تقرير
أعرض في EDS

Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.

التفاصيل البيبلوغرافية
العنوان: Spindle cell neoplasms with novel LTK fusion - Expanding the spectrum of kinase fusion-positive soft tissue tumors.
المؤلفون: Yeung MCF; Department of Pathology, School of Clinical Medicine, The University of Hong Kong, Hong Kong., Dermawan JK; Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Liu APY; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, The University of Hong Kong, Hong Kong.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong., Lam AYL; Division of General Orthopaedics and Oncology, Department of Orthopedics and Traumatology, School of Clinical Medicine, The University of Hong Kong, Hong Kong., Antonescu CR; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA., Shek TWH; Department of Pathology, School of Clinical Medicine, The University of Hong Kong, Hong Kong.
المصدر: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Mar; Vol. 63 (3), pp. e23227.
نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Internet ISSN: 1098-2264 (Electronic) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE
أسماء مطبوعة: Publication: New York, NY : Wiley-Liss
Original Publication: New York : A.R. Liss, c1989-
مواضيع طبية MeSH: Neoplasms, Connective and Soft Tissue*/genetics , Neoplasms, Connective and Soft Tissue*/pathology , Skin Neoplasms*/pathology , Soft Tissue Neoplasms*/genetics , Soft Tissue Neoplasms*/pathology , Oncogene Proteins, Fusion*/genetics, Adolescent ; Child ; Female ; Humans ; Male ; Antigens, CD34/metabolism ; Biomarkers, Tumor/genetics ; Receptor Protein-Tyrosine Kinases ; Myosin Heavy Chains/genetics ; Nonmuscle Myosin Type IIB/genetics
مستخلص: Aims: Kinase fusion-positive soft tissue tumors represent an emerging, molecularly defined group of mesenchymal tumors with a wide morphologic spectrum and diverse activating kinases. Here, we present two cases of soft tissue tumors with novel LTK fusions.
Methods and Results: Both cases presented as acral skin nodules (big toe and middle finger) in pediatric patients (17-year-old girl and 2-year-old boy). The tumors measured 2 and 3 cm in greatest dimension. Histologically, both cases exhibited bland-looking spindle cells infiltrating adipose tissue and accompanied by collagenous stroma. One case additionally displayed perivascular hyalinization and band-like stromal collagen. Both cases exhibited focal S100 staining, and one case had patchy coexpression of CD34. Targeted RNA-seq revealed the presence of novel in-frame MYH9::LTK and MYH10::LTK fusions, resulting in upregulation of LTK expression. Of interest, DNA methylation-based unsupervised clustering analysis in one case showed that the tumor clustered with dermatofibrosarcoma protuberans (DFSP). One tumor was excised with amputation with no local recurrence or distant metastasis at 18-month follow-up. The other case was initially marginally excised with local recurrence after one year, followed by wide local excision, with no evidence of disease at 10 years of follow-up.
Conclusions: This is the first reported case series of soft tissue tumors harboring LTK fusion, expanding the molecular landscape of soft tissue tumors driven by activating kinase fusions. Furthermore, studies involving a larger number of cases and integrated genomic analyses will be warranted to fully elucidate the pathogenesis and classification of these tumors.
(© 2024 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.)
References: Mod Pathol. 2019 May;32(5):609-620. (PMID: 30459475)
Ann Diagn Pathol. 2016 Dec;25:64-71. (PMID: 27806849)
Genome Res. 2021 Mar;31(3):448-460. (PMID: 33441414)
Genome Biol. 2014;15(12):550. (PMID: 25516281)
Nat Commun. 2021 Jan 21;12(1):498. (PMID: 33479225)
Cancer Discov. 2012 May;2(5):401-4. (PMID: 22588877)
Nature. 2010 May 20;465(7296):373-7. (PMID: 20485438)
Nature. 2021 Dec;600(7888):319-323. (PMID: 34819663)
Genes Chromosomes Cancer. 2018 Sep;57(9):437-445. (PMID: 30014607)
Nat Med. 2014 Dec;20(12):1479-84. (PMID: 25384085)
Mod Pathol. 2018 Nov;31(11):1683-1693. (PMID: 29955147)
Int J Surg Pathol. 2022 Sep;30(6):682-688. (PMID: 35156861)
Genes Chromosomes Cancer. 2003 Aug;37(4):427-32. (PMID: 12800156)
Diagn Pathol. 2021 Jul 13;16(1):63. (PMID: 34256767)
Gene. 2002 Mar 20;286(2):215-22. (PMID: 11943476)
Lancet Oncol. 2018 May;19(5):705-714. (PMID: 29606586)
Genome Biol. 2019 Oct 21;20(1):213. (PMID: 31639029)
Bioinformatics. 2014 May 15;30(10):1363-9. (PMID: 24478339)
Oncogene. 1997 Jun 26;14(25):3067-72. (PMID: 9223670)
Cell. 2017 Nov 2;171(4):950-965.e28. (PMID: 29100075)
Mod Pathol. 2021 Feb;34(2):396-407. (PMID: 32860002)
Am J Hum Genet. 2001 Nov;69(5):1033-45. (PMID: 11590545)
Genes Chromosomes Cancer. 2018 Dec;57(12):611-621. (PMID: 30276917)
J Cutan Pathol. 2022 Mar;49(3):274-277. (PMID: 34628665)
Genes Chromosomes Cancer. 2020 Aug;59(8):437-444. (PMID: 32243019)
J Biol Chem. 2002 Nov 29;277(48):46512-7. (PMID: 12237319)
Genes Chromosomes Cancer. 2020 Oct;59(10):575-583. (PMID: 32506523)
J Cell Biol. 2019 Aug 5;218(8):2470-2480. (PMID: 31227593)
PLoS One. 2012;7(2):e31733. (PMID: 22347506)
J Pathol. 2016 Apr;238(5):700-10. (PMID: 26863915)
Dermatopathology (Basel). 2023 Jan 29;10(1):54-62. (PMID: 36810566)
Pediatr Dev Pathol. 2012;15(1 Suppl):127-80. (PMID: 22420727)
معلومات مُعتمدة: P30 CA008748 United States CA NCI NIH HHS; P50 CA217694 United States CA NCI NIH HHS; P50CA217694 United States NH NIH HHS; P30CA008748 United States NH NIH HHS
فهرسة مساهمة: Keywords: LTK; MYH10; MYH9; kinase fusion; soft tissue tumor
المشرفين على المادة: 0 (Antigens, CD34)
0 (Biomarkers, Tumor)
EC 2.7.10.1 (LTK protein, human)
EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
0 (Oncogene Proteins, Fusion)
0 (MYH9 protein, human)
EC 3.6.1.- (nonmuscle myosin type IIB heavy chain)
EC 3.6.4.1 (Myosin Heavy Chains)
EC 3.6.1.- (Nonmuscle Myosin Type IIB)
تواريخ الأحداث: Date Created: 20240322 Date Completed: 20240325 Latest Revision: 20240622
رمز التحديث: 20240623
مُعرف محوري في PubMed: PMC10963038
DOI: 10.1002/gcc.23227
PMID: 38517106
قاعدة البيانات: MEDLINE
الوصف
تدمد:1098-2264
DOI:10.1002/gcc.23227