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Chondroblastoma

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https://www.readbyqxmd.com/read/28211081/h3f3a-mutation-in-giant-cell-tumour-of-the-bone-is-detected-by-immunohistochemistry-using-a-monoclonal-antibody-against-the-g34w-mutated-site-of-the-histone-h3-3-variant
#1
Julian Lüke, Alexandra von Baer, Jordan Schreiber, Christoph Lübbehüsen, Thomas Breining, Kevin Mellert, Ralf Marienfeld, Markus Schultheiss, Peter Möller, Thomas Fe Barth
AIMS: Giant cell tumour of bone (GCTB) is a neoplasm predominantly of long bones characterised by the H3F3A mutation G34W. Conventional diagnostic is challenged by the tumour's giant cell-rich morphology, which overlaps with other giant cell containing lesions of the bone. Recently, a monoclonal antibody specific for the H3F3A mutation has been generated. Our aim was to test this antibody on a cohort of giant cell containing lesions. METHODS AND RESULTS: We used the antibody for analysis of 22 H3F3A-mutated GCTB, including two patients with recurrences; for comparison we analysed a cohort of 36 H3F3A-wild-type giant cell-rich lesions of the bone and soft tissue, containing one brown tumour, six aneurysmal bone cysts, six chondroblastomas, five non-ossifying-fibromas, two fibrous dysplasias, nine tenosynovial giant cell tumours, one giant cell-rich sarcoma and six osteosarcomas...
February 17, 2017: Histopathology
https://www.readbyqxmd.com/read/28129023/probe-the-function-of-histone-lysine-36-methylation-using-histone-h3-lysine-36-to-methionine-mutant-transgene-in-mammalian-cells
#2
Dong Fang, Haiyun Gan, Heping Wang, Hui Zhou, Zhiguo Zhang
Chondroblastoma is a cartilaginous tumor that typically arises under 25 years of age (80%). Recent studies have identified a somatic and heterozygous mutation at the H3F3B gene in over 90% chondroblastoma cases, leading to a lysine 36 to methionine replacement (H3.3K36M). In human cells, H3F3B gene is one of two genes that encode identical H3.3 proteins. It is not known how H3.3K36M mutant proteins promote tumorigenesis. We and others have shown that, the levels of H3K36 di- and tri-methylation (H3K36me2/me3) are reduced dramatically in chondroblastomas and chondrocytes bearing the H3...
January 27, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28059095/h3f3-mutation-status-of-giant-cell-tumors-of-the-bone-chondroblastomas-and-their-mimics-a-combined-high-resolution-melting-and-pyrosequencing-approach
#3
Thibault Kervarrec, Christine Collin, Frédérique Larousserie, Corinne Bouvier, Sébastien Aubert, Anne Gomez-Brouchet, Béatrice Marie, Elodie Miquelestorena-Standley, Louis Romée Le Nail, Pierre Avril, Jean Christophe Pagès, Gonzague de Pinieux
Behjati et al recently described recurrent mutations of H3F3 genes in giant cell tumors of the bone and chondroblastomas. Both these entities belong to the spectrum of giant cell-rich bone lesions, often presenting a diagnostic challenge for the pathologist. Our aim was to investigate the value of searching for H3F3 mutations in the diagnosis of giant cell tumors of the bone and giant cell-rich chondroblastomas. Two hundred eighty-one bone lesion samples, including 170 giant cell tumors of the bone, 26 chondroblastomas and 85 other giant cell-rich and/or epiphyseal tumors, were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28056304/-intraoperative-cytological-diagnosis-of-chondroblastoma
#4
J J Xie, Y B Ren, Y Wang, F Liu, Y M Wang, F M Ren
No abstract text is available yet for this article.
