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A 51-year-old woman presented with a 2-month history of dyspnea. A chest radiograph showed pleural effusions, and CT of the pelvis showed a pelvic mass and perihepatic ascites.

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disorder characterized by occurrence of parathyroid tumours, often atypical adenomas and carcinomas, ossifying jaw fibromas, renal tumours and uterine benign and malignant neoplasms. HPT-JT is caused by mutations of the cell division cycle 73 ( CDC73 ) gene, located on chromosome 1q31.2 and encodes a 531 amino acid protein, parafibromin. To facilitate in vivo studies of Cdc73 in tumourigenesis we generated conventional ( Cdc73 +/− ) and conditional parathyroid-specific ( Cdc73 +/L / PTH-Cre and Cdc73 L/L / PTH-Cre ) mouse models. Mice were aged to 18-21 months and studied for survival, tumour development and proliferation, and serum biochemistry, and compared to age-matched wild-type ( Cdc73 +/+ and Cdc73 +/+ /PTH-Cre ) littermates. Survival of Cdc73 +/− mice, when compared to Cdc73 +/+ mice was reduced ( Cdc73 +/− =80%; Cdc73 +/+ =90% at 18 months of age, P <0.05). Cdc73 +/− , Cdc73 +/L /PTH-Cre and Cdc73 L/L /PTH-Cre mice developed parathyroid tumours, which had nuclear pleomorphism, fibrous septation and increased galectin-3 expression, consistent with atypical parathyroid adenomas, from 9 months of age. Parathyroid tumours in Cdc73 +/− , Cdc73 +/L /PTH-Cre and Cdc73 L/L /PTH-Cre mice had significantly increased proliferation, with rates >fourfold higher than that in parathyroid glands of wild-type littermates ( P <0.0001). Cdc73 +/− , Cdc73 +/L /PTH-Cre and Cdc73 L/L /PTH-Cre mice had higher mean serum calcium concentrations than wild-type littermates, and Cdc73 +/− mice also had increased mean serum parathyroid hormone (PTH) concentrations. Parathyroid tumour development, and elevations in serum calcium and PTH, were similar in males and females. Cdc73 +/− mice did not develop bone or renal tumours but female Cdc73 +/− mice, at 18 months of age, had uterine neoplasms comprising squamous metaplasia, adenofibroma and adenomyoma. Uterine neoplasms, myometria and jaw bones of Cdc73 +/− mice had increased proliferation rates that were 2-fold higher than in Cdc73 +/+ mice ( P <0.05). Thus, our studies, which have established mouse models for parathyroid tumours and uterine neoplasms that develop in the HPT-JT syndrome, provide in vivo models for future studies of these tumours.

Background The aim of this study was to assess and present the radiological morphology of the non-ossifying fibroma (NOF), to describe the life span according to the Ritschl-stages in an effort to determine critical stages with regard to pathological fractures and discuss the need for a follow-up. Methods Reports of a consecutive series of 87 patients with 103 NOFs and a mean follow-up of 27 months were analysed according to the Ritschl-stages with regard to age at time of diagnosis, localisation, duration of stage and symptoms. Results Mean patient age in our series was 20 years and lesions most frequently affected the long bones of the lower extremity. Nineteen lesions were categorized in stage A, 53 in stage B, 17 in stage C and 14 in stage D. Most lesions were detected incidentally. In six of ten clinically symptomatic patients with an average age of ten years a pathological fracture occurred, and four of them were located in the tibia. All of these were in stage B with a mean length of 44 mm, an average expansion in relation to the bone-diameter of 75 % in transversal and 87 % in sagittal plane. Duration of the stages was variable. In the critical stage B the mean was 21 months. Conclusion The non-ossifying fibroma follows a characteristic radiomorphological course with variable duration of each stage. Stage B lesions were found to be at an increased risk of fracture, and the age range over which fractures occur was wide. No fractures were detected in the other three stages. Follow-up, including clinical survey and imaging, at six to twelve month intervals may therefore be considered in the case of larger stage B lesions until stage C is reached.

Background Although chronic quadriceps tendon rupture and defect are rare, they pose significant challenges in surgical treatment. In these cases, quadriceps tendon reconstruction is necessary. Either autologous or allogeneic tendons have been used for this reconstruction. But a choice with the ligament augmentation and reconstruction system (LARS), can potentially minimize various complications associated with autologous or allogenic tendon. Case presentation A 35-year-old man complained of knee pain due to recurrent fibroma of tendon sheath (FTS) in the quadriceps tendon, which had undergone arthroscopic resection 12 months ago. In this case, LARS artificial ligament was implemented to fill the space and restore knee extension function after resecting the tumor of quadriceps tendon. The patellar side of the artificial ligament was fixed by double-beam tunnel compression, and the soft tissue side was fixed by suture. During follow-up, the pain disappeared and the knee joint function also returned to normal. Conclusions Quadriceps tendon reconstruction with LARS ligament could achieve good clinical results and should be a good choice for defect of quadriceps tendon.

