Atypical Granular Cell Tumor Occurring in an Individual with Noonan Syndrome Treated with Growth Hormone

Moos, Doreen; Droitcourt, Catherine; Ranchère-Vince, Dominique; Bérard, P; Skowron, F.

doi:10.1111/j.1525-1470.2011.01641.x

Cited by 13 publications

(11 citation statements)

References 14 publications

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“…A few reports mentioned cases of tumorigenesis (1 lymphoma and 1 skin tumor) in children treated with GH but these appeared too sporadically to conclude with confidence that they were caused by GH treatment [26,46]. Moreover, it must be taken into consideration that early cancer is more frequent in NS patients than in the general population [2,3].…”

Section: Potential Adverses Effects Of Gh Therapymentioning

confidence: 99%

Growth hormone and noonan syndrome: update in dysfunctional signaling aspects and in therapy for short stature

Raynal¹

2014

Horm Stud

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Short stature is a frequent feature of Noonan syndrome (NS), a disease caused by mutations of genes encoding components of the Ras/mitogen-activated protein kinases (MAPK) signalling pathway. To date numerous patients have been treated with growth hormone (GH) in various countries. However this treatment is still controversial, as its efficacy is a matter of debate. The final height gain of GH therapy represents 5 to 10 cm, at best, which is disappointing considering the length and burden of the treatment. The reasons explaining this lack of efficiency are poorly understood and they seemed to involve a waning effect after the first year of GH treatment or acceleration of bone maturation in patients on GH. Moreover, GH therapy raises questions about its safety, especially in subjects with NS who are at risk for cardiac defects and malignancies. Cases of severe adverse effects were described, yet too sporadically to conclude that they were certainly caused by GH therapy. Novels insights in understanding the dysfunction of GH-dependent processes in NS were recently reported and this manuscript aims at reviewing the latest advances. Clinical data suggested that growth retardation could be caused by a partial postreceptor resistance to GH, an impaired sensitivity to GH which could also explain the modest efficiency of GH therapy in NS patients. Similar observations were also obtained in a NS mouse model harboring a mutation in the gene encoding the tyrosine phosphatase Shp2. In the mouse, the mechanism of GH resistance is thought to involve upregulation by mutated Shp2 of GH-induced Ras/MAPK, a signaling pathway which seemed to play a negative regulatory role in the production of GH mediators involved in bone growth. Despite these recent finding, the underlying mechanisms of growth retardation and GH therapy in NS remain to be further explored in order to improve treatment for short stature.

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Section: Potential Adverses Effects Of Gh Therapymentioning

confidence: 99%

Growth hormone and noonan syndrome: update in dysfunctional signaling aspects and in therapy for short stature

Raynal¹

2014

Horm Stud

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“…These criteria have since been updated, and some authors believe the only unequivocal marker of malignancy is metastasis. To our knowledge, only two cases of atypical GCTs have been published in the pediatric literature , with no malignant GCTs reported in this population.…”

Section: Discussionmentioning

confidence: 91%

“…Granular cell tumor usually presents as an asymptomatic, slow‐growing, flesh‐colored to red solitary nodule, most commonly involving the head, neck, tongue, or vulva . In children, the most common locations are the extremities and the oral mucosa . Multiple lesions may occur in up to 25% of patients .…”

Section: Discussionmentioning

confidence: 99%

A Tumor on the Leg of a 2‐Year‐Old Girl

Hasbún

Schumacher

Sidiropoulos

et al. 2014

Pediatric Dermatology

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A 6-year-old girl presented with a 6-month history of two nodules on her right cheek. Her medical history was significant for a choledochal cyst that had been treated with surgical excision when she was 2 years old with no significant long-term sequelae. Physical examination revealed two nontender, firm nodules on her right cheek with a violaceous hue but otherwise no overlying surface change (Fig. 1). She also had several pink papules on her cheeks and chin. A punch biopsy was performed on one of the nodules (Fig. 2).

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“…An association between the symptoms of the 3 patients and colonic GCT of the mucosal layer is unlikely. Multiple GCTs in children may be indicative of neurofibromatosis ( 16 ), Noonan syndrome ( 17 ), growth retardation or Hodgkin's disease in remission ( 18 ). However, the statistical power is not sufficient due to the scarcity of cases.…”

Section: Discussionmentioning

confidence: 99%

Colonic granular cell tumor: Report of 11�cases and management with review of the literature

Chen

et al. 2018

Oncol Lett

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Colonic granular cell tumors (GCTs) are rare and benign, but have malignant potential. The recent progress in endoscopic procedures and technology facilitate the diagnosis and treatment of GCTs. The present study described 11 cases of colonic GCTs diagnosed between March 2010 and April 2015, including patient clinical and histopathological features. Patients were generally asymptomatic. The most common symptoms were hematoquezia and abdominal pain. The male/female ratio was 7:4; age range was 40–67 years. Colonoscopy revealed a yellowish or white, solid and well-circumscribed tumor covered by normal mucosa. Endoscopic ultrasonography (EUS) showed a homogenous, or granular-type heterogeneous, hypoechoic solid tumor originating from the submucosal layer (8 cases) or muscularis mucosae (3 cases), with maximum diameters 0.3–3.0 cm. All patients underwent endoscopic submucosal dissection or endoscopic submucosal excavation without complication. All tumors were block removed. The mean operative time was 38 min (range, 31–50 min). Immunohistochemical analysis of all specimens confirmed the diagnosis of GCT by positive staining of S-100 protein. No recurrence or metastasis was observed during follow-up periods of 11 months to 5 years. In conclusion, colonoscopy, EUS and immunohistological examination increase the accuracy of diagnosis of GCTs. Endoscopic management is feasible and safe for GCT treatment.

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Atypical Granular Cell Tumor Occurring in an Individual with Noonan Syndrome Treated with Growth Hormone

Cited by 13 publications

References 14 publications

Growth hormone and noonan syndrome: update in dysfunctional signaling aspects and in therapy for short stature

Growth hormone and noonan syndrome: update in dysfunctional signaling aspects and in therapy for short stature

A Tumor on the Leg of a 2‐Year‐Old Girl

Colonic granular cell tumor: Report of 11�cases and management with review of the literature

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