Multiple cutaneous granular cell tumors and neurofibromatosis in childhood. A case report and review of the literature

Martin, R. W.

doi:10.1001/archderm.126.8.1051

Cited by 15 publications

(13 citation statements)

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“…However, the constitutional molecular lesion in these patients was not defined. Since Selmanowitz’s report, two cases of MGCT have been clinically diagnosed with NF1 (22, 23) and another two cases have been clinically diagnosed as NS (24, 25). The association of MGCT with LS, and the previous reports linking MGCT with other syndromes related to the Ras/MAP kinase pathway, led us to observe that many of the collated cases of MGCT associated with syndromic features (26, 27) also exhibited other phenotypic features shared by the neuro‐cardio‐facial‐cutaneous syndromes (28).…”

Section: Discussionmentioning

confidence: 92%

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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Section: Discussionmentioning

confidence: 92%

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

et al. 2009

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“…The tumor is usually benign, with only 1% to 2% being malignant. Local recurrence rates, however, can be high but are variable depending on the occurrence of the complete excision with negative margins (recurrence rate 2–8%) or positive margins (recurrence rate 21–50%) (2–4) and an infiltrative growth pattern (5). In addition to morphological heterogeneity, malignant tumors have characteristic histologic features.…”

Section: Discussionmentioning

confidence: 99%

Granular Cell Tumor of the Scrotum in a Child with Noonan Syndrome

Sidwell

Rouse

Owen

et al. 2008

Pediatric Dermatology

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Granular cell tumor is a rare neoplasm thought to be of neural origin, composed of cells with distinctive granular cytoplasm. Granular cell tumors most often arise on the tongue, but can occur at any body site, and therefore initial presentation to dermatologists is common. We report a granular cell tumor of the scrotum in a child with Noonan syndrome, known to have a mutation in the PTPN11 gene. No previous reports of granular cell tumor of the scrotum in a child are found. The tumor is usually benign; however, it can have a high local recurrence rate (variable between 2% and 50% dependent on whether initial excision is complete and on the occurrence of an infiltrative growth pattern) and therefore long-term follow-up is necessary. This case highlights the occurrence of granular cell tumor, a diagnosis not to be missed by the dermatologist. In addition, we postulate the possible role of PTPN11 mutations in the development of granular cell tumor.

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“…1,[8][9][10][11] There is also an association reported with neurofibromatosis type 1 and GCTs. 9,10 Diagnosis is established on histological examination. Histopathological investigations show a well-defined neoplasm with large oval cells with a finely eosinophilic granular cytoplasm and small dark nuclei.…”

Section: Discussionmentioning

confidence: 98%