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Ortopedia, Traumatologia, Rehabilitacja Oct 2020Ollier disease is a rare congenital disease in which multiple enchondromas occur. The tumors can transform to malignant chondrosarcomas of various histologic grades. The...
Ollier disease is a rare congenital disease in which multiple enchondromas occur. The tumors can transform to malignant chondrosarcomas of various histologic grades. The patient we described has been treated in our orthopedic department six times, always being referred on account of new lesions. The tumors were excised with margins of healthy tissue. Each tumor was subjected to a histological examination to determine its type and grade. Chondroid tumors should be diagnosed carefully, because the treatment depends on their histologic features. If surgery is performed, removal of the tumor with a margin of healthy tissue is crucial for the patient's well-being and good prognosis.
Topics: Adult; Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Humans; Male; Poland; Treatment Outcome
PubMed: 33568569
DOI: 10.5604/01.3001.0014.4227 -
Skeletal Radiology Aug 2021To identify magnetic resonance imaging (MRI) features which aid differentiation of low-grade chondral tumours (LGCT-enchondroma and grade 1 chondrosarcoma) from...
OBJECTIVE
To identify magnetic resonance imaging (MRI) features which aid differentiation of low-grade chondral tumours (LGCT-enchondroma and grade 1 chondrosarcoma) from high-grade chondral tumours (HGCT) in patients with enchondromatosis.
MATERIALS AND METHOD
Approval from our local Research and Innovation Centre of The Institute of Orthopaedics was gained. Patients with enchondromatosis who had biopsy and/or resection of chondral lesions over a 13-year period were identified. The pre-biopsy MRI study was assessed by two experienced musculoskeletal radiologists for tumour origin (intramedullary or surface), cortical expansion, cortical destruction, bone marrow oedema, periosteal reaction, soft tissue mass and soft tissue oedema. MRI features were compared with the final histopathological diagnosis.
RESULTS
The study group comprised 25 males and 16 females, with a mean age of 34.9 years (range 6-81 years). Fifty-nine lesions were assessed (12 patients had > 1 tumour treated), including 43 LGCT and 16 HGCT. Significant MRI features suggesting malignant transformation to HGCT for both observers included bone oedema (p = < 0.001 and 0.002), periosteal reaction (p = 0.01) and soft tissue oedema (p = 0.001 and 0.05). Cortical destruction and soft tissue mass were predictors of HGCT in major long bones, but no significant differentiating features were identified in the hands and feet.
CONCLUSION
The presence of bone oedema, periosteal reaction and soft tissue oedema on MRI may indicate a high-grade malignant transformation of chondral tumours in patients with enchondromatosis.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Bone Neoplasms; Child; Chondroma; Chondrosarcoma; Enchondromatosis; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Young Adult
PubMed: 33484272
DOI: 10.1007/s00256-021-03718-7 -
American Journal of Medical Genetics.... Apr 2021
Topics: Adult; Bone Neoplasms; Enchondromatosis; Female; Genetic Predisposition to Disease; Humans; Isocitrate Dehydrogenase; Male
PubMed: 33433055
DOI: 10.1002/ajmg.a.62078 -
Neurology India 2020We present a rare case of spinal enchondromatosis in a 15-year-old boy. The patient presented with spastic paraparesis. He also had multiple bony swellings over the long...
We present a rare case of spinal enchondromatosis in a 15-year-old boy. The patient presented with spastic paraparesis. He also had multiple bony swellings over the long bones. On inquiry it was found that his father had enchondromatosis. Such a familial form of enchondromatosis has not been previously described in the literature.
Topics: Adolescent; Chondroma; Enchondromatosis; Humans; Male; Rare Diseases; Spine
PubMed: 33342888
DOI: 10.4103/0028-3886.304070 -
Current Osteoporosis Reports Feb 2021Enchondroma is a common cartilage benign tumor that develops from dysregulation of chondrocyte terminal differentiation during growth plate development. Here we provide... (Review)
Review
PURPOSE OF REVIEW
Enchondroma is a common cartilage benign tumor that develops from dysregulation of chondrocyte terminal differentiation during growth plate development. Here we provide an overview of recent progress in understanding causative mutations for enchondroma, dysregulated signaling and metabolic pathways in enchondroma, and the progression from enchondroma to malignant chondrosarcoma.
