Concurrent <i>BRAF</i> and <i>PTEN</i> mutations in melanoma of unknown origin presenting as a breast mass

Agosto‐Arroyo, Emmanuel; Rosa, Marilin; Chau, Alec; Khazai, Laila

doi:10.1177/2050313x17711064

Cited by 6 publications

(3 citation statements)

References 26 publications

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“…For BRAF, more and more co-mutations have been found between BRAF and other genes, which also indicates that the branching cloning process occurs at the early stage of tumor evolution, which leads to the generation of BRAF co-mutations. According to literature reports, BRAF can co-occur with KRAS mutation ( 27 , 28 ), NRAS mutation ( 29 ), PTEN mutation ( 30 , 31 ), MEK2 mutation ( 32 ), PIK3CA mutation ( 33 ) and other gene mutations. And most of these BRAF co-mutations occur in melanoma and lung cancer, but also found in other tumors.…”

Section: The Activation Of Brafmentioning

confidence: 99%

The Evolution of BRAF Activation in Non-Small-Cell Lung Cancer

et al. 2022

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Non-small-cell lung cancer (NSCLC) is the most common subtype of lung cancer, of which approximate 4% had BRAF activation, with an option for targeted therapy. BRAF activation comprises of V600 and non-V600 mutations, fusion, rearrangement, in-frame deletions, insertions, and co-mutations. In addition, BRAF primary activation and secondary activation presents with different biological phenotypes, medical senses and subsequent treatments. BRAF primary activation plays a critical role in proliferation and metastasis as a driver gene of NSCLC, while secondary activation mediates acquired resistance to other targeted therapy, especially for epidermal growth factor tyrosine kinase inhibitor (EGFR-TKI). Treatment options for different activation of BRAF are diverse. Targeted therapy, especially two-drug combination therapy, is an important option. Besides, immune checkpoint inhibitors (ICIs) would be another option since BRAF activation would be a positive biomarker of tumor response of ICIs therapy. To date, no high level evidences support targeted therapy or immunotherapy as prioritized recommendation. After targeted therapy, the evolution of BRAF includes the activation of the upstream, downstream and bypass pathways of BRAF. In this review, therapeutic modalities and post-therapeutic evolutionary pathways of BRAF are discussed, and future research directions are also provided.

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Section: The Activation Of Brafmentioning

confidence: 99%

The Evolution of BRAF Activation in Non-Small-Cell Lung Cancer

et al. 2022

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“…Molecular analysis for the BRAF V600E gene has been carried out in only four of the 15 patients with three cases reported positive and one negative. 3,4,10,13 Breast cancers can be classified into four major molecular subtypes based on the expression of specific genes including luminal A, luminal B, human epidermal growth factor receptor 2 (HER2)-enriched, and basal-like breast cancer. Triple-negative breast cancers (TNBCs), characterized by the absence of ER, PR, and HER2, account for~15% of all breast malignancies, while also being the most aggressive ones.…”

Section: Epidemiology and Pathogenesis Of Primary Melanomamentioning

confidence: 99%

Malignant melanoma of the breast: controversies in the diagnosis and therapeutic management of a rare nosologic entity

et al. 2020

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Melanoma of the breast is an infrequent entity, presenting as either primary or metastatic from extramammary solid neoplasms. Depending on the involvement of the skin, primary malignant melanoma of the breast (PMMB) can be classified as cutaneous or noncutaneous. Cutaneous PMMB accounts for <5% of all melanomas and only 0.5% of all breast cancers. Furthermore, despite the rarity of metastatic breast neoplasms, melanoma comprises a frequent source of metastases. Metastatic potential of melanoma is associated with poor prognosis, and the majority of patients present more than one metastatic foci at the time of diagnosis. Diagnostic approach for both primary and metastatic melanomas of the breast is substantiated by fine needle aspiration (FNA) cytology along with immunohistochemistry. Nevertheless, verification of a metastatic mammary melanoma requires the discovery of a primary lesion. The mainstay of treatment for primary tumors is surgery, with radical local excision and axillary lymph node dissection or, on occasion, axillary sentinel node resection, while for metastatic tumors it depends on the specificities of the melanoma. Adjuvant therapy is always implemented. The aim of this survey is to meticulously review the literature of primary and metastatic malignant melanomas of the breast and report epidemiologic and clinicopathologic data for this rare entity. Clinical features, histogenesis, morphological, and immunochemical findings are discussed, while the role of current diagnostic and therapeutic management of this uncommon entity is emphasized.

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“… 5 , 6 Except in some cases of cancer of unknown primary site, the melanoma might possibly arise as a second primary in association with the first tumor. 5 , 7 , 8 , 9 , 10 From a biological point of view, besides the hypothesis of de novo onset within different sites, some studies explain melanomas of unknown primary as being the result of a regression of the primary tumor after the occurrence of the metastasis, mediated by the immune system. 11 Nevertheless, during carcinogenesis, cell dysregulation could cause malignant cells to express other tissue‐specific markers or metabolites which would make distinguishing its tumor of origin more difficult.…”

Section: Introductionmentioning

confidence: 99%