教育演講11:檢驗醫學的最新發展
Current progress in laboratory medicine

程 序 表

E11-4
Recent Advance in Endocrine Laboratory Medicine.
葉振聲Tjin-Shing Jap, M.D.
Taipei Veterans General Hospital, Taipei
Weigong Memorial Hospital, Toufen Township, Miaoli County

  Over the last decade, major advances in laboratory assays, molecular biology and information technology from big data have led to important changes in endocrine practice. The new knowledge accrued from large clinical trials such as DCCT, UKPDS, ADVANCE and ACCORD studies has expanded our application of evidence-based medicine and now encourage us to accept new concepts of personalized medicine. For example, timely refinements in methodology of HBA1c measurement have improved the reliability of this test and now allow clinicians to use it as a tool to diagnose diabetes. And the recent introduction of a new kit for Glycated albumin may allow clinicians to monitor diabetic control in patients with a hemoglobinopathy.
  As an example, the management of common thyroid disorders is often complicated by assay artifacts. Here, the introduction of high sensitivity assays for thyroid-stimulating hormone (TSH) with improved diagnostic accuracy had facilitated diagnosis of so-called ‘subclinical’ disorders. Similarly, third generation TSH receptor antibody assays provide more reliable methodology to assess the current status of Graves’ Ophthalmopathy. Moreover, thyroid sonography in combination with fine needle aspiration of thyroid lesions now permits rapid evaluation of thyroid nodules. In addition to cytopathology, aspirated material can be analyzed using new molecular tests for mRNA transcripts and cancer-associated genes, which enhances the diagnostic accuracy of the aspiration biopsy. After thyroid surgery, patients with thyroid cancer can be monitored using anti-thyroglobulin antibody in addition to thyroglobulin determination, which is now standard practice in Endocrine clinic. Using artificial intelligence (AI) technology, AmCAD-UT detection may read the ultrasound thyroid cancer with high precision and accuracy. That revision nomenclature of papillary carcinoma in cytology turned out to be an encapsulated follicular variance of thyroid neoplasm in histology had changed the reimbursement policy in insurance industry.
  Based on new molecular and biochemical analyses, we now recognize new forms of adrenal gland disease, and the diagnosis of AIMAH (ACTH independent macro adrenal hyperplasia) was shifted to BMAH (Bilateral Macro Adrenal Hyperplasia). Assay of midnight salivary cortisol levels now provide a very simple and robust test for Cushing syndrome. Observation of the typical loss of diurnal rhythm of cortisol secretions and the low ACTH levels can often permit the clinician to avoid numerous suppression tests and to directly image the adrenal glands by MRI or computerized tomography (CT). The new emerging diagnosis of ConnShing (Conn’ and Cushing) syndrome at the same individual is now seen in the latest literature.
  Immunoglobulin G4 (IgG4)-related disease was only recently discovered, so its description, management, and new discoveries related to its etiology are rapidly evolving. Because IgG4 itself is a unique antibody which is intimately related to the diagnosis of the disease, this test has become important in the evaluation of patients with tumor-like inflammatory syndromes that may affect the pancreas, lung, prostate and even the pituitary. For every nonfunctional pituitary tumor, the IgG4 measurement is highly recommended. Measurement of IgG 4 in postpartum women with Lymphocytic Hypophysitis is also highly suggested proved until to be otherwise.
  In the advance of molecular biology, many germline and somatic mutations had been shown in application of diagnosis and prognosis of the respective cancer such as BRAF gene in thyroid cancer, KCNJ5 (Kir 3.4) gene in primary aldosteronism and ARMC5 gene mutation in primary bilateral adrenal macronodular hyperplasia and MENIN gene in MEN1 syndrome, respectively. Similarly, germline mutations had been described in MODY, FHH and Neonatal Permanent diabetes, respectively. Measurement of BRAF gene mutation in thyroid cancer becomes necessary no longer luxurious.
  For anatomical localization of a wide variety of endocrine organs, CT scan was recommended for abdominal lesions including pancreatic and adrenal pathology; magnetic resonance imaging (MRI) now allows more precise definition of parasellar structures and small intrasellar pituitary adenomas and sonography study for thyroid gland lesion, respectively. On the other hand, the precision of anatomical imaging has resulted in the frequent identification of incidental lesions. The pancreatic mass with hypervascularity should be suspected as the case of neuroendocrine tumor and measuring chromogranin A (CGA) is warranted.
  In conclusion, the modification of diagnostic criteria, advanced laboratory tests and unraveling of molecular mystery in medicine had really broadened our insight in the pathogenesis and management of endocrine disorders in such a way that it had modified our daily practice.