Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder of which approximately 300 cases have been reported in the literature. Patients with RTS often present early in life with skeletal and dental abnormalities, short stature, juvenile cataracts, and a characteristic poikilodermal rash. They are at increased risk for the development of osteosarcoma that usually presents by the second decade of life. The genetic defects underlying RTS are truncating mutations in RECQL4, a gene involved with chromosomal stability. Several cases of primary hematological malignancies have been reported in RTS, but it is unclear whether patients with RTS are at higher risk to develop either primary or secondary hematological malignancies. We report a patient with RTS who presented to our clinic at the age of 7, subsequently developed multifocal and recurrent osteosarcoma that was followed by the development of a myelodysplastic syndrome with subsequent progression to acute myeloid leukemia.

Different Pattern of Bone Scintigraphy in Mandibular Osteosarcoma Arising From Fibrous Dysplasia in a Patient With McCune-Albright Syndrome.

McCune-Albright syndrome is a rare condition consisting of triad of fibrous dysplasia, hyperfunctioning endocrinopathy, and café au lait macules of skin. A 31-year-old man was diagnosed with fibrous dysplasia 18 years before presenting with pathologic fracture. No workup for polyostotic fibrous dysplasia was performed at that time. He now presented with left facial swelling and skeletal features of acromegaly. MRI revealed a 15-cm enhancing tumor diagnosed histopathologically as high-grade osteosarcoma. Tc-methylene diphosphonate bone scintigraphy revealed decreased uptake at the tumor site contrary to the usual finding of avid uptake by the neoplastic bone forming tumor.

Comprehensive molecular imaging of malignant transformation of giant cell tumour of bone reveals diverse disease biology.

Malignant transformation of giant cell tumour of the bone is extremely rare. In addition, bone transformation in giant cell tumour may occur in different phases. With conventional X-rays, CT scans or MRIs, it may be challenging to distinguish among different phases of bone transformation, normal bone, soft tissue disease and bone disease (benign vs malignant lesions) and changes in multiple organs such as lung, liver and lymph nodes unless every lesion is biopsied, which is not practical. Molecular imaging with different isotopes (Tc-99m phosphonate, 2-deoxy-2-(18F)fluoro-d-glucose and sodium fluoride-18) may help to better characterise the disease. We hypothesised that molecular imaging could offer qualitative and quantitative characterisation of all stages of bone formation, destruction, reactivity or neoplasia in a patient with giant cell tumour of the bone, and we present the first case of molecular imaging where bone formation was seen in multiple soft tissues, such as lungs, muscles, lymph nodes and liver.

Unusual Finding of a Tumor Thrombus Arising From Osteosarcoma Detected on 18F-NaF PET/CT.

Osteosarcoma is the most common bone sarcoma in adolescents and children. Tumor thrombus arising from osteosarcoma is rare. We describe the case of a 13-year-old girl with osteosarcoma of the right femur, in whom the F-NaF PET/CT was done for initial staging to look for skeletal metastases. The scan showed abnormal increased tracer uptake in the primary tumor and the right common femoral and external iliac vein representing a tumor thrombus. Our case emphasizes the importance of extraosseous findings on F-NaF PET/CT, which may result in important management changes.

Osteoblastic osteosarcoma of the mandible: findings on Tc-99m HMDP bone and Ga-67 citrate scintigraphy.

A 25-year-old woman presented with a disturbance in the opening of her mouth 5 months before admission. On admission, painful swelling of the right preauricular region was revealed. Computed tomography (CT) demonstrated a soft tissue density mass around the right condylar process of the mandible. Tc-99m hydroxymethylene diphosphonate (HMDP) bone scintigraphy and Ga-67 citrate scintigraphy showed avid uptake in the mass. The tumor was histologically identified as an osteoblastic osteosarcoma of the right mandible. There are few reports of Ga-67 citrate scintigraphy findings of osteoblastic osteosarcoma of the mandible. The accumulation patterns on Tc-99m HMDP bone scintigraphy and Ga-67 citrate scintigraphy are possibly characteristic of osteoblastic osteosarcoma of the mandible.

