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

Schrader, Kasmintan A.; Nelson, Tanya N.; Luca, Alessandro De; Huntsman, DG; McGillivray, BC

doi:10.1111/j.1399-0004.2008.01100.x

Cited by 68 publications

(44 citation statements)

References 39 publications

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“…Although acute lymphoblastic leukemia [Laux et al, 2008], acute myeloid leukemia [Uçar et al, 2006] and multiple granular cell tumor [Schrader et al, 2009] have been reported in patients with LS and PTPN11 mutation, the association is inconclusive [Kratz et al, 2011]. In fact, single case reports in the literature or translating the knowledge gathered in NS to LS patients do not reliably document an increased risk of malignancy in LS patients.…”

Section: Tumorsmentioning

confidence: 90%

LEOPARD Syndrome: Clinical Features and Gene Mutations

Martínez‐Quintana

Rodríguez‐González

2012

Mol Syndromol

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The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations.

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Section: Tumorsmentioning

confidence: 90%

LEOPARD Syndrome: Clinical Features and Gene Mutations

Martínez‐Quintana

Rodríguez‐González

2012

Mol Syndromol

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“…Due to the rarity of malignant cases associated with LS, the association is inconclusive. However, acute lymphoblastic leukemia 15 , acute myeloid leukemia 16 , and multiple granular cell tumor 17 associated with LS with mutation in PTPN11 gene have been reported. Although predisposition of malignancy in LS remains debatable, LS patients with PTPN11 mutations should be closely monitored for malignancy, particularly during their childhood.…”

Section: Discussionmentioning

confidence: 99%

LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

Kim

et al. 2011

Ann Dermatol

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“…Familial cases of multiple lesions have been reported, thus raising the possibility that some patients may have a genetic disposition towards this condition. Of the rare familial involvements [4,9,24], none has been reported in the vulva. To our knowledge, this is the first reported case of GCT of the vulva in the same family.…”

Section: Discussionmentioning

confidence: 99%

“…They were first described by Virchow and Weber in 1854 and again in 1926 by Abrikossoff, who designated them as ‘granular cell myoblastomas’ to convey his impression of their muscular origin. Recently, Schrader et al [4] hypothesized a link between Ras/MAP kinase pathway and multiple GCTs.…”

Section: Introductionmentioning

confidence: 99%

Benign Granular Cell Tumor of the Vulva: First Report of Multiple Cases in a Family

Kardhashi

Deliso

Renna

et al. 2012

Gynecol Obstet Invest

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Granular cell tumors (GCTs) are uncommon soft tissue tumors of neural derivation, as supported by immunohistochemical and ultrastructural evidence. Vulvar involvement has been reported in 7–16%. This paper presents the cases of a 60-year-old woman and her 32-year-old niece with a strong family history of cancer, both presenting with an enlarging mass on their left labia majora. The lesions were treated by simple surgical excision. Histopathological examination revealed a benign vulvar GCT in both lesions. This is the first reported case of GCT of the vulva in the same family. The possible familial component of GCT needs further investigation. A systematic review of the literature on vulvar GCTs is carried out, the most complete one to date. This review unexpectedly reveals that there have been more than 130 cases of GCT of the vulva reported to date, only 7 of which were malignant. Since 5–25% of patients have multiple lesions, before planning treatment, clinicians should exclude multicentric lesions. After surgical treatment, if there is any evidence of tumor in the surgical margin, wider local excision should be performed. Regular follow-up is important for diagnosing a possible recurrence or a new lesion.

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

Cited by 68 publications

References 39 publications

LEOPARD Syndrome: Clinical Features and Gene Mutations

LEOPARD Syndrome: Clinical Features and Gene Mutations

LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

Benign Granular Cell Tumor of the Vulva: First Report of Multiple Cases in a Family

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