DNA methylation profile discriminates sporadic giant cell granulomas of the jaws and cherubism from their giant cell-rich histological mimics.

Sporadic giant cell granulomas (GCGs) of the jaws and cherubism-associated giant cell lesions share histopathological features and microscopic diagnosis alone can be challenging. Additionally, GCG can morphologically closely resemble other giant cell-rich lesions, including non-ossifying fibroma (NOF), aneurysmal bone cyst (ABC), giant cell tumour of bone (GCTB), and chondroblastoma. The epigenetic basis of these giant cell-rich tumours is unclear and DNA methylation profiling has been shown to be clinically useful for the diagnosis of other tumour types. Therefore, we aimed to assess the DNA methylation profile of central and peripheral sporadic GCG and cherubism to test whether DNA methylation patterns can help to distinguish them. Additionally, we compared the DNA methylation profile of these lesions with those of other giant cell-rich mimics to investigate if the microscopic similarities extend to the epigenetic level. DNA methylation analysis was performed for central (n = 10) and peripheral (n = 10) GCG, cherubism (n = 6), NOF (n = 10), ABC (n = 16), GCTB (n = 9), and chondroblastoma (n = 10) using the Infinium Human Methylation EPIC Chip. Central and peripheral sporadic GCG and cherubism share a related DNA methylation pattern, with those of peripheral GCG and cherubism appearing slightly distinct, while central GCG shows overlap with both of the former. NOF, ABC, GCTB, and chondroblastoma, on the other hand, have distinct methylation patterns. The global and enhancer-associated CpG DNA methylation values showed a similar distribution pattern among central and peripheral GCG and cherubism, with cherubism showing the lowest and peripheral GCG having the highest median values. By contrast, promoter regions showed a different methylation distribution pattern, with cherubism showing the highest median values. In conclusion, DNA methylation profiling is currently not capable of clearly distinguishing sporadic and cherubism-associated giant cell lesions. Conversely, it could discriminate sporadic GCG of the jaws from their giant cell-rich mimics (NOF, ABC, GCTB, and chondroblastoma).

Pediatric Chondroblastoma and the Need for Lung Staging at Presentation.

PURPOSE: Chondroblastoma is a benign, but potentially locally aggressive, bone tumor with predilection for the epiphysis of long bones in growing children. Historically, there is a reported 2% risk of lung metastasis, however these cases are mostly in the form of isolated single reports and the vast majority in adults. The purpose of this study was to identify the "true" risk of lung metastases at presentation in skeletally immature patients with a benign chondroblastoma, and therefore revisit the need for routine chest staging. METHODS: This was a multi-institution, international retrospective study of children and adolescents diagnosed and treated for a benign chondroblastoma. We focused on the screening and diagnosis of lung metastasis, type of staging utilized and the incidence of local recurrence. Detailed review of the available literature was also performed for comparison. RESULTS: The final studied cohort included 130 children with an average age of 14.5 years (range: 6 to 18 y). There were 94 boys and 36 girls. Lesions more often involved the proximal humerus (32/130), proximal tibia (30/130), and proximal femur (28/130). At an average follow-up of 50 months, there were 15 local recurrences (11% rate) and no cases of lung metastasis. All patients underwent chest imaging at presentation. The overall reported lung metastases rate in the pulled literature review (larger series only) was 0.4% (7/1625), all patients were skeletally mature. CONCLUSIONS: This is the largest cohort of pediatric-exclusive chondroblastoma in the literature. Despite minor differences in management between the centers included, the recurrence rate was similar and there was no evidence of lung metastasis (0 in 130). The incidence of distant involvement in a true benign chondroblastoma in children is much lower than the 2% previously reported in the literature, and the need for routine chest staging should be revisited. LEVEL OF EVIDENCE: Level III.

Salvage of the proximal femur following pathological fractures involving benign bone tumors.