December 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28018073/isolated-tubercular-osteomyelitis-of-acromion-a-case-report-and-review-of-literature
#5
Abhishek Kumar Sambharia, Anshul Goel, Yugal Karkhur, Anurag Tiwari, Sneha Sharma, Ankit Kataria
Tuberculosis is an infectious disease of public health interest, infecting one-third of the world population. Up to 3% of all Tubercular cases have musculoskeletal involvement with less than 1% involving the scapular. To the best of our knowledge, we present the third case of acromion involvement in reported literature. An adolescent female with complains of shoulder pain with no restriction of movements, no local symptoms, no fever, no history of tuberculosis was being treated on analgesics for three months at a primary health centre...
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28003165/exceptional-rare-giant-craniofacial-chondroid-tumor-in-adult
#6
Si Zhang, Bangsheng Jia, Hao Li, Chao You
We present a rare case of giant soap bubble-shaped cystic lesion in the craniofacial region in an adult female. Histopathologic examination revealed the tumor consisted of 3 components including chondroblastoma, chondromyxoid fibroma, and hemorrhagic aneurysmal bone cyst. The present case is rare in terms of size, location, and histopathologic diagnosis, which is probably the result of underdeveloped health care in the remote place.
December 18, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27966029/chondroblastoma-of-the-thoracic-spine-a-rare-location-case-report-with-radiologic-pathologic-correlation
#7
A Venkatasamy, M P Chenard, G Massard, J-P Steib, G Bierry
Chondroblastoma is a rare benign cartilage neoplasm that arises from the appendicular skeleton in the vast majority of the cases (80%). Chondroblastoma of the spine is an even more rare condition (30 cases reported), and vertebral chondroblastomas, unlike chondroblastomas of the extremities, present with the appearance of an aggressive tumor on CT and MR imaging and occur at least a decade later. Even though vertebral chondroblastomas are very uncommon tumors, they should nonetheless be included in the differential diagnosis when encountered with an aggressive vertebral mass, and a histological confirmation should be performed...
December 13, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27956080/a-rare-case-of-chondroblastoma-of-the-acromion
#8
Murat Arıkan, Güray Toğral, Ahmet Yıldırım, Çiğdem Irkkan
We present a 37-year-old patient with a chondroblastoma in his right acromion. The acromion is an unusual site for this type of tumor and the typical surgical treatment involves resection of the involved acromion bone. The patient was surgically treated with resection of the right acromion and autogenous iliac bone grafting. Twenty five months postoperatively, he demonstrated full shoulder function, without evidence of local recurrence or metastasis.
December 2016: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/27798068/massive-chondroblastoma-of-the-talus-treatment-with-en-bloc-talectomy-and-tibiocalcaneal-arthrodesis-long-term-follow-up-of-a-case
#9
Luis Bahamonde Munoz, Mario Escudero Heldt
: Chondroblastomas are benign bone tumors that are usually located at epiphyseal regions of long bones, and are rarely located at the talus. The usual treatment consists of curettage and filling of the bone defect with bone either bone grafts or some other material, such as cement. The authors present a case of a massive chondroblastma of the talus, extending outside of bone boundaries and with a huge soft tissue mass and invasion of the adjacent calcaneus. Management included an en bloc talectomy through a double medial and lateral approach, and curettage and filling with cement of the calcaneal extension...
October 25, 2016: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/27646893/-significance-of-satb2-in-the-pathologic-diagnosis-of-osteosarcoma
#10
M Li, Y P Cai, K Y Lu, Y Chen, X Zhu, Y Yin, J Tang
Objective: To investigate the role of SATB2 in the pathological diagnosis and differential diagnosis of osteosarcoma. Methods: Immunostaining of SATB2 was performed in 47 cases of osteosarcomas, 5 osteoblastomas, 4 fibrous dysplasias, 5 myositis ossificans, 10 chondroblastomas, 8 chondrosarcomas, 5 Ewing sarcomas, 5 undifferentiated pleomorphic sarcomas, 6 fibrosarcomas and 2 leiomyosarcomas. Results: All osteoblastomas (5/5) and myositis ossificans (5/5), 83.0%(39/47) of osteosarcomas and 2/10 of chondroblastomas showed nuclear immunoreactivity for SATB2...
