Purpose: Recently, familial paraganglioma (PGL) was shown to be caused by mutations in the gene e... more Purpose: Recently, familial paraganglioma (PGL) was shown to be caused by mutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL.
Identification at time of diagnosis of those vestibular schwannomas that will not grow. Retrospec... more Identification at time of diagnosis of those vestibular schwannomas that will not grow. Retrospective cohort study of consecutive patients diagnosed with a sporadic vestibular schwannoma that were entered in the wait-and-scan protocol. Academic referral centre. The study group contained 155 patients with a sporadic vestibular schwannoma first seen in the full 8-year period 2000-2007: continual wait-and-scan (n = 89) and initial wait-and-scan until intervention (n=66). Tumour growth, defined as more than 2 mm linear difference in any plane between the diagnostic MRI scan and the last available scan, was related to clinical parameters at diagnosis: localization of the tumour (solely intracanalicular versus cisternal extension), sudden sensorineural hearing loss, sensorineural hearing loss longer than 2 years and vertigo/instability. Hearing loss longer than 2 years and an entirely intracanalicular localization were associated with no tumour growth by univariate and multivariate Cox analysis. Combining both factors at time of diagnosis resulted in a group with low risk of growth (n=36, median follow-up of 6.2 years) with a Hazard Ratio for growth of 0.37 (95% CI, 0.19-0.69). This subgroup is about 25% of the wait-and-scan population. Thirty-one percent showed growth, while in the remaining higher risk group of 119 patients 62% showed growth. For the growing schwannomas the median time for growth becoming manifest is 1.9 years after diagnostic MRI. In this study on vestibular schwannoma patients that start in a wait-and-scan protocol, about a quarter may be set apart having a low risk for growth. These patients at diagnosis combine a history of F hearing loss longer than 2 years and a fully intracanalicular schwannoma. They appear not to need yearly MRI checks. This article is protected by copyright. All rights reserved.
PURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene en... more PURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients who developed parasympathetic PGLs
The Annals of Otology Rhinology and Laryngology, 1991
This study was performed to determine the area in which and the circumstances under which stapedo... more This study was performed to determine the area in which and the circumstances under which stapedotomy can be relatively safely performed. Measurements were made from central areas of the medial surface of the stapedial footplate to the utricle, the saccule, and the cochlear duct in 10 normal and 11 otosclerotic temporal bones. The mean distances to the utricle ranged from 1.9 to 2.4 mm, and those to the saccule from 1.7 to 2.1 mm. The minimal distance to the utricle was measured from the posterior (0.58 mm) and superior (0.62 mm) borders of the stapedial footplate. The minimal distances to the saccule were from the anterior (0.76, 0.86, and 1.00 mm) border of the stapedial footplate. All other measurements were of more than 1 mm. The shortest distance between the cochlear duct and the inferior border of the footplate was 0.2 mm. Statistical analysis has shown no significant differences for the mean values obtained in normal and otosclerotic temporal bones. Fathoming of the vestibule below the central and inferior thirds of the footplate surface has shown that there is no likely danger to the vestibular end organs or cochlear duct if manipulations are carried out no deeper than 1 mm below the surface. The safest place for a stapedotomy opening is in the central and inferior-central thirds of the footplate. A stapedotomy piston of 0.4 mm in diameter can be introduced relatively safely to a depth of 0.5 mm in the vestibule over the entire surface of the stapedial footplate.
Paragangliomashave neuroendocilnecharacteristics.We pre viouslydescribed successful in vivovisu@a... more Paragangliomashave neuroendocilnecharacteristics.We pre viouslydescribed successful in vivovisu@abonof vanoustu morsof neuroendociine originafterinjection oftheradiOlabeled somatostadn analogue octreotide. In this study, we report the results of
Clinical cancer research : an official journal of the American Association for Cancer Research, 2002
Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding su... more Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients who developed parasympathetic PGLs (n = 105 tumors) and who were treated between 1987 and 1999 at the Erasmus MC (Rotterdam, the Netherlands). Thirty-eight (67%) of these patients (n = 51 tumors) lacked a family history of parasympathetic PGL. We used conformation-dependent gel electrophoresis and sequence determination analysis of germ-line and tumor DNA to identify SDHD mutations. We compared the clinical and molecular characteristics of sporadic and hereditary PGLs. Three different SDHD germ-line mutations were identified in 32 of the 57 (56%) patients. These included 19 of 19 (100%) patients with ...
