Cases Of Chondromyxoid Fibroma Research Articles

Detection of GRM1 gene rearrangements in chondromyxoidfibroma: a comparison of fluorescence in-situ hybridisation,RNA sequencing and immunohistochemical analysis.

Chondromyxoid fibroma (CMF) is a rare, benign bone tumour which arises primarily in young adults and is occasionally diagnostically challenging. Glutamate metabotropic receptor 1 (GRM1) gene encodes a metabotropic glutamate receptor and was recently shown to be up-regulated in chondromyxoid fibroma through gene fusion and promoter swapping. The aim of this study was to interrogate cases of CMF for the presence of GRM1 gene rearrangements, gene fusions and GRM1 protein overexpression. Selected cases were subjected to testing by fluorescent in-situ hybridisation (FISH) with a GRM1 break-apart probe, a targeted RNA sequencing method and immunohistochemical study with an antibody to GRM1 protein. Two cases were subjected to whole transcriptomic sequencing. In 13 of 13 cases, GRM1 protein overexpression was detected by immunohistochemistry using the GRM1 antibody. Of the 12 cases successfully tested by FISH, nine of 12 showed GRM1 rearrangements by break-apart probe assay. Targeted RNA sequencing analysis did not detect gene fusions in any of the eight cases tested, but there was an increase in GRM1 mRNA expression in all eight cases. Two cases subjected to whole transcriptomic sequencing (WTS) showed elevated GRM1 expression and no gene fusions. GRM1 gene rearrangements can be detected using FISH break-apart probes in approximately 75% of cases, and immunohistochemical detection of GRM1 protein over-expression is a sensitive diagnostic method. The gene fusion was not detected by targeted RNA sequencing, due most probably to the complexity of fusion mechanism, and is not yet a reliable method for confirming a diagnosis of CMF in the clinical setting.

Chondromyxoid Fibroma of the Femur Can Not Be Differentiated ofrm Chondrosarcoma by 18F-FDG PET/CT, and Histopathology is Still the Final Diagnsotic Tool

Chondromyxoid fibroma is an extremely rare, benign cartilaginous tumor, which might be misdiagnosed as hondrosarcoma. Recent studies reported that PET/CT could distinguish benign cartilaginous tumors from chondrosarcomas with maximum Standardized Uptake Value (SUVmax) of more than 2.0. In the literature, 4 cases of chondromyxoid fibroma have been reported on PET/CT with high accumulation of 18FFDG. However, no paper has explained the reason for this high accumulation. In this paper, we present a case of femoral chondromyxoid fibroma and discuss the rational reason for high accumulation of 18F-FDG by PET/CT in accordance with histology. Here, a 20-year-old female presented with a lesion located in the medial aspect of the left distal femur. Radiography revealed an eccentric radiolucency in the metaphysis of the left distal femur. CT images clearly demonstrated a cortical destruction of the posterior wall. PET/CT images clearly demonstrated an abnormal 18F-FDG uptake of the distal aspect of the left femur with SUVmax value of 6.6, indicating a chondrosarcoma. In the present case, histology showed a number of multinucleated giant cells at the periphery of the lobules in the tumor, which can explain the high accumulation.

Chondromyxoid fibroma of the finger.