Noncoding RNAs: Possible Players in the Development of Fluorosis.

Fluorosis is caused by excess of fluoride intake over a long period of time. Aberrant change in the Runt-related transcription factor 2 (RUNX2) mediated signaling cascade is one of the decisive steps during the pathogenesis of fluorosis. Up to date, role of fluoride on the epigenetic alterations is not studied. In the present study, global expression profiling of short noncoding RNAs, in particular miRNAs and snoRNAs, was carried out in sodium fluoride (NaF) treated human osteosarcoma (HOS) cells to understand their possible role in the development of fluorosis. qPCR and in silico hybridization revealed that miR-124 and miR-155 can be directly involved in the transcriptional regulation of Runt-related transcription factor 2 (RUNX2) and receptor activator of nuclear factor κ-B ligand (RANKL) genes. Compared to control, C/D box analysis revealed marked elevation in the number of UG dinucleotides and D-box sequences in NaF exposed HOS cells. Herein, we report miR-124 and miR-155 as the new possible players involved in the development of fluorosis. We show that the alterations in UG dinucleotides and D-box sequences of snoRNAs could be due to NaF exposure.

Osteosarcoma arising in Paget's disease of the mandible.

Although osteosarcoma is a well-known complication of Paget's disease of bone, it uncommonly develops in the jaw bones. We present an osteosarcoma arising in Paget's disease of the mandible with unique features of a normal serum alkaline phosphatase level, and histologic features of telangiectatic change in the osteosarcoma and association with cemento-osseous dysplasia. Sixteen reported cases of osteosarcoma arising in Paget's disease of the jaw bones (OPJ) are also reviewed and compared to osteosarcoma arising in Paget's disease occurring in the entire skeleton (OPS) and osteosarcoma arising de novo in the jaw bones (OJ). Females are more commonly involved in OPJ in contrast to a male predominance in OPS and OJ. OPJ also has a distinctively higher percentage involving blacks compared to OPS. The prognosis of OPJ is poor, with 69% of patients dying within two years after diagnosis. Early recognition, early and aggressive treatment are important to improve the prognosis and are hence emphasized.

Osteosarcoma: an example of the thickended periodontal ligament space.

A case of osteosarcoma which displayed a widened PDL space in a dental radiograph was presented. Other causes for thickening of the PDL were reviewed and differentiated from the features seen in osteosarcoma.

Acrylic cranioplasty and axial pattern flap following calvarial and cerebral mass excision in a dog.

A 4 kg Chihuahua was presented with seizures and a large mass on his dorsal cranium. The mass had regrown after two previous attempts to remove it. Histological examination had shown the mass to be a multilobular osteochondroma (osteochondrosarcoma). A CT scan revealed destruction of the dorsal cranial bones by the mass and compression of cerebral cortex. A craniotomy was performed to excise the mass and attached skin, leaving a large deficit of calvarial bone and skin. A cranioplasty was performed in situ, using polypropylene mesh and polymethyl methacrylate. A caudal auricular axial pattern flap was placed directly over the cranioplasty to fill the skin defect. This unusual reconstruction resulted in good recovery, function and cosmetic effect, although tumour regrowth was seen within the cerebral cortex.

Dental and maxillofacial abnormalities following treatment of malignant tumours in children.

There is a wide range of malignant tumours with an embryonic origin that can affect children in their early childhood including Rhabdomyosarcoma, Osteosarcoma, Chloroma, Retinoblastoma and neuroblastoma. Different protocols have been developed over the past years to treat these tumours and different combinations of radiotherapy, surgery and chemotherapy were used. This improved the survival rate considerably. This treatment has a marked effect on growth of soft and hard tissues in the affected regions of the head and face, leading to facial and dental abnormalities that become evident with growth. The great effect of radiotherapy and chemotherapy on craniofacial skeletal growth should be considered in all cases undergoing treatment for tumours. The resulting dental and maxillofacial abnormalities should be expected in all cases and its management require involvement of different members of the medical team including maxillofacial surgeon, restorative dentist, orthodontist, psychologist, dietician, speech therapist, the patient and the parents in order to achieve maximum results. This paper presents four patients who underwent radiotherapy and chemotherapy for treatment of embryonic tumours and discusses the main side effects of the treatment.