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2002
Electronically stored data may be used to generate feedback overviews. This paper describes a met... more Electronically stored data may be used to generate feedback overviews. This paper describes a method for establishing a picture of ear surgery complications. In this prospective study, the working definition of adverse events and complications is "incidents that are not intrinsic to the surgical procedure and that have a potential or actual negative effect on surgical outcome or postoperative morbidity". A simple method is used to categorise otologic adverse events and complications. This scale varies from adverse events (grade A) to death (grade D). All adverse events and complications in ear surgery that met this definition were documented electronically as part of continuous follow-up between 1 July 1992 and 30 June 1999. In the first 3 years, 1,009 ear operations were performed, and in 51 (5%) of them, adverse events or complications were noted during or after surgery. There were 30 (3%) grade A (adverse events), 18 (2%) grade B (minor complications), 3 (0.3%) grade C ...
The Annals of otology, rhinology, and laryngology, 1991
This study was performed to determine the area in which and the circumstances under which stapedo... more This study was performed to determine the area in which and the circumstances under which stapedotomy can be relatively safely performed. Measurements were made from central areas of the medial surface of the stapedial footplate to the utricle, the saccule, and the cochlear duct in 10 normal and 11 otosclerotic temporal bones. The mean distances to the utricle ranged from 1.9 to 2.4 mm, and those to the saccule from 1.7 to 2.1 mm. The minimal distance to the utricle was measured from the posterior (0.58 mm) and superior (0.62 mm) borders of the stapedial footplate. The minimal distances to the saccule were from the anterior (0.76, 0.86, and 1.00 mm) border of the stapedial footplate. All other measurements were of more than 1 mm. The shortest distance between the cochlear duct and the inferior border of the footplate was 0.2 mm. Statistical analysis has shown no significant differences for the mean values obtained in normal and otosclerotic temporal bones. Fathoming of the vestibule...
Preoperative embolization of paragangliomas (glomus tumors) is widely used to devascularize glomu... more Preoperative embolization of paragangliomas (glomus tumors) is widely used to devascularize glomus tumors in any location of the head and neck.1-10 The most commonly employed materials for embolization are Gelfoam and polyvinyl alcohol (PVA) foam. The use of Gelfoam is rather limited because of its rapid reabsorption rate. PVA (also known as Ivalon) is biocompatible, nonabsorbable, and, if used in microparticles of 200 to 500 ,m, causes effective tumor devascularization.4,5 Definitive thrombosis and hemorrhagic necrosis of several renal cortex arteries with no lysis or fragmentation of embolic material were found 7 days after embolization of renal arteries using PVA in dogs.1' Microscopic examination of human specimens removed after two fatalities, which occurred after embolization with PVA for symptomatic neonatal hepatic arteriovenous malformation,12 revealed in one case intravascular giant cell reaction, medial and adventitial hypertrophy, and recanalization of the vascular lumen. A review of the literature failed to reveal further histopathologic studies on embolic agents. Therefore, the surgical specimens and the clinical data of 45 patients embolized and operated on at the ENT Department of the University of Zurich for head and neck paragangliomas were reviewed. The aim of this study was to determine the histopathologic changes occurring in the tumors after embolization and to correlate these with the clinical data.
Assessment of the long-term results of surgery for temporal bone paragangliomas with special cons... more Assessment of the long-term results of surgery for temporal bone paragangliomas with special consideration of the patient's ability to cope with the functional deficits. Retrospective review of 36 patients who had undergone resection of a temporal bone paraganglioma 10 to 15 years previously. Assessment of the patients' subjective view of the functional outcome and quality of life by a questionnaire. Clinical records were reviewed regarding size of tumor, technique of surgery, supportive therapy, and tumor recurrence. Patients were sent a 50-item questionnaire evaluating their quality of life and the preoperative and postoperative function of cranial nerves VII through XII. A complete tumor removal was achieved in 30 patients (83%). There was only one tumor recurrence. The major negative effects of surgery involved hearing and dysphagia, which deterioriated in 14 and 12 patients, respectively. Thirty-five of the 36 patients (97%) reported that, despite deterioration, the cranial nerve deficits were still acceptable. Seventy-five percent of the patients regained their preoperative quality of life and 97% returned to their previous occupation in 1 to 2 years. The otologic extradural approach allowed complete tumor removal in 83%, with minimal perioperative morbidity. No surgically induced central nervous system lesions occured. Tracheostomy was avoided and all patients resumed oral feeding. Full rehabilitation after removal of class C and CD paragangliomas may take 1 to 2 years. However, the fact that 97% of the patients finally resumed normal social life showed the ability of most patients to cope with the sequelae of surgery even in class C and CD paragangliomas.
