Recent advances: Advances in the understanding of tuberous sclerosis

O'Callaghan, Finbar; Osborne, J. P.

doi:10.1136/adc.83.2.140

Cited by 36 publications

(18 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Among other clinical symptoms, such as skeletal sclerosis, epilepsy and mental retardation, TSC is characterised by multiple tumour manifestations in various organs, including the typical so-called adenoma sebaceum (angiofibroma) of the skin, giant cell astrocytoma, high-grade glioma, chordoma, glioneuronal hamartoma, angiomyolipoma and cysts of the kidneys, renal cell carcinoma, cardiac rhabdomyoma, retinal glioma and others [1][2][3]. An involvement of the lungs is uncommon (,1-3% of all patients in different series), but when present, pulmonary manifestation dominates the clinical course of the patient, with dyspnoea and fatigue as the cardinal symptoms [2,4,5].…”

Section: Discussionmentioning

confidence: 99%

Mediastinal angiomyolipomas in a male patient affected by tuberous sclerosis

Warth

Herpel²,

Schmähl³

et al. 2008

Eur Respir J

View full text Add to dashboard Cite

Classical angiomyolipomas are benign tumours composed of various tissues, including components of fat, abnormal blood vessels and smooth muscle cells. They are often found in association with tuberous sclerosis complex (TSC).The present study reports a male patient affected by TSC with intermittent, massive chylous pleural effusions, who developed recurrent mediastinal angiomyolipomas. The tumours were characterised via histological and immunohistochemical methods.Although angiomyolipomas frequently occur in the kidneys of TSC patients, this case is the first report of mediastinal angiomyolipomas associated with TSC.Besides lymphangioleiomyomatosis, this differential diagnosis has to be taken into account in the case of chylous pleural effusions and mediastinal masses in tuberous sclerosis complex patients.

show abstract

Section: Discussionmentioning

confidence: 99%

Mediastinal angiomyolipomas in a male patient affected by tuberous sclerosis

Warth

Herpel²,

Schmähl³

et al. 2008

Eur Respir J

View full text Add to dashboard Cite

show abstract

“…The incidence of TSC is estimated to be 1 in 6000 to 1 in 10,000 live birth [4]. The autosomal dominant pattern of TSC inheritance comes from a mutation in either the TSC1 or TSC2 gene [5] [6]. Both serve as tumor suppressors and inactivating mutations in either gene is associated with the formation of hamartomas [7].…”

Section: Introductionmentioning

confidence: 99%

“…Missense mutations in TSC2 which disrupt its ability to bind to TSC1 have been identified in TSC patients [ Renal problems have been observed in some sporadic patients as a relatively sever phenotype caused by a large deletion involving both TSC2 and PKD1 locus which is located 60bp downstream of TSC2 in a tail-to-tail orientation [6] [11].…”

Section: Introductionmentioning

confidence: 99%

TSC2 Deletions and Duplications: A Descriptive Study in Iranian Patients Affected with Tuberous Sclerosis

Ramandi¹,

Ghaderian²,

Toosi³

et al. 2014

AJMB

View full text Add to dashboard Cite

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by formation of benign tumors called hamartomas. Although the TSC is diagnosed based on clinical findings but approximately 85% of individuals who meet diagnostic criteria for TSC a mutation can be identified in TSC2 (69%) and TSC1 (31%). A review of mutation type in TSC1 & TSC2 genes reveals that deletion/duplication assay could be a good screening strategy as a first step in TSC molecular diagnosis. All 41 exons and 5' untranslated region of TSC2 gene in addition to adjacent PKD1 gene were screened for deletion/duplication in 81 patients DNA samples using multiplex ligation dependent probe amplification (MLPA) method. Deletion/duplication was found in 29 (35.8%) patients, including deletions in 26 (32.0%) patients and duplication in 3 (3.8%). Genotype/phenotype analysis, showed five patients with renal function impairment who have large deletions including PKD gene area. Approximately 65% of cases were sporadic, while the remaining have familial positive history. Deletions/duplications of TSC2 gene were seen in 35.8% of patients with TSC. So it could be concluded that MLPA is a useful testing strategy for molecular screening in sporadic forms of TSC patients. MLPA increased the detection of TSC mutations. MLPA is less expensive, quicker and more precise than direct sequencing and southern blot in the characterization of TSC deletions. This technique is recommended as a standard part of TSC clinical molecular diagnosis.

show abstract

“…Not all patients have this classic triad, however,and half of all patients are of normal intellect and a quarter do not have seizures 14 . Although facial angiofibromas are commonly described as the hamartomatous lesions of TS, hamartomas may involve virtually any organ.…”

mentioning

confidence: 99%