PURPOSE: A dedifferentiated chondrosarcoma is a rare lethal tumor characterized by a low grade chondrosarcoma juxtaposed with a high grade dedifferentiated sarcoma, such as osteosarcoma, fibrosarcoma. The aim of our study was to document the clinical manifestation and oncologic outcomes of a dedifferentiated chondrosarcoma. MATERIALS AND METHODS: This study identified 11 patients who were diagnosed and treated for dedifferentiated chondrosarcoma between January 2007 and December 2016. The identified cohort was then reviewed regarding age, sex, symptom onset, tumor location, magnetic resonance imagings (MRIs), surgical margin, and pathologic diagnosis. The time to local recurrence and/or metastasis, follow-up duration, and the patients' final status were analyzed. RESULTS: The patients were comprised of 7 males and 4 females with a mean age of 54 years (range, 33–80 years). The location of the tumor was in the femur in 6 cases, pelvis in 4 cases, and metatarsal in 1 case. The average tumor diameter was 12.7 cm (range, 6.0–26.1 cm). At the time of diagnosis, 2 patients showed pathologic fracture; 1 patient was Enecking stage IIA, 9 patients were stage IIB, and 1 patient was stage III. Eight patients were classified as a primary dedifferentiated chondrosarcoma and 3 patients were secondary. One of the primary lesions was misinterpreted initially as a low grade chondroid lesion by MRI and underwent curettage. Local recurrence occurred in 8 cases and distant metastasis occurred in 10 cases with a mean duration of 8 months (range, 2–23 months) and 7 months (range, 1–32 months), respectively. The three-year overall survival of patients with dedifferentiated chondrosarcoma was 18%, and 10 patients died due to disease progression. CONCLUSION: Dedifferentiated chondrosarcoma developed lung metastases in the early period of the clinical courses and the prognosis was dismal.
Chondrosarcoma ; Cohort Studies ; Curettage ; Diagnosis ; Disease Progression ; Female ; Femur ; Fibrosarcoma ; Follow-Up Studies ; Fractures, Spontaneous ; Humans ; Lung ; Magnetic Resonance Imaging ; Male ; Metatarsal Bones ; Neoplasm Metastasis ; Osteosarcoma ; Pathology ; Pelvis ; Prognosis ; Recurrence ; Sarcoma

OBJECTIVES: Osteolytic bone lesions are common complications in multiple myeloma (MM), and can have an impact on quality of life due to the risk of fractures. Trabecular bone score (TBS) is a novel texture index derived from dual energy x-ray absorptiometry (DXA) of lumbar spine (LS) images that provides information about bone microarchitecture. The aim of this study was to evaluate whether TBS is useful in predicting bone fractures in MM patients. METHODS: TBS was calculated retrospectively from existing DXA images of the LS, in 20 patients with newly diagnosed MM. We analyzed the development of fractures in these patients. RESULTS: The median age of the patients was 66 years (range, 49–77 years). Osteolytic bone lesions were observed in 18 patients (90%) at the time of diagnosis. The median duration of follow-up was 40.0 months (95% confidence interval [CI], 33.2–46.2), 6 fracture events (long-bone fractures in 5 events, vertebral fracture in 1) occurred in 5 patients (25%). There were no significant differences between patients who experienced new onset fractures and patients who did not for all TBSs and T-scores, although the fracture group had lower levels than the no fracture group. However, among TBSs of individual LSs, only L2 showed significantly lower scores in patients who developed fractures (1.135 ± 0.085 [95% CI, 1.030–1.241] vs. 1.243 ± 0.169 [95% CI, 1.149–1.336], P = 0.032). CONCLUSIONS: TBS of the LS in MM patients may be helpful in predicting development of fractures; however, further investigation is needed.
Absorptiometry, Photon ; Diagnosis ; Follow-Up Studies ; Fractures, Bone ; Fractures, Spontaneous ; Humans ; Multiple Myeloma ; Quality of Life ; Retrospective Studies ; Spine

