Congenital hemihypertrophy and malignant giant pheochromocytoma ? a previously undescribed coincidence

Schnakenburg, K. v.; Müller, Matthias; Dörner, Klaus; Harms, D.; Schwarze, E. W.; Grosse, F.; Wiedemann, H. R.

doi:10.1007/bf00481506

Cited by 20 publications

(14 citation statements)

References 20 publications

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“…BWS is characterized by pre-and postnatal overgrowth, developmental anomalies and susceptibility to embryonal tumours, particularly Wilms' tumour (Maher & Reik 2000). Interestingly, an association of phaeochromocytoma with BWS and isolated hemihypertrophy has been reported on several occasions (Schnakenburg et al 1976, Bemurat et al 2002, van den Akker et al 2002. An association between BWS and adrenocortical tumours is recognized and 11p15.5 abnormalities (e.g.…”

Section: Discussionmentioning

confidence: 99%

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

Margetts

Astuti²,

Gentle³

et al. 2005

Endocrine-Related Cancer

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Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations. However the somatic genetic and epigenetic events that occur in phaeochromocytoma tumourigenesis are not well defined. Epigenetic events including de novo promoter methylation of tumour-suppressor genes are frequent in many human neoplasms. As neuroblastoma and phaeochromocytoma are both neural-crest-derived tumours, we postulated that some epigenetic events might be implicated in both tumour types and wished to establish how somatic epigenetic alterations compared in VHL-associated and sporadic phaeochromocytomas. We identified frequent aberrant methylation of HIC1 (82%) and CASP8 (31%) in phaeochromocytoma, but both genes were significantly more methylated in VHL phaeochromocytomas than in sporadic cases. Of four tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) receptors analysed, DR4 was most commonly methylated (41%; compared with DcR2 (26%), DcR1 (23%) and DR5 (10%)). Gene methylation patterns in phaeochromocytoma and neuroblastoma did not differ significantly suggesting overlapping mechanisms of tumourigenesis. We also investigated the role of 11p15.5-imprinted genes in phaeochromocytoma. We found that in 10 sporadic and VHL phaeochromocytomas with 11p15.5 allele loss, the patterns of methylation of 11p15.5-differentially methylated regions were consistent with maternal, rather than, paternal chromosome loss in all cases (P<0.001). This suggests that 11p15.5-imprinted genes may be implicated in the pathogenesis of both familial (germline VHL and SDHD mutations) and sporadic phaeochromocytomas.

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Section: Discussionmentioning

confidence: 99%

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

Margetts

Astuti²,

Gentle³

et al. 2005

Endocrine-Related Cancer

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“…Several vascular malformations in usual locations have been reported in KTS, mainly involving the bladder [Hall, 1971;Klein and Kaplan, 1975;Jafri et al, 1983;Smith and Dixon, 1984; Cases before 1967 reviewed by Miller, 1967 and Other cases reported by Parker and Skalko, 1969;Geiser et al, 1970;Boxer and Smith, 1970;Haicken et al, 1973;Furukawa et al, 1973;Meadows et al, 1974;Pfister et al, 1975;Pendergrass, 1976;Janik and Seeler, 1976;Brantley and Simson, 1976;Schnakenburg et al, 1976;Sauer and Wemmer, 1977;Wood et al, 1977;Vergara and Svarch, 1977;Parra et al, 1977;Muller et al, 1978;Jurgenson et al, 1978;Kumar et al, 1978;Blesa et al, 1978;Sharma et al, 1979;Leblanc and Maggiore, 1979;Maurer et al, 1979;Mottu et al, 1981;Harris et al, 1981;Hennessy et al, 1981;Tolchin et al, 1982;Lack et al, 1982;Geormaneanu et al, 1983;Saypol andLaudone, 1983, Onyango, 1983;Nakagome et al, 1984;Bishop et al, 1985;Ruymann et al, 1988;Saracco et al, 1988;Tomooka et al, 1988;…”

Section: Klippel-trenaunay Syndromementioning

confidence: 95%

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina

2005

American J of Med Genetics Pt C

252

215

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Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.

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“…The only reference to a similar cases was a report in 1976 of a unilateral malignant pheochromocytoma complicating a congenital hemihypertrophy syndrome. 3 The Beckwith-Wiedemann syndrome is most often sporadic, but approximately 15% of cases are hereditary. Cytogenetic anomalies 4,5 involving chromosome 11p15 have been described in a few patients.…”

Section: Comments On the Association Of Beckwithwiedemann Syndrome Anmentioning

confidence: 99%

Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome

et al. 2002

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Congenital hemihypertrophy and malignant giant pheochromocytoma ? a previously undescribed coincidence

Cited by 20 publications

References 20 publications

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith-Wiedemann syndrome

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