The current molecular classification divides breast cancer into four major subtypes, including luminal A, luminal B, HER2-positive, and basal-like, based on receptor gene expression profiling. Luminal A and luminal B are hormone receptor (HR, estrogen, and/or progesterone receptor)-positive and are the most common subtypes, accounting for around 50–60% and 15–20% of the total breast cancer cases, respectively. The drug treatment for HR-positive breast cancer includes endocrine therapy, HER2-targeted therapy (depending on the HER2 status), and chemotherapy (depending on the risk of recurrence). In this review, in addition to classification, we focused on discussing the important aspects of HR-positive breast cancer, including HR structure and signaling, genetics, including epigenetics and gene mutations, gene expression-based assays, the traditional and new drugs for treatment, and novel or new uses of technology in diagnosis and treatment. Particularly, we have summarized the commonly mutated genes and abnormally methylated genes in HR-positive breast cancer and compared four common gene expression-based assays that are used in breast cancer as prognostic and/or predictive tools in detail, including their clinical use, the factors being evaluated, patient demographics, and the scoring systems. All these topic discussions have not been fully described and summarized within other research or review articles.
A majority of pediatric outpatient practice involves managing familiar diseases that present in familiar ways. Occasionally, a familiar disease presents uniquely, which adds a diagnostic challenge and enhances the clinical experience of the clinician. We describe an 18-month-old male who presented to the clinic with a familiar disease but with unique additional findings. The patient had a one-day history of rash, subjective fever, and several episodes of non-bloody diarrhea. The rash included petechial lesions across his abdomen, groin, back, arms, and legs, as well as vesicular lesions in the mouth and on the palms and soles. A tentative diagnosis of hand, foot, and mouth disease (HFMD) was made. However, the presence of petechiae prompted further laboratory evaluation, including a complete blood count (CBC) and comprehensive metabolic panel (CMP). The CBC was unremarkable, but the CMP revealed an abnormally high serum alkaline phosphatase (ALP) level of 1,353 U/L (normal range: 53-128 U/L). The patient was subsequently diagnosed with an atypical presentation of HFMD associated with transient hyperphosphatasemia (TH). TH is characterized by a benign increase in serum alkaline phosphatase levels with an absence of liver or bone diseases. TH is usually clinically silent. Clinicians should consider the possibility of TH in pediatric patients who are found incidentally to have an elevated ALP, especially with a concomitant viral infection. An awareness and understanding of TH will prevent unnecessary additional testing and avoid undue parental anxiety.
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