT10 fusion, usually seen in T-cell acute lymphoblastic leukaemia (ALL). This suggests the novel idea that ... ...

    Abstract We report a unique case of high-grade B-cell lymphoma, not otherwise specified in a 5-year-old child. Whole-genome sequencing revealed a DDX3X::MLLT10 fusion, usually seen in T-cell acute lymphoblastic leukaemia (ALL). This suggests the novel idea that MLLT10 fusions are capable of driving B-cell malignancies. An IGH deletion usually only seen in adults was also found. These unique genetic findings provide novel insights into B-cell lymphomagenesis. The child remains in remission 7 year post chemotherapy, which demonstrates that novel complex molecular findings do not always denote high-risk disease.
    MeSH term(s) Adult ; Humans ; Child ; Child, Preschool ; Lymphoma, B-Cell/genetics ; Lymphoma, B-Cell/pathology ; B-Lymphocytes ; Transcription Factors/genetics ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; DEAD-box RNA Helicases/genetics
    Chemical Substances Transcription Factors ; DDX3X protein, human (EC 3.6.1.-) ; DEAD-box RNA Helicases (EC 3.6.4.13) ; MLLT10 protein, human
    Language English
    Publishing date 2023-12-16
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30810
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    Zs.A 1131: Show issues Location:
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  2. Article ; Online: Identification of an Activating PDGFRA Deletion in a Novel Sinonasal Soft Tissue Neoplasm.

    Watkins, James A / Hatcher, Helen / Malhotra, Shalini / Amen, Furrat / Bruty, Jonathan / Trotman, Jamie / Tarpey, Patrick / Tadross, John A

    Head and neck pathology

    2023  Volume 17, Issue 2, Page(s) 576–580

    Abstract: Background: Spindle cell tumours in the sinonasal area are diagnostically challenging. We identified a neoplasm that defied histopathological classification using current criteria.: Methods: The case was subjected to histopathological, ... ...

    Abstract Background: Spindle cell tumours in the sinonasal area are diagnostically challenging. We identified a neoplasm that defied histopathological classification using current criteria.
    Methods: The case was subjected to histopathological, immunohistochemical and molecular analysis using a large small variant DNA panel.
    Results: The tumour comprised cytologically bland epithelioid spindle cells with a rich vasculature, which lack expression of actin and other smooth muscle markers, CD34 and beta-catenin. An activating insertion/deletion in exon 12 of the PDGFRA gene was detected. This alteration has previously been described in gastrointestinal stromal tumours and inflammatory fibroid polyps of the GI tract, but the site, histological, and immunophenotypic features in this tumour are distinct.
    Conclusion: We describe a novel sinonasal spindle cell tumour characterised by an activating insertion/deletion in exon 12 of PDGFRA. The diagnosis of PDGFRA-activated sinonasal spindle cell tumour should be considered in difficult to classify mesenchymal lesions at this site.
    MeSH term(s) Humans ; Mutation ; Proto-Oncogene Proteins c-kit/genetics ; Gastrointestinal Stromal Tumors/genetics ; Gastrointestinal Stromal Tumors/pathology ; Receptor Protein-Tyrosine Kinases/genetics ; Soft Tissue Neoplasms ; Head and Neck Neoplasms
    Chemical Substances Proto-Oncogene Proteins c-kit (EC 2.7.10.1) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1)
    Language English
    Publishing date 2023-02-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2407834-7
    ISSN 1936-0568 ; 1936-055X
    ISSN (online) 1936-0568
    ISSN 1936-055X
    DOI 10.1007/s12105-023-01526-0
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  3. Article ; Online: Wilms Tumor With Raised Serum Alpha-Fetoprotein: Highlighting the Need for Novel Circulating Biomarkers.