RECENT FINDINGS
Several signaling pathways that regulate chondrocyte differentiation are dysregulated in enchondromas. Somatic mutations in the metabolic enzymes isocitrate dehydrogenase 1 and 2 (IDH1/2) are the most common findings in enchondromas. Mechanisms including metabolic regulation, epigenetic regulation, and altered signaling pathways play a role in enchondroma formation and progression. Multiple pathways regulate growth plate development in a coordinated manner. Deregulation of the process can result in chondrocytes failing to undergo differentiation and the development of enchondroma.
Topics: Bone Neoplasms; Cell Differentiation; Chondrosarcoma; Disease Progression; Enchondromatosis; Epigenesis, Genetic; Growth Plate; Humans; Signal Transduction
PubMed: 33306166
DOI: 10.1007/s11914-020-00639-7 -
Clinical and Experimental Allergy :... Apr 2021Several studies have shown an association between severe asthma and serum immunoglobulins E (IgE) against Staphylococcus aureus enterotoxins (SEs). SEs-the prototypes...
BACKGROUND
Several studies have shown an association between severe asthma and serum immunoglobulins E (IgE) against Staphylococcus aureus enterotoxins (SEs). SEs-the prototypes being types A (SEA), B (SEB) and toxic shock syndrome toxin 1 (TSST-1)-can induce both polyclonal and specific IgE responses.
OBJECTIVE
The aim of the study was to evaluate the ability of SEs to induce basophil activation in severe asthmatic patients using the basophil activation test (BAT).
METHODS
57 severe asthmatic patients were enrolled. BAT in response to SEA, SEB and TSST-1 was performed in all patients, while serum IgE to SEA, SEB and SEC was available in 49 patients. BAT was considered positive when CD203c+ basophils to SEs were ≥5%, and the stimulation index (SI, ratio between % of CD203c+ basophils to SEs and to negative control) was >2. Two threshold values (>0.1 kU/L and >0.35 kU/L, respectively) were used to assess serum SEsIgE.
RESULTS
36.8% of severe asthmatic patients had a BAT positive for at least one SE (BAT SEs+). Serum SEsIgE >0.35 kU/L (SEs IgE+) was associated with BAT SEs positivity. Among patients with negative skin prick test, 35% were BAT SEs+, 30% SEs IgE+, 55% BAT or IgE- SEs+. A negative correlation between SI of BAT to SEs and both clinical (ACT score) and functional parameters was observed, together with a positive correlation of BAT with asthma exacerbations.
CONCLUSIONS
The positivity of BAT for SEs in a subgroup of severe asthmatic patients further supports the pathogenic role of Staphylococcus aureus in severe asthma.
Topics: Adult; Aged; Asthma; Bacterial Toxins; Basophil Degranulation Test; Enterotoxins; Female; Humans; Immunoglobulin E; Male; Middle Aged; Severity of Illness Index; Skin Tests; Staphylococcus aureus; Superantigens
PubMed: 33131112
DOI: 10.1111/cea.13772 -
Virchows Archiv : An International... Jul 2021Tumour-to-tumour metastasis is very unusual and has been defined as a tumour metastasis into another histologically different tumour. It is extremely rare in bone. We... (Review)
Review
Tumour-to-tumour metastasis is very unusual and has been defined as a tumour metastasis into another histologically different tumour. It is extremely rare in bone. We report a case of lung squamous cell carcinoma metastasized to an enchondroma in the femur of a patient with Ollier disease. A 60-year-old female had a history of a poorly differentiated squamous cell carcinoma of the lung. She underwent a video-assisted thoracoscopic lobectomy, and a follow-up MRI scan showed three lesions in the left distal femur and proximal tibia, which were initially interpreted as metastasis on radiology. Resection of the left proximal tibial lesion was performed, and the pathological findings were consistent with enchondroma with no evidence of metastasis. Subsequent curettage of lesions in the distal left femur revealed metastatic poorly differentiated carcinoma with foci of hyaline cartilage, which was most consistent with metastatic carcinoma in a pre-existing enchondroma. The MRI films were re-reviewed. Characteristic MRI features of enchondroma were found in the lesion in the left proximal tibia and one of the lesions in the left distal femur, while the features of the other lesion in the left distal femur included cortical destruction and extensive oedema in surrounding soft tissue, which were consistent with a malignant tumour. In addition, the enchondroma in the lateral condyle showed blurring and irregular inner margin and adjacent bone oedema, which likely represents a co-existing metastatic tumour and enchondroma. The difference in lineage was confirmed by immunohistochemistry. The final diagnosis was metastatic poorly differentiated carcinoma of the lung into a co-existent enchondroma. The diagnosis can be challenging and could be easily overlooked both radiologically and histologically. Thorough clinical and radiological information is critical for the diagnosis, and despite a very unusual event, awareness of the tumour-to-tumour metastasis phenomenon can avoid an inaccurate diagnosis by the pathologist, therefore preventing inappropriate clinical intervention.
