Dr. Arvid Lindau and discovery of von Hippel-Lindau disease

Abstract

Arvid Lindau, MD, PhD, consolidated the disparate array of benign and malignant visceral and nervous system lesions into the neoplastic syndrome known as von Hippel-Lindau (VHL) disease. Based on this pioneering work, Dr. Lindau was awarded both a Rockefeller fellowship to work in Dr. Harvey Cushing's laboratory in Boston, Massachusetts, and the Lennmalm Prize. While working in Dr. Cushing's laboratory, Dr. Lindau continued his study of CNS hemangioblastomas. His work with Dr. Cushing led to their lifelong friendship and scientific collaboration. In this paper the authors describe Arvid Lindau's pioneering work in nervous system tumor pathology, his relationship to Dr. Cushing, and his role in advancing neurological surgery and research in Europe.

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: History of the multiple endocrine neoplasia workshops and overview of MEN2019

“…E D Williams collated the clinical features of MEN 2B in 1966 (Williams & Pollock 1966). The ophthalmologic manifestations of von Hippel-Lindau disease were first reported by Eugen von Hippel, and the syndrome was more completely described by Arvid Lindau (Huntoon et al 2015). Carney complex was first fully characterized by J Aiden Carney in 1985 (Carney et al 1985), although earlier descriptions exist.…”

“…First, endocrine features dominated each of these clinical syndromes, but there were also non-endocrine manifestations. For example, the identification of angiofibromas, collagenomas, meningiomas, ependymomas, leiomyomas and lipomas in MEN 1 (Darling et al 1997); mucosal neuromas, skeletal abnormalities, gastrointestinal disorders (Rashid et al 1975), and cutaneous lichen amyloidosis in MEN2 (Gagel et al 1989); and renal cell carcinoma, pancreatic/renal cysts, endolymphatic sac tumours, and reproductive system cystadenomas in VHL broadened the clinical features of these syndromes (Huntoon et al 2015). It also became clear that, for each of these syndromes, there was a pattern of autosomal-dominant inheritance.…”

Anesthetic Management for Resection of a Cerebellar Hemangioblastoma Leading to Brainstem Compression in a Patient With Von Hippel-Lindau Disease

“…The initial classification into types 1 and 2 are entrenched on the risk (increased or decreased) of developing a pheochromocytoma [14]. Type 1 has a decreased risk for pheochromocytoma development while retinal and CNS hemangioblastomas, renal cell carcinomas, pancreatic cysts, and neuroendocrine tumors are other common clinical findings [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Furthermore, type 2 presents an increased risk of pheochromocytoma development, and its subtypes are associated with the risk of renal cell carcinoma development [1][2][3][4][5][6][7][8][9][10][11][12][13][14].…”

“…Type 1 has a decreased risk for pheochromocytoma development while retinal and CNS hemangioblastomas, renal cell carcinomas, pancreatic cysts, and neuroendocrine tumors are other common clinical findings [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Furthermore, type 2 presents an increased risk of pheochromocytoma development, and its subtypes are associated with the risk of renal cell carcinoma development [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. The subtype 2A presents a low risk of renal cell carcinoma, 2B shows a high risk of renal cell carcinomas, while subtype 2C only presents pheochromocytoma without any other tumor [1][2][3][4][5][6][7][8][9][10][11][12][13][14].…”

“…Furthermore, type 2 presents an increased risk of pheochromocytoma development, and its subtypes are associated with the risk of renal cell carcinoma development [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. The subtype 2A presents a low risk of renal cell carcinoma, 2B shows a high risk of renal cell carcinomas, while subtype 2C only presents pheochromocytoma without any other tumor [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Once the condition is diagnosed, multidisciplinary care reinforcing screening guidelines will lead to early detection of the disorder's clinical features and consequent reduction of morbidity and mortality rates [15].…”