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

Bémurat, L; Gosse, Philippe; Ballanger, P.; Tauzin-Fin, P.; Barat, Pascal; Lacombe, Didier; Lemétayer, P; Clémenty, Jacques

doi:10.1038/sj.jhh.1001378

Cited by 24 publications

(23 citation statements)

References 25 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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“…Finally, 11p15 patUPD is found in about 20 % of BWS patients and is associated with a relatively high tumor risk (10 %). Data concerning cancer risk in adults with BWS are scarce, with only a few tumors reported to date [10][11][12][13][14][15][16]. Whereas complete genome-wide paternal uniparental disomy is lethal in utero causing hydatiform mole, several imprinting disorders are produced by matUPD and patUPD localized to specific chromosomal domains.…”

Section: Genome-wide Paternal Uniparental Disomy As a Cause Of Beckwimentioning

confidence: 99%

Genome-Wide Paternal Uniparental Disomy as a Cause of Beckwith-Wiedemann Syndrome Associated with Recurrent Virilizing Adrenocortical Tumors

et al. 2014

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Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by fetal macrosomia, macroglossia, and abdominal wall defects. BWS patients are at risk to develop Wilms tumor, neuroblastoma, hepatoblastoma, and adrenal tumors. A young woman with BWS features, but with inconclusive genetic evidence for the disease, came to clinical observation for signs of virilization at the age of 16 years. An adrenocortical tumor was diagnosed and surgically resected. The tumor underwent 2 local relapses that were also surgically treated. The patient was also operated to remove a breast fibroadenoma. SNP arrays were used to analyze chromosome abnormalities in normal and tumor samples from the patient and her parents. The patient presented genome-wide mosaic paternal uniparental disomy (patUPD) both in the adrenocortical and the breast tumors, with different degrees of loss of heterozygosity (LOH). The more recent relapses of the adrenocortical tumor showed a loss of part of chromosome 17p that was absent in the first tumor. Analysis of a skin biopsy sample also showed mosaic patUPD with partial LOH, while no LOH was detected in leukocyte DNA. This case shows that virilizing adrenocortical tumors may be a clinical feature of patients with BWS. The SNP array technology is useful to diagnose genome-wide patUPD mosaicism in BWS patients with an inconclusive molecular diagnosis and underlines the tumorigenic potential of the absence of the maternal genome combined with an excess of the paternal genome.

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“…The first case described a 20-year-old female patient in whom BWS was diagnosed within a few days of birth from the association of hydramnios, omphalocele, right hemihypertrophy affecting the pelvis and upper and lower limbs, hepatomegaly, and episodes of hypoglycemia. The patient presented with high blood pressure and bilateral pheochromocytoma and was treated successfully with laparoscopic operation (14). In another case report, a 6-year-old boy with BWS presented with hypertension, tachycardia, and enlarged adrenal glands, and resection of the larger right adrenal gland revealed three nodular lesions histologically compatible with multifocal pheochromocytoma (5).…”

Section: Discussionmentioning

confidence: 98%

“…According to the literature, five cases describing the association of the syndrome with bilateral adrenal pheochromocytomas have been reported so far (5) (14) (15) (16) (17). The first case described a 20-year-old female patient in whom BWS was diagnosed within a few days of birth from the association of hydramnios, omphalocele, right hemihypertrophy affecting the pelvis and upper and lower limbs, hepatomegaly, and episodes of hypoglycemia.…”

Section: Discussionmentioning

confidence: 99%

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy

Pikilidou

Yavropoulou

Katsounaros

2014

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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SummaryWe report a case of a female with hemihypertrophy, who developed five recurrences of pheochromocytomas until the age of 35. Timely follow-up of the patient's blood pressure assisted in early diagnosis and treatment of recurrent tumors.Learning points Recurrent benign pheochromocytomas should raise suspicion of a genetic syndrome.A pheochromocytoma at a young age has a high propensity to recur and strict follow-up is mandatory.

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

Cited by 24 publications

References 25 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

Genome-Wide Paternal Uniparental Disomy as a Cause of Beckwith-Wiedemann Syndrome Associated with Recurrent Virilizing Adrenocortical Tumors

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy

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