Topics: Biopsy; Carcinoma, Squamous Cell; Chondroma; Diagnosis, Differential; Enchondromatosis; Female; Femoral Neoplasms; Femur; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Middle Aged; Pneumonectomy; Predictive Value of Tests; Thoracic Surgery, Video-Assisted; Tomography, X-Ray Computed
PubMed: 33047157
DOI: 10.1007/s00428-020-02936-z -
Journal of Clinical Pathology Oct 2020() encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an... (Review)
Review
() encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis. mutations have been described in a number of neoplasms most notably low-grade diffuse gliomas, conventional central and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Post zygotic somatic mutations of characterise the majority of cases of Ollier disease and Maffucci syndrome. mutations are uncommon in epithelial neoplasia but have been described in cholangiocarcinoma.
Topics: Carcinogenesis; Cell Transformation, Neoplastic; Genetic Predisposition to Disease; Humans; Isocitrate Dehydrogenase; Neoplasms
PubMed: 32727816
DOI: 10.1136/jclinpath-2020-206813 -
Rheumatology International Nov 2020Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis,... (Review)
Review
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and immune dysregulation. Spasticity, developmental delay and intracranial calcification are main neurologic abnormalities. Large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders with autoimmune thrombocytopenia and systemic lupus erythematosus as the most common phenotypes. SPENCD is caused by loss of tartrate-resistant acid phosphatase (TRAP) activity, due to homozygous mutations in ACP5, playing a role in non-nucleic acid-related stimulation/regulation of the type I interferon pathway. We present two siblings, 13-year-old girl and 25-year-old boy with SPENCD, from consanguineous parents. Both patients had short stature, platyspondyly, metaphyseal changes, spastic paraparesis, mild intellectual disability, and juvenile-onset SLE. The age at disease-onset was 2 years for girl and 19 years for boy. Both had skin and mucosa involvement. The age at diagnosis of SLE was 4 years for girl, and 19 years for boy. The clinical diagnosis of SPENCD was confirmed by sequencing of ACP5 gene, which revealed a homozygous c.155A > C (p.K52T), a variant reported before as pathogenic. Juvenile-onset SLE accounts for about 15-20% of all SLE cases. But, the onset of SLE before 5-years of age and also monogenic SLE are rare. Our case report and the literature review show the importance of multisystemic evaluation in the diagnosis of SPENCD and to remind the necessity of investigating the monogenic etiology in early-onset and familial SLE cases.
Topics: Adolescent; Adult; Age of Onset; Antirheumatic Agents; Autoimmune Diseases; Brain Diseases; Calcinosis; Female; Humans; Immunologic Deficiency Syndromes; Intellectual Disability; Lupus Erythematosus, Systemic; Male; Osteochondrodysplasias; Paraparesis, Spastic; Siblings; Tartrate-Resistant Acid Phosphatase
PubMed: 32691099
DOI: 10.1007/s00296-020-04653-x -
RoFo : Fortschritte Auf Dem Gebiete Der... Oct 2020
Topics: Diagnosis, Differential; Enchondromatosis; Female; Fingers; Hand; Hemangioma, Cavernous; Humans; Middle Aged; Thumb
PubMed: 32643771
DOI: 10.1055/a-1157-9591