Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network.

Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the World Sarcoma Network.
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DOI:
10.1016/j.annonc.2020.08.2232
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发表时间:
2020-11
期刊:
Annals of oncology : official journal of the European Society for Medical Oncology
影响因子:
--
通讯作者:
Blay JY
Blay JY
中科院分区:
其他
文献类型:
--
作者:
Demetri GD;Antonescu CR;Bjerkehagen B;Bovée JVMG;Boye K;Chacón M;Dei Tos AP;Desai J;Fletcher JA;Gelderblom H;George S;Gronchi A;Haas RL;Hindi N;Hohenberger P;Joensuu H;Jones RL;Judson I;Kang YK;Kawai A;Lazar AJ;Le Cesne A;Maestro R;Maki RG;Martín J;Patel S;Penault-Llorca F;Premanand Raut C;Rutkowski P;Safwat A;Sbaraglia M;Schaefer IM;Shen L;Serrano C;Schöffski P;Stacchiotti S;Sundby Hall K;Tap WD;Thomas DM;Trent J;Valverde C;van der Graaf WTA;von Mehren M;Wagner A;Wardelmann E;Naito Y;Zalcberg J;Blay JY

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肉瘤是具有间充质谱系分化的异质性恶性肿瘤组。神经营养酪氨酸受体激酶(NTRK)基因融合作为组织不可知致癌驱动因子的发现已经导致以原肌球蛋白受体激酶(TRK)抑制剂的形式针对患有肉瘤的患者子集的新的个性化疗法。NTRK基因重排和融合转录本可以用不同的分子病理学技术检测,而TRK蛋白表达可以用免疫组化证实。NTRK基因融合的罕见性和诊断的复杂性给临床医生提出了许多问题和挑战。为了应对这些挑战,世界肉瘤网络召集了两次成人肿瘤专家和病理学家会议,随后撰写了这篇文章,为携带NTRK基因融合的肉瘤患者的管理提供实用指导。我们提出了一种诊断策略,考虑疾病阶段和组织学和分子亚型,以促进TRK表达的常规检测和NTRK基因融合的后续检测。
Sarcomas are a heterogeneous group of malignancies with mesenchymal lineage differentiation. The discovery of neurotrophic tyrosine receptor kinase (NTRK) gene fusions as tissue-agnostic oncogenic drivers has led to new personalized therapies for a subset of patients with sarcoma in the form of tropomyosin receptor kinase (TRK) inhibitors. NTRK gene rearrangements and fusion transcripts can be detected with different molecular pathology techniques, while TRK protein expression can be demonstrated with immunohistochemistry. The rarity and diagnostic complexity of NTRK gene fusions raise a number of questions and challenges for clinicians. To address these challenges, the World Sarcoma Network convened two meetings of expert adult oncologists and pathologists and subsequently developed this article to provide practical guidance on the management of patients with sarcoma harboring NTRK gene fusions. We propose a diagnostic strategy that considers disease stage and histologic and molecular subtypes to facilitate routine testing for TRK expression and subsequent testing for NTRK gene fusions.
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