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27526293/histologic-spectrum-of-giant-cell-tumor-gct-of-bone-in-patients-18-years-of-age-and-below-a-study-of-63-patients
#11
Alyaa Al-Ibraheemi, Carrie Y Inwards, Riyam T Zreik, Doris E Wenger, Sarah M Jenkins, Jodi M Carter, Jennifer M Boland, Peter S Rose, Long Jin, Andre M Oliveira, Karen J Fritchie
Although the majority of giant cell tumors (GCTs) of the bone occur in adult patients, occasionally they arise in the pediatric population. In this setting they may be mistaken for tumors more commonly seen in this age group, including osteosarcoma, aneurysmal bone cyst, and chondroblastoma. All cases of primary GCT of the bone arising in patients 18 years and below were retrieved from our institutional archives and examined with emphasis on the evaluation of various morphologic patterns. Clinical/radiologic records were reviewed when available...
December 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27523972/molecular-pathogenesis-and-diagnostic-prognostic-and-predictive-molecular-markers-in-sarcoma
#12
REVIEW
Adrián Mariño-Enríquez, Judith V M G Bovée
Sarcomas are infrequent mesenchymal neoplasms characterized by notable morphological and molecular heterogeneity. Molecular studies in sarcoma provide refinements to morphologic classification, and contribute diagnostic information (frequently), prognostic stratification (rarely) and predict therapeutic response (occasionally). Herein, we summarize the major molecular mechanisms underlying sarcoma pathogenesis and present clinically useful diagnostic, prognostic and predictive molecular markers for sarcoma...
September 2016: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/27504302/aneurysmal-bone-cyst-an-uncommon-secondary-event-in-calcaneal-chondroblastoma
#13
Sandip Barman, Preeti Diwaker, Divya Bansal, Neelam Wadhwa, Gurvinder Singh
Chondroblastoma is an uncommon benign bone tumour, involvement of epiphysis of long bones is typical. Chondroblastoma of the calcaneum is uncommon and its association with secondary aneurysmal bone cyst is even rarer. Only two cases of calcaneal chondroblastoma associated with secondary aneurysmal bone cyst have been reported till date. A 22-year-old male presented to the department of orthopaedics with complains of pain and swelling in the left heel since the last 10 months. On clinico-radiological grounds differentials considered were giant cell tumour of bone and aneurysmal bone cyst...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27474439/molecular-basis-for-oncohistone-h3-recognition-by-setd2-methyltransferase
#14
Shuang Yang, Xiangdong Zheng, Chao Lu, Guo-Min Li, C David Allis, Haitao Li
High-frequency point mutations of genes encoding histones have been identified recently as novel drivers in a number of tumors. Specifically, the H3K36M/I mutations were shown to be oncogenic in chondroblastomas and undifferentiated sarcomas by inhibiting H3K36 methyltransferases, including SETD2. Here we report the crystal structures of the SETD2 catalytic domain bound to H3K36M or H3K36I peptides with SAH (S-adenosylhomocysteine). In the complex structure, the catalytic domain adopts an open conformation, with the K36M/I peptide snuggly positioned in a newly formed substrate channel...
July 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/27473669/p63-expression-as-a-biomarker-discriminating-giant-cell-tumor-of-bone-from-other-giant-cell-rich-bone-lesions
#15
Tina Shooshtarizadeh, Mandana Rahimi, Sajjadeh Movahedinia
INTRODUCTION: Giant cell tumor of bone (GCTOB) is a locally aggressive neoplasm that accounts for 5% of all primary bone tumors. This tumor overlaps in histopathologic and radiographic presentations with different malignant, benign, and metabolic giant cell-rich lesions. The purpose of this study is to evaluate p63 expression status in giant cell tumor of bone in comparison with other giant cell-rich lesions. MATERIALS AND METHODS: In a cross-sectional study we examined immunohistochemical expression of p63 in a series of 100 giant cell-rich bone lesions, including 31 giant cell tumors of bone, 14 osteosarcomas (including 3 giant cell-rich variants), 18 aneurysmal bone cysts (including one solid variant), 8 non-ossifying fibromas, 17 chondroblastomas, 8 tenosynovial giant cell tumors, and 4 brown tumors...