Aggressive fibromatosis is a benign but locally-aggressive tumor, which most often affects the muscles of the shoulder, the pelvic girdle, and the thigh. It usually affects adolescents and young adults. Desmoplastic fibroma, considered the bone counterpart of soft tissue fibromatosis, is a rare tumor that usually affects the metaphyseal or diaphyseal portions of long bones or, less commonly, the jaw. Neuromuscular hamartoma, a rare developmental lesion composed of mature elements of both striated muscle and nerve, is usually diagnosed in infants and children and affects large nerve trunks. Rarely, it can affect the head and neck region. Occasional cases showing an association between aggressive fibromatosis and neuromuscular hamartoma have been reported in the literature. Here we present a unique case of an adult patient with desmoplastic fibroma of the mandible in association with neuromuscular hamartoma.

With the advent of echocardiography, cardiac papillary fibroelastoma (CPF) is being increasingly reported. The demographics, clinical characteristics, pathological features, treatment, and prognosis of CPF are examined. Cases, case series and related articles on the subject in all languages were identified through a comprehensive literature search. Seven hundred twenty-five cases of CPF were identified. Males comprised 55% of patients. Highest prevalence was in the 8th decade of life. The valvular surface was the predominant locations of tumor. The most commonly involved valve was the aortic valve, followed by the mitral valve. The left ventricle was the predominant nonvalvular site involved. No clear risk factor for development of CPF has been reported. Size of the tumor varied from 2 mm to 70 mm. Clinically, CPFs have presented with transient ischemic attack, stroke, myocardial infarction, sudden death, heart failure, presyncope, syncope, pulmonary embolism, blindness, and peripheral embolism. Tumor mobility was the only independent predictor of CPF-related death or nonfatal embolization. Symptomatic patients should be treated surgically because the successful complete resection of CPF is curative and the long-term postoperative prognosis is excellent. The symptomatic patients who are not surgical candidates could be offered long-term oral anticoagulation, although no randomized controlled data are available on its efficacy. Asymptomatic patients could be treated surgically if the tumor is mobile, as the tumor mobility is the independent predictor of death or nonfatal embolization. Asymptomatic patients with nonmobile CPF could be followed-up closely with periodic clinical evaluation and echocardiography, and receive surgical intervention when symptoms develop or the tumor becomes mobile.

Left ventricular tumour is a rare condition in children. The causes include vegetations, thrombus, and fibroma. 2-year-old asymptomatic female presented with an innocent heart murmur at 6 months of age. Subsequent follow-ups at 18 months of age showed left ventricular mass. Surgical pathology revealed “nodular fasciitis.” This type of tumour has never been described in the heart before.

Background Cardiac fibromas are extremely rare in adults. The preferred treatment is surgical resection, but antiarrhythmic medications or heart transplantation have also been used previously. The cardiac imaging, particularly MRI, can be useful to help delineate between primary cardiac tumors, and surgical factors such as the extent/size of the fibroma, involvement of the coronary arteries or mitral apparatus and amount of residual myocardium influence whether surgical resection is feasible. Case presentation A 42-year-old male presented with a wide-complex tachycardia, unresponsive to amiodarone. An echocardiogram was performed which showed a possible posterior wall mass. A cardiac MRI showed a well circumscribed lateral wall intracardiac fibroma, measuring 5.2 × 5.1 × 3.8 cm with preserved function. Surgical resection was successful, and he was discharged without a defibrillator. Conclusions Cardiac fibromas are encapsulated tumors which do not infiltrate myocardium and should be surgically resected if possible.

Management of familial adenomatous polyposis (FAP) is guided by the cumulative risk of colorectal cancer (CRC) and aggressive fibromatosis/desmoid (AF/D). The first non-Caucasian FAP cohort with cumulative risk estimates for CRC and AF/D shows distinct differences with the Caucasian and other Asian cohorts. The strong correlation between the adenomatous polyposis coli (APC) mutation location with the FAP phenotype and the geoethnic differences in APC mutation spectrum, genetic constitution, lifestyle and sporadic CRC rates, mandates the use of population-specific cumulative risk estimates for CRC and desmoid for counselling and risk management. On genotype–phenotype correlation in 83 individuals with classical FAP and a confirmed pathogenic/likely Pathogenic (P/LP) APC variant (n=76) or obligate carrier of the family variant (n=7), we observed a high cumulative CRC risk of 40% and 85% by 40 and 60 years, respectively. The observed 30% cumulative risk by 50 years for desmoids was higher than previous European and Asian cohorts and was significantly associated with prophylactic surgery (OR: 4.58, 95% CI 1.06 to 19.78) and APC mutation 3′ of codon 1309 (OR: 13.07, 95% CI 3.58 to 47.56) and also 3′ of codon 1444 (OR: 8.0, 95% CI 1.83 to 34.94). Global cooperation is required to establish FAP genotype–phenotype associations and population-specific risk estimates to guide genetic counselling and risk management.

Background Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture. Case presentation A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared. Conclusions In conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.