Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

Genuardi, Maurizio; Klutz, Martina; Devriendt, Koen; Caruso, Daniela; Stirpe, Mario; Lohmann, Dietmar

doi:10.1038/sj.ejhg.5200694

Cited by 46 publications

(35 citation statements)

References 15 publications

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“…There were no specific symptoms and, in particular, no muscle weakness.The patient was heterozygous for the RB tumour suppressor gene (the family secreting a splice site mutation in the RB gene: g73 868 A>6). 15 There were no endocrinopathies in other family members.…”

Section: Case Reportmentioning

confidence: 99%

“…15 The RB gene is the protolyse for a class of recessive human cancer genes in which loss of activity of both normal alleles is thought to be associated with tumorogenesis. 41 The two-step mechanism of RB gene inactivation in RB, proposed by Knudsen,42 has been accorded almost universal acceptance as the general process by which tumour suppressor genes are affected in tumorogenesis.…”

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confidence: 99%

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A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene

Caliumi

Toma

Bossini

et al. 2004

J Renin Angiotensin Aldosterone Syst

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Various pathological disorders have been associated with primary aldosteronism, including glucagonoma, phaeochromocytoma and primary hyperparathyroidism.In this report, a case of adrenal myelolipoma (a rare non-functioning tumour composed of mature adipose tissue and normal haematopoietic elements similar to bone marrow cells), aldosterone-producing adenoma and a pituitary microadenoma coexisting in a 62-year-old man with a 15-year history of arterial hypertension, previous ablation of an autonomouslyfunctioning thyroid adenoma, multiple lipomas and an heterozygosity of the retinoblastoma (RB) susceptibility gene is reported.We believe that this case probably represents another variant of the multiple neoplasia syndrome and we speculate that structural alteration of the RB gene may play a role in the tumorogenesis.

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Section: Case Reportmentioning

confidence: 99%

mentioning

confidence: 99%

A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene

Caliumi

Toma

Bossini

et al. 2004

J Renin Angiotensin Aldosterone Syst

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“…Rieder et al (Rieder et al, 1998) www.intechopen.com Second Malignancies in Retinoblastoma: The Real Problem 25 futher promoted the idea that a predisposing RB1 gene mutation may play a role in the development of lipomas in retinoblastoma patients, by demonstrating the recurrent loss of the same RB1 allele in two different lipomas in the same patient. Others have reported a genetic linkage between a specific RB1 mutation and the development of multiple lipomas, postulating that there is a linked polymorphic allele which acts as a modifying factor by affecting expression of the RB1 gene mutation (Genuardi et al, 2001). These lipomas, when found in hereditary retinoblastoma patients, are preferentially located on the face, neck, shoulders, and upper chest (Genuardi et al, 2001).…”

Section: Benignmentioning

confidence: 99%

“…Others have reported a genetic linkage between a specific RB1 mutation and the development of multiple lipomas, postulating that there is a linked polymorphic allele which acts as a modifying factor by affecting expression of the RB1 gene mutation (Genuardi et al, 2001). These lipomas, when found in hereditary retinoblastoma patients, are preferentially located on the face, neck, shoulders, and upper chest (Genuardi et al, 2001). Li et al (Li et al, 1997) additionally, found twice as many patients with hereditary retinoblastoma and lipomas developed secondary malignancies when compared to those without lipomas.…”

Section: Benignmentioning

confidence: 99%

Second Malignancies in Retinoblastoma: The Real Problem

Williams¹,

Schefler²

2012

Retinoblastoma: An Update on Clinical, Genetic Counseling, Epidemiology and Molecular Tumor Biology

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“…In response to these data, Genuardi et al reported a mutation analysis of a two-generation pedigree with hereditary retinoblastoma and lipomatosis and found that there was no evidence for linkage of a polymorphic focus on chromosome 13q14. The authors hypothesized that an intragenic or extragenic modifying factor was instead responsible for the lipomatosis [50].…”

Section: Benign Second Tumorsmentioning

confidence: 99%

Genes and environment: effects on the development of second malignancies in retinoblastoma survivors

Schefler¹,

Kleinerman

Abramson³

2008

Expert Review of Ophthalmology

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Although it is a rare cancer, retinoblastoma has served as an important model in our understanding of genetic cancer syndromes. All patients with a germinal rb1 mutation possess a risk of the development of second malignancies. Approximately 40-50% of all retinoblastoma cases are considered germinal cases and recent work has indicated that nearly all retinoblastoma patients probably demonstrate a degree of mosaicism for the rb1 mutation, and thus are at risk of secondary malignancies. The risk of the development of these cancers continues throughout the patients' lives due to the loss of a functional RB1 protein and its critical tumor suppressive function in all cells. These cancers can develop in diverse anatomic locations, including the skull and long bones, soft tissues, nasal cavity, skin, orbit, brain, breast and lung. Treatments used for retinoblastoma such as external-beam radiation and chemotherapy can have a significant impact on the risk for and pattern of development of these secondary cancers. Second malignancies are the leading cause of death in germinal retinoblastoma survivors in the USA and thus continue to be an important subject of study in this patient population. Second malignancies following the germinal form of retinoblastoma are the subject of this review.Keywords cancer risk; external-beam radiation; germinal hereditary; pinealoblastoma; radiation-induced neoplasm; retinoblastoma; sarcoma; second malignancy; Survivor Epidemiology: incidence & survivalDuring the mid-20th Century, as treatment regimens for retinoblastoma improved, the number of survivors and their offspring began to increase. Treatment approaches for retinoblastoma in developed countries are now so effective that in the USA, Europe, and developed countries throughout the world, the leading cause of death among retinoblastoma survivors is not retinoblastoma itself, but second malignancies [1]. The incidence of second malignancies in survivors of retinoblastoma who carry the rb1 mutation has been reviewed extensively [1][2][3][4][5][6][7][8][9][10][11][12][13]. Cumulative incidence reports of second malignancies have varied, at least in part because of the wide range in design and population size of these reports. Most large studies with adequate long-term follow-up have reported incidence rates of approximately 0.5-1 % per year when a constant risk of cancer development per year of survival is calculated based on reported cumulative risk rates [1,3,7,10,14]. The study with †

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Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

Cited by 46 publications

References 15 publications

A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene

A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene

Second Malignancies in Retinoblastoma: The Real Problem

Genes and environment: effects on the development of second malignancies in retinoblastoma survivors

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