Endolymphatic sac tumors (ELSTs) are rare adenomatous tumors arising in the petrous bone, either ... more Endolymphatic sac tumors (ELSTs) are rare adenomatous tumors arising in the petrous bone, either spontaneously (isolated) or in association with von Hippel-Lindau (VHL) disease. For 9 patients, this study describes the typical features and management of ELST and the clinical outcome of treatment. Similarities and differences are identified for ELST in isolation and in association with VHL disease. Case series. Tertiary referral center. The patient database was searched for patients diagnosed with ELST. All other tertiary referral centers in The Netherlands were invited to do likewise. The patient records were screened for presenting symptoms, hearing, imaging, treatment, and treatment outcome. Histopathologic finding was reviewed by a senior pathologist. Six patients with an isolated ELST and 3 patients with an ELST in association with VHL disease were identified. In the isolated ELST group, 5 patients were treated surgically and 1 patient was administered primary radiotherapy. In the VHL group, 1 patient underwent surgery and 2 patients were treated conservatively after a wait-and-magnetic resonance imaging-scan protocol. All individual treatment outcomes are scrupulously presented in this article. This study compiles and describes 9 cases of ELST. In 8 of 9 patients, the ELST could be controlled by surgery, radiotherapy, or a wait-and-scan protocol. The large interpatient differences make it difficult to standardize the management of this disease. The management is strongly influenced by comorbidity and tumor stage.
like pheochromocytomas, arisefrom chromaffintissueand frequently cause symptoms by overproduction... more like pheochromocytomas, arisefrom chromaffintissueand frequently cause symptoms by overproduction of cate cholamines(1).
Purpose: Recently, familial paraganglioma (PGL) was shown to be caused by mutations in the gene e... more Purpose: Recently, familial paraganglioma (PGL) was shown to be caused by mutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL.
Identification at time of diagnosis of those vestibular schwannomas that will not grow. Retrospec... more Identification at time of diagnosis of those vestibular schwannomas that will not grow. Retrospective cohort study of consecutive patients diagnosed with a sporadic vestibular schwannoma that were entered in the wait-and-scan protocol. Academic referral centre. The study group contained 155 patients with a sporadic vestibular schwannoma first seen in the full 8-year period 2000-2007: continual wait-and-scan (n = 89) and initial wait-and-scan until intervention (n=66). Tumour growth, defined as more than 2 mm linear difference in any plane between the diagnostic MRI scan and the last available scan, was related to clinical parameters at diagnosis: localization of the tumour (solely intracanalicular versus cisternal extension), sudden sensorineural hearing loss, sensorineural hearing loss longer than 2 years and vertigo/instability. Hearing loss longer than 2 years and an entirely intracanalicular localization were associated with no tumour growth by univariate and multivariate Cox analysis. Combining both factors at time of diagnosis resulted in a group with low risk of growth (n=36, median follow-up of 6.2 years) with a Hazard Ratio for growth of 0.37 (95% CI, 0.19-0.69). This subgroup is about 25% of the wait-and-scan population. Thirty-one percent showed growth, while in the remaining higher risk group of 119 patients 62% showed growth. For the growing schwannomas the median time for growth becoming manifest is 1.9 years after diagnostic MRI. In this study on vestibular schwannoma patients that start in a wait-and-scan protocol, about a quarter may be set apart having a low risk for growth. These patients at diagnosis combine a history of F hearing loss longer than 2 years and a fully intracanalicular schwannoma. They appear not to need yearly MRI checks. This article is protected by copyright. All rights reserved.
PURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene en... more PURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients who developed parasympathetic PGLs
The Annals of Otology Rhinology and Laryngology, 1991
This study was performed to determine the area in which and the circumstances under which stapedo... more This study was performed to determine the area in which and the circumstances under which stapedotomy can be relatively safely performed. Measurements were made from central areas of the medial surface of the stapedial footplate to the utricle, the saccule, and the cochlear duct in 10 normal and 11 otosclerotic temporal bones. The mean distances to the utricle ranged from 1.9 to 2.4 mm, and those to the saccule from 1.7 to 2.1 mm. The minimal distance to the utricle was measured from the posterior (0.58 mm) and superior (0.62 mm) borders of the stapedial footplate. The minimal distances to the saccule were from the anterior (0.76, 0.86, and 1.00 mm) border of the stapedial footplate. All other measurements were of more than 1 mm. The shortest distance between the cochlear duct and the inferior border of the footplate was 0.2 mm. Statistical analysis has shown no significant differences for the mean values obtained in normal and otosclerotic temporal bones. Fathoming of the vestibule below the central and inferior thirds of the footplate surface has shown that there is no likely danger to the vestibular end organs or cochlear duct if manipulations are carried out no deeper than 1 mm below the surface. The safest place for a stapedotomy opening is in the central and inferior-central thirds of the footplate. A stapedotomy piston of 0.4 mm in diameter can be introduced relatively safely to a depth of 0.5 mm in the vestibule over the entire surface of the stapedial footplate.
Paragangliomashave neuroendocilnecharacteristics.We pre viouslydescribed successful in vivovisu@a... more Paragangliomashave neuroendocilnecharacteristics.We pre viouslydescribed successful in vivovisu@abonof vanoustu morsof neuroendociine originafterinjection oftheradiOlabeled somatostadn analogue octreotide. In this study, we report the results of
Clinical cancer research : an official journal of the American Association for Cancer Research, 2002
Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding su... more Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients who developed parasympathetic PGLs (n = 105 tumors) and who were treated between 1987 and 1999 at the Erasmus MC (Rotterdam, the Netherlands). Thirty-eight (67%) of these patients (n = 51 tumors) lacked a family history of parasympathetic PGL. We used conformation-dependent gel electrophoresis and sequence determination analysis of germ-line and tumor DNA to identify SDHD mutations. We compared the clinical and molecular characteristics of sporadic and hereditary PGLs. Three different SDHD germ-line mutations were identified in 32 of the 57 (56%) patients. These included 19 of 19 (100%) patients with ...
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 2002
Electronically stored data may be used to generate feedback overviews. This paper describes a met... more Electronically stored data may be used to generate feedback overviews. This paper describes a method for establishing a picture of ear surgery complications. In this prospective study, the working definition of adverse events and complications is "incidents that are not intrinsic to the surgical procedure and that have a potential or actual negative effect on surgical outcome or postoperative morbidity". A simple method is used to categorise otologic adverse events and complications. This scale varies from adverse events (grade A) to death (grade D). All adverse events and complications in ear surgery that met this definition were documented electronically as part of continuous follow-up between 1 July 1992 and 30 June 1999. In the first 3 years, 1,009 ear operations were performed, and in 51 (5%) of them, adverse events or complications were noted during or after surgery. There were 30 (3%) grade A (adverse events), 18 (2%) grade B (minor complications), 3 (0.3%) grade C ...
The Annals of otology, rhinology, and laryngology, 1991
This study was performed to determine the area in which and the circumstances under which stapedo... more This study was performed to determine the area in which and the circumstances under which stapedotomy can be relatively safely performed. Measurements were made from central areas of the medial surface of the stapedial footplate to the utricle, the saccule, and the cochlear duct in 10 normal and 11 otosclerotic temporal bones. The mean distances to the utricle ranged from 1.9 to 2.4 mm, and those to the saccule from 1.7 to 2.1 mm. The minimal distance to the utricle was measured from the posterior (0.58 mm) and superior (0.62 mm) borders of the stapedial footplate. The minimal distances to the saccule were from the anterior (0.76, 0.86, and 1.00 mm) border of the stapedial footplate. All other measurements were of more than 1 mm. The shortest distance between the cochlear duct and the inferior border of the footplate was 0.2 mm. Statistical analysis has shown no significant differences for the mean values obtained in normal and otosclerotic temporal bones. Fathoming of the vestibule...
