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  1. Article ; Online: Atypical Spindle Cell/Pleomorphic Lipomatous Tumor.

    Qorbani, Amir / Horvai, Andrew

    Surgical pathology clinics

    2023  Volume 17, Issue 1, Page(s) 97–104

    Abstract: Atypical spindle cell/pleomorphic lipomatous tumor (ASCPLT) is a rare soft tissue neoplasm, commonly arising in the subcutis (more common than deep soft tissue) of limbs and limb girdles during mid-adulthood. ASCPLT is histologically a lipogenic neoplasm ...

    Abstract Atypical spindle cell/pleomorphic lipomatous tumor (ASCPLT) is a rare soft tissue neoplasm, commonly arising in the subcutis (more common than deep soft tissue) of limbs and limb girdles during mid-adulthood. ASCPLT is histologically a lipogenic neoplasm with ill-defined margins composed of a variable amount of spindle to pleomorphic/multinucleated cells within a fibromyxoid stroma. ASCPLTs lack MDM2 amplification, but a large subset show RB1 deletion and variable expression of CD34. Though initially thought to be the malignant form of spindle cell lipoma, ASCPLTs are benign with local recurrences (∼10-15%) and no well-documented dedifferentiation or metastasis.
    MeSH term(s) Humans ; Adult ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Liposarcoma/diagnosis ; Liposarcoma/genetics ; Lipoma/diagnosis ; Lipoma/genetics ; Lipoma/pathology ; Soft Tissue Neoplasms/diagnosis ; Soft Tissue Neoplasms/genetics ; Soft Tissue Neoplasms/pathology
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2023-08-23
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 1875-9157
    ISSN (online) 1875-9157
    DOI 10.1016/j.path.2023.07.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Sarcomatous Transformation of a Medically Treated Lactotroph Pituitary Neuroendocrine Tumor?

    Terry, Merryl / Reis, Gerald / Horvai, Andrew / Pekmezci, Melike / Perry, Arie

    Endocrine pathology

    2023  Volume 34, Issue 1, Page(s) 161–163

    MeSH term(s) Humans ; Lactotrophs/pathology ; Neuroendocrine Tumors/therapy ; Neuroendocrine Tumors/pathology ; Pituitary Neoplasms/therapy ; Pituitary Neoplasms/pathology ; Pituitary Gland/pathology ; Pituitary Diseases ; Sarcoma/pathology
    Language English
    Publishing date 2023-02-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1033267-4
    ISSN 1559-0097 ; 1046-3976
    ISSN (online) 1559-0097
    ISSN 1046-3976
    DOI 10.1007/s12022-023-09757-1
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  3. Book: Bone and soft tissue pathology

    Horvai, Andrew E. / Link, Thomas Marc

    (High-yield pathology ; Expert consult)

    2012  

    Author's details Andrew E. Horvai ; radiology ed. Thomas Link
    Series title High-yield pathology
    Expert consult
    Keywords Bone Diseases / pathology ; Soft Tissue Neoplasms / pathology
    Language English
    Size XIV, 466 S. : überw. Ill.
    Edition 1. ed.
    Publisher Elsevier Saunders
    Publishing place Philadelphia, Pa
    Publishing country United States
    Document type Book
    Note Includes index
    Accompanying material Zugang zur Internetausgabe über Code
    HBZ-ID HT017134198
    ISBN 978-1-4377-2520-9 ; 1-4377-2520-1
    Database Catalogue ZB MED Medicine, Health

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    2012 A 807 order for loan Magazin
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  4. Article ; Online: MDM2 Gene Amplification and Expression of MDM2 and CDK4 are Rare in Ossifying Fibroma of Craniofacial Bones.

    Bahceci, Dorukhan H / Jordan, Richard C K / Horvai, Andrew E

    Head and neck pathology

    2022  Volume 16, Issue 4, Page(s) 991–997

    Abstract: Ossifying fibroma of the craniofacial bones is a fibro-osseous lesion characterized by varied patterns of bone formation in a fibroblastic stroma. Ossifying fibroma is a putatively benign lesion with no reports of malignant transformation or metastasis. ... ...