October 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27458555/trochanter-calcar-preserving-reconstruction-in-tumors-involving-the-femoral-head-and-neck
#16
Hwan Seong Cho, Young-Kyun Lee, Yong-Chan Ha, Kyung-Hoi Koo
AIM: To evaluate the results of hip reconstruction with extensive excision for tumor confined to the femoral head and neck. METHODS: We designed a resection preserving the greater trochanter and lower portion of calcar femorale, and utilized conventional total hip prosthesis. We retrospectively reviewed 7 patients, who underwent a wide resection and reconstruction using conventional hip prosthesis. There were 3 men and 4 women and their mean age was 42.5 years (22 to 65 years)...
July 18, 2016: World Journal of Orthopedics
https://www.readbyqxmd.com/read/27443518/characterization-of-fn1-fgfr1-and-novel-fn1-fgf1-fusion-genes-in-a-large-series-of-phosphaturic-mesenchymal-tumors
#17
Jen-Chieh Lee, Sheng-Yao Su, Chun A Changou, Rong-Sen Yang, Keh-Sung Tsai, Michael T Collins, Eric S Orwoll, Chung-Yen Lin, Shu-Hwa Chen, Shyang-Rong Shih, Cheng-Han Lee, Yoshinao Oda, Steven D Billings, Chien-Feng Li, G Petur Nielsen, Eiichi Konishi, Fredrik Petersson, Thomas O Carpenter, Kesavan Sittampalam, Hsuan-Ying Huang, Andrew L Folpe
Phosphaturic mesenchymal tumors typically cause paraneoplastic osteomalacia, chiefly as a result of FGF23 secretion. In a prior study, we identified FN1-FGFR1 fusion in 9 of 15 phosphaturic mesenchymal tumors. In this study, a total of 66 phosphaturic mesenchymal tumors and 7 tumors resembling phosphaturic mesenchymal tumor but without known phosphaturia were studied. A novel FN1-FGF1 fusion gene was identified in two cases without FN1-FGFR1 fusion by RNA sequencing and cross-validated with direct sequencing and western blot...
July 22, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27339705/epigenetics-histone-mutations-reprogramme-chondroblastoma
#18
Sarah Seton-Rogers
No abstract text is available yet for this article.
July 2016: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/27299121/chondroblastoma-of-the-medial-malleolus-a-case-report-of-a-rare-tumor-at-an-extremely-uncommon-site
#19
Mukesh Tiwari, Hemant Chaturvedi, Vaibhav Patel, Rajarshi Matti
INTRODUCTION: Tumors of the medial malleolus are rare. Chondrogenic tumors of the medial malleolus are extremely rare. Chondroblastoma of the medial malleolus has not been reported previously in the English literature. The purpose is to present a rare tumor occurring at an unusual site and its successful management. CASE PRESENTATION: We report a case of a 30 years old female with chondroblastoma of the medial malleolus with its clinical features, radiographic features, differential diagnosis, and management at an unusual site...
January 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/27233920/-cartilage-tumors-pathology-and-radiomorphology
#20
M Uhl, G Herget, P Kurz
Primary cartilage-forming tumors of the bone are frequent entities in the daily work of skeletal radiologists. This article describes the correlation of pathology and radiology in cartilage-forming skeletal tumors, in particular, enchondroma, osteochondroma, periosteal chondromas, chondroblastoma and various forms of chondrosarcoma. After reading, the radiologist should be able to deduce the different patterns of cartilage tumors on radiographs, CT, and MRI from the pathological aspects. Differentiation of enchondroma and chondrosarcoma is a frequent diagnostic challenge...
June 2016: Der Radiologe
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