From Fungus haematodes to Retinoblastoma.

Retinoblastoma is probably the only disease which received 40 different names until its official terminology which was adopted by the medical community in 1926. The official record of retinoblastoma was reported in 1597 by Petrus Pawius (ca. 1564-1617). The development of pathology during the 19th century gave to opportunity to clarify the histological characteristics of the disease. Although in the past retinoblastoma was considered a fatal disease, nowadays with modern treatment the prognosis is better.

Retinoblastoma. Fifty years of progress. The LXXI Edward Jackson Memorial Lecture.

PURPOSE: To review the progress made in understanding the genetic basis, molecular pathology, and treatment of retinoblastoma since the previous Jackson lecture on the topic was published 50 years ago. DESIGN: Perspective based on personal experience and the literature. METHODS: The literature regarding retinoblastoma was reviewed since 1963. Advances in understanding the biology and treatment of retinoblastoma provided context through the author's clinical, pathologic, and research experiences. RESULTS: Retinoblastoma was first identified in the 1500s and defined as a unique clinicopathologic entity in 1809. Until the mid-1900s, knowledge advanced sporadically, with technological developments of ophthalmoscopy and light microscopy, and with the introduction of surgical enucleation, chemotherapy, and radiation therapy. During the last 50 years, research and treatment have progressed at an unprecedented rate owing to innovations in molecular biology and the development of targeted therapies. During this time period, the retinoblastoma gene was discovered; techniques for genetic testing for retinoblastoma were developed; and plaque brachytherapy, chemoreduction, intra-arterial chemotherapy, and intraocular injections of chemotherapeutic agents were successfully introduced. CONCLUSIONS: Nearly all patients with retinoblastoma in developed countries can now be cured of their primary cancer--a remarkable achievement for a childhood cancer that once was uniformly fatal. Much of this success is owed to deciphering the role of the Rb gene, and the benefits of targeted therapies, such as chemoreduction with consolidation as well as intra-arterial and intravitreal chemotherapies. Going forward, the main challenge will be ensuring that access to care is available for all children, particularly those in developing countries.

The accidental cancer geneticist: hilário de gouvêa and hereditary retinoblastoma.

In 1872 a Brazilian ophthalmologist performed an enucleation in a young boy with retinoblastoma. This boy survived and married a woman without any family history of cancer. The couple had two daughters with bilateral retinoblastoma also seen by the same ophthalmologist, Hilário de Gouvêa. This case became the first documented report of a family with retinoblastoma in more than one generation. Here we examine the life of de Gouvêa and his contribution which raised the possibility that cancer had a genetic basis. We discuss how de Gouvêa's mind had been prepared to realize the importance of this observation. We attempt to define the conditions that allowed not only his discovery, but also the report of the findings and a dogged pursuit for credit over many years in a country which had virtually no research tradition and was still grappling with its recent colonial history.

A personal sixty-year tour of genetics and medicine.

The past 60 years surely constitute a Golden Age for biomedical science, and for medical genetics in particular. A personal experience began with an encounter with inborn errors of metabolism, selection, and the incidences of hereditary diseases, and peaked with molecular biology, virology, and cytogenetics, finally focusing all three on the problem of cancer.

[Centenary of the first radiotherapy treatment of retinoblastoma (Hilgartner, 1903)]. / 100e anniversaire du premier traitement d'un rétinoblastome par irradiation (Hilgartner, 1903).

One hundred years ago, Hilgartner used external radiotherapy for the first time in the treatment of retinoblastoma. This first case was published in the Texas Medical Journal in 1903. Immediate results were reported to be excellent but the long-term outcome was not known. The first documented cure of retinoblastoma over a long period of time was a case initially treated by Verhoeff (Boston) in 1917, with histopathological findings provided 71 years later by Marcus et al. at the patient's death. Henry Louis Hilgartner was born in 1868 in Baltimore and died in 1937 at the age of 69. His revolutionary treatment developed from the discovery of X-rays in 1895 by Wilhelm Conrad Röntgen and the parallel discovery of radioactivity by Henri Bequerel and Marie and Pierre Curie. In the sociopolitical context of 1903, Emile Loubet was president of France and this same year saw the Wright brothers' first motorized flight with the first power-driven heavier-than-air machine. The development of radiotherapy in the treatment of retinoblastoma can be divided into three distinct periods: an initial period of trial and error lasting from 1903 to 1928; a second period from 1929 to 1948 covering the introduction of calibrated radon needles up to the advent of external radiotherapy, and a third period, from 1948 to the present day, which can be considered a time of technical improvement and innovation. One hundred years ago, radiotherapy made a triumphant entry on the scene of retinoblastoma management. With our present knowledge of its side effects, we are now trying to remove it.

Pieter Pauw's tumor oculorum: reappraisal of the presumed first description of retinoblastoma in 1597.

Cancer in a young child is unusual and has always aroused curiosity. Proptosis and an enormous, rapidly growing unilateral tumor in a 3-year-old boy prompted Pieter Pauw (1564-1617), a 16th-century anatomist, to perform an autopsy. His published notes from the autopsy were rediscovered in the 19th century, first by the German ophthalmologist and historian Julius Hirschberg and then by Edwin B. Dunphy, from Boston, Mass, who suggested that the child suffered from retinoblastoma, an interpretation that has held sway. Critical translation of the original Latin text suggests that an orbital tumor, such as embryonal rhabdomyosarcoma, would equally well explain Pauw's observations. His description also gives insight into the concept of a mole as a congenital as well as an intrauterine tumor in Renaissance medicine.

The golden age of retinal cell culture.

In the late 1950s, the study of retinal cells in vitro was in its infancy. Today, retinal cell and tissue culture is routinely used for studies of cell growth, differentiation, cytotoxicity, gene expression, and cell death. This review discusses the major classifications of retinal cell and tissue culture, including primary cell/explant models, retinoblastoma cell lines, and genetically engineered cell lines. These topics are addressed in an historical perspective, coupled with present-day applications for this continually-developing technology.

[History of retinoblastoma]. / Pohled do historie retinoblastomu.

The author presents a brief account on the development of knowledge regarding the clinical picture, diagnosis, dynamics of the disease, surgical and conservative therapy of the most serious intraocular malignity of child age. He emphasizes the contribution made by different authors, starting in 1597 when Pawius published the first account of an autopsy of a child affected with the tumour. He emphasizes the biological importance, the affection of the optic nerve by the tumour, the vital importance of early enucleation, the importance of distant resection of the optic nerve during removal of the eye and the importance and contribution of conservative treatment for the vital perspective of affected children.