A 35-year-old man visited us with a chief complaint of painful swelling of the finger. A physical examination revealed a palpable mass, measuring approximately 2 cm×1 cm, on the dorsoradial side of the base of the middle phalanx of the right index finger (Fig. 1A). Upon history taking, we found that the mass had formed 7 to 8 years before and had since grown slowly. The mass had a firm, hard, discrete, and immobile consistency. An X-ray revealed a translucent, osteolytic lesion at the base of the middle phalanx; this lesion was eccentrically located to the cortex (Fig. 1B). The lesion was a mass with an ovoid shape and was parallel to the long axis of the bone; it had a slightly marginal sclerotic border. Moreover, it exhibited expansile growth to the adjacent soft tissue on the dorsoradial side. On the basis of these findings, we made a 2-cm straight, longitudinal incision on the radial side of the dorsum of the middle phalanx, thus confirming the presence of a bulging well-circumscribed cartilaginous-appearing mass (Fig. 2A). We performed an extensive, aggressive curettage of the lesion. The resulting bony defect was filled using iliac bone graft and screw fixation. In the resected specimen, there was a yellowish-white lobulated mass of 2 cm×1 cm×1 cm in size (Fig. 2B). On histopathological examination the mass mainly had a myxomatous appearance and was characterized by the lobular arrangement of stellate or spindle-shaped cells. The lobule was well circumscribed by fine fibrous septa and was composed of the central hypocellular area and the peripheral hypercellular area (Fig. 3). On the basis of these findings, we established a diagnosis of chondromyxoid fibroma (CMF). In the 15-month postoperative follow-up, the patient underwent an uneventful course without recurrent or metastatic episodes. Fig. 1 Preoperative findings. (A) Clinical photograph of the right index finger with a visible mass protruding from the dorsoradial side of the middle phalanx. (B) Preoperative anteroposterior X-ray film of the right index finger reveals radiolucent tumor in ... Fig. 2 Intraoperative findings. (A) Incision planning with exposure of the mass. (B) Resected specimen (2 cm×1 cm×1 cm). Fig. 3 Histopathology and immunohistochemistry findings. The tumor shows alternating hypocellular and hypercellular areas. The hypocellular areas form lobules composed of loosely arranged cells in the gray-blue chondromyxoid matrix and surrounded by hypercellular ... CMF was first described by Jaffe and Lichtenstein in 1948, and it is a rare, slowly growing benign bone tumor of cartilaginous origin. It accounts for less than 1% of all the primary bone tumors and less than 2% of benign bone tumors. Approximately 80% of the total cases occur in individuals aged 36 years or younger. There is no gender-related difference. To date, no definite etiologies have been documented. It is known that approximately 75% of the total cases of CMF affect the bones of the lower extremities. In particular, it occurs most frequently in the tibia and femur around the knee joint. Thus far, its incidence in the hand has been described to be very rare. Most cases of CMF typically originate from the metaphysis and may then extend to the epiphysis and diaphysis. The most common clinical manifestations of CMF include swelling and pain at the sites of primary tumor growth, but there are also some asymptomatic cases. Plain radiography shows that CMF has a round-to-oval medullary lesion with a well-defined margin and is parallel to the long axis of the bone. The tumor with a thin scalloped, sclerotic border has an eccentric location in the metaphysis and a translucent, osteolytic, bubbly appearance. Furthermore, it shows a slightly expansile growth to the adjacent soft tissue. For establishing the diagnosis of chondromyxoid fibroma, histopathological examinations are essential. In a nutshell, CMF is a firm, white, lobulated, well-circumscribed solid tumor mass that is sharply demarcated from the adjacent bone marrow. Light microscopy revealed that CMF is composed of three zones: myxomatous, fibrous, and chondroid zones. Histopathologically, it is characterized by the multilobular arrangement of stellate or spindle-shaped cells in an abundant myxoid background or chondroid intracellular material. These lobules are composed of the central hypocellular area and the peripheral hypercellular area. Surgical excision is the first-line choice for chondromyxoid fibroma, for which only simple curettage is performed or a bone graft is used for filling the cavitary defect following curettage. Although variable depending on the reports, the recurrence is estimated at approximately 25%. Postoperatively, regular follow-up including radiography is necessary. A good prognosis of CMF has been documented. In addition, it has been reported that CMF shows no distant metastasis [1,2,3,4,5].

Chondromyxoid Fibroma of the Calcaneus: Two Case Reports and Literature Review

Chondromyxoid fibroma occurs primarily in the long tubular bones of the lower extremity, with the foot representing the second most frequent location after the knee. This benign cartilaginous tumor of bone is currently the rarest reported neoplasm of cartilaginous origin. This mass can mimic other benign and malignant bone tumors owing to its variable histologic features. We report 2 cases of chondromyxoid fibroma of the calcaneus with varying presentations. Initially, advanced imaging studies pointed to a diagnosis of a unicameral bone cyst. Pathologic examination is difficult but can be used to differentiate this lesion from more serious conditions. A quick and accurate diagnosis of chondromyxoid fibroma can prevent unnecessary treatment that could be harmful to the patient.

Frequent expression of fibroblast growth factor-23 (FGF23) mRNA in aneurysmal bone cysts and chondromyxoid fibromas

Osteomalacia has multiple aetiologies including the least common, tumour-induced osteomalacia (TIO). Recently, most cases of TIO have been confirmed to be due to phosphaturic mesenchymal tumour of mixed connective tissue...

Cytodiagnosis of chondromyxoid fibroma

Chondromyxoid fibroma (CMF) is an unusual tumor that predominantly affects long bones of young adults. We present two cases of CMF that were diagnosed on cytology. The specific cytological features included varying combinations of chondroid, myxoid and fibroid elements. These features when correlated with clinico-radiological findings helped to arrive at a correct diagnosis. Thus a definitive diagnosis of CMF can be made on cytology based on which further line of treatment can be planned.

