Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome

Yoshida, Kazuki; Miyagawa, Masao; Kido, Teruhiko; Ide, Kana; Sano, Yoshifumi; Sugawara, Yumi; Takahata, Hiroyuki; Monden, Nobuya; Furuya, Mitsuko; Mochizuki, Takashi

doi:10.1155/2018/6265175

Cited by 11 publications

(11 citation statements)

References 21 publications

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“…A large variety of benign or malignant tumours, including parotid oncocytoma [110][111][112], rhabdomyoma [113], parathyroid adenoma [18], breast cancer and others [3,58], have occasionally been reported in BHD patients, but to date without established causal link with FLCN gene mutations. An initially suspected association between BHD and colorectal polyps or carcinoma [15] has not been confirmed in a series of 45 patients who underwent colonoscopic screening [62].…”

Section: Other Clinical Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.

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Section: Other Clinical Manifestationsmentioning

confidence: 99%

Birt–Hogg–Dubé syndrome

et al. 2020

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“…This is likely to be related to the small size of our cohort and relatively short period of follow-up. By comparison, parotid oncocytoma is a rare feature of BHD and has been reported in at least nine cases in other cohorts ( 22 – 25 ). Here, we report two individuals with BHD who were diagnosed with parotid oncocytoma, neither of whom experienced complication from the oncocytoma itself or its management.…”

Section: Discussionmentioning

confidence: 92%

Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

et al. 2021

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AimWe aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.MethodsAll identified patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-01/09/2019 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a clinical geneticist and then referred to an adult nephrologist. Baseline and incidental clinical variables were extracted and analysed.ResultsFifty-seven patients were identified (28 BHD, 29 HLRCC) with a median age of 47 years. The median and cumulative follow-up were 1 and 99 years, respectively. Baseline renal MRI occurred in 40/57 patients, and 33/57 had regular MRI as per the national guidelines (eviQ). Of 18/57 without baseline imaging, nine were yet to have imaging, seven were lost follow-up, and two patients had logistic difficulties. RCC was diagnosed in 11/57 patients: two of 28 with BHD were diagnosed with RCC aged 73 and 77, both prior to commencement of surveillance. Nine of 29 patients with HLRCC were diagnosed with RCC (one of 29 during surveillance at 47 years of age) and eight of 29 prior to commencement of surveillance (11–55 years). Amongst BHD patients, cutaneous fibrofolliculomas were noted in 15 patients, lung cysts were detected in seven patients, spontaneous pneumothoraces in five patients, and parotid oncocytoma in two of 28. Amongst those with HLRCC, cutaneous leiomyomas were noted in 19/29, cutaneous leiomyosarcoma diagnosed in one of 29, and uterine fibroids in 13 female patients.ConclusionEvidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incidental renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening, and RCC management. The success of this clinical model warrants consideration of undertaking longitudinal screening of BHD and HLRCC patients by nephrologists.

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“…On MRI, parotid oncocytomas have been described as T1 and T2 hypointense and hyperintense on diffusion-weighted imaging [6 , 36] . This distinguishes oncocytomas from pleomorphic adenomas, which tend to be T2 hyperintense with heterogeneous nodular enhancement and a T2 dark rim [37] .…”

Section: Discussionmentioning

confidence: 99%

“…[ 4 ] histologically identified microscopic renal oncocytic lesions in most patients with BHD, further postulating that these lesions may develop into renal cell cancers. Although renal oncocytomas have been frequently reported in association with BHD, parotid gland oncocytoma is rare [4] , with only 11 reported cases of BHD-associated parotid gland oncocytoma [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , and imaging analysis in only one case [6] . To date, there have been no known cases of BHD-associated parotid gland oncocytic carcinoma, for which the prognosis and treatment approach are drastically different compared to benign oncocytomas.…”

Section: Introductionmentioning

confidence: 99%