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3.
Ophthalmol Retina ; 6(5): 411-420, 2022 05.
Article de Anglais | MEDLINE | ID: mdl-35007768

RÉSUMÉ

PURPOSE: To describe the clinical course and outcomes of aggressive retinal astrocytic hamartoma (RAH) treated with oral mechanistic target of rapamycin inhibitors (mTORis). DESIGN: A retrospective clinical case series. PARTICIPANTS: Five patients with genetically confirmed tuberous sclerosis complex and visually significant RAH due to tumor growth or exudation. METHODS: In this retrospective clinical case series, a review of electronic medical records was performed to determine baseline and follow-up ophthalmic examination characteristics, along with ancillary imaging findings, in patients receiving off-label treatment with either oral sirolimus or everolimus for symptomatic RAH. MAIN OUTCOME MEASURES: Visual acuity, change in tumor size, degree of exudation, and adverse effects of the mTORis were evaluated. RESULTS: The 5 patients in this series ranged in age from 8 months to 54 years. Four were treated with sirolimus, and 1 received everolimus. In all the cases, the tumor height was stable or decreased after the treatment (median follow-up duration, 39 months; range, 11-73 months). Exudation improved after the treatment in all the cases. In an 8-month-old infant, frequent upper respiratory tract infections prompted the cessation of treatment. In 1 patient, the mTORi was temporarily withheld because of elevated liver enzyme levels. No other significant adverse effects were noted. CONCLUSIONS: Sirolimus and everolimus should be considered in the management of vision-threatening RAH, particularly in the setting of exudative and rapidly growing tumors. Four of the 5 patients in this series tolerated the oral mTORi and continued with the therapy. There were no serious complications.


Sujet(s)
Hamartomes , Rétinopathies , Évérolimus/usage thérapeutique , Hamartomes/diagnostic , Hamartomes/traitement médicamenteux , Humains , Nourrisson , Rétinopathies/induit chimiquement , Études rétrospectives , Sirolimus/usage thérapeutique
5.
Indian J Ophthalmol ; 67(3): 433-435, 2019 03.
Article de Anglais | MEDLINE | ID: mdl-30777981

RÉSUMÉ

A 25-year-old man presented with decreased vision in the left eye with hypopigmented elevated subretinal lesion over the optic disk with abnormal vasculature, subretinal and retinal hemorrhages, and fluid in the macula. An area of high spike over the disk with corresponding orbital shadowing was seen on B scan ultrasonography. Fundus fluorescein angiography revealed abnormal vasculature. Systemic examination revealed facial angiofibroma, ashleaf spot, and dental pits with multiple cortical tubers on CT brain. Intravitreal injection of bevacizumab led to visual and tomographic improvement. Abnormal retinal vascularization and exudation in young individuals may be a presenting feature in tuberous sclerosis.


Sujet(s)
Hamartomes/diagnostic , Rétinopathies/diagnostic , Complexe de la sclérose tubéreuse/diagnostic , Adulte , Inhibiteurs de l'angiogenèse/administration et posologie , Bévacizumab/administration et posologie , Cortex cérébral/imagerie diagnostique , Angiographie fluorescéinique , Fond de l'oeil , Hamartomes/traitement médicamenteux , Hamartomes/étiologie , Humains , Injections intravitréennes , Mâle , Papille optique , Rétinopathies/traitement médicamenteux , Rétinopathies/étiologie , Tomographie par cohérence optique , Tomodensitométrie , Complexe de la sclérose tubéreuse/complications , Complexe de la sclérose tubéreuse/traitement médicamenteux , Acuité visuelle
6.
Indian J Ophthalmol ; 66(12): 1866-1868, 2018 Dec.
Article de Anglais | MEDLINE | ID: mdl-30451207

RÉSUMÉ

Combined hamartoma of retina and retinal pigment epithelium (CHRRPE) has been considered as a congenital benign entity with evidence of choroidal neovascularization membranes (CNVM) being associated with it in literature. This case series gives insight into the pathogenesis and the predisposing factors leading to CNVM formation in peripapillary CHRRPE using swept-source optical coherence tomography. In addition, lack of typical markers of CNVM (subretinal fluid/pigment epithelial detachment) in CHRRPE highlights the utility of optical coherence tomography angiography and the subtle optical coherence tomography findings such as "Bridge Sign" that could be instrumental in early diagnosis of CNVM in CHRRPE.