BACKGROUND AND OBJECTIVES: To describe the surgical treatment of patients with a pathologic fracture through a benign tumor of the proximal femur to determine if there is a difference in local recurrence, complications or functional outcome compared to patients with tumors in the same location without pathologic fractures. METHODS: From 1989-2010, of 97 patients, 29 presented with a pathologic fracture (PF) through a proximal femoral benign bone tumor and 68 presented without a pathologic fracture (NPF). Outcomes of the two groups were compared in terms of surgical management, postoperative complications, local recurrence and functional scores. RESULTS: Fibrous dysplasia, giant cell tumor of bone and chondroblastoma were the most common subtypes. Most patients were managed with joint preservation in both PF (86.2%) and NPF (98.5%) groups (P = 0.03). Local recurrence risk was similar for patients in the PF (10.3%) and NPF (8.8%) groups. Mean follow-up was 105.7 months (P = 0.8). Functional outcome scores were high in both groups and not statistically significantly different. CONCLUSIONS: The majority of pathologic fractures through a benign bone tumor of the proximal femur can be successfully treated with curettage, burring, bone grafting and internal fixation without increasing the risk of local recurrence or negatively impacting functional outcome.

Calcaneal chondroblastoma with secondary aneurysmal bone cyst: a case report.

We present a case of destructive chondroblastoma associated with secondary aneurysmal bone cyst involving the left calcaneus. Because of the extensive destruction of the calcaneus, total calcanectomy was the treatment of choice.

Condroblastoma pélvico / Pelvic Chondroblastoma

Este artículo describe el caso de una mujer de 24 años de edad con un condroblastoma de localización pélvica, con una masa a la altura de la cresta iliaca derecha, de seis meses de evolución y crecimiento progresivo. Los rayos X mostraron una lesión osteolítica con densidad heterogénea y extensión hacia los tejidos blandos; el estudio histopatológico evidenció un condroblastoma. Los condroblastomas son tumores óseos benignos productores de cartílago que aparecen en las epífisis de los huesos largos de personas jóvenes. Alrededor del 75% de estos tumores afectan los huesos largos, principalmente el fémur, la tibia y el húmero; excepcionalmente se localizan en los huesos planos craneofaciales y en los huesos pélvicos. Los condroblastomas tienen características radiológicas e histopatológicas distintivas, y pese a su comportamiento biológico benigno, pueden causar una alta morbilidad para los pacientes, debido a su localización y a su tratamiento exclusivamente quirúrgico.

This article describes the case of a 24-year old woman with a pelvic chondroblastoma localized at the top of the right iliac crest, with six months of evolution and progressive growth. X-rays revealed an osteolytic lesion with heterogeneous density, extending toward soft tissue; the hisopathologic study provided evidence of chondroblastoma. Chondroblastomas are benign bone tumors producers of cartilage which appears in the long bone epiphysis of young people. Nearly 75% of such tumors affect the long bones, principally the femur, the tibia, and the humerus; exceptions include those in the flat craniofacial bones and the pelvis bones. Chondroblastomas have distinct radiological and histopathologic characteristics, and despite their benign biological behavior, can cause elevated morbidity among patients due to their localization and being treated exclusively with surgery.

Imagen fotopénica secundaria a derrame pleural masivo visualizada en la fase precoz de una gammagrafía ósea / Photon-deficient right hemithorax on blood pool images in a pleural effusion

Presentamos un paciente con derrame pleural maligno visualizado como una área fotopénica en la imagen precoz de una gammagrafía ósea en 2 fases.

We present a patient with chondrosarcoma. In the blood pool phase of a bone scintigraphy we saw a cold area in the right hemithorax. This image was secondary to a malignant pleural effusion.

Orbital invasion by chondromyxoid fibroma of the ethmoid sinus.

A 10-year-old girl presented with painless progressive proptosis of the left eye. CT and MRI of the orbits showed a large ethmoidal mass invading the orbit. Clinically, despite its size, the tumor was not inducing any functional signs. A coronal approach was used to remove the tumor en bloc. Histopathology revealed that the lesion was a chondromyxoid fibroma, a neoplasm unreported in the ophthalmic literature.