Preoperative embolization of paragangliomas (glomus tumors) is widely used to devascularize glomu... more Preoperative embolization of paragangliomas (glomus tumors) is widely used to devascularize glomus tumors in any location of the head and neck.1-10 The most commonly employed materials for embolization are Gelfoam and polyvinyl alcohol (PVA) foam. The use of Gelfoam is rather limited because of its rapid reabsorption rate. PVA (also known as Ivalon) is biocompatible, nonabsorbable, and, if used in microparticles of 200 to 500 ,m, causes effective tumor devascularization.4,5 Definitive thrombosis and hemorrhagic necrosis of several renal cortex arteries with no lysis or fragmentation of embolic material were found 7 days after embolization of renal arteries using PVA in dogs.1' Microscopic examination of human specimens removed after two fatalities, which occurred after embolization with PVA for symptomatic neonatal hepatic arteriovenous malformation,12 revealed in one case intravascular giant cell reaction, medial and adventitial hypertrophy, and recanalization of the vascular lumen. A review of the literature failed to reveal further histopathologic studies on embolic agents. Therefore, the surgical specimens and the clinical data of 45 patients embolized and operated on at the ENT Department of the University of Zurich for head and neck paragangliomas were reviewed. The aim of this study was to determine the histopathologic changes occurring in the tumors after embolization and to correlate these with the clinical data.
Assessment of the long-term results of surgery for temporal bone paragangliomas with special cons... more Assessment of the long-term results of surgery for temporal bone paragangliomas with special consideration of the patient's ability to cope with the functional deficits. Retrospective review of 36 patients who had undergone resection of a temporal bone paraganglioma 10 to 15 years previously. Assessment of the patients' subjective view of the functional outcome and quality of life by a questionnaire. Clinical records were reviewed regarding size of tumor, technique of surgery, supportive therapy, and tumor recurrence. Patients were sent a 50-item questionnaire evaluating their quality of life and the preoperative and postoperative function of cranial nerves VII through XII. A complete tumor removal was achieved in 30 patients (83%). There was only one tumor recurrence. The major negative effects of surgery involved hearing and dysphagia, which deterioriated in 14 and 12 patients, respectively. Thirty-five of the 36 patients (97%) reported that, despite deterioration, the cranial nerve deficits were still acceptable. Seventy-five percent of the patients regained their preoperative quality of life and 97% returned to their previous occupation in 1 to 2 years. The otologic extradural approach allowed complete tumor removal in 83%, with minimal perioperative morbidity. No surgically induced central nervous system lesions occured. Tracheostomy was avoided and all patients resumed oral feeding. Full rehabilitation after removal of class C and CD paragangliomas may take 1 to 2 years. However, the fact that 97% of the patients finally resumed normal social life showed the ability of most patients to cope with the sequelae of surgery even in class C and CD paragangliomas.
Endolymphatic sac tumors (ELSTs) are rare adenomatous tumors arising in the petrous bone, either ... more Endolymphatic sac tumors (ELSTs) are rare adenomatous tumors arising in the petrous bone, either spontaneously (isolated) or in association with von Hippel-Lindau (VHL) disease. For 9 patients, this study describes the typical features and management of ELST and the clinical outcome of treatment. Similarities and differences are identified for ELST in isolation and in association with VHL disease. Case series. Tertiary referral center. The patient database was searched for patients diagnosed with ELST. All other tertiary referral centers in The Netherlands were invited to do likewise. The patient records were screened for presenting symptoms, hearing, imaging, treatment, and treatment outcome. Histopathologic finding was reviewed by a senior pathologist. Six patients with an isolated ELST and 3 patients with an ELST in association with VHL disease were identified. In the isolated ELST group, 5 patients were treated surgically and 1 patient was administered primary radiotherapy. In the VHL group, 1 patient underwent surgery and 2 patients were treated conservatively after a wait-and-magnetic resonance imaging-scan protocol. All individual treatment outcomes are scrupulously presented in this article. This study compiles and describes 9 cases of ELST. In 8 of 9 patients, the ELST could be controlled by surgery, radiotherapy, or a wait-and-scan protocol. The large interpatient differences make it difficult to standardize the management of this disease. The management is strongly influenced by comorbidity and tumor stage.
like pheochromocytomas, arisefrom chromaffintissueand frequently cause symptoms by overproduction... more like pheochromocytomas, arisefrom chromaffintissueand frequently cause symptoms by overproduction of cate cholamines(1).
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Papers by Bernard Pauw