Insulinoma in tuberous sclerosis

Qahtani, Mohammed S. Al; Bojal, Shoukat Ahmad; Alqarzaie, Abdullah A.; alqahtani, Abdulaziz Abdulrahman nasser

doi:10.15537/smj.2021.42.3.20200490

Cited by 8 publications

(5 citation statements)

References 10 publications

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“…Given the young age of our patient, surgical resection of the 1.8 cm PNET was discussed and agreed upon with the patient. In Table 1 , PNET were surgically removed in 44 cases, of which only 12 cases were symptomatic, and clearly remains the standard for TSC-associated PNET management [ 15 – 18 , 27 , 28 , 30 , 34 , 35 , 37 – 43 , 46 – 51 ]. However, the use of mTOR inhibitors may be an option for those who prefer observation [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

Liu,

Lele,

Goodenberger

et al. 2024

BMC Med Genomics

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Background Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic disease that arises from TSC1 or TSC2 genetic mutations. These genetic mutations can induce the development of benign tumors in any organ system with significant clinical implications in morbidity and mortality. In rare instances, patients with TSC can have malignant tumors, including renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (PNET). It is considered a hereditary renal cancer syndrome despite the low incidence of RCC in TSC patients. TSC is typically diagnosed in prenatal and pediatric patients and frequently associated with neurocognitive disorders and seizures, which are often experienced early in life. However, penetrance and expressivity of TSC mutations are highly variable. Herein, we present a case report, with associated literature, to highlight that there exist undiagnosed adult patients with less penetrant features, whose clinical presentation may contain non-classical signs and symptoms, who have pathogenic TSC mutations. Case presentation A 31-year-old female with past medical history of leiomyomas status post myomectomy presented to the emergency department for a hemorrhagic adnexal cyst. Imaging incidentally identified a renal mass suspicious for RCC. Out of concern for hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome, the mass was surgically removed and confirmed as RCC. Discussion with medical genetics ascertained a family history of kidney cancer and nephrectomy procedures and a patient history of ungual fibromas on the toes. Genetic testing for hereditary kidney cancer revealed a 5’UTR deletion in the TSC1 gene, leading to a diagnosis of TSC. Following the diagnosis, dermatology found benign skin findings consistent with TSC. About six months after the incidental finding of RCC, a PNET in the pancreatic body/tail was incidentally found on chest CT imaging, which was removed and determined to be a well-differentiated PNET. Later, a brain MRI revealed two small cortical tubers, one in each frontal lobe, that were asymptomatic; the patient’s history and family history did not contain seizures or learning delays. The patient presently shows no evidence of recurrence or metastatic disease, and no additional malignant tumors have been identified. Conclusions To our knowledge, this is the first report in the literature of a TSC patient without a history of neurocognitive disorders with RCC and PNET, both independently rare occurrences in TSC. The patient had a strong family history of renal disease, including RCC, and had several other clinical manifestations of TSC, including skin and brain findings. The incidental finding and surgical removal of RCC prompted the genetic evaluation and diagnosis of TSC, leading to a comparably late diagnosis for this patient. Reporting the broad spectrum of disease for TSC, including more malignant phenotypes such as the one seen in our patient, can help healthcare providers better identify patients who need genetic evaluation and additional medical care.

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Section: Discussionmentioning

confidence: 99%

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

Liu,

Lele,

Goodenberger

et al. 2024

BMC Med Genomics

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“…I read, with interest, the article by Al Qahtani et al, 1 in which they presented an extremely rare association between tuberous sclerosis which is an autosomal dominant disease with multi-system disorders, and insulinoma which is a very rare but functioning tumor of the pancreas. The case was well-presented with a sufficient review of the relevant literature.…”

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confidence: 99%

“…This may confirm the important role of these new techniques in localization and characterization of the lesion and its proper management with a specific role of the intraoperative ultrasonography. 1,2 Previously, however, the sensitivity of imaging techniques was doubtful and the outcomes were disappointing. 3 Besides the very rare disease associations, this case was unique in that the patient had an interesting surgical history including laparoscopic total proctocolectomy for familial adenomatous polyposis, renal angioembolization for angiomyolipoma, and other endoscopic interventions.…”

mentioning

confidence: 99%

“…3 Besides the very rare disease associations, this case was unique in that the patient had an interesting surgical history including laparoscopic total proctocolectomy for familial adenomatous polyposis, renal angioembolization for angiomyolipoma, and other endoscopic interventions. 1 No doubt that these interventions added more risks to the original disease burden and complexed its course and management. The sequences of management of this patient provided an obvious example for the fact that early diagnosis enhances the proper and timely diagnostic and therapeutic interventions that could maximize the disease outcomes and patient's survival.…”

mentioning

confidence: 99%

“…From a practical perspective, this rare association between tuberous sclerosis and insulinoma should be considered in those patients, especially when they present with unexplained manifestations such as hypoglycemia or deteriorating neurocognitive symptoms. 1,4…”

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confidence: 99%

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