Estudio radiológico simple en el diagnóstico de condroblastoma epifisiario benigno: correlación anatomo – radiológica / Radiographic study in benign epiphyseal chondroblastoma diagnosis: anatomoradiological correlation

Introduction: A chondroblastoma is a rare, usually benign, tumor of bone that accounts for approximately 1 percent of all bone tumors, which mainly affects the growing skeleton. Local pain is the most common presenting symptom, and for some patients it implies functional involvement due to its periarticular site. Chondroblastoma most commonly affects the epiphysis of long bones, specially occuring on the lower extremities. Usually, radiography is the first diagnostic imaging technique to be performed and its relatively characteristic findings may cause alarm or lead to misdiagnosis. Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) are complementary studies that best show the lesion, its extension, and soft tissue involvement. Objectives: To present the most frequent manifestations of chondroblastoma in radiographies, establishing the anatomoradiological correlation of lesions. Material and Methods: Thirty-six patients with histologically proven chondroblastoma, who were registered in the National Register of Bone Tumors, between 1959 and 2004, were retrospectively investigated under clinical and radiological viewpoints. Results: Thirty-six patients (26 male, 10 female) whose ages ranged from 5 to 19 years (mean age 14.5 years) were studied. In all cases, biopsy results confirmed the diagnosis of chondroblastoma. Bone lesions were sited as follows: long bones of lower extremities in 22 patients; long bones of upper extremities, 8 cases; feet bones, 3 patients; pelvis, 3 cases, and rib cage in 1 case. Lesions, which were unique in all cases and involved epiphyseal region, were predominantly osteolytic in 30 patients. Metaphyseal extension was found in 28 patients. Eccentric bone lesions were seen in 27 cases, while calcifications were present in 18 patients and 9 cases were found to have soft tissue extensions. Conclusions: Benign epiphyseal chondroblastoma is an unusual bone lesion occuring in young patients, with well-characterized and constant...

Introducción: El condroblastoma es una lesión ósea benigna poco frecuente (1 por ciento - 4.7 por ciento de los tumores óseos primarios), que afecta principalmente al esqueleto en crecimiento. Se manifiesta por dolor local de larga evolución y en algunos pacientes, compromiso funcional por su localización periarticular. Tiene predilección por las epífisis de los huesos largos o su equivalente epifisiarío, especialmente en extremidades inferiores. La radiografía simple es generalmente el primer examen y los hallazgos son relativamente característicos, pudiendo alarmar e inducir a error. Tomografía computada (TC) y resonancia magnética (RM) son complementarias y muestran mejor la lesión, extensión dentro del hueso y compromiso de partes blandas. Objetivos: Mostrarlas manifestaciones más frecuentes del condroblastoma en radiografías, estableciendo correlación anátomo-radiológica de las lesiones. Material y Métodos. Se analizaron retrospectivamente las características clínicas y radiológicas de 36 pacientes con condroblastoma confirmado por histología, incluidos en Registro Nacional de Tumores Óseos (RENATO), entre los años 1959 y 2004. Resultados. Se estudiaron 36 pacientes, 26 varones y 10 niñas, de 5 a 19 años (promedio = 14.5 años). Biopsia compatible con condroblastoma en todos los pacientes y su localización: huesos largos de extremidades inferiores(22), huesos largos de extremidades superiores(8), huesos del pie(3), pelvis(3) y parrilla costal(1). Las lesiones fueron únicas en todos los casos, predominantemente osteolíticas(30). La totalidad comprometía la epífisis; se observó extensión hacia la metáfisis(28), lesión ósea excéntrica(27), calcificaciones(W) y extensión hacia partes blandas(9). Conclusión. El condroblastoma epifisiario benigno es una lesión poco frecuente, de pacientes jóvenes, con manifestaciones radiológicas relativamente constantes y características, lo que puede permitir al radiólogo sospechar el diagnóstico en la radiografía simple ini...

