Marletta Stefano, Giorlandino Alexandra, Cavallo Enrico, Dello Spedale Venti Michele, Leone Giorgia, Tranchina Maria Grazia, Gullotti Lucia, Bonanno Claudia Lucia, Spoto Graziana, Falzone Giusi, Tornabene Irene, Trovato Carmelina, Baron Marco Maria, Di Mauro Giuseppe, Falsaperna Lucia, Angelico Giuseppe, Pafumi Sarah, Rizzo Antonio
Division of Pathology, Humanitas Istituto Clinico Catanese, 95045 Catania, Italy.
Department of Diagnostics and Public Health, Section of Pathology, University of Verona, 37134 Verona, Italy.
Diagnostics (Basel). 2024 Jan 25;14(3):259. doi: 10.3390/diagnostics14030259.
: Breast cancer (BC) is a heterogeneous disease made up of clones with different metastatic potential. Intratumoral heterogeneity may cause metastases to show divergent biomarker expression, potentially affecting chemotherapy response. : We investigated the immunohistochemical (IHC) and FISH profile of estrogen receptors (ER), progesterone (PR) receptors, Ki67, and HER2 in a series of BC-matched primary tumors (PTs) and axillary lymph node (ALN) metastases in pre-operative core needle biopsies (CNBs). Phenotypical findings were correlated to morphological features and their clinical implications. : Divergent expression between PTs and ALNs was found in 10% of the tumors, often involving multiple biomarkers (12/31, 39%). Most (52%) displayed significant differences in ER and PR staining. HER2 divergences were observed in almost three-quarters of the cases (23/31, 74%), with five (16%) switching from negativity to overexpression/amplification in ALNs. Roughly 90% of disparities reflected significant morphological differences between PTs and ALN metastases. Less than half of the discrepancies (12/31, 39%) modified pre/post-operative treatment options. : We observed relevant discrepancies in biomarker expression between PTs and metastatic ALNs in a noteworthy proportion (10%) of preoperative BC CNBs, which were often able to influence therapies. Hence, our data suggest routine preoperative assessment of biomarkers in both PTs and ALNs in cases showing significant morphological differences.
乳腺癌(BC)是一种由具有不同转移潜能的克隆组成的异质性疾病。肿瘤内异质性可能导致转移灶呈现不同的生物标志物表达,从而潜在地影响化疗反应。我们在一系列术前粗针穿刺活检(CNB)中,对乳腺癌匹配的原发性肿瘤(PT)和腋窝淋巴结(ALN)转移灶进行了雌激素受体(ER)、孕激素(PR)受体、Ki67和HER2的免疫组织化学(IHC)及荧光原位杂交(FISH)分析。将表型结果与形态学特征及其临床意义相关联。在10%的肿瘤中发现PT与ALN之间存在表达差异,且常涉及多种生物标志物(12/31,39%)。大多数(52%)在ER和PR染色上显示出显著差异。在近四分之三的病例(23/31,74%)中观察到HER2差异,其中有五例(16%)在ALN中从阴性转变为过表达/扩增。约90%的差异反映了PT与ALN转移灶之间显著的形态学差异。不到一半的差异(12/31,39%)改变了术前/术后的治疗方案。我们在术前乳腺癌CNB中有相当比例(10%)观察到PT与转移性ALN之间生物标志物表达存在显著差异,这些差异往往能够影响治疗。因此,我们的数据表明,对于形态学差异显著的病例,应常规对PT和ALN进行术前生物标志物评估。