Sujet(s)
Néovascularisation choroïdienne/étiologie , Hamartomes/complications , Imagerie multimodale , Rétinopathies/complications , Épithélium pigmentaire de la rétine/anatomopathologie , Adulte , Inhibiteurs de l'angiogenèse/usage thérapeutique , Bévacizumab/usage thérapeutique , Néovascularisation choroïdienne/imagerie diagnostique , Néovascularisation choroïdienne/traitement médicamenteux , Femelle , Angiographie fluorescéinique , Hamartomes/imagerie diagnostique , Hamartomes/traitement médicamenteux , Humains , Injections intravitréennes , Mâle , Rétinopathies/imagerie diagnostique , Rétinopathies/traitement médicamenteux , Épithélium pigmentaire de la rétine/imagerie diagnostique , Études rétrospectives , Tomographie par cohérence optique , Facteur de croissance endothéliale vasculaire de type A/antagonistes et inhibiteurs , Jeune adulte
8.
Neuroendocrinology ; 106(3): 203-210, 2018.
Article de Anglais | MEDLINE | ID: mdl-28558376

RÉSUMÉ

BACKGROUND: Hypothalamic hamartoma (HH) represents the commonest cause of organic central precocious puberty (CPP). Follow-up of these patients in adulthood is scarce. OBJECTIVE: To describe the anthropometric, metabolic, and reproductive parameters of patients with CPP due to HH before and after treatment with gonadotropin-releasing hormone analog (GnRHa). METHODS: We performed a retrospective and cross-sectional study in a single tertiary center including 14 patients (7 females) with CPP due to HH. RESULTS: The mean duration of GnRHa treatment was 7.7 ± 2.4 years in boys and 7.9 ± 2.1 years in girls. GnRHa treatment was interrupted at the mean chronological age (CA) of 12.1 ± 1.1 years in boys and 10.7 ± 0.5 years in girls. At the last visit, the mean CA of the male and female patients was 21.5 ± 3.2 and 24 ± 3.9 years, respectively. Eleven of the 14 patients reached normal final height (FH) (standard deviation score -0.6 ± 0.9 for males and -0.6 ± 0.5 for females), all of them within the target height (TH) range. The remaining 3 patients had predicted height within the TH range. The mean body mass index and the percentage of body fat mass was significantly higher in females, with a higher prevalence of metabolic disorders. All patients presented normal gonadal function in adulthood, and 3 males fathered a child. CONCLUSION: All patients with CPP due to HH reached normal FH or near-FH. A higher prevalence of overweight/obesity and hypercholesterolemia was observed in the female patients. Finally, no reproductive disorder was identified in both sexes, indicating that HH per se has no deleterious effect on the gonadotropic axis in adulthood.


Sujet(s)
Hormone de libération des gonadotrophines/analogues et dérivés , Hamartomes/complications , Maladies hypothalamiques/complications , Puberté précoce/traitement médicamenteux , Puberté précoce/étiologie , Adiposité/effets des médicaments et des substances chimiques , Taille/effets des médicaments et des substances chimiques , Indice de masse corporelle , Études transversales , Femelle , Hormone de libération des gonadotrophines/usage thérapeutique , Hamartomes/traitement médicamenteux , Hamartomes/physiopathologie , Humains , Maladies hypothalamiques/traitement médicamenteux , Maladies hypothalamiques/physiopathologie , Études longitudinales , Mâle , Puberté précoce/physiopathologie , Reproduction/effets des médicaments et des substances chimiques , Études rétrospectives , Résultat thérapeutique , Jeune adulte
9.
Epilepsia ; 58 Suppl 2: 16-21, 2017 06.
Article de Anglais | MEDLINE | ID: mdl-28591485

RÉSUMÉ

Hypothalamic hamartoma may present with epilepsy, specifically gelastic or dacrystic seizures, or endocrine dysfunction, commonly precocious puberty. The epilepsy in many patients is drug resistant, and has a high association with progressive cognitive, learning and behavioral difficulty. Medical treatment of seizures remains problematic, with many resistant to drug treatment. Surgical resection, or disconnection of the hamartoma provides the optimal chance of seizure control but with a relatively high risk of endocrine dysfunction, the result of interference with the hypothalamic-pituitary axis in many. Careful assessment and monitoring by specialist centers with discussion of optimal intervention is required for individual cases.


