A De Novo Mutation in TSC2 Gene is Associated with Tuberous Sclerosis Complex (TSC): A Case Report

Bladder perivascular epithelioid cell tumours (PEComas) associated with tuberous sclerosis complex (TSC) are rare, with only one other case report in the literature to date. We present our case of a bladder PEComa in a young adult female with TSC arising de novo. Histopathology showed features in keeping with an angiomyolipoma and confirmatory immunohistochemical stains were positive for both melanocytic and smooth muscle markers. She was well at the 6-month follow-up post-surgical resection. Given the rarity of such lesions in the bladder, we discuss the diagnostic and prognostic challenges, clinical implications and a brief review of the literature to date.

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Tuberous Sclerosis Complex : A Case Report

Saintika Medika ◽

10.22219/sm.vol15.smumm2.9935 ◽

2019 ◽

Vol 15 (2) ◽

pp. 127

Author(s):

Aunur Rofiq ◽

Lita Setyowati ◽

Aninda Fitri Nugrahani

Keyword(s):

Mental Retardation ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Skin Color ◽

De Novo ◽

Suppressor Gene ◽

Consensus Conference ◽

De Novo Mutation ◽

Neurocutaneous Disorder ◽

Clinical Diagnostic Criteria

Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited neurocutaneous disorder. Tuberous Sclerosis Complex is caused by mutations in tumor suppressor gene (TSC), both TSC1 and TSC2. In approximately two-thirds of cases neither parent has signs of TSC and the disease is caused by a de novo mutation. Tuberous Sclerosis Complex is classically identified by the Vort's triad in the presence of angiofibroma, mental retardation, and epilepsy. A 17-year-old woman with a major complaint of a facial bump that appeared at birth and got bigger when she reached puberty. There are white patches on the patient's body from birth. On the scalp obtained the presence of skin color plaque, while at the back and right knee obtained shagreen patch. Patientwas diagnosed with epilepsy and mental retardation by the pediatric department. No family history has the same complaints as patient. Histopathologic examination of facial bumps taken by shaving biopsy suggests the presence of hemangiomas. Based on the clinical diagnostic criteria from International Tuberous Sclerosis Complex Consensus Conference 2012, the patient meets two major criteria, macular hypopigmentation and shagreen patch so it is included in "definite diagnosis".

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Renal Manifestations of Tuberous Sclerosis Complex

Journal of Kidney Cancer and VHL ◽

10.15586/jkcvhl.v7i3.131 ◽

2020 ◽

Vol 7 (3) ◽

pp. 5-19

Author(s):

Nikhil Nair ◽

Ronith Chakraborty ◽

Zubin Mahajan ◽

Aditya Sharma ◽

Sidarth Sethi ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Gene Disruption ◽

Treatment Guidelines ◽

Renal Cysts ◽

Skin Lesions ◽

Multiple Organ ◽

Tsc2 Gene ◽

Genetic Condition ◽

Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

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The lungs in tuberous sclerosis complex: a case report

West Indian Medical Journal ◽

10.1590/s0043-31442007000200014 ◽

2007 ◽

Vol 56 (2) ◽

Author(s):

NC Iheonunekwu ◽

TM Ibrahim ◽

BD Crosdale ◽

RH Gangappa

Keyword(s):

Case Report ◽

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex

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A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Human Genome Variation ◽

10.1038/s41439-020-00124-8 ◽

2020 ◽

Vol 7 (1) ◽

Author(s):

Saba Ahmad ◽

Luis Manon ◽

Gifty Bhat ◽

Jerry Machado ◽

Alice Zalan ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Cellular Differentiation ◽

Autosomal Dominant ◽

De Novo ◽

Autosomal Dominant Disease ◽

Sacrococcygeal Teratoma ◽

Dominant Disease ◽

The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

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