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EGFR-L747S
References Acquired resistance L747S mutation in an epidermal growth factor receptor-tyrosine kinase inhibitor-naïve patient: A report of three cases. Yamaguchi F, Fukuchi K, Yamazaki Y, Takayasu H,...
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KRAS-G13D
Mutation in codon 12 or 13 in the Kirsten rat sarcoma viral oncogene homolog (KRAS) gene, downstream of the EGFR, evokes constitutive activation of the RAS/RAF/MAPK signaling pathway and correlates...
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targeted sequencing in leukemias
References Next generation sequencing based multi-gene mutational screen foracute myeloid leukemia using miseq: applicability for diagnostics anddisease monitoring. Luthra R, Patel KP, Reddy NG,...
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9p21 loss
p16 loss in 9p21 FISH p16 FISH with BAP1 immunohistochemistry can be used to separate benign from malignant mesothelial proliferations. (#25634745#)References BAP1 Immunohistochemistry and p16 FISH to...
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4q21.23-22.1 LOH
Pathology Loss of 4q21.23-22.1 is a prognostic marker for disease free and overall survival in non-small cell lung cancer. (#25501003#)See also 4q21.23-22.1Open References Loss of 4q21.23-22.1 is a...
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MYC amplification
Pathology Amplification of MYC and nuclear expression of MYC is present in secondary angiosarcoma but not atypical vascular lesion (AVL). (#22121953#) Secondary angiosarcoma and benign but...
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inv(3)(q21q26)
Inv(3)(q21q26)/t(3;3)(q21;q26.2) is the most common form of genetic abnormality of the so-called 3q21q26 syndrome.Myeloid neoplasms with 3q21q26 aberrancies include acute myeloid leukemia (AML),...
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del1(p36)
deletion 1p63Del 1p36 can be observed in primary cutaneous follicle center lymphoma (PCFCL). (#26658664#)Paywall references Primary Cutaneous Follicle Center Lymphomas Expressing BCL2 Protein...
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t(7,16)(q32-34;p11)
Pathology Low-grade fibromyxoid sarcoma (LGFMS) bear either the t(7,16)(q32-34;p11) or t(11,16)(p11;p11) translocations, resulting in FUS-CREB3L2 or FUS-CREB3L1 fusions, respectively.
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t(11,16)(p11;p11)
Pathology Low-grade fibromyxoid sarcoma (LGFMS) bear either the t(7,16)(q32-34;p11) or t(11,16)(p11;p11) translocations, resulting in FUS-CREB3L2 or FUS-CREB3L1 fusions, respectively.
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6p25.3 rearrangement
See also 6p25.3Open references Mucosal CD30-positive T-cell lymphoproliferations of the head and neck show a clinicopathologic spectrum similar to cutaneous CD30-positive T-cell lymphoproliferative...
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t(5;8)(p15;q13)
Pathology RHOH-NCOA2 gene fusion involving RHOH ( AHRR ) and NCOA2 genes by t(5;8)(p15;q13) in soft tissue angiofibroma
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t(1;10)(p22;q24)
Molecular Pathology t(1;10)(p22;q24) with gene fusion of TGFBR3 and MGEA5 in myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor. (#21717526#)
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MDM2 amplification
Pathology MDM2 amplification Pulmonary artery intimal sarcoma with MDM2 amplificationhttps://twitter.com/AnneMillsMD/status/827558368923549696See also CDK4 amplification 12q13-q15 amplification
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8q21 amplification
Copy number increases restricted to chromosome 8q21 has been described in human cancers, which were reported most frequently in breast cancer.Amplification of 8q21 in breast cancer is independent of...
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