Sujet(s)
Anticonvulsivants/usage thérapeutique , Épilepsie pharmacorésistante/traitement médicamenteux , Épilepsies partielles/traitement médicamenteux , Hamartomes/traitement médicamenteux , Maladies hypothalamiques/traitement médicamenteux , Adulte , Enfant , Troubles du comportement de l'enfant/diagnostic , Troubles du comportement de l'enfant/prévention et contrôle , Enfant d'âge préscolaire , Troubles de la cognition/diagnostic , Troubles de la cognition/prévention et contrôle , Diagnostic différentiel , Évolution de la maladie , Épilepsie pharmacorésistante/diagnostic , Électroencéphalographie , Maladies endocriniennes/diagnostic , Maladies endocriniennes/traitement médicamenteux , Épilepsies partielles/diagnostic , Hamartomes/diagnostic , Humains , Maladies hypothalamiques/diagnostic , Nourrisson , Nouveau-né , Imagerie par résonance magnétique , Mâle , Traitement du signal assisté par ordinateur
11.
Brain Dev ; 38(1): 145-8, 2016 Jan.
Article de Anglais | MEDLINE | ID: mdl-26028458

RÉSUMÉ

We report a male patient with hypothalamic hamartoma (HH) who manifested central precocious puberty (CPP) at 4 years of age. Gonadotropin-releasing hormone (GnRH) analogue treatment was started at 6 years of age and his pubertal signs were suppressed. At 9 years of age, the patient was emotionally unstable, aggressive, and antisocial. He had severe attention deficit hyperactivity disorder (ADHD)-like behavior and conduct disorder. No seizure activity was observed. GnRH analogue treatment was discontinued for 8 months from 9 years and 4 months of age due to his mother's illness. During this period sexual urges were observed. Treatment with daily methylphenidate markedly improved his behavioral problems. However, his sexual urges were not suppressed until 3 months after the GnRH analogue treatment was restarted. The present case is unique because the patient's behavioral problems were observed despite the parahypothalamic type of HH and absence of seizures. This case is also rare because behavioral problems were observed without seizures, and no ADHD cases with hamartoma have been reported previously. Recently, clinical studies have described an association between psychiatric morbidity, including ADHD, and hyperandrogenism disorders. Our patient's ADHD-like symptoms might be due to hyperandrogenism. In such cases, GnRH analogue with methylphenidate could be effective for improving ADHD-like symptoms.


Sujet(s)
Hamartomes/psychologie , Maladies hypothalamiques/psychologie , Trouble déficitaire de l'attention avec hyperactivité/psychologie , Encéphale/anatomopathologie , Stimulants du système nerveux central/usage thérapeutique , Enfant , Hamartomes/traitement médicamenteux , Hamartomes/anatomopathologie , Hamartomes/physiopathologie , Humains , Maladies hypothalamiques/traitement médicamenteux , Maladies hypothalamiques/anatomopathologie , Maladies hypothalamiques/physiopathologie , Mâle , Méthylphénidate/usage thérapeutique , Comportement sexuel/effets des médicaments et des substances chimiques
13.
J Fr Ophtalmol ; 38(2): 112-7, 2015 Feb.
Article de Français | MEDLINE | ID: mdl-25613469

RÉSUMÉ

INTRODUCTION: Neuromuscular hamartoma, also known as neuromuscular choristoma or benign triton tumor, is a rare benign tumor of well-differentiated striated muscle fibers mixed with peripheral nerve fibers. According to our research, this is the sixth case of benign triton tumor of the trigeminal nerve and the third case of isolated orbital location reported in the world literature. PURPOSE: To report a rare case of orbital neuromuscular hamartoma and discuss the role of corticosteroids in the treatment of these lesions for which surgical excision is often difficult. OBSERVATION: A 47-year-old woman, with a history of tuberculous lymphadenitis treated in 2006, presented with a clinical scenario of inflammatory orbitopathy without loss of visual acuity progressing over 20 days. MRI showed a lesion centered on the soft tissues of the infero-lateral right orbit. A biopsy was performed, showing neuromuscular hamartoma on histology. The patient was put on a tapering dose of corticosteroids with clear clinical and anatomical improvement. Orbital CT follow-up was obtained two months after discontinuation of treatment, confirming the disappearance of the tumor mass. CONCLUSION: Hamartoma of the orbit is a very rare entity and may clinically simulate malignant neoplasms; the diagnosis is histologic. Given the difficulties encountered in the resection of these tumors, we believe that corticosteroids might be proposed as an alternative treatment that could modulate inflammation and bring about regression or disappearance of the tumor.


