Frontiers of hormone research (series editor: A.B. Grossman), volume 28: genetic disorders of endocrine neoplasia

Abstract

This is a short multi-author monograph on the hereditary disorders of endocrine neoplasia. It comprises seven chapters, spanning 218 pages with 17 figures. There are two introductory chapters that briefly review the basic concepts of clinical and molecular cancer genetics and the principles of gene identification for the inherited cancer syndromes. These are followed by a further five chapters that attempt to cover in detail the clinical and molecular features of the multiple endocrine neoplasia syndromes: MEN1 and MEN2, Von Hippel-Lindau (VHL) disease and the hamartoma/lentiginosis syndromes. The references for each chapter are extensive and up to date for the year 2000. The text layout is clear and the indexing and crossreferencing to other sections is good. All but one of the contributors is based in North America and most have been directly involved in disease gene identification for these conditions. As expected for a multi-author book, there are significant variations in the quality of the contributions. I found the chapters on MEN1 and VHL particularly readable. This is not a book that will be of primary interest for novices to this field or for clinicians with a “passing interest”. For instance, we are informed that there are internationally agreed “operational criteria” for the diagnosis of Cowden’s syndrome (CS) but not what these criteria actually are. Later on in the same chapter, “CS” is also used as an abbreviation for Cushing’s syndrome during a discussion of the features of Carney’s syndrome. The clinical descriptions are also quite brief and opinions about management are sometimes too didactic. We are recommended that initial parathyroid surgery in MEN1 should extend to thymectomy and total parathyroidectomy, due to the small risk of thymic carcinoid, as well as that of supernumary parathyroid glands. This may well be the optimal approach but the authors give us no evidence to support their contention or discussion of the weaknesses of other strategies. A useful opportunity to illustrate some of the characteristic skin lesions (angiofibroma, lichen amyloidosis and various patterns of lentiginosis) found in these various conditions, some of which are rare, has also been missed.