PURPOSE: To evaluate the diagnostic performance of diffusion-weighted steady-state free precession (DW-SSFP) in comparison to diffusion-weighted echo-planar imaging (DW-EPI) for differentiating the neoplastic and benign osteoporotic vertebral compression fractures. MATERIALS AND METHODS: The subjects were 40 patients with recent vertebral compression fractures but no history of vertebroplasty, spine operation, or chemotherapy. They had received 3-Tesla (T) spine magnetic resonance imaging (MRI), including both DW-SSFP and DW-EPI sequences. The 40 patients included 20 with neoplastic vertebral fracture and 20 with benign osteoporotic vertebral fracture. In each fracture lesion, we obtained the signal intensity normalized by the signal intensity of normal bone marrow (SI norm) on DW-SSFP and the apparent diffusion coefficient (ADC) on DW-EPI. The correlation between the SI norm and the ADC in each lesion was analyzed using linear regression. The optimal cut-off values for the diagnosis of neoplastic fracture were determined in each sequence using Youden's J statistics and receiver operating characteristic curve analyses. RESULTS: In the neoplastic fracture, the median SI norm on DW-SSFP was higher and the median ADC on DW-EPI was lower than the benign osteoporotic fracture (5.24 vs. 1.30, P = 0.032, and 0.86 vs. 1.48, P = 0.041, respectively). Inverse linear correlations were evident between SI norm and ADC in both neoplastic and benign osteoporotic fractures (r = −0.45 and −0.61, respectively). The optimal cut-off values for diagnosis of neoplastic fracture were SI norm of 3.0 in DW-SSFP with the sensitivity and specificity of 90.4% (95% confidence interval [CI]: 81.0–99.0) and 95.3% (95% CI: 90.0–100.0), respectively, and ADC of 1.3 in DW-EPI with the sensitivity and specificity of 90.5% (95% CI: 80.0–100.0) and 70.4% (95% CI: 60.0–80.0), respectively. CONCLUSION: In 3-T MRI, DW-SSFP has comparable sensitivity and specificity to DW-EPI in differentiating the neoplastic vertebral fracture from the benign osteoporotic vertebral fracture.
Bone Marrow ; Diagnosis ; Diagnosis, Differential* ; Diffusion ; Diffusion Magnetic Resonance Imaging ; Drug Therapy ; Echo-Planar Imaging* ; Fractures, Compression* ; Fractures, Spontaneous ; Humans ; Linear Models ; Magnetic Resonance Imaging ; Osteoporotic Fractures ; ROC Curve ; Sensitivity and Specificity ; Spine ; Vertebroplasty

Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-year-old girl who presented with a 3-month-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray's intertrochanteric osteotomy. At 6 months follow up, fracture had united and patient was able to ambulate with support. WD can be a rare cause of pathological fracture. A high index of suspicion must be maintained in patients of pathological fracture presenting with associated neuropsychiatric or hepatic manifestations.
Arthritis ; Child ; Copper ; Diagnosis* ; Female ; Femur ; Femur Neck* ; Follow-Up Studies ; Fractures, Spontaneous* ; Hepatolenticular Degeneration* ; Humans ; Infant ; Metabolism ; Neck ; Osteoporosis ; Osteotomy ; Rickets

