Along with breast and endometrial cancers, thyroid cancer is a major component cancer in Cowden syndrome (CS). Germline variants in SDHB/C/D (SDHx) genes account for subsets of CS/CS-like cases, conferring a higher risk of breast and thyroid cancers over those with only germline PTEN mutations. To investigate if SDHx alterations at both germline and somatic levels occur in apparently sporadic breast cancer and differentiated thyroid cancer (DTC), we analyzed SDHx genes in following 4 groups: 1) 48 individuals with sporadic invasive breast adenocarcinoma for germline mutation; 2) 48 (expanded to 241) DTC for germline mutation; 3) 37 pairs DTC tumor-normal tissues for germline and somatic mutation and mRNA expression levels; and 4) 476 TCGA thyroid carcinoma dataset for validation. No germline SDHx variant was found in a pilot series of 48 breast cancer cases. Because germline SDHx variants were found in our pilot of 48 thyroid cancer cases, we expanded to 3 series of DTC comprising a total 754 cases, and found 48 (6%) with germline SDHx variants (p<0.001 compared to 0/350 controls). In 513 tumors, we found 27 (5%) with large somatic duplications within chromosome 1 encompassing SDHC. Both papillary and follicular thyroid tumors showed consistent loss of SDHC/D gene expression (p<0.001), which is associated with earlier disease onset and higher pathological-TNM stage. Therefore we conclude that both germline and somatic SDHx mutations/variants occur in sporadic DTC but are very rare in sporadic breast cancer, and overall loss of SDHx gene expression is a signature of DTC.

Amniotic membrane (AM) and umbilical cord (UC) are well known to have anti-inflammatory properties and have been shown to promote healing in various orthopedic indications. This study investigated whether intra-articular injection of AM/UC particulate matrix promotes healing of partial rotator cuff tears (RCTs). A case series was performed on 10 patients that received injection of 50 mg AM/UC for partial RCTs that were refractory to conservative treatment. Outcomes included Penn Shoulder Score (PSS) questionnaire, range of motion examination, and magnetic resonance imaging (MRI) analysis before and at 6 months. Final MRI analysis was performed by a musculoskeletal radiologist in a blinded fashion. Average PSS score (out of 100) increased from 46.8 ± 23.7 at baseline to 82.0 ± 19.1 at 6 months. The average PSS sub-scores of pain, satisfaction, and function increased 78.4%, 37.1%, and 82.3% from baseline, respectively. The subject's range of motion was 77.9% at baseline and increased to 99.9% at 6-months. Follow-up MRI scans did not demonstrate any significant change in RCT size. No adverse events were noted. This small case series provides preliminary data for use of cryopreserved AM/UC particulate matrix in patients with refractory partial RCTs.

Purpose: We sought to determine (1) the prevalence of cam deformity in the population and that of bilateral cam deformity, (2) the typical location of a cam lesion, and (3) the typical size of a cam lesion by direct visualization in cadaveric femora.Methods: Two observers inspected 3,558 human cadaveric femora from the Hamann–Todd Osteological Collection from the Cleveland Museum of Natural History. Any asphericity &gt;2 mm from the anterior femoral neck line was classified as a cam lesion. Once lesions had been inspected, the prevalence in the population, prevalence by gender, and prevalence of bilateral deformity were determined. Additionally, each lesion was measured and localized to a specific quadrant on the femoral neck based upon location of maximal deformity.Results: Cam lesions were noted in 33% of males and 20% of females. Eighty percent of patients with a cam lesion had bilateral lesions. When stratified by location of maximal deformity, 90.9% of lesions were in the anterosuperior quadrant and 9.1% were in the anteroinferior quadrants. The average lesion measured 17 mm long × 24 mm wide × 6 mm thick in men and 14 mm × 22 mm × 4 mm in women (p &lt; 0.05).Conclusions: The population prevalence of cam deformity determined by direct visualization in cadavers may be higher than has been suggested in studies utilizing imaging modalities.Level of Evidence : Level II, diagnostic study.

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