Subungual chondroblastoma in a 9-year-old girl.

Chondroblastoma is an uncommon primary bone tumor, mainly found in the epiphyses of long bones. We describe a 9-year-old girl who presented with a chondroblastoma as a subungual mass in the fifth toe. Radiographs showed an expansive, calcified tumor of the distal phalanx. Histologic examination after excision revealed chondroid differentiation, active mitosis, multinucleated giant cells, calcification, and necrosis. There was no recurrence of the lesion after surgical excision. The purpose of this report is to document this unusual event that occurred in such a short bone as the distal phalanx of the fifth toe, mimicking a dermatologic entity.

Chondromyxoid fibroma of the lumbar spine.

A bulky tumor of the first lumbar vertebra is described. The case is the 21st to be reported. The tumor resembled an aneurysmal bone cyst radiologically. It was resected without incident. The previously reported cases are reviewed and the literature discussed.

[Benign chondroblastoma of the occipital bone. A case report]. / Condroblastoma benigno do osso occipital. Relato do caso.

Benign chondroblastoma is a rare bone tumor of immature cartilage cell derivation. This lesion classically occur at the ends of long bones in young persons. Chondroblastoma arising from the occipital bone is extremely rare. We report the case of a 16 year old girl with a benign condroblastoma in the occipital bone, and discuss the clinical, radiological and treatment aspects of this tumor.

Condroblastoma benigno do osso occipital: relato de caso / Benign chondroblastoma of the occipital bone: a case report

Condroblastoma benigno é tumor ósseo raro, tendo como origem células cartilagíneas. Classicamente este tumor acomete regioes epifisárias de ossos longos, sendo incomum o envolvimento de ossos do crânio, principalmente o osso occipital. Relatamos o caso de uma paciente com 16 anos de idade, com diagnóstico de condroblastoma benigno do osso occipital e discutimos os principais aspectos deste tumor.

Fibroma condromixóide da coluna torácica: relato de caso e revisäo da literatura / Chondromyxoid fibroma of the spinal cord: a case report and review of the literature

Os autores relatam o caso de compressao medular torácica da quinta articulaçao costovertebral à direita. O diagnóstico pré-operatório, com mielotomografia, foi de processo expansivo intrarraquidiano extradural ao nível de T5. Feita a abordagem cirúrgica por laminectomia, com ressecçao apenas da lesao intrarraquidiana. O diagnóstico de fibroma condromixóide somente foi definido com o estudo histopatológico. A paciente teve importante melhora neurológica. Decidiu-se pelo acompanhamento clínico e radiológico. Após dois anos houve recidiva do processo para dentro do canal raquidiano. Desta vez, foi realizada abordagem posterolateral à direita, por costotransversectomia e retirada da lesao. O diagnóstico histopatológico foi o mesmo. A paciente evoluiu com melhora neurológica e está sendo feito o seguimento há dois anos. Chamamos a atençao para a raridade do caso e discutimos a conduta.

Aneurysmal bone cyst. A review of 123 cases including primary lesions and those secondary to other bone pathology.

A group of 639 bone lesions was reviewed in order to study the features of the aneurysmal bone cyst and its association with other conditions. A diagnosis of primary aneurysmal bone cyst not associated with any other bone lesion was made in 87 patients. In 36 additional patients the gross and microscopic changes of aneurysmal bone cyst were identified as part of some other solid bone lesion. Fourteen of these additional cases were associated with giant cell tumor (96 cases studied), six with chondroblastoma (41 cases studied), three with chondromyxoid fibroma (45 cases studied), two with nonossifying fibroma (68 cases studied), four with osteoblastoma (61 cases studied), one with fibrosarcoma (50 cases studied), three with fibrous histiocytoma (45 cases studied), two with osteosarcoma (100 cases studied), and one with fibrous dysplasia (42 cases studied). The age, site, and sex distribution of the cases associated with another lesion compares closely with that of the solid lesion concerned, supporting the concept that the aneurysmal bone cyst component is secondary.