极性相反的乳腺高细胞癌具有不寻常的分子特征

K. Nielson, E. Fischer, J. Nemunaitis, Sangeetha Prabhakaran, Nadja K. Falk
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引用次数: 0

摘要

乳腺高细胞癌伴反极性(TCCRP)是罕见的,以前被称为实性乳头状癌伴反极性。这种低级别肿瘤通常表现为IDH2 p.Arg172突变,但在分子水平上尚未完全了解。我们报告一位55岁女性的tccp病例,左侧乳房肿块0.7 cm。采用免疫组织化学进行核心活检。两个月后完成乳房肿瘤切除术和前哨淋巴结活检。在切除块上进行MammaPrint$^{\ texregistrited}$和BluePrint$^{\ texregistrited}$基因表达谱分析。镜下,肿瘤由有边界的柱状细胞巢组成,具有局灶性乳头状结构。肿瘤细胞位于细胞核的顶端,细胞核有沟槽,少见包涵体。肿瘤细胞CK5、IDH1/2和calretinin阳性,肌上皮细胞缺失。BluePrint$^{\ texregisters}$将肿瘤分型为基底细胞。MammaPrint$^{\ texregistrered}$将该肿瘤分类为转移高风险。TCCRP对诊断提出了挑战。虽然这些罕见的乳腺癌通常有一个惰性的临床过程,但通过基因表达谱的分子分析将这种肿瘤分类为具有高复发风险的基底细胞样型。因此,对这种肿瘤的分子分析可能会导致关于预后和治疗考虑的相互矛盾的数据。临床医生和患者在制定治疗计划时应权衡已发表的数据和个人预后信息。我们的病人和临床团队选择了放疗而非化疗。需要对更多的TCCRP病例进行研究,以更好地了解其分子特征。
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Breast tall cell carcinoma with reversed polarity with an unusual molecular profile
Breast tall cell carcinoma with reversed polarity (TCCRP) is rare and previously referred to as solid papillary carcinoma with reverse polarity.  This low grade tumor commonly exhibits IDH2 p.Arg172 mutation, however is not completely understood at the molecular level.  We present a case of TCCRP in a 55 year old woman with a 0.7 cm left breast mass.  A core biopsy was performed with immunohistochemistry.  Lumpectomy and sentinel lymph node biopsy were completed two months later.  MammaPrint$^{\textregistered}$ and BluePrint$^{\textregistered}$ gene expression profilers were performed on an excision block.  Microscopically, the tumor was composed of circumscribed nests of columnar cells, with focal papillary architecture.  Tumor cells had apically located nuclei with grooves and rare inclusions. Tumor cells were positive for CK5, IDH1/2, and calretinin, and myoepithelial cells were absent.  BluePrint$^{\textregistered}$ subtyped the tumor as basaloid.  MammaPrint$^{\textregistered}$ classified the tumor as high risk for metastasis.  TCCRP presents a diagnostic challenge.  Although these rare breast carcinomas are generally reported to have an indolent clinical course, molecular analysis by gene expression profiling classified this tumor as high risk of recurrence with a basaloid type.  Therefore, molecular analysis of this tumor may lead to conflicting data regarding prognosis and treatment considerations.  Clinicians and patients should weigh published data and individual prognostic information for treatment planning.  Our patient and clinical team opted for radiation without chemotherapy.  More cases of TCCRP need to be studied to better understand its molecular profile.
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