Chondromyxoid Fibroma of the Temporal Bone: Case Report and Review of the Literature

We describe the clinical presentation, imaging, and pathology results of a patient with chondromyxoid fibroma (CMF) involving the mastoid portion of the temporal bone. The literature covering CMF of the head and neck is reviewed. The patient chart, including imaging and pathology results, was analyzed. An English-language literature review of skull base CMF was performed. Eighty-seven cases of CMF involving the head and neck have been reported in the scientific literature. Sixty-two cases involved the skull base, temporal bone, nasal cavity, or paranasal sinuses. Including this patient, only 8 cases of CMF isolated to the temporal bone have been reported. Most patients experience insidious onset of symptoms such as hearing loss or headache. A computed tomographic scan best shows the relationship of the tumor to surrounding bone and may show intratumoral calcification. Surgical removal was the treatment most commonly used. Although irradiation has been used in selected cases, it is usually avoided because of the potential risk for malignant transformation. Chondromyxoid fibroma, a slow-growing bone tumor, is exceedingly rare within the mastoid. Its differential diagnosis includes chordoma, chondroid chordoma, and low-grade myxoid chondrosarcoma. Surgical excision is the treatment of choice.

Chondromyxoid fibromas: A study of 10 cases

Chondromyxoid fibroma (CMF) can be confused with a malignant tumor because of its potential for recurrence and occasional nuclear atypia. This study of 10 cases of CMF comprises 6 men and 4 women, with a mean age of 24.3 years. Tibia was the preferred site of involvement. The histology showed lobulated chondromyxoid matrix with peripheral fibrosis. Two cases had local recurrences following intralesional excision. The study emphasizes that despite nuclear atypia and recurrences, CMF is a benign disease.

Chondromyxoid fibroma of a metatarsal and cuneiform

The occurrence of chondromyxoid fibroma in the foot is relatively rare, and it is highly unusual for the lesion to involve the epiphysis. The authors report a case of a highly aggressive tumor occurring in the first metatarsal bone, crossing the epiphysis and invading the medial cuneiform bone. A literature search did not reveal previous cases of chondromyxoid fibroma in this unusual location.

Röntgenmorphologie des Chondromyxoidfibroms

29 cases of chondromyxoid fibroma (CMF) from the material submitted to the Bone Tumour Register in Münster were reviewed. The tumour was observed most frequently in the second and third decades of life, with a slight female preponderance in our series. The diaphyseal and metaphyseal regions of the lower limb were most commonly affected, with a particular predisposition for the knee. The lesions were located eccentrically in 71% showed cortical expansion in 72%, and pseudotrabeculation in 51% of cases. The lytic patterns were classified as Lodwick IA in 35%, as Lodwick IB in 45%, as Lodwick IC in 17% and as Lodwick II in 3% of cases. Due to the absence of characteristic radiographic features, the differential diagnosis from aneurysmal bone cyst, giant cell tumours and non-ossifying fibroma is often difficult. Radiographic findings would however indicate benignity and, therefore, help to differentiate the lesion from chondrosarcoma, to which it bears strong histological similarity.

Chondromyxoid Fibroma of the Proximal Phalanx. A Tumour that may be Confused with Chondrosarcoma

Chondromyxoid fibroma is a rare benign tumour of chondral origin. The diagnosis is difficult, but as Jaffe emphasized, “its recognition is of some importance in that pathologically it may be mistaken for sarcoma and, as such, treated more radically than is necessary” (Jaffe, 1948). Salzer (1965) found only 136 cases in the world literature since 1948 when Jaffe defined the criteria for their histological diagnosis. Only six cases of chondromyxoid fibroma have been reported involving the hand (Frank, Rockwood, 1969; Zatyepin, Klimova, Lipkin, Perety, 1979).

Chondromyxoid fibroma of the proximal phalanx. A tumour that may be confused with chondrosarcoma

Chondromyxoid fibroma is a rare benign tumour of chondral origin. The diagnosis is difficult, but as Jaffe emphasized, “its recognition is of some importance in that pathologically it may be mistaken for sarcoma and, as such, treated more radically than is necessary” (Jaffe, 1948). Salzer (1965) found only 136 cases in the world literature since 1948 when Jaffe defined the criteria for their histological diagnosis. Only six cases of chondromyxoid fibroma have been reported involving the hand (Frank, Rockwood, 1969; Zatyepin, Klimova, Lipkin, Perety, 1979).