    Green, Rebecca / Ahmed, Adeeb / Fleming, Ben / Long, Anna-May / Behjati, Sam / Trotman, Jamie / Tarpey, Patrick / Nicholson, James C / Coleman, Nicholas / Elizabeth Hook, C / Murray, Matthew J

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

    2023  , Page(s) 10935266231213467

    Abstract: Wilms tumor (WT) is the commonest cause of renal cancer in children. In Europe, a diagnosis is made for most cases on typical clinical and radiological findings, prior to pre-operative chemotherapy. Here, we describe a case of a young boy presenting with ...

    Abstract Wilms tumor (WT) is the commonest cause of renal cancer in children. In Europe, a diagnosis is made for most cases on typical clinical and radiological findings, prior to pre-operative chemotherapy. Here, we describe a case of a young boy presenting with a large abdominal tumor, associated with raised serum alpha-fetoprotein (AFP) levels at diagnosis. Given the atypical features present, a biopsy was taken, and histology was consistent with WT, showing triphasic WT, with epithelial, stromal, and blastemal elements present, and positive WT1 and CD56 immunohistochemical staining. During pre-operative chemotherapy, serial serum AFP measurements showed further increases, despite a radiological response, before a subsequent fall to normal following nephrectomy. The resection specimen was comprised of ~55% and ~45% stromal and epithelial elements, respectively, with no anaplasia, but immunohistochemistry using AFP staining revealed positive mucinous intestinal epithelium, consistent with the serum AFP observations. The lack of correlation between tumor response and serum AFP levels in this case highlights a more general clinical unmet need to identify WT-specific circulating tumor markers.
    Language English
    Publishing date 2023-12-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1463498-3
    ISSN 1615-5742 ; 1093-5266
    ISSN (online) 1615-5742
    ISSN 1093-5266
    DOI 10.1177/10935266231213467
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    Zs.A 5063: Show issues Location:
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  4. Article ; Online: What is next generation sequencing?

    Behjati, Sam / Tarpey, Patrick S

    Archives of disease in childhood. Education and practice edition

    2013  Volume 98, Issue 6, Page(s) 236–238

    Abstract: Next generation sequencing (NGS), massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has revolutionised genomic research. Using NGS an entire human genome can be sequenced within a single day. In ... ...

    Abstract Next generation sequencing (NGS), massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has revolutionised genomic research. Using NGS an entire human genome can be sequenced within a single day. In contrast, the previous Sanger sequencing technology, used to decipher the human genome, required over a decade to deliver the final draft. Although in genome research NGS has mostly superseded conventional Sanger sequencing, it has not yet translated into routine clinical practice. The aim of this article is to review the potential applications of NGS in paediatrics.
    MeSH term(s) Genome, Human ; Genomics/instrumentation ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Mutation ; Pediatrics ; Sequence Analysis, DNA/methods
    Language English
    Publishing date 2013-08-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2148818-6
    ISSN 1743-0593 ; 1743-0585
    ISSN (online) 1743-0593
    ISSN 1743-0585
    DOI 10.1136/archdischild-2013-304340
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    Um IV Zs.106 -E.P.Ed.-: Show issues Location:
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  5. Article ; Online: Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy.

    Chadda, Karan R / Solano-Páez, Palma / Khan, Sara / Llempén-López, Mercedes / Phyu, Poe / Horan, Gail / Trotman, Jamie / Tarpey, Patrick / Erker, Craig / Lindsay, Holly / Addy, Dilys / Jacques, Thomas S / Allinson, Kieren / Pizer, Barry / Huang, Annie / Murray, Matthew J

    Neuro-oncology advances

    2023  Volume 5, Issue 1, Page(s) vdad052

    Language English
    Publishing date 2023-04-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 3009682-0
    ISSN 2632-2498 ; 2632-2498
    ISSN (online) 2632-2498
    ISSN 2632-2498
    DOI 10.1093/noajnl/vdad052
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  6. Article ; Online: Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma.

