The Experts below are selected from a list of 4941 Experts worldwide ranked by ideXlab platform
Maia Rocha - One of the best experts on this subject based on the ideXlab platform.
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synovial Chondromatosis and soft tissue Chondroma extraosseous cartilaginous tumor defined by fn1 gene rearrangement
Modern Pathology, 2019Co-Authors: Fernanda Amary, Luis Perezcasanova, Lucia Cottone, Annachristina Strobl, Paul Cool, Elena Miranda, Fitim Berisha, William Aston, Maia RochaAbstract:A fusion between fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) has been reported previously in isolated cases of the synovial Chondromatosis. To analyze further and validate the findings, we performed FISH and demonstrated recurrent FN1-ACVR2A rearrangements in synovial Chondromatosis (57%), and chondrosarcoma secondary to synovial Chondromatosis (75%), showing that FN1 and/or AVCR2A gene rearrangements do not distinguish between benign and malignant synovial Chondromatosis. RNA sequencing revealed the presence of the FN1-ACVR2A fusion in several cases that were negative by FISH suggesting that the true prevalence of this fusion is potentially higher than 57%. In soft tissue Chondromas, FN1 alterations were detected by FISH in 50% of cases but no ACVR2A alterations were identified. RNA sequencing identified a fusion involving FN1 and fibroblast growth factor receptor 2 (FGFR2) in the case of soft tissue Chondroma and FISH confirmed recurrent involvement of both FGFR1 and FGFR2. These fusions were present in a subset of soft tissue Chondromas characterized by grungy calcification, a feature reminiscent of phosphaturic mesenchymal tumor. However, unlike the latter, fibroblast growth factor 23 (FGF23) mRNA expression was not elevated in soft tissue Chondromas harboring the FN1-FGFR1 fusion. The mutual exclusivity of ACVR2A rearrangements observed in synovial Chondromatosis and FGFR1/2 in soft tissue Chondromas suggests these represent separate entities. There have been no reports of malignant soft tissue Chondromas, therefore differentiating these lesions will potentially alter clinical management by allowing soft tissue Chondromas to be managed more conservatively.
Bhushan Thakkar - One of the best experts on this subject based on the ideXlab platform.
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True Chondroma of the mandibular condyle: A rare case.
Annals of maxillofacial surgery, 2014Co-Authors: Rajesh B Dhirawani, Kavneet Anand, Gaurav Lalwani, Sanyog Pathak, Bhushan ThakkarAbstract:Chondroma of the mandibular condyle is a rare benign tumor, with just a handful of cases reported in the literature. Chondromas are rare in the maxillofacial region, but are quite common in the bones of the hands and feet. So far only eight cases of true Chondroma have been reported. Here, we present a case of true Chondroma of the mandibular condyle of the right side, for which condylectomy was done. No signs of recurrence are noted at 2 years follow-up.
Felix Mitelman - One of the best experts on this subject based on the ideXlab platform.
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Rearrangement of band q13 on both chromosomes 12 in a periosteal Chondroma
Genes Chromosomes and Cancer, 1993Co-Authors: Nils Mandahl, Helena Willén, Anders Rydholm, Sverre Heim, Felix MitelmanAbstract:Cytogenetic analysis of a recurrent periosteal Chondroma revealed nonreciprocal translocations of both chromosomal segments 12q13qter, from one chromosome 12 to 7q32 and from the homologous chromosome 12 to 16q22. The remaining parts of the two chromosomes 12 formed a dicentric chromosome. This is the second reported Chondroma with a 12q13-15 rearrangement, and changes of this chromosome region consequently seem to be nonrandom occurrences in Chondromas. © 1993 Wiley-Liss, Inc.
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rearrangement of band q13 on both chromosomes 12 in a periosteal Chondroma
Genes Chromosomes and Cancer, 1993Co-Authors: Nils Mandahl, Helena Willén, Anders Rydholm, Sverre Heim, Felix MitelmanAbstract:Cytogenetic analysis of a recurrent periosteal Chondroma revealed nonreciprocal translocations of both chromosomal segments 12q13-->qter, from one chromosome 12 to 7q32 and from the homologous chromosome 12 to 16q22. The remaining parts of the two chromosomes 12 formed a dicentric chromosome. This is the second reported Chondroma with a 12q13-15 rearrangement, and changes of this chromosome region consequently seem to be nonrandom occurrences in Chondromas.
Rajesh B Dhirawani - One of the best experts on this subject based on the ideXlab platform.
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True Chondroma of the mandibular condyle: A rare case.
Annals of maxillofacial surgery, 2014Co-Authors: Rajesh B Dhirawani, Kavneet Anand, Gaurav Lalwani, Sanyog Pathak, Bhushan ThakkarAbstract:Chondroma of the mandibular condyle is a rare benign tumor, with just a handful of cases reported in the literature. Chondromas are rare in the maxillofacial region, but are quite common in the bones of the hands and feet. So far only eight cases of true Chondroma have been reported. Here, we present a case of true Chondroma of the mandibular condyle of the right side, for which condylectomy was done. No signs of recurrence are noted at 2 years follow-up.
Aftab S Karim - One of the best experts on this subject based on the ideXlab platform.
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intracranial parafalcine Chondroma in a pregnant patient
Surgical Neurology International, 2012Co-Authors: Jacky T Yeung, Terry S Krznarich, Edilberto A Moreno, Apparao Mukkamala, Aftab S KarimAbstract:BACKGROUND Intracranial Chondromas are rare benign neoplasms. We report a patient incidentally diagnosed with an intracranial Chondroma during her second trimester. CASE DESCRIPTION A 22-year-old Caucasian was diagnosed with an incidental parafalcine lesion found during admission due to a motor vehicle accident. Prior to the admission, the patient did not present with any neurological symptom. Magnetic resonance spectroscopy (MRS) suggested this intracranial lesion to be benign. A decision was made to delay the tumor excision until after delivery. Special anesthesia considerations were made to maintain stable blood pressure and euvolemia during the Cesarean section. The patient underwent a successful gross total removal of the intracranial tumor two months postpartum without any post-operative deficit. CONCLUSION This is the first case report of an intracranial parafalcine Chondroma in pregnancy. This report highlights the disease course of this rare type of tumor during pregnancy. This case illustrates relevant aspects of the management of a neurologically asymptomatic patient with an incidentally discovered intracranial tumor of which MRS suggested a benign nature.