    Abstract Ossifying fibroma of the craniofacial bones is a fibro-osseous lesion characterized by varied patterns of bone formation in a fibroblastic stroma. Ossifying fibroma is a putatively benign lesion with no reports of malignant transformation or metastasis. Differentiation from other fibro-osseous lesions can be challenging necessitating synthesis of clinical, radiological and pathological findings. The molecular pathogenesis of ossifying fibroma is poorly understood but recent studies have reported MDM2 gene amplification and chromosomal copy number changes in a subset of ossifying fibromas. MDM2 amplification in ossifying fibroma, if true, presents a diagnostic problem because this genetic event, at least among craniofacial fibro-osseous lesions, was previously considered specific for low-grade osteosarcoma. In the present study, we investigated the utility of MDM2 and CDK4 immunohistochemistry, and fluorescence in situ hybridization for MDM2 gene amplification, in the diagnosis of 44 craniofacial bone ossifying fibromas. Focal MDM2 and CDK4 nuclear immunoreactivity was found in 11 and 1 ossifying fibromas, respectively, but none demonstrated MDM2 amplification by fluorescence in situ hybridization. A single tumor displayed MDM2 amplification without nuclear immunoreactivity to either MDM2 or CDK4. Our data suggest that while focal MDM2 and CDK4 nuclear expression may be detected in a minority of ossifying fibromas, this expression does not correlate with MDM2 amplification. In addition, MDM2 amplification is extremely rare in ossifying fibroma so the detection of this genetic abnormality should continue to raise concern for osteosarcoma.
    MeSH term(s) Humans ; In Situ Hybridization, Fluorescence ; Gene Amplification ; Proto-Oncogene Proteins c-mdm2/genetics ; Cyclin-Dependent Kinase 4/genetics
    Chemical Substances MDM2 protein, human (EC 2.3.2.27) ; Proto-Oncogene Proteins c-mdm2 (EC 2.3.2.27) ; CDK4 protein, human (EC 2.7.11.22) ; Cyclin-Dependent Kinase 4 (EC 2.7.11.22)
    Language English
    Publishing date 2022-05-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2407834-7
    ISSN 1936-0568 ; 1936-055X
    ISSN (online) 1936-0568
    ISSN 1936-055X
    DOI 10.1007/s12105-022-01454-5
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  5. Article ; Online: Calcifying fibrous tumor: a rare case in the foot.

    Bharadwaj, Upasana Upadhyay / Akkaya, Zehra / Horvai, Andrew E / Link, Thomas M / Gassert, Felix Gerhard

    Skeletal radiology

    2023  Volume 52, Issue 8, Page(s) 1619–1623

    Abstract: Calcifying fibrous tumor is a rare fibroblastic tumor with distinctive histological presentation that shows benign characteristics. To our knowledge, there are no prior reports that have documented imaging findings of calcifying fibrous tumor in the ... ...

    Abstract Calcifying fibrous tumor is a rare fibroblastic tumor with distinctive histological presentation that shows benign characteristics. To our knowledge, there are no prior reports that have documented imaging findings of calcifying fibrous tumor in the distal lower extremity. We report the case of a 25-year-old man who presented with a mass in the medial aspect of the right foot that was first noted 4 years earlier. Medical attention was sought due to perceived increase in size as well as increasing pain in the right foot. The patient had no limitations in activity but reported worsening discomfort while walking. An anteroposterior radiograph obtained at first presentation demonstrated a large calcified soft mass in the medial aspect of the foot. Contrast-enhanced MRI showed a mildly enhancing 6.5 cm × 2.5 cm × 8.5 cm mass, hypointense on T1- and T2-weighted images, infiltrating the adjacent abductor hallucis and flexor digitorum brevis muscles. Histopathology demonstrated multiple irregular fragments of white-tan firm tissue with a gritty cut surface, positive for CD34 on immunohistochemistry and consistent with calcifying fibrous tumor. Although rare in the extremities, this diagnosis should be considered in patients with a calcifying soft tissue mass. Low signal intensity with low-grade enhancement on MRI as well as stable disease course could prompt a diagnosis of calcifying fibrous tumor even in previously unmanifested locations.
    MeSH term(s) Male ; Humans ; Adult ; Calcinosis/diagnostic imaging ; Calcinosis/pathology ; Neoplasms, Fibrous Tissue/diagnostic imaging ; Neoplasms, Fibrous Tissue/surgery ; Foot/diagnostic imaging ; Foot/pathology ; Radiography ; Magnetic Resonance Imaging
    Language English
    Publishing date 2023-01-25
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 527592-1
    ISSN 1432-2161 ; 0364-2348
    ISSN (online) 1432-2161
    ISSN 0364-2348
    DOI 10.1007/s00256-023-04282-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing.

    Bahceci, Dorukhan H / Grenert, James P / Jordan, Richard C K / Horvai, Andrew E

    Head and neck pathology

    2023  Volume 17, Issue 3, Page(s) 722–730

    Abstract: Background: Ossifying fibroma (OF) of the craniofacial skeleton is a fibro-osseous lesion characterized by various patterns of bone formation in a cellular fibroblastic stroma. The molecular landscape of OF remains mostly unknown. There are a few known ... ...

