Recurrent multifocal adult rhabdomyoma in an elderly woman diagnosed with Birt-Hogg-Dubé syndrome: A case report.

Birt-Hogg-Dubé syndrome (BHD) is a rare inherited autosomal dominant condition caused by a mutation in the tumor suppressor gene FLCN. This mutation predisposes the carrier to multiple pulmonary cysts, recurrent pneumothorax, renal tumors and benign skin tumors. Since the first description of BHD, additional clinical signs have been added to the syndrome and a large variety of benign tumors, such as rhabdomyomas (RM), have been linked with the FLCN gene mutation. RMs are rare tumors derived from striated muscle. The adult extracardiac rhabdomyoma occurs mostly in elderly patients, with a male predominance. It is most often located in the head and neck area and it has a potential of recurrence. We report a case of recurrent multifocal ARM in the oral cavity, present in an elderly woman with BHD and treated surgically. This could add support to RMs being linked to BHD.

Spinal versus conventional fine needle for ultrasound-guided thyroid nodule biopsy: a protocol for a randomised clinical trial.

INTRODUCTION: Thyroid nodules are very common and constitute an increasing clinical challenge since improved imaging capabilities and utilisation have led to a higher number of incidental findings. Ultrasound-guided fine-needle aspiration biopsy (FNAB) is the standard diagnostic tool in the work-up of thyroid nodules suspected of malignancy. Non-diagnostic results remain common and require repeated FNAB, leading to increased costs and delayed treatment of thyroid diseases, including treatment of thyroid cancer. If cytological diagnoses cannot be achieved, surgery may be warranted, which may potentially lead to overtreatment. Optimisation of the FNAB procedure is therefore essential. Spinal needles with a stylet have been found to lead to fewer non-diagnostic results, but studies on the subject are few. METHODS: This is a multicentre, two-arm, randomised clinical trial. Adults with thyroid nodules suspected of malignancy will be included consecutively. A total of 350 patients will be assigned randomly 1:1 to have a FNAB with either a spinal (25G) or a conventional (25G) needle. The primary outcome is the rate of diagnostic cytological samples according to the Bethesda system. Secondary outcomes are patient-experienced pain, complication rate and sensitivity and specificity. CONCLUSIONS: This trial will explore whether FNAB from thyroid nodules employing spinal needles compared with conventional fine needles improves diagnostic results, thereby providing evidence-based recommendations for a future choice of the FNAB needle. Secondary outcomes are patient-experienced pain, complication rate and sensitivity and specificity. FUNDING: This trial received funding from Erik and Susanna Olesens Fond. The funding source had no influence on trial design, data collection, analysis or publication. CLINICALTRIALS: gov Identifier: NCT04879355. Registration date: 07032021; version: 29062022.