    De Noon, Solange / Piggott, Robert / Trotman, Jamie / Tadross, John A / Fittall, Matthew / Hughes, Debbie / Ye, Hongtao / Munasinghe, Emani / Murray, Matthew / Tirabosco, Roberto / Amary, Fernanda / Coleman, Nicholas / Watkins, James / Hubank, Michael / Tarpey, Patrick / Behjati, Sam / Flanagan, Adrienne M

    The Journal of pathology

    2023  Volume 259, Issue 2, Page(s) 119–124

    Abstract: The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic fibroblastoma is characterised by overexpression of FOSL1. However, previous studies using ... ...

    Abstract The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic fibroblastoma is characterised by overexpression of FOSL1. However, previous studies using cytogenetic and molecular techniques did not identify an underlying somatic change involving the FOSL1 gene to explain this finding. Prompted by an unusual index case, we report the discovery of a novel FOSL1 rearrangement in desmoplastic fibroblastoma using whole-genome and targeted RNA sequencing. We investigated 15 desmoplastic fibroblastomas and 15 fibromas of tendon sheath using immunohistochemistry, in situ hybridisation and targeted RNA sequencing. Rearrangements in FOSL1 and FOS were identified in 10/15 and 2/15 desmoplastic fibroblastomas respectively, which mirrors the pattern of FOS rearrangements observed in benign bone and vascular tumours. Fibroma of tendon sheath, which shares histological features with desmoplastic fibroblastoma, harboured USP6 rearrangements in 9/15 cases and did not demonstrate rearrangements in any of the four FOS genes. The overall concordance between FOSL1 immunohistochemistry and RNA sequencing results was 90%. These findings illustrate that FOSL1 and FOS rearrangements are a recurrent event in desmoplastic fibroblastoma, establishing this finding as a useful diagnostic adjunct and expanding the spectrum of tumours driven by FOS gene family alterations. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
    MeSH term(s) Humans ; Fibroma, Desmoplastic/diagnosis ; Fibroma, Desmoplastic/genetics ; Fibroma, Desmoplastic/pathology ; Fibroma/genetics ; Gene Rearrangement ; In Situ Hybridization ; Soft Tissue Neoplasms/genetics ; Soft Tissue Neoplasms/pathology ; Ubiquitin Thiolesterase/genetics
    Chemical Substances USP6 protein, human (EC 3.4.19.12) ; Ubiquitin Thiolesterase (EC 3.4.19.12)
    Language English
    Publishing date 2023-01-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3119-7
    ISSN 1096-9896 ; 0022-3417
    ISSN (online) 1096-9896
    ISSN 0022-3417
    DOI 10.1002/path.6038
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    Ud II Zs.12: Show issues Location:
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  7. Article ; Online: The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.

    Trotman, Jamie / Armstrong, Ruth / Firth, Helen / Trayers, Claire / Watkins, James / Allinson, Kieren / Jacques, Thomas S / Nicholson, James C / Burke, G A Amos / Behjati, Sam / Murray, Matthew J / Hook, Catherine E / Tarpey, Patrick

    British journal of cancer

    2022  Volume 127, Issue 1, Page(s) 137–144

    Abstract: Background: Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 100,000 genomes (100 K) project. ... ...

    Abstract Background: Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all children with cancer. This approach was piloted during the 100,000 genomes (100 K) project. Here we share the experience of the East of England Genomic Medicine Centre (East-GMC), reporting the feasibility and clinical utility of centralised WGS for individual children locally.
    Methods: Non-consecutive children with solid tumours were recruited into the pilot 100 K project at our Genomic Medicine Centre. Variant catalogues were returned for local scrutiny and appraisal at dedicated genomic tumour advisory boards with an emphasis on a detailed exploration of potential clinical value.
    Results: Thirty-six children, representing one-sixth of the national 100 K cohort, were recruited through our Genomic Medicine Centre. The diagnoses encompassed 23 different solid tumour types and WGS provided clinical utility, beyond standard-of-care assays, by refining (2/36) or changing (4/36) diagnoses, providing prognostic information (8/36), defining pathogenic germline mutations (1/36) or revealing novel therapeutic opportunities (8/36).
    Conclusion: Our findings demonstrate the feasibility and clinical value of centralised WGS for children with cancer. WGS offered additional clinical value, especially in diagnostic terms. However, our experience highlights the need for local expertise in scrutinising and clinically interpreting centrally derived variant calls for individual children.
    MeSH term(s) Child ; Feasibility Studies ; Germ-Line Mutation ; Humans ; Neoplasms/genetics ; State Medicine ; Whole Genome Sequencing
    Language English
    Publishing date 2022-04-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80075-2
    ISSN 1532-1827 ; 0007-0920
    ISSN (online) 1532-1827
    ISSN 0007-0920
    DOI 10.1038/s41416-022-01788-5
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    Uh III Zs.142: Show issues Location:
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  8. Article: The use of temozolomide in paediatric metastatic phaeochromocytoma/paraganglioma: A case report and literature review.