Sujet(s)
Hormones corticosurrénaliennes/usage thérapeutique , Hamartomes/diagnostic , Hamartomes/traitement médicamenteux , Maladies de l'orbite/diagnostic , Maladies de l'orbite/traitement médicamenteux , Femelle , Humains , Imagerie par résonance magnétique , Adulte d'âge moyen , Maladies neuromusculaires/diagnostic , Maladies neuromusculaires/traitement médicamenteux
14.
Arch Soc Esp Oftalmol ; 90(2): 87-93, 2015 Feb.
Article de Espagnol | MEDLINE | ID: mdl-25499584

RÉSUMÉ

CASE REPORT: A 58 year-old female was diagnosed with a juxtapapillary combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE) in her left eye 14 years ago. Her visual acuity in that eye was 20/20. Recently, she came to our department with a sudden visual loss and metamorphopsis in her left eye. After performing funduscopy, angiography and OCT, she was diagnosed with choroidal neovascular membrane (CNVM) at lesion border, and started on antiangiogenic therapy. DISCUSSION: CHR-RPE, despite being a benign condition, may become complicated with severe visual impairment. Antiangiogenic therapy provides a good alternative to photodynamic therapy or laser photocoagulation for treatment of CNVM, avoiding adding iatrogenesis from these treatment to the complications associated with this pathology.


Sujet(s)
Inhibiteurs de l'angiogenèse/usage thérapeutique , Hamartomes/traitement médicamenteux , Ranibizumab/usage thérapeutique , Rétinopathies/traitement médicamenteux , Épithélium pigmentaire de la rétine , Facteur de croissance endothéliale vasculaire de type A/antagonistes et inhibiteurs , Femelle , Humains , Adulte d'âge moyen , Néovascularisation rétinienne
15.
Br J Oral Maxillofac Surg ; 52(4): 382-3, 2014 Apr.
Article de Anglais | MEDLINE | ID: mdl-24613100

RÉSUMÉ

Tetracyclines are used to treat a range of oral conditions. Their efficacy in the treatment of periodontitis is well established, and they are authoritatively recommended in the management of avulsed teeth. There is a growing evidence base to support the use of tetracycline to treat recurrent aphthous stomatitis, but its use in white spongy naevus is limited to a handful of case reports. The mechanism of action in these conditions is either unknown or indicated to be through the inhibition of matrix metalloproteinases (MMP). The use of a single agent to treat diverse oral conditions has important implications for oral medicine.


Sujet(s)
Antibactériens/usage thérapeutique , Inhibiteurs de métalloprotéinases matricielles/usage thérapeutique , Maladies de la bouche/traitement médicamenteux , Tétracycline/usage thérapeutique , Antibactériens/pharmacologie , Hamartomes/traitement médicamenteux , Humains , Inhibiteurs de métalloprotéinases matricielles/pharmacologie , Parodontite/traitement médicamenteux , Stomatite aphteuse/traitement médicamenteux , Tétracycline/pharmacologie , Extrusion dentaire/traitement médicamenteux
16.
PLoS One ; 9(2): e89467, 2014.
Article de Anglais | MEDLINE | ID: mdl-24558502

RÉSUMÉ

Fibrous papules of the face are hamartomas characterized by stellate-shaped stromal cells, multinucleated giant cells, and proliferative blood vessels in the dermis. The pathogenesis of fibrous papules remains unclear. There is a striking microscopic resemblance between fibrous papules and tuberous sclerosis complex (TSC)-associated angiofibromas. A germline mutation of the TSC1 or TSC2 gene, leading to activation of the mammalian target of rapamycin (mTOR) pathway, accounts for the pathogenesis of TSC-associated angiofibromas. Activated mTOR subsequently activates p70 ribosomal protein S6 kinase (p70S6K) and ribosomal protein S6 (S6) by phosphorylation. Rapamycin, a mTOR inhibitor, is effective in treating TSC-associated angiofibromas. The aim of this study was to understand whether the mTOR pathway is activated in fibrous papules. We studied immunoexpressions of phosphorylated (p-) mTOR effectors in fibrous papules, TSC-associated angiofibromas, and normal skin controls. P-mTOR, p-p70S6K and p-S6 were highly expressed in dermal stromal cells and epidermal keratinocytes in fibrous papules and TSC-associated angiofibromas but not in fibroblasts and epidermal keratinocytes of normal skin controls (p<0.001). The results suggest topical rapamycin may be a novel treatment option for fibrous papules.


