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A Detailed Histologic and Molecular Assessment of the Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma.
Chou, Angela; Qiu, Min Ru; Crayton, Henry; Wang, Bin; Ahadi, Mahsa S; Turchini, John; Clarkson, Adele; Sioson, Loretta; Sheen, Amy; Singh, Nisha; Clifton-Bligh, Roderick J; Robinson, Bruce G; Gild, Matti L; Tsang, Venessa; Leong, David; Sidhu, Stanley B; Sywak, Mark; Delbridge, Leigh; Aniss, Ahmad; Wright, Dale; Graf, Nicole; Kumar, Amit; Rathi, Vivek; Benitez-Aguirre, Paul; Glover, Anthony R; Gill, Anthony J.
Afiliación
  • Chou A; NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Cancer Diagnosis and Pathology Research Group
  • Qiu MR; Department of Anatomical Pathology, SydPATH, St Vincent's Hospital, Darlinghurst, New South Wales, Australia; University of NSW, Randwick, New South Wales, Australia.
  • Crayton H; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia.
  • Wang B; Department of Anatomical Pathology, SydPATH, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.
  • Ahadi MS; NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Cancer Diagnosis and Pathology Research Group
  • Turchini J; Department of Anatomical Pathology, Douglass Hanly Moir Pathology (A Sonic Healthcare Practice), Macquarie Park, New South Wales, Australia; Discipline of Pathology, Macquarie Medical School, Macquarie University, New South Wales, Australia.
  • Clarkson A; NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Cancer Diagnosis and Pathology Research Group, Kolling Institute of Medical Research, St Leonards, New South Wales, Australia.
  • Sioson L; Cancer Diagnosis and Pathology Research Group, Kolling Institute of Medical Research, St Leonards, New South Wales, Australia.
  • Sheen A; Cancer Diagnosis and Pathology Research Group, Kolling Institute of Medical Research, St Leonards, New South Wales, Australia.
  • Singh N; NSW Health Pathology, Cytogenetics Department, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Clifton-Bligh RJ; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Robinson BG; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Gild ML; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Tsang V; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Department of Endocrinology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Leong D; Endocrine Surgical Unit, Royal North Shore Hospital, St Leonards, University of Sydney, New South Wales, Australia.
  • Sidhu SB; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Endocrine Surgical Unit, Royal North Shore Hospital, St Leonards, University of Sydney, New South Wales, Australia.
  • Sywak M; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Endocrine Surgical Unit, Royal North Shore Hospital, St Leonards, University of Sydney, New South Wales, Australia.
  • Delbridge L; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Endocrine Surgical Unit, Royal North Shore Hospital, St Leonards, University of Sydney, New South Wales, Australia.
  • Aniss A; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Endocrine Surgical Unit, Royal North Shore Hospital, St Leonards, University of Sydney, New South Wales, Australia.
  • Wright D; Cytogenetics Department, Sydney Genome Diagnostics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Specialty of Genome Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Graf N; Histopathology Department, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Kumar A; Diagnostic Genomics, Monash Health Pathology, Monash Health, Clayton, Victoria, Australia.
  • Rathi V; LifeStrands Genomics, Mount Waverley, Victoria, Australia.
  • Benitez-Aguirre P; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Glover AR; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Endocrine Surgical Unit, Royal North Shore Hospital, St Leonards, University of Sydney, New South Wales, Australia; The Kinghorn Cancer Centre, Garvan Institute of Medical
  • Gill AJ; NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia; Faculty of Medicine and Health Sciences and Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia; Cancer Diagnosis and Pathology Research Group
Mod Pathol ; 36(12): 100329, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37716505
ABSTRACT
Diffuse sclerosing variant papillary thyroid carcinoma (DS-PTC) is characterized clinically by a predilection for children and young adults, bulky neck nodes, and pulmonary metastases. Previous studies have suggested infrequent BRAFV600E mutation but common RET gene rearrangements. Using strict criteria, we studied 43 DS-PTCs (1.9% of unselected PTCs in our unit). Seventy-nine percent harbored pathogenic gene rearrangements involving RET, NTRK3, NTRK1, ALK, or BRAF; with the remainder driven by BRAFV600E mutations. All 10 pediatric cases were all gene rearranged (P = .02). Compared with BRAFV600E-mutated tumors, gene rearrangement was characterized by psammoma bodies involving the entire lobe (P = .038), follicular predominant or mixed follicular architecture (P = .003), pulmonary metastases (24% vs none, P = .04), and absent classical, so-called "BRAF-like" atypia (P = .014). There was no correlation between the presence of gene rearrangement and recurrence-free survival. Features associated with persistent/recurrent disease included pediatric population (P = .030), gene-rearranged tumors (P = .020), microscopic extrathyroidal extension (P = .009), metastases at presentation (P = .007), and stage II disease (P = .015). We conclude that DS-PTC represents 1.9% of papillary thyroid carcinomas and that actionable gene rearrangements are extremely common in DS-PTC. DS-PTC can be divided into 2 distinct molecular subtypes and all BRAFV600E-negative tumors (1.5% of papillary thyroid carcinomas) are driven by potentially actionable oncogenic fusions.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Tiroides / Carcinoma Papilar / Neoplasias Pulmonares Límite: Adult / Child / Humans Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Tiroides / Carcinoma Papilar / Neoplasias Pulmonares Límite: Adult / Child / Humans Idioma: En Revista: Mod Pathol Asunto de la revista: PATOLOGIA Año: 2023 Tipo del documento: Article