    Urquhart, Calum / Fleming, Ben / Harper, Ines / Aloj, Luigi / Armstrong, Ruth / Hook, Liz / Long, Anna-May / Jackson, Claire / Gallagher, Ferdia A / McLean, Mary A / Tarpey, Patrick / Kosmoliaptsis, Vasilis / Nicholson, James / Hendriks, A Emile J / Casey, Ruth T

    Frontiers in endocrinology

    2022  Volume 13, Page(s) 1066208

    Abstract: There is increasing evidence to support the use of temozolomide therapy for the treatment of metastatic phaeochromocytoma/paraganglioma (PPGL) in adults, particularly in patients ... ...

    Abstract There is increasing evidence to support the use of temozolomide therapy for the treatment of metastatic phaeochromocytoma/paraganglioma (PPGL) in adults, particularly in patients with
    MeSH term(s) Adult ; Female ; Humans ; Child ; Pheochromocytoma/genetics ; Temozolomide/therapeutic use ; Positron Emission Tomography Computed Tomography ; Paraganglioma/drug therapy ; Paraganglioma/genetics ; Adrenal Gland Neoplasms/drug therapy ; Neoplasms, Second Primary ; Brain Neoplasms
    Chemical Substances Temozolomide (YF1K15M17Y) ; copper dotatate CU-64
    Language English
    Publishing date 2022-11-09
    Publishing country Switzerland
    Document type Review ; Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.1066208
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  9. Article ; Online: Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).

    Briggs, Mayen / Das, Anirban / Firth, Helen / Levine, Adrian / Sánchez-Ramírez, Santiago / Negm, Logine / Ercan, Ayse B / Chung, Jill / Bianchi, Vanessa / Jalloh, Ibrahim / Phyu, Poe / Thorp, Nicky / Grundy, Richard G / Hawkins, Cynthia / Trotman, Jamie / Tarpey, Patrick / Tabori, Uri / Allinson, Kieren / Murray, Matthew J

    Neuropathology and applied neurobiology

    2022  Volume 49, Issue 1, Page(s) e12862

    MeSH term(s) Humans ; Child ; Neoplastic Syndromes, Hereditary ; Colorectal Neoplasms ; Brain Neoplasms ; Ependymoma ; Mutation
    Language English
    Publishing date 2022-11-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12862
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    Zs.A 1241: Show issues Location:
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  10. Article ; Online: Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

    Wang, Jiyong / Foroutan, Aidin / Richardson, Ellen / Skinner, Steven A / Reilly, Jack / Kerkhof, Jennifer / Curry, Cynthia J / Tarpey, Patrick S / Robertson, Stephen P / Maystadt, Isabelle / Keren, Boris / Dixon, Joanne W / Skinner, Cindy / Stapleton, Rachel / Ruaud, Lyse / Gumus, Evren / Lakeman, Phillis / Alders, Mariëlle / Tedder, Matthew L /
    Schwartz, Charles E / Friez, Michael J / Sadikovic, Bekim / Stevenson, Roger E

    European journal of human genetics : EJHG

    2023  

    Language English
    Publishing date 2023-12-01
    Publishing country England
    Document type Published Erratum
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-023-01499-2
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