Recent advances in molecular gynaecological pathology

This review gives an overview of recent advances in our understanding of the molecular basis of gynaecological malignancy, including cervical, vulval, endometrial and ovarian tumours. These advances are beginning to influence clinical practice, perhaps most notably with the introduction of human papillomavirus vaccination for the prevention of anogenital neoplasia, but are likely to have broader clinical implications as further details emerge.     

Recent advances in the molecular pathology of hyperparathyroidism

Hyperparathyroidism represents a wide spectrum of parathyroid disorders from hyperplasia to adenoma and carcinoma. These disorders can be present as primary or secondary, and as sporadic or hereditary forms. Although the incidence of hyperparathyroidism has increased dramatically, the interpretation of the parathyroid pathology is still of considerable controversy and confusion. Over the past few years, multiple genetic abnormalities have been characterized in sporadic parathyroid tumors. A majority of secondary parathyroid hyperplasia have been shown to be of monoclonal origins by clonal analysis. The ret oncogene responsible for the pathogenesis of multiple endocrine neoplasia type 2 and multiple endocrine neoplasia (MEN) 1 gene for type 1 have been cloned in succession. Mutation of the calcium-sensing receptor gene has been identified to be thegenetic trigger of neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia. HRPT 2 gene designated for the syndrome of hereditary hyperparathyroidism and jaw tumors has recently been localized on the 1q21-23, and linkage analysis has established the presence of familial hyperparathyroidism as a distinct entity. These advances provide new insights for understanding the molecular pathology of various types of hyperparathyroidisms and allow us a precise differentiation among them. Based on the results of our study and those reported in literature, this article reviews the recent advances in the molecular basis of various hyperparathyroidisms.     

经典型霍奇金淋巴瘤发病机制的分子病理进展

霍奇金淋巴瘤(Hodgkin lymphoma,HL)是起源于淋巴组织的恶性肿瘤,占全部恶性淋巴瘤的8%.WHO淋巴造血组织分类[1]将HL分为结节性淋巴细胞为主型霍奇金淋巴瘤(NLPHL)和经典型霍奇金淋巴瘤(CHL)两大类,两者的肿瘤细胞分别称之为L&H(lymphocytic and/or histiocytic)细胞和HRS(Hodgkin and Reed-Sternberg)细胞.     

乳腺叶状肿瘤分子遗传学与分子病理学研究进展

乳腺叶状肿瘤(Breast phyllodes tumours,BPT)[1-2]是一种病理形态和临床表现颇具特征的纤维上皮混合性肿瘤.有些研究者力求从组织学和细胞学特征方面来预测手术后局部复发的可能,但这些形态学标准往往受主观因素影响较多.     

Recent advances in the histopathology and molecular pathology of carcinoma of the endometrium

Endometrial carcinoma is the commonest malignancy of the female genital tract. The pathogenesis is complex and at least three pathogenetic subtypes exist with different prognostic implications. The molecular events involved remain poorly defined but several genes are involved and mutations of tp53 , WAF1/CIP1, PTEN, bcl-2 and c -erb B -2 have been implicated. Although care is needed in interpreting the results, the majority of these mutations can be detected immunohistochemically and therefore have the potential to aid the pathologist and surgeon in assessing the prognosis of a tumour. However, for the time being, no molecular marker is as valuable in determining prognosis as conventional parameters such as tumour type, grade and vascular space involvement.     

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

Primary cilia have a broad tissue distribution and are present on most cell types in the human body. Until recently, they were considered to be redundant organelles, but progress over the past 5 years has led to an understanding of their role in normal mammalian development. The class of inherited disorders that involve aberrant ciliary function are known as ciliopathies, and although their range of severity can vary, they share some common and unexpected clinical phenotypes. The aim of this review is to assess recent insights into the structure, function and formation of primary cilia, and relate this to the pathology, molecular genetics and cell biology of the ciliopathies.