OBJECTIVE: Patients with hematological malignancies frequently encounter spine-related symptoms, which are caused by disease itself or process of treatment. However, there is still lack of knowledge on their epidemiology and clinical courses. The purpose of this article is to review clinical presentations and surgical results for spinal involvement of hematologic malignancies. METHODS: From January 2011 to September 2014, 195 patients (98 males and 97 females) suffering from hematological malignancies combined with spinal problems were retrospectively analyzed for clinical and radiological characteristics and their clinical results. RESULTS: The most common diagnosis of hematological malignancy was multiple myeloma (96 patients, 49.7%), followed by chronic myeloid leukemia (30, 15.2%), acute myeloid leukemia (22, 11.2%), and lymphoma (15, 7.56%). The major presenting symptoms were mechanical axial pain (132, 67.7%) resulting from pathologic fractures, and followed by radiating pain (49, 25.1%). Progressive neurologic deficits were noted in 15 patients (7.7%), which revealed as cord compression by epidural mass or compressive myelopathy combined with pathologic fractures. Reconstructive surgery for neurologic compromise was done in 16 patients. Even though surgical intervention was useful for early paralysis (Frankel grade D or E), neurologic recovery was not satisfactory for the progressed paralysis (Frankel grade A or B). CONCLUSION: Hematological malignancies may cause various spinal problems related to disease progression or consequences of treatments. Conservative and palliative treatments are mainstay for these lesions. However, timely surgical interventions should be considered for the cases of pathologic fractures with progressive neurologic compromise.
Diagnosis ; Disease Progression ; Epidemiology ; Fractures, Spontaneous ; Hematologic Neoplasms* ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Leukemia, Myeloid, Acute ; Lymphoma ; Male ; Multiple Myeloma ; Neurologic Manifestations ; Palliative Care ; Paralysis ; Retrospective Studies ; Spinal Cord Compression ; Spinal Cord Injuries ; Spine

STUDY DESIGN: Literature review. OBJECTIVES: To present updated information on the diagnosis of osteoporotic spinal fractures (OSFs). SUMMARY OF LITERATURE REVIEW: Conventional modalities including simple radiographs, bone mineral density (BMD) tests, and bone scans are sufficient for diagnosis of OSFs. However, other clinical and radiographic clues should be considered for prediction of the prognosis and differential diagnosis. MATERIALS AND METHODS: Review of the relevant literature. RESULTS: Clinical clues including morphometric changes in the vertebral body are sufficient for diagnosis of OSFs. BMD testing is helpful for diagnosis of osteoporosis. However, simple radiographs and BMD tests do not present sufficient information on the prognosis of OSFs. The location of the involved segments, morphological characteristics, and other co-morbidities should be taken into consideration in the initial management of OSFs. Moreover, pathologic conditions leading to spinal fractures should be taken into account in some clinical situations. CONCLUSIONS: With increasing reports of complicated OSFs or other pathologic fractures, other diagnostic modalities and clinical factors should be considered in predicting the prognosis of OSFs and differentiating OSFs from other pathologic conditions.
Bone Density ; Diagnosis* ; Diagnosis, Differential ; Fractures, Spontaneous ; Osteoporosis ; Prognosis ; Spinal Fractures*

PURPOSE: Giantcell-rich osteosarcoma (GCRO) is a rare subtype of osteosarcoma. We reviewed; 1) radiological finding of GCRO and clinical impression-related diagnostic workup at referral center, 2) diagnostic delay until a proper diagnosis is made, 3) impact of diagnostic delay on the oncologic outcome. MATERIALS AND METHODS: We reviewed 17 patients with GCRO. We investigated the plain radiographic finding, tumor size and location, presence of pathologic fracture, clinical impression and pathological diagnosis at referral center, diagnostic delay, definitive treatment, local recurrence, metastasis, and survival rate. RESULTS: Eleven cases (64.7%) showed a plain radiographically, purely osteolytic pattern while 6 cases (35.3%) showed mixed osteolytic and sclerotic lesion. Diagnosis at primary center was osteosarcoma in 7 (41.2%), giant cell tumor in 7 (41.2%), and benign bone tumor in 3 (17.6%). Six patients (35.3%) experienced diagnostic delay. Mean diagnostic delay was 3.1 months (1 to 8). At final follow-up 5-year actuarial survival rate of 17 patients was 65%+/-25%. Although 11 patients without diagnostic delay showed a tendency of high survival over 6 patients with diagnostic problem, there was no statistical significance (p=0.14). CONCLUSION: GCRO is a rare subtype of osteosarcoma simulating giant cell tumor both pathologically and radiologically. Careful diagnostic approach is required in order not to misdiagnose this malignant tumor.
Diagnosis ; Diagnostic Errors ; Follow-Up Studies ; Fractures, Spontaneous ; Giant Cell Tumors ; Humans ; Neoplasm Metastasis ; Osteosarcoma* ; Recurrence ; Referral and Consultation ; Survival Rate

