Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma

Bah, Ismaël; Fahiminiya, Somayyeh; Bégin, Louis R.; Hamel, Nancy; D’Agostino, Maria Daniela; Tanguay, Simon; Foulkes, William D.

doi:10.1002/cjp2.104

Cited by 11 publications

(5 citation statements)

References 41 publications

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“…An atypical tuberous sclerosis complex phenotype was shown as familial renal cell carcinoma with leiomyomatous stroma. [ 17 ] Ocular coloboma was reported as an atypical ocular lesion in TSC. [ 18 ] These reports indicated that TSC patients may develop atypical symptoms in all organ systems.…”

Section: Discussionmentioning

confidence: 99%

An Atypical Cutaneous Symptom in Tuberous Sclerosis Complex

Zhang

Huang

2022

Indian Journal of Dermatology

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Section: Discussionmentioning

confidence: 99%

An Atypical Cutaneous Symptom in Tuberous Sclerosis Complex

Zhang

Huang

2022

Indian Journal of Dermatology

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“…The Bosniak classi cation system, created in 1986 [21] , established morphological CT criteria to differentiate between benign cysts and maliganat cysts. Studies have shown that Bosniak criteria combined with ultrasound can greatly improve the diagnostic of benign and malignant renal cystic lesions [22] . If the shape of the renal cyst found by ultrasound examination does not have the characteristics of a simple renal cyst and the boundary with the surrounding renal tissue is unclear, the inner wall is not smooth, or there are nodules and separation, which most likely cystic kidney cancer or a complex renal cyst.…”

Section: Discussionmentioning

confidence: 99%

Atypical Renal Cyst (Clear Cell Type)

Li¹,

Sun²,

Yuan³

et al. 2021

Preprint

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Background: Atypical cysts do not diagnostic criteria form classification as any of the variants of renal tumors, which have led to diagnostic difficulties. When these cysts have been encountered in surgical pathology practice it can be easily misdiagnosed as renal carcinoma and results in overtreatment. Case presentation: A 55-year-old Chinese woman with a right renal cystic mass came to our hospital. The computed tomography revealed bilateral cysts in both kidneys. In histology, the right renal cystic mass was arranged by stratified epithelium with short papillary projections and tufting. The covered epithelial cells were characterized by clear cytoplasm and small nuclei. Immunohistochemistry, these epithelial cells were diffusely positive for CK7, CK8, CK18, Vimentin and EMA, weakly positive for RCC and PAX-8, while diffusely negative for AMACR, CD10 and TFE-3. And the Ki-67 positive rate was 3%. Based on the immunohistochemical profile and histological features, the final diagnosis is an atypical renal cyst (clear cell type). The patient underwent right nephrectomy. The patient is alive and without any sign of subsequent renal cancer during 11 months of follow-up. Conclusion: Atypical renal cyst is extremely rare among the routine renal pathological diagnosis, we report this case to enhance the understanding and differential diagnosis of the atypical renal cyst and remind the pathologist of this precancerous lesion, and therefore, to avoid unnecessary or excessive treatment.

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“…Accurate diagnosis is sometimes difficult because there are similar imaging features among cystic renal cell carcinoma, conventional renal cell carcinoma with cystic changes and benign renal cystic diseases (17). Cystic small renal carcinoma is generally graded and screened by ultrasound or CT. Bosniak grading is mainly based on examination results of CT.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic value and clinical significance of ultrasound combined with CT in cystic renal cell carcinoma

et al. 2019

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This study investigated the value and clinical significance of ultrasound combined with CT in the diagnosis of cystic renal cell carcinoma. A total of 85 patients with cystic renal cell carcinoma, who were admitted to the Oncology Department of Yantai Yuhuangding Hospital Affiliated to Qingdao University from December 2015 to April 2017, were selected as the study group, and 70 patients with benign renal cyst, who were examined in Yantai Yuhuangding Hospital Affiliated to Qingdao University, were selected as the benign group. The patients in the two groups were examined by ultrasound and CT. The diagnostic value of ultrasound, CT, and ultrasound combined with CT in cystic renal cell carcinoma was analyzed. The sensitivity of ultrasound combined with CT was significantly higher than that of CT and ultrasound (P<0.05). The specificity and diagnostic coincidence rate of ultrasound combined with CT were significantly higher than those of CT (P<0.05). For unicapsular kidney cancer, there was no significant difference among ultrasound, CT and ultrasound combined with CT in the diagnosis of septum and wall nodule (P>0.05). For polycystic kidney cancer, there was no significant difference among ultrasound, CT and ultrasound combined with CT in the diagnosis of the presence or absence of septum (P>0.05). Ultrasound was significantly better than CT in cyst wall confounding (P<0.05). Ultrasound combined with CT was significantly better than ultrasound in calcification and blood supply of tumors (P<0.05). In conclusion, the accuracy of ultrasound combined with CT is higher than that of ultrasound or that of CT in the diagnosis of cystic renal cell carcinoma, which can be beneficial in accurately carrying out clinical diagnosis, reduce the incidence of missed diagnosis and misdiagnosis caused by a single diagnosis and treatment. Ultrasound combined with CT is good for clinical screening and can guide clinical symptomatic treatment, which is worthy of generalizing in clinic.

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Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma

Cited by 11 publications

References 41 publications

An Atypical Cutaneous Symptom in Tuberous Sclerosis Complex

An Atypical Cutaneous Symptom in Tuberous Sclerosis Complex

Atypical Renal Cyst (Clear Cell Type)

Diagnostic value and clinical significance of ultrasound combined with CT in cystic renal cell carcinoma

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