Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report

Wang, Lina; Ni, Dawei; Zhong, Lin; Wang, Jianbo

doi:10.3892/ol.2017.7165

Cited by 7 publications

(6 citation statements)

References 41 publications

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“…Though no obvious mutation hot spots were observed, mutations were identified more often in exon 8, 15 of TSC1 gene and exon 34, 36, 40 and 41 of TSC2 gene (GAP-related and Rabaptin binding domains) among the cohorts in China (Fig. 3B & C) [30][31][32][33][34]. Nevertheless, using both direct sequencing and MLPA, there were still left with a set of 14 (18.2%) patients in whom no mutation was identified.…”

Section: Discussionmentioning

confidence: 98%

Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes

Lin

Zeng

Zhao

et al. 2019

Seizure

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Tuberous sclerosis complex (TSC) is characterized by the development of hamartomas in multiple organ systems. This study attempted to screen mutations and to investigate the mutation distribution and related phenotypes including epilepsy of Chinese TSC patients. Methods: We performed the genotypic analysis of TSC1 and TSC2 genes in 77 unrelated Chinese TSC patients using direct Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA). Results: Mutations were identified in a total of 63 (81.8%) cases, including 18 TSC1 mutations (8 nonsense mutations, 6 frameshift, 1 in-frame shift, 1 missense and 2 splice-site) and 45 TSC2 mutations (13 missense, 3 nonsense, 6 splicing, 6 in-frame shift,12 frameshift mutations and 5 large deletions). Large deletions were presented exclusively in TSC2 gene, accounting for 7.9% of all mutations in this study. Fourteen novel mutations were identified in this study. Conclusions: Epilepsy occurs in approximately 75.3% (58/77) of patients. Hypomelanotic macules occurred significantly more often in patients with TSC2 mutations and cases with TSC1/TSC2 mutations had a significantly higher frequency of cortical nodule than patients with no mutations identified. Overall, our data expands the spectrum of mutations associated with the TSC loci and will be of value to the genetic counseling in patients with the disease.

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Section: Discussionmentioning

confidence: 98%

Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes

Lin

Zeng

Zhao

et al. 2019

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“…-So far, the question cannot be settled whether some cases of unilateral giant renal angiomyolipoma [59][60][61][62] may also reflect superimposed mosaicism, because a bilateral involvement is rather often reported. 63,64…”

Section: Extracutaneous Manifestations Of Superimposed Mosaicismmentioning

confidence: 99%

“…Moreover, unilateral overgrowth of a limb 17,58 and ‘diffuse’ lipomatosis involving a leg 15,46 or the thoracic wall 45 could also be categorized among the extracutaneous manifestations of this particular form of mosaicism. – So far, the question cannot be settled whether some cases of unilateral giant renal angiomyolipoma 59–62 may also reflect superimposed mosaicism, because a bilateral involvement is rather often reported 63,64 …”

Section: Extracutaneous Manifestations Of Superimposed Mosaicismmentioning

confidence: 99%

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called 'type 2 segmental mosaicism', but here we propose the short and unambiguous term 'superimposed mosaicism'. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental 'diffuse' lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch.-Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; 'radial migration lines' or 'cerebral white matter migration lines' as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg.-Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.

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“…Tumors >4 cm are more likely to grow and to develop micro- or macroaneurysms. 7 , 8 The primary reasons to intervene with renal AMLs are to alleviate symptoms of pain, mass effect, renal disease, and/or to prevent hemorrhage. Most patients with TSC will be diagnosed early in life, with renal MRI performed to determine the baseline renal status.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous rupture of two renal artery aneurysms in a patient with tuberous sclerosis complex

Pérez

Mulero-Soto

Schoene

et al. 2021

Journal of Vascular Surgery Cases, Innovations and Techniques

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Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous genetic condition. It is characterized by TSC-associated neuropsychiatric disorders, epilepsy, tumors, and angiomyolipoma in multiple organs, such as the skin, lungs, and kidneys. TSC is also associated with the development of aneurysms of the medium and large arteries, including the renal arteries. This condition will usually be diagnosed early in life, and active surveillance is required of tumor and aneurysm growth to prevent life-threatening events. We have presented the case of a 41-year-old patient with TSC that had not been previously diagnosed. The patient had presented with retroperitoneal hematoma secondary to the rupture of two left renal artery branch aneurysms that had likely developed within the angiomyolipoma.

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Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report

Cited by 7 publications

References 41 publications

Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes

Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Simultaneous rupture of two renal artery aneurysms in a patient with tuberous sclerosis complex

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