PURPOSE: To analyze the clinical features and treatment outcome of Langerhans' cell histocytosis. MATERIALS AND METHODS: From August 1996 to June 2013, 28 patients who histologically proven with LCH were analyzed of medical records, radiography, pathologic character retrospectively. RESULTS: A total of 28 cases of LCH including 22 child has been reported. Onset age was 0.6 to 51 years old, occurred in the average age was 14.8 years. Follow-up period was 6 months to 134 months average was 44.6 months. The M:F ratio was 2.5:1. The initial symptoms was pain in 18 cases, 5 cases of pathologic fracture, 3 case of palpable mass, 1 case of discovered by accident in radiography, 1 case of torticollis. In radiological examination osteolysis was seen all cases, 7 cases showed a periosteal reaction, 1 case showed soft tissue extension. Clinical type of all cases were eosinophilic granuloma. 25 cases were classified as unifocal disease and 3 cases were multifocal single systemic diseases. In all cases, incisional biopsy was performed. After histologic confirmed, 14 cases was treated with curettage or surgical excision of the lesion and the other 14 cases were followed up without treatment. There is no death during follow up period. 11 cases has no radiological improvement after 3-6 months observation, intralesional steroid injection was performed. CONCLUSION: Patients with LCH who has rapid systemic onset is very rare, so if you meet the young children who suspected LCH, you shoulder avoid the examination which cause excessive radiation exposure to the young patient. In order to confirm the diagnosis of disease, biopsy is needed. Close observation after confirmed by histological method will bring the satisfactory results. But the patients who had pathologic fracture or wide bone destruction already may need curettage and bone grafting to lesion or internal fixation. The lesion which has no radiological improvement after 3-6 months observation or appear with pain interferes daily life may need local steroid injection as a good treatment.
Age of Onset ; Biopsy ; Bone Transplantation ; Child ; Curettage ; Diagnosis ; Eosinophilic Granuloma ; Follow-Up Studies ; Fractures, Spontaneous ; Histiocytosis, Langerhans-Cell ; Humans ; Medical Records ; Osteolysis ; Radiography ; Retrospective Studies ; Shoulder ; Torticollis ; Treatment Outcome*

PURPOSE: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. METHODS: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. RESULTS: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. CONCLUSION: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.
Acidosis ; Cataract ; Central Nervous System ; Cryptorchidism ; Developmental Disabilities ; Diagnosis ; Fanconi Syndrome ; Follow-Up Studies ; Fractures, Spontaneous ; Genetic Counseling ; Hemorrhage ; Humans ; Kidney ; Kidney Failure, Chronic ; Korea ; Male ; Oculocerebrorenal Syndrome* ; Seizures ; Visual Acuity

Primary tumors of the lung are uncommon in pediatric patients, particularly bronchioloalveolar carcinoma (BAC). An 11-year-old female suffering from back pain for 1 month was referred to Seoul St. Mary's Hospital for treatment of a pathologic fracture of the lumbar spine. Comprehensive evaluation disclosed numerous pulmonary metastases of rhabdomyosarcoma (stage IV). During chemotherapy, most of the lung lesions regressed, with the exception of two nodules. Wedge resections, intended for diagnosis and cure, yielded a histologic diagnosis of BAC.
Adenocarcinoma, Bronchiolo-Alveolar* ; Back Pain ; Child ; Diagnosis ; Drug Therapy ; Female ; Fractures, Spontaneous ; Humans ; Lung ; Lung Neoplasms ; Neoplasm Metastasis ; Rhabdomyosarcoma ; Seoul ; Spine