Noonan syndrome associated with neuroblastoma: a case report

Lopez-Miranda, B; Westra, Sjirk J.; Yazdani, Shahram; Boechat, M. Ines

doi:10.1007/s002470050140

Cited by 28 publications

(14 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Germline activating mutations in SHP2 cause Noonan syndrome [56], whereas somatic gain of function SHP2 mutations have been identified in several haematologic malignancies [57][58][59][60][61], most notably juvenile myelomonocytic leukaemia, and other types of cancers, including breast cancer [62], lung cancer, neuroblastoma, pilocytic astrocytoma, and medulloblastoma [63][64][65][66][67][68].…”

Section: Shp2 Dephosphorylates and Promotes Ras Activationmentioning

confidence: 99%

New structural and functional insight into the regulation of Ras

Kano¹,

Cook²,

Lee³

et al. 2016

Seminars in Cell & Developmental Biology

View full text Add to dashboard Cite

Section: Shp2 Dephosphorylates and Promotes Ras Activationmentioning

confidence: 99%

New structural and functional insight into the regulation of Ras

Kano¹,

Cook²,

Lee³

et al. 2016

Seminars in Cell & Developmental Biology

View full text Add to dashboard Cite

“…This includes Costello syndrome (HRAS gene), Noonan syndrome (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, MEK1, and RIT1 genes), neurofibromatosis type 1 (NF1), and others (90)(91)(92)(93)(94)(95)(96). Indeed, homozygous inactivation of the NF1 gene has been described in primary NBs (97,98), although the overall prevalence of NF1 mutations in NBs is very low.…”

Section: Rasopathiesmentioning

confidence: 99%

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Kamihara

Bourdeaut

Foulkes

et al. 2017

Clinical Cancer Research

184

137

View full text Add to dashboard Cite

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.

show abstract

“…It is worth mentioning that 4/60 NS patients are exceptional cases and already published because they developed solid tumors, i.e., embryonal rhabdomyosarcoma, subcutaneous granular cell tumors, pilocytic astrocytoma, and Sertoli tumors [1,10,19,32]. An increased risk of different types of malignancy, mainly hematologic, has been reported in patients with NS compared with the general population [8,20] while solid tumors are less frequent [23,25,29]. Thus, frequent follow-up of patients with typical clinical NS diagnosis, even with negative mutation analysis, is a prerequisite for tumor risk awareness, allowing for appropriate and successful management.…”

Section: Discussionmentioning

confidence: 96%

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

et al. 2011

View full text Add to dashboard Cite

Noonan syndrome (NS) is a common multiple congenital anomaly entity, the diagnosis of which, on clinical grounds, is based on a comprehensive scoring system in order to select patients for molecular confirmation. Our aim was to evaluate the phenotypic characteristics in the light of PTPN11 mutations. The study revealed 80 patients who were referred with initial indication of NS or Noonan-like syndrome (NLS) and further assessed by a clinical geneticist; 60/80 index patients, mean age 5.9 ± 5.3 years, fulfilled the NS criteria. Molecular analysis of PTPN11 gene (exons and their flanking regions) of the total population revealed mutations in 17/80 patients, all belonging in the group of the patients screened with the scoring system. All mutations were heterozygous missense changes, mostly clustering in exon 3 (8/17), followed by exons 13 (3/17), 8 (2/17), 7 (2/17), 2 (1/17) and 4 (1/17). We conclude that (a) most of our clinically diagnosed NS cases were sporadic (b) PTPN11 analysis should be limited to those fulfilling the relevant NS criteria (c) Cardiovascular evaluation should comprise all NS patients, while pulmonary stenosis, short stature, and thorax deformities prevailed among those with PTPN11 mutations.

show abstract

Noonan syndrome associated with neuroblastoma: a case report

Cited by 28 publications

References 8 publications

New structural and functional insight into the regulation of Ras

New structural and functional insight into the regulation of Ras

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

Contact Info

Product

Resources

About