Granular cell tumor in a PHTS patient with a novel germline <i>PTEN</i> mutation

Marchese, Cristiana; Montera, Mariapina; Torrini, Margherita; Goldoni, Francesca; Mareni, Cristina; Forni, Marco; Locatelli, Luca

doi:10.1002/ajmg.a.20179

Cited by 22 publications

(12 citation statements)

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“…In Cowden's disease patients with PTEN mutations, cataract is often diagnosed between childhood and middle age. In one case report, the patient was in good health up to the age of 16 years, when he presented with initial symptoms that included blurred vision, and underwent cataract surgery at age 28 (6). In a second case, a male child presenting with PHTS features was found to have cataract at 6 years of age, which was then corrected surgically (5).…”

Section: Figurementioning

confidence: 99%

“…Clinical presentation of Cowden's disease is complex, like other PHTS disorders, and covers a broad spectrum of health problems that often involve cancer and include abnormalities of the eye in approximately 13% of cases (4). Lens cataract is a common pathology among Cowden's disease patients with ocular involvement, and germline PTEN mutations have been confirmed in PHTS cases in which cataract is present (3)(4)(5)(6)(7). Although global Pten deletion in mice is lethal (8), many tissue-specific KO models have been generated to examine the role of Pten mutation and/or deletion in different types of cancers linked to PHTS (1).…”

Section: Introductionmentioning

confidence: 99%

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AKT activation promotes PTEN hamartoma tumor syndrome–associated cataract development

Sellitto¹,

Li²,

Gao³

et al. 2013

J. Clin. Invest.

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Mutations in the human phosphatase and tensin homolog (PTEN) gene cause PTEN hamartoma tumor syndrome (PHTS), which includes cataract development among its diverse clinical pathologies. Currently, it is not known whether cataract formation in PHTS patients is secondary to other systemic problems, or the result of the loss of a critical function of PTEN within the lens. We generated a mouse line with a lens-specific deletion of Pten (PTEN KO) and identified a regulatory function for PTEN in lens ion transport.

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Section: Figurementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

AKT activation promotes PTEN hamartoma tumor syndrome–associated cataract development

Sellitto¹,

Li²,

Gao³

et al. 2013

J. Clin. Invest.

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“…Height was below the 3rd centile, and weight was at the 15th centile. As MGCT have previously been reported in a patient with PTEN hamartoma tumor syndrome (PHTS) (20), germline analysis of PTEN was performed and was negative for mutations. Her eyes were normally set with minimal ptosis on the left.…”

Section: Case Reportmentioning

confidence: 99%

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

et al. 2009

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We report a patient with a clinical and molecular diagnosis of LEOPARD syndrome (LS) associated with multiple granular cell tumors (MGCT). Bidirectional sequencing of exons 7, 12, and 13 of the PTPN11 gene revealed the T468M missense mutation in exon 12. This mutation has been previously reported in patients with LS. To our knowledge, this is the first report of MGCT associated with molecularly characterized LS and provides the first molecular evidence linking granular cell tumors (GCT) to the Ras/mitogen-activated protein (MAP) kinase pathway. We propose that MGCT can be associated with LS. Analysis of GCT from this case tested negatively for loss of heterozygosity (LOH) at the PTPN11 and NF1 loci and did not show deletions of the PTEN gene. The absence of LOH of PTPN11 supports published functional data that T468M is a dominant-negative mutation.

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“…Fibrous papules of the face and neck can be found in families with different autosomal dominant tumor syndromes such as Birt-Hogg-Dubé syndrome, Cowden disease, Gardner syndrome and tuberous sclerosis [2][3][4] .…”

Section: Introductionmentioning

confidence: 99%