Tumeurs à cellules granuleuses multiples chez un enfant atteint d’un syndrome de Noonan compliqué de leucémie myélomonocytaire juvénile

Castagna, J.; Clerc, J.; Dupond, A.-S.; Laresche, C.

doi:10.1016/j.annder.2017.06.008

Cited by 8 publications

(5 citation statements)

References 19 publications

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“…The presence of multiple granular cell tumors has been associated with various syndromes, such as Noonan syndrome [31], neurofibromatosis type I [32] and LEOPARD syndrome [33]. A possible feature present in all three syndromes is an abnormal RAS/MAPK pathway but mutations of the PTPN11 [33] gene link LEOPARD and Noonan syndrome.…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal Granular Cell Tumor: The First Report of a Multifocal and Potentially Hereditary Case

Sigon,

Fusaro,

Monica

et al. 2024

Gastroenterology Insights

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Granular cell tumors (GCTs), also known as Abrikossoff tumors, are rare tumors that originate from Schwann cells that primarily localize in the tongue, skin and submucosal tissues and involve the gastrointestinal tract in 11% of cases. We present a case of a young woman who first presented to our center in 2018 for an EGDS to assess a thickening of the esophageal wall, seen on a CT. On that occasion, a diagnosis of Abrikossoff tumor was made. She underwent endoscopic resection with subsequent yearly follow-up without evidence of recurrence. Five years later, during a routine colonoscopy, we found numerous white submucosal formations in all of the explored tracts, with a histological examination compatible with GCTs. Her daughter presented with a white nodule on her tongue, also diagnosed as a GCT. Her daughter was also diagnosed with a GCT of the tongue a few months later. Our research represents a significant contribution to the field given that it presents the first documented case of a patient with multifocal gastrointestinal GCTs and suggests a potential hereditary component.

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Section: Discussionmentioning

confidence: 99%

Gastrointestinal Granular Cell Tumor: The First Report of a Multifocal and Potentially Hereditary Case

Sigon,

Fusaro,

Monica

et al. 2024

Gastroenterology Insights

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“…None of the analyzed cases reported the V-ATPase status, so we can only hypothesize on this point. Other isolated information derived from sequencing in GCTs has identified alterations in VEGFA [21], TERT promoter, in the PI3K pathway [46], and in the MAP-kinase pathway [46][47][48][49][50][51].…”

Section: Discussionmentioning

confidence: 99%

“…Some preclinical data support the hypothesis that these drugs could synergize with pazopanib in the context of GCTs. On the one hand, the fact that GCTs can be associated with Noonan or neurofibromatosis syndromes [48][49][50][51]57] could emphasize the relevance of RAS-MAP kinase pathway genes also in GCTs [47]. Additionally, the reported mutations in the BRD7 gene [23,58] or the positivity of phosphorylated histone H3 found by immunohistochemistry in GCTs [35,59] could suggest alterations in the histone acetylation mechanisms.…”

Section: Discussionmentioning

confidence: 99%

Antiangiogenics in Malignant Granular Cell Tumors: Review of the Literature

Torrado,

Camaño,

Hindi

et al. 2023

Cancers

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Granular cell tumors (GCT) represent 0.5% of all soft tissue sarcomas (STS), and when metastatic, they exhibit aggressive behavior and determine limited survival. Metastatic GCTs are relatively chemo-resistant; however, there is growing evidence of the benefit of using pazopanib and other targeted therapies in this histology. This is a review of the role of pazopanib and other targeted therapies in the treatment of GCTs, along with some insights on pathology and molecular biology described in GCTs. From 256 articles found in our search, 10 case-report articles met the inclusion criteria. Pazopanib was the most employed systemic therapy. The median reported time on therapy with pazopanib was seven months. Eight out of ten patients (80%) experienced disease control with pazopanib, while four out of ten (40%) patients achieved an objective RECIST response. Molecular studies suggested that antitumoral effects of pazopanib in GCT might be due to a loss-of-function of ATP6AP1/2 genes which consequently enhance signaling through several molecular pathways, such as SFKs, STAT5a/b, and PDGFR-β. Other reported targeted therapies for malignant GCTs included pazopanib in combination with crizotinib, which showed disease control for four months in one patient, and a PI3K inhibitor which achieved disease control for nine months in another patient. Dasatinib and megestrol were ineffective in two other different patients. Pazopanib has been demonstrated to be active in advanced GCTs and may be considered as a preferable treatment option.

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“…The presence of multiple granular cell tumors has been associated with syndromes, such as Noonan syndrome (32), neurofibromatosis type I (33), and LEOPARD syndrome (34). A possible feature present in all of the three syndromes is an abnormal RAS/MAPK pathway but mutations of PTPN11 (34)gene link LEOPARD and Noonan syndrome.…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal Granular Cell Tumor: The First Report of a Multifocal and Potentially Hereditary Case

Sigon,

Fusaro,

Monica

et al. 2023

Preprint

View full text Add to dashboard Cite

Granular cell tumors (GCTs), known also as Abrikossoff tumors, are rare tumors that originates from Schwann cells that primarily localize in the tongue, skin, and submucosal tissues and involve the gastrointestinal tract in 11% of cases. We present a case of a young woman who first presented to our centre in 2018, for an EGDS to assess a thickening of the esophageal wall, seen on a CT. In that occasion, a diagnosis of Abrikossoff tumor was made. She underwent endoscopic resection with subsequent yearly follow-up without evidence of recurrence. 5 Years later, on a routine colonoscopy, we found numerous white submucosal formations in all of the explored tracts, with a histological examination compatible with GCT. Her daughter presented with a white nodule on her tongue, also diagnosed as GCT. Her daughter was also diagnosed with GCT of the tongue a few months later.

show abstract

Tumeurs à cellules granuleuses multiples chez un enfant atteint d’un syndrome de Noonan compliqué de leucémie myélomonocytaire juvénile

Cited by 8 publications

References 19 publications

Gastrointestinal Granular Cell Tumor: The First Report of a Multifocal and Potentially Hereditary Case

Gastrointestinal Granular Cell Tumor: The First Report of a Multifocal and Potentially Hereditary Case

Antiangiogenics in Malignant Granular Cell Tumors: Review of the Literature

Gastrointestinal Granular Cell Tumor: The First Report of a Multifocal and Potentially Hereditary Case

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