Sarcomatous degeneration in fibrous dysplasia of the rib cage.

Malignant degeneration in fibrous dysplasia is a rare occurrence. Most cases are reported in polyostotic fibrous dysplasia with predisposition of the femur, tibia, maxilla, and mandible. The most commonly observed malignant tumors are osteosarcoma, fibrosarcoma, and chondrosarcoma. We describe a case of a low-grade osteosarcoma occurring in polyostotic fibrous dysplasia of the rib cage in a 50-year-old man.

Osteosarcoma in a pregnant patient with McCune-Albright syndrome.

Malignant transformation of fibrous dysplasia is very rare and has not been previously described in patients with McCune-Albright syndrome in the absence of radiation treatment during gestation. Here, we report a 38-year-old pregnant woman with McCune-Albright syndrome and acromegaly accompanied by osteosarcoma. The patient was in the 6th week of pregnancy, when she visited our hospital. She had multiple fibrous dysplasia, skin pigmentation, and acromegaly. The markedly high bone turnover rate during pregnancy tended to decrease after a normal delivery. Fibrous dysplasia of the lower jaw rapidly increased in the 37th week of pregnancy, and the tumor was surgically resected after delivery. Pathological examination of the resected tumor revealed fibrous dysplasia admixed with osteosarcoma containing chondroblastic and osteoblastic tissue. We firstly reported a case of osteosarcoma in a patient with McCune-Albright syndrome, which rapidly progressed during pregnancy.

Parosteal osteogenic sarcoma of the mandible, Existence masked by diffuse periodontal inflammation.

A 38-year-old man was in a state of poor oral hygiene, with multiple broken carious teeth and diffuse inflammatory hyperplasia of the gingival tissues. A mandibular, alveolar soft tissue mass in the premolar-molar region was noted on the right side, in continuity with the gingival hyperplasia. Biopsy of the lesion ruled out a diagnosis of squamous cell carcinoma. The patient underwent extraction of his teeth, and all hyperplastic tissues including the tumefaction were excised. Five months later, the patient had a recurrent mass in the same location that was removed via hemimandibulectomy. The mass was diagnosed as a parosteal osteogenic sarcoma.

Neurofibromatosis type 1, hyperparathyroidism, and osteosarcoma: interplay?

Neurofibromatosis type 1 (NF 1) is a syndrome with a predisposition for benign and malignant tumor development. Of the malignant neoplasms, osteogenic sarcomas are rare but have been described. There are some reports of patients with neurofibromatosis type 1 with a parathyroid adenoma and hyperparathyroidism. Also, there are studies that imply that the parathyroid hormone plays a role in the regulation and modulation of oseogenic sarcomas in vitro. We report about a 50-year-old female suffering from neurofibromatosis type 1, with a 3-year documented history of untreated hyperparathyroidism and a parathyroid adenoma. The patient developed a mandibular osteogenic sarcoma. To our knowledge, this is the first reported case occurring in the mandible. The unusual tumor site for a patient with neurofibromatosis type 1, the conjugation with hyperparathyroidism and the rapid growth of an osteogenic sarcoma are intriguing.

Osteogenic sarcoma of the maxilla.

Six cases of osteosarcoma of the maxilla are reported, including one case that was radiation-associated and one case that arose in Paget's disease. The literature on this entity is reviewed and the clinicopathologic features of this lesion in this unusual location are discussed.

Osteosarcoma of the upper jaw.

8 cases of osteosarcoma of the upper jaw from a personal series of tumours are described, and their treatment discussed in the light of past experience. Of the cases, four are still alive and well 6 months to 11 years after treatment. A case is put forward for the initial use of radical surgery, especially maxillectomy with orbital exenteration. The addition of routine postoperative Adriamycin therapy is recommended in the light of its known activity against sarcomas. The palliation of advanced cases is also discussed.