<scp><i>BRAF</i></scp>mutations and concurrent alterations in patients with soft tissue sarcoma

Kobayashi, Hiroshi; Zhang, Liuzhe; Okajima, Koichi; Ishibashi, Yutaka; Tsuda, Yusuke; Ikegami, Masachika; Kage, Hidenori; Shinozaki‐Ushiku, Aya; Oda, Katsutoshi; Tanaka, Sakae

doi:10.1002/gcc.23182

Cited by 4 publications

(2 citation statements)

References 35 publications

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“…BRAF fusions are infrequent driver mutation, and limited to certain diseases including PA, spitzoid melanoma, pancreatic acinar carcinoma and papillary thyroid cancer ( 25 ). BRAF fusions occur extremely rare in sarcomas (0.2%) ( 26 ). Only IFS and MIFS have been reported to be enriched in BRAF driver fusions ( 8 , 27 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: Primary sarcoma of the mandible with a novel SLMAP-BRAF fusion

Zhou,

Liu,

Zheng

et al. 2024

Front. Oncol.

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Primary sarcomas of the jaw are very rare tumor with unclear mechanism of tumorigenesis. Identification of genetic alterations contributes to better understanding of tumorigenesis and extension of tumor spectrum, as well as potential therapeutic targets application. Herein, we firstly report a case of primary sarcoma in the mandible with novel SLMAP-BRAF fusion. Morphologically, the tumor was composed of histiocyte-like cells, larger epithelioid cells, spindle cells and osteoclast-like giant cells with moderate atypia. Focally, it mimicked tenosynovial giant cell tumor or biphasic synovial sarcoma, and even giant cell tumor of bone. SATB2 was diffusely expressed, while p63 and p16 were locally positive with loss expression of p16 in histiocyte-like and larger epithelioid cells. SLMAP-BRAF (S11:B10) fusion was detected by both DNA and RNA NGS, and further verified by sanger sequencing, DNA electrophoresis and FISH. Then a descriptive diagnosis of BRAF rearrangement sarcoma with moderate-grade malignancy (non-specific type) was given according to the biological behavior, morphological features and gene alteration. The patient finished six cycles of chemotherapy after hemimaxillectomy. Within 7 months of follow-up, no tumor recurrence or metastasis was observed. Our case has enriched the spectrum of jaw bone tumor and BRAF rearrangement tumor.

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Section: Discussionmentioning

confidence: 99%

Case report: Primary sarcoma of the mandible with a novel SLMAP-BRAF fusion

Zhou,

Liu,

Zheng

et al. 2024

Front. Oncol.

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“…Our analysis reveals a number of objective responses and prolonged PFS with BRAF inhibitors as single agents or combinational treatments, reflecting a possible oncogenic role. A recent retrospective analysis of nearly 2000 STS showed the occurrence of BRAF alterations in 1.2%, including mutations and fusions [58].…”

Section: Discussionmentioning

confidence: 99%

Genomic Profiling and Clinical Outcomes of Targeted Therapies in Adult Patients with Soft Tissue Sarcomas

Kokkali,

Georgaki,

Mandrakis

et al. 2023

Cells

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Genomic profiling has improved our understanding of the pathogenesis of different cancers and led to the development of several targeted therapies, especially in epithelial tumors. In this review, we focus on the clinical utility of next-generation sequencing (NGS) to inform therapeutics in soft tissue sarcoma (STS). The role of NGS is still controversial in patients with sarcoma, given the low mutational burden and the lack of recurrent targetable alterations in most of the sarcoma histotypes. The clinical impact of genomic profiling in STS has not been investigated prospectively. A limited number of retrospective, mainly single-institution, studies have addressed this issue using various NGS technologies and platforms and a variety of criteria to define a genomic alteration as actionable. Despite the detailed reports on the different gene mutations, fusions, or amplifications that were detected, data on the use and efficacy of targeted treatment are very scarce at present. With the exception of gastrointestinal stromal tumors (GISTs), these targeted therapies are administered either through off-label prescription of an approved drug or enrollment in a matched clinical trial. Based mainly on anecdotal reports, the outcome of targeted therapies in the different STS histotypes is discussed. Prospective studies are warranted to assess whether genomic profiling improves the management of STS patients.

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A diagnostic challenge of KIT p.V559D and BRAF p.G469A mutations in a paragastric mass

Habringer,

Ihlow,

Kleo

et al. 2024

The Oncologist

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A patient with gastrointestinal stroma tumor (GIST) and KIT p.V559D and BRAF p.G469A alterations was referred to our institutional molecular tumor board (MTB) to discuss therapeutic implications. The patient had been diagnosed with B-cell chronic lymphocytic leukemia (CLL) years prior to the MTB presentation. GIST had been diagnosed 1 month earlier. After structured clinical annotation of the molecular alterations and interdisciplinary discussion, we considered BRAF/KIT co-mutation unlikely in a treatment-naïve GIST. Discordant variant allele frequencies furthermore suggested a second malignancy. NGS of a CLL sample revealed the identical class 2 BRAF alteration, thus supporting admixture of CLL cells in the paragastric mass, leading to the detection of 2 alterations. Following the MTB recommendation, the patient received imatinib and had a radiographic response. Structured annotation and interdisciplinary discussion in specialized tumor boards facilitate the clinical management of complex molecular findings. Coexisting malignancies and clonal hematopoiesis warrant consideration in case of complex and uncommon molecular findings.

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BRAFmutations and concurrent alterations in patients with soft tissue sarcoma

Cited by 4 publications

References 35 publications

Case report: Primary sarcoma of the mandible with a novel SLMAP-BRAF fusion

Case report: Primary sarcoma of the mandible with a novel SLMAP-BRAF fusion

Genomic Profiling and Clinical Outcomes of Targeted Therapies in Adult Patients with Soft Tissue Sarcomas

A diagnostic challenge of KIT p.V559D and BRAF p.G469A mutations in a paragastric mass

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