PMC6475092_01
Timeline of the present case.. Abbreviations: bid, twice a day; m, month; PR, partial response; qd, once a day; TEC, docetaxel + epirubicin + cyclophosphamide; TACE, transcatheter arterial chemoembolization; y, years; HER2, human epidermal growth factor receptor 2; SD, stable disease; PD, progression of disease.
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Figure 1 summarizes the clinical course of this patient, who provided informed consent for the publication of these case details.
Photographs of the primary lesion in the patient's left breast.. Notes: (A) Before VT therapy. (B) After 2 cycles of VT therapy. (C) After 4 cycles of VT therapy.. Abbreviation: VT, vinorelbine + trastuzumab.
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After she arrived at our hospital, physical and imaging examinations revealed a bulky mass in the left breast, multiple enlarged lymph nodes in the left axilla, and multiple massive tumors in both lobes of the liver (Figures 2A and 3A-C). Following a multidisciplinary team conference, a treatment regimen comprising vinorelbine (25 mg/m2 on days 1 and 8, every 3 weeks [Q3W]) plus trastuzumab (6 mg/kg, 8 mg/kg loading dose, q3w) was administered, which quickly relieved the pain in the left breast (Figure 2).
Comparison of computed tomography scans before and after 2 cycles of vinorelbine + trastuzumab regimen.. Note: (A and B) Left breast lesion before and after treatment, respectively; (C and D) left liver lesions before and after treatment, respectively.
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After she arrived at our hospital, physical and imaging examinations revealed a bulky mass in the left breast, multiple enlarged lymph nodes in the left axilla, and multiple massive tumors in both lobes of the liver (Figures 2A and 3A-C). CT scans showed significant shrinkage of all lesions after the first 2 cycles of treatment, although heterogeneous responses were observed in the right and left liver lobes (Figure 3).
Analysis of the primary left breast and liver lesion tissue.. Notes: (A) H&E; (C) IHC, HER2 2+; (D) FISH, HER2-; analysis of the primary breast lesion. (B) H&E; (E) IHC, HER2-; analysis of metastatic liver lesion. H&E stained images are depicted at 100x magnification.. Abbreviations: FISH, fluorescence in situ hybridization; HER2, human epidermal growth factor receptor 2; IHC, immunohistochemistry.
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FISH indicated HER2- (HER2 signals =3.43, CEP17 signals =2.67, HER2/CEP 17=1.29, and chromosome 17= diploid) (Figure 4A-C). A pathologic review of the liver lesion prior to initial treatment indicated a metastasis of breast origin and the following IHC status: 70% ER+, 70% PR+, 15% Ki-67+, and HER2- (Figure 4D and E).
HER2 V777L mutation identified from ctDNA sequencing.. Note: A screenshot of the Integrative Genomics Viewer is shown.. Abbreviations: A, adenine; C, cytosine; ctDNA, circulating tumor DNA; G, guanine; HER2, human epidermal growth factor receptor 2; T, thymine.
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This mutation was also detected in circulating tumor DNA (ctDNA) at an allelic frequency of 33.85% (Table 1 and Figure 5).