Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center

Temming, Petra; Arendt, Marina; Viehmann, Anja; Eisele, Lewin; Guin, Claudia H D Le; Schündeln, Michael M.; Biewald, Eva; Astrahantseff, Kathy; Wieland, Regina; Bornfeld, Norbert; Sauerwein, W.; Eggert, Angelika; Jöckel, Karl‐Heinz; Lohmann, Dietmar

doi:10.1002/pbc.26193

Cited by 111 publications

(94 citation statements)

References 47 publications

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“…A recent study demonstrated an increased risk of second cancers in the setting of EBRT plus chemotherapy (40-year cumulative incidence of 54.2% vs. 37.1% with EBRT alone; ref. 25). In contrast, brachytherapy did not change the incidence ratio of second cancers compared with enucleation or other focal treatments alone.…”

Section: Hereditary Rb: Introductionmentioning

confidence: 80%

“…The risk of second malignant neoplasms is about 20% in individuals with hereditary RB who have not received radiotherapy and substantially higher (40%-50%) in those that have been irradiated (19,25). We, therefore, recommend consideration of second primary tumor surveillance for all carriers of pathogenic RB1 germline mutations regardless of previous radiation.…”

Section: Second Malignant Neoplasms Among Rb1 Mutation Carriersmentioning

confidence: 99%

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Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

186

137

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Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li-Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.

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Section: Hereditary Rb: Introductionmentioning

confidence: 80%

Section: Second Malignant Neoplasms Among Rb1 Mutation Carriersmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

186

137

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“…In this cohort, four of the six patients that developed SPM were also treated with EBRT and the risk of SPM remained low in those treated with intravenous chemotherapy alone 20. Temming et al reported no significant difference in SPM development if treated with enucleation or focal therapy compared with systemic chemotherapy 18. Lastly, it is also well known from the retinoblastoma literature as well as paediatric cancer literature that alkylating agents and topoisomerase inhibitors increase the risk of secondary acute myeloid leukemia 5 7 11…”

Section: Discussionmentioning

confidence: 74%

Second primary malignancies in retinoblastoma patients treated with intra-arterial chemotherapy: the first 10 years

Habib¹,

Francis²,

Fabius³

et al. 2017

Br J Ophthalmol

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“…Osteosarcoma is the leading cause of death in RB survivors [136]. Receiving radiation therapy and systemic chemotherapy are important risk factors for developing osteosarcoma in RB patients [137]. …”

Section: Figurementioning

confidence: 99%

Osteosarcoma: Molecular Pathogenesis and iPSC Modeling

Lin

Jewell

Gingold

et al. 2017

Trends in Molecular Medicine

131

117

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Rare hereditary disorders provide unequivocal evidence of the importance of genes in human disease pathogenesis. Familial syndromes that predispose to osteosarcomagenesis are invaluable in understanding the underlying genetics of this malignancy. Recently, patient-derived pluripotent stem cells (iPSCs) have been successfully utilized to model Li-Fraumeni syndrome (LFS)-associated bone malignancy, demonstrating that iPSCs can serve as an in vitro disease model to elucidate osteosarcoma etiology. Here, we provide an overview of osteosarcoma predisposition syndromes and review recently established iPSC disease models for these familial syndromes. Merging molecular information gathered from these models with the current knowledge of osteosarcoma biology will help us gain a deeper understanding of the pathological mechanisms underlying osteosarcomagenesis and potentially aid in the development of future patient therapies.

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Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors: A report from the German reference center

Cited by 111 publications

References 47 publications

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Second primary malignancies in retinoblastoma patients treated with intra-arterial chemotherapy: the first 10 years

Osteosarcoma: Molecular Pathogenesis and iPSC Modeling

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