RESUMEN
BACKGROUND: The purpose of this study was to assess the concordance of real-time quantitative reverse transcription polymerase chain reaction (RT-qPCR) detection of ESR1, PGR, ERBB2, and MKi67 messenger RNA (mRNA) in breast cancer tissues with central immunohistochemistry (IHC) in women treated within the prospective, randomized Austrian Breast and Colorectal Cancer Study Group (ABCSG) Trial 6. PATIENTS AND METHODS: We evaluated ESR1, PGR, ERBB2, and MKi67 mRNA expression by Xpert® Breast Cancer STRAT4 (enables cartridge-based RT-qPCR detection of mRNA in formalin-fixed paraffin-embedded tissues) and estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), and Ki67 protein expression by IHC [in situ hybridization (ISH) for HER2 IHC 2+] in 1115 surgical formalin-fixed paraffin-embedded specimens from patients of ABCSG Trial 6. Overall percent agreement (concordance), positive percent agreement (sensitivity), and negative percent agreement (specificity) between STRAT4 and IHC were determined for each marker. The primary objective of the study was concordance between STRAT4 mRNA measurements of ESR1, PGR, ERBB2, and MKi67 with central reference laboratory IHC (and ISH for HER2 IHC 2+ cases). Time to distant recurrence was analyzed by Cox models. RESULTS: All performance targets for ER, PR, and Ki67 were met. For HER2, the negative percent agreement target but not the positive percent agreement target was met. Concordance between STRAT4 and IHC was 98.9% for ER, 89.9% for PR, 98.2% for HER2, and 84.8% for Ki67 (excluding intermediate IHC 10%-20% staining). In univariable and multivariable Cox regression analyses, all four biomarkers tested by either STRAT4 RT-qPCR or by central IHC (ISH) had a comparable time to distant recurrence indicating similar prognostic value. CONCLUSIONS: With the exception of HER2, we demonstrate high concordance between centrally assessed IHC and mRNA measurements of ER, PR, and Ki67 as well as a high correlation of the two methods with clinical outcome. Thus, mRNA-based assessment by STRAT4 is a promising new tool for diagnostic and therapeutic decisions in breast cancer.
Asunto(s)
Neoplasias de la Mama , Receptores de Progesterona , Biomarcadores de Tumor/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Receptor alfa de Estrógeno/genética , Femenino , Hormonas , Humanos , Antígeno Ki-67/genética , Recurrencia Local de Neoplasia , Posmenopausia , Estudios Prospectivos , ARN Mensajero/genética , Receptor ErbB-2 , Receptores de Progesterona/genéticaRESUMEN
We report three cases of infants born with extensive linear and retiform pigmentation on the trunk and extremities. In none of these cases was there an associated underlying medical disorder, and in all cases the pigmentation resolved by 6 months of age. It appears that the treatment of choice for this transient disorder is reassurance.
Asunto(s)
Hiperpigmentación/congénito , Humanos , Hiperpigmentación/patología , Lactante , Recién Nacido , Masculino , Piel/patologíaRESUMEN
Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin at birth. A subtype consisting of a solitary scalp defect in association with limb abnormalities has been described. We report a case of ACC in association with 3,4 syndactyly and supernumerary nipples with an apparent autosomal dominant inheritance pattern.