Sujet(s)
Face/anatomopathologie , Hamartomes/anatomopathologie , Sérine-thréonine kinases TOR/métabolisme , Complexe de la sclérose tubéreuse/anatomopathologie , Angiofibrome/anatomopathologie , Activation enzymatique , Hamartomes/traitement médicamenteux , Humains , Immunohistochimie , Ribosomal Protein S6 Kinases, 70-kDa/métabolisme , Protéine-1 du complexe de la sclérose tubéreuse , Protéine-2 du complexe de la sclérose tubéreuse , Protéines suppresseurs de tumeurs/génétique
17.
J Neurosurg Pediatr ; 12(2): 151-4, 2013 Aug.
Article de Anglais | MEDLINE | ID: mdl-23746126

RÉSUMÉ

Hypothalamic hamartoma (HH) is a rare condition that often manifests as central precocious puberty (CPP). There is a lack of information available concerning the long-term effectiveness of surgery for the treatment of CPP due to HH. Here the authors describe 3 cases of CPP due to HH, with a follow-up ranging from 9 to 11 years after surgery. Three girls experienced breast growth and menses at 5-18 months of age and 5-36 months of age, respectively. Serum concentrations of luteinizing hormone, follicle-stimulating hormone, and estradiol concentrations ranged from 2.5 to 6.5 mIU/ml, 4.8-5.9 mIU/ml, and 47.9-133.0 pg/ml, respectively. Magnetic resonance imaging confirmed that CPP was caused by HH. Lesions were resected using a right pterional approach. After surgery, endocrine hormone concentrations were normalized, breasts shrunk, and menses ceased in each patient. Moreover, all of them subsequently developed normally and experienced age-appropriate onset of puberty. Each patient's height and weight were normal at the most recent follow-up (9-11 years after surgery), and none had experienced learning difficulties. Central precocious puberty due to HH can be successfully treated with resection. In the 3 cases presented, this approach was associated with both short- and long-term efficacy.


Sujet(s)
Gonadotrophines hypophysaires/sang , Hamartomes/complications , Hamartomes/chirurgie , Maladies hypothalamiques/complications , Maladies hypothalamiques/chirurgie , Puberté précoce/étiologie , Adolescent , Enfant , Enfant d'âge préscolaire , Oestradiol/sang , Femelle , Hormone folliculostimulante/sang , Études de suivi , Hormone de libération des gonadotrophines/agonistes , Hormone de libération des gonadotrophines/usage thérapeutique , Hamartomes/sang , Hamartomes/traitement médicamenteux , Humains , Maladies hypothalamiques/sang , Maladies hypothalamiques/traitement médicamenteux , Nourrisson , Hormone lutéinisante/sang , Imagerie par résonance magnétique , Puberté précoce/sang , Puberté précoce/traitement médicamenteux , Radiochirurgie , Maturation sexuelle , Résultat thérapeutique
18.
J Neurosurg Pediatr ; 11(6): 630-4, 2013 Jun.
Article de Anglais | MEDLINE | ID: mdl-23570442

RÉSUMÉ

Hypothalamic hamartomas (HHs) are benign lesions that are often associated with central precocious puberty and may present with gelastic seizures. Treatment modalities for HH include medical therapy with long-term gonadotropin-releasing hormone analogs or resection. The authors report the case of a 7-year-old girl who was diagnosed with an HH due to precocious puberty and was treated medically with a gonadotropin-releasing hormone analog for 3 years. Despite normalization of her plasma levels of luteinizing hormone, follicle-stimulating hormone, and estradiol and arrest of her precocious puberty, the patient developed progressive weight gain associated with extreme hyperphagia and morbid obesity by the age of 10 years. Her compulsive eating patterns were refractory to counseling and other interventions attempted by her parents and physicians. After resection of the HH, her hyperphagia resolved and her weight stabilized. To the authors' knowledge, this is the first report describing resection of an HH for the purpose of treating hyperphagia and obesity.


Sujet(s)
Hormone de libération des gonadotrophines/usage thérapeutique , Hamartomes/complications , Hamartomes/chirurgie , Hyperphagie/étiologie , Maladies hypothalamiques/complications , Maladies hypothalamiques/chirurgie , Procédures de neurochirurgie , Obésité morbide/étiologie , Marqueurs biologiques/sang , Enfant , Counseling directif , Épilepsies partielles/étiologie , Oestradiol/sang , Femelle , Hormone folliculostimulante/sang , Hormone de libération des gonadotrophines/analogues et dérivés , Hamartomes/sang , Hamartomes/diagnostic , Hamartomes/traitement médicamenteux , Humains , Hyperphagie/sang , Hyperphagie/complications , Maladies hypothalamiques/sang , Maladies hypothalamiques/diagnostic , Maladies hypothalamiques/traitement médicamenteux , Hormone lutéinisante/sang , Obésité morbide/sang , Puberté précoce/étiologie , Échec thérapeutique , Résultat thérapeutique
19.
Article de Anglais | MEDLINE | ID: mdl-23410814

RÉSUMÉ

Retinal astrocytic hamartoma or retinal astrocytoma is the best-known ocular manifestation of tuberous sclerosis complex, a neurocutaneous syndrome characterized by the development of multiple disseminated hamartomas. It can have several clinical presentations, ranging from unilateral transparent, noncalcified lesions to bilateral multinodular, mulberry-like calcified tumors. Symptoms appear if the tumor involves the macula and can cause visual loss on the basis of progressive retinal degeneration. The authors report a case of a patient with tuberous sclerosis, bilateral astrocytic hamartomas, and macular edema with intraretinal hemorrhage in the left eye that has responded well to treatment with bevacizumab and intravitreal triamcinolone acetonide.


Sujet(s)
Inhibiteurs de l'angiogenèse/usage thérapeutique , Anticorps monoclonaux humanisés/usage thérapeutique , Glucocorticoïdes/usage thérapeutique , Hamartomes/traitement médicamenteux , Oedème maculaire/traitement médicamenteux , Rétinopathies/traitement médicamenteux , Triamcinolone acétonide/usage thérapeutique , Complexe de la sclérose tubéreuse/traitement médicamenteux , Adolescent , Bévacizumab , Association de médicaments , Femelle , Angiographie fluorescéinique , Hamartomes/diagnostic , Humains , Injections intravitréennes , Oedème maculaire/diagnostic , Rétinopathies/diagnostic , Tomographie par cohérence optique , Complexe de la sclérose tubéreuse/diagnostic , Facteur de croissance endothéliale vasculaire de type A/antagonistes et inhibiteurs
20.
J Pediatr Hematol Oncol ; 35(1): e25-6, 2013 Jan.
Article de Anglais | MEDLINE | ID: mdl-22935658

RÉSUMÉ

We present a young patient with metastatic Ewing sarcoma that had hepatic lesions. As we were unaware of hepatic metastases in Ewing sarcoma, liver biopsy was performed. The pathologic findings were diagnostic of mesenchymal hamartoma of the liver. Surprisingly, the combined chemotherapy for metastatic sarcoma resulted in almost complete resolution of the hamartoma in the liver. This option may be useful in extreme cases when resection is not feasible.


Sujet(s)
Protocoles de polychimiothérapie antinéoplasique/usage thérapeutique , Tumeurs osseuses/diagnostic , Erreurs de diagnostic , Hamartomes/traitement médicamenteux , Tumeurs du foie/traitement médicamenteux , Mésoderme/anatomopathologie , Sarcome d'Ewing/diagnostic , Adulte , Cyclophosphamide/administration et posologie , Dactinomycine/administration et posologie , Doxorubicine/administration et posologie , Étoposide/administration et posologie , Femelle , Hamartomes/anatomopathologie , Humains , Ifosfamide/administration et posologie , Tumeurs du foie/secondaire , Pronostic , Vincristine/administration et posologie , Jeune adulte
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