    Abstract Background: Ossifying fibroma (OF) of the craniofacial skeleton is a fibro-osseous lesion characterized by various patterns of bone formation in a cellular fibroblastic stroma. The molecular landscape of OF remains mostly unknown. There are a few known pathogenic abnormalities in OF, including HRPT2 mutations in conventional OF and SATB2 translocations in juvenile psammomatoid OF. On the other hand, conflicting reports exist regarding MDM2 gene amplification and chromosomal copy number alterations (CNA) in OF.
    Methods: Surgically removed biopsies and curettage specimens from OF patients were obtained. Clinical, radiographic, and pathologic features of tumors were reviewed. Genomic DNA was extracted from formalin-fixed, paraffin-embedded blocks of tumor tissue. Capture-based DNA next-generation sequencing targeting the coding regions 529 cancer genes and select introns was performed.
    Results: We identified 17 OF cases from 8 male and 8 female patients with mean age of 22 years (range 1-58 years). Nine case occurred in the gnathic bones and 8 in the extragnathic craniofacial bones. These cases included 3 juvenile psammomatoid OF, 6 conventional OF and 8 juvenile trabecular OF. Large-scale CNAs were present in 6 of 17 cases. Seven cases (41%) had focal amplifications including FOSB (n = 2, 11%), FOS (n = 4, 23%), COL1A1 (n = 4, 23%) and TBX3 (n = 5, 29%). Three cases (17%) had pathogenic CDC73 mutations. No cases showed focal MDM2 amplification.
    Conclusions: Here, we provided a comprehensive molecular characterization of OF that reveals a heterogeneous genetic profile with occasional large-scale CNAs (n = 6, 35%). FOS, FOSB, and TBX3 genes that regulate AP-1 transcriptional complex are frequently altered in OF (n = 7, 41%), chiefly in juvenile trabecular OF. These genes encode transcription factors that act as downstream effectors of the MAP kinase signaling pathway. MDM2 amplification is an exceedingly rare event in OF, if present at all, so identification of this event should continue to raise concern for low-grade gnathic osteosarcoma. In summary, our findings suggest that OF represents a heterogeneous group of tumors at the genetic level but dysregulation of the AP-1 pathway may play a role in pathogenesis of juvenile trabecular OF.
    MeSH term(s) Humans ; Male ; Female ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Fibroma, Ossifying/genetics ; Fibroma, Ossifying/pathology ; Genetic Profile ; Transcription Factor AP-1 ; Skull Neoplasms ; Bone Neoplasms ; Soft Tissue Neoplasms ; High-Throughput Nucleotide Sequencing ; Genomics
    Chemical Substances Transcription Factor AP-1
    Language English
    Publishing date 2023-03-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2407834-7
    ISSN 1936-0568 ; 1936-055X
    ISSN (online) 1936-0568
    ISSN 1936-055X
    DOI 10.1007/s12105-022-01523-9
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  7. Article ; Online: Soft Tissue Special Issue: Gnathic Fibro-Osseous Lesions and Osteosarcoma.

    Hameed, Meera / Horvai, Andrew E / Jordan, Richard C K

    Head and neck pathology

    2020  Volume 14, Issue 1, Page(s) 70–82

    Abstract: Gnathic fibro-osseous lesions are a diverse group of disease processes which share overlapping microscopic features characterized by fibroblastic stroma with variable cellularity and a range of bone forming pathological processes leading to woven, ... ...

    Abstract Gnathic fibro-osseous lesions are a diverse group of disease processes which share overlapping microscopic features characterized by fibroblastic stroma with variable cellularity and a range of bone forming pathological processes leading to woven, sclerotic and cementum-like structures. Some of the lesions are unique to craniofacial location and a combination of clinical, radiological and pathological correlation is often necessary for diagnostic accuracy. Gnathic osteosarcomas are rare tumors with differences in age distribution and behavior as compared to osteosarcoma of long bones. This review will discuss the clinicopathological and radiological features of gnathic fibro-osseous lesions and osteosarcoma with updates on current genetics and molecular pathogenesis.
    MeSH term(s) Cementoma/pathology ; Fibroma, Ossifying/pathology ; Fibrous Dysplasia of Bone/pathology ; Head and Neck Neoplasms/pathology ; Humans ; Osteomyelitis/pathology ; Osteosarcoma/pathology
    Language English
    Publishing date 2020-01-16
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2407834-7
    ISSN 1936-0568 ; 1936-055X
    ISSN (online) 1936-0568
    ISSN 1936-055X
    DOI 10.1007/s12105-019-01094-2
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  8. Article ; Online: Primary osteosarcoma of the parietal bone.

    Ramezanpour, Sara / Horvai, Andrew E / Piawah, Sorbarikor / Link, Thomas M

    Skeletal radiology

    2021  Volume 50, Issue 8, Page(s) 1729–1733

    Abstract: Osteosarcoma is the most common primary bone tumor and usually involves the long bones. Osteosarcoma of the skull, on the other hand, is relatively rare. Here, we present a 29-year-old man with a growing mass in the skull he first noticed after a fall ... ...

    Abstract Osteosarcoma is the most common primary bone tumor and usually involves the long bones. Osteosarcoma of the skull, on the other hand, is relatively rare. Here, we present a 29-year-old man with a growing mass in the skull he first noticed after a fall while skateboarding. The initial clinical diagnosis was hematoma. While undergoing an evacuation surgery for a hematoma, a suspicious mass was detected which was biopsied. Histopathