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Nature Jun 2018CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results... (Clinical Trial)
Clinical Trial
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS.
Topics: Adult; Animals; Child; Class I Phosphatidylinositol 3-Kinases; Disease Models, Animal; Female; HeLa Cells; Heart Failure; Humans; Lipoma; Male; Mice; Molecular Targeted Therapy; Musculoskeletal Abnormalities; Nevus; Phenotype; Scoliosis; Sirolimus; Syndrome; Thiazoles; Vascular Malformations; Vascular Neoplasms
PubMed: 29899452
DOI: 10.1038/s41586-018-0217-9 -
Frontiers in Genetics 2022Hepatoblastoma is a malignant embryonal tumor with multiple differentiation modes and is the clearest liver malignancy in children. However, little is known about... (Review)
Review
Hepatoblastoma is a malignant embryonal tumor with multiple differentiation modes and is the clearest liver malignancy in children. However, little is known about genetic and epigenetic events in Hepatoblastoma. Increased research has recently demonstrated, unique genetic and epigenetic events in Hepatoblastoma, providing insights into its origin and precise treatment. Some genetic disorders and congenital factors are associated with the risk of Hepatoblastoma development, such as the Beckwith-Wiedemann syndrome, Familial Adenomatous polyposis, and Hemihypertrophy. Epigenetic modifications such as DNA modifications, histone modifications, and non-coding RNA regulation are also essential in the development of Hepatoblastoma. Herein, we reviewed genetic and epigenetic events in Hepatoblastoma, focusing on the relationship between these events and cancer susceptibility, tumor growth, and prognosis. By deciphering the genetic and epigenetic associations in Hepatoblastoma, tumor pathogenesis can be clarified, and guide the development of new anti-cancer drugs and prevention strategies.
PubMed: 36531231
DOI: 10.3389/fgene.2022.1070971 -
Sudanese Journal of Paediatrics 2023Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth...
Russell-Silver syndrome, also called asymmetric dwarf dysgenesis syndrome is an uncommon genetic disorder presenting with low birth weight, failure to thrive and growth retardation (short stature), developmental delay, facial dysmorphism and hemihypertrophy. The estimated incidence is between 1 case in 3,000 to 1 case in 100,000. We are hereby reporting one such case of postnatal growth retardation with facial dysmorphism and several other features of Russell-Silver syndrome and confirmed by genetic analysis.
PubMed: 38380415
DOI: 10.24911/SJP.106-1668092616 -
Proceedings of the Royal Society of... 1908
PubMed: 19972767
DOI: No ID Found -
Diagnostics (Basel, Switzerland) Nov 2023Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The...
Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel-Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved.
PubMed: 37998536
DOI: 10.3390/diagnostics13223400 -
Journal of Postgraduate Medicine 1993A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous... (Review)
Review
A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.
Topics: Aftercare; Humans; Infant; Male; Proteus Syndrome
PubMed: 7996501
DOI: No ID Found -
Neurology India 2021
Topics: Cerebral Revascularization; Connective Tissue Diseases; Humans; Intracranial Aneurysm
PubMed: 34747857
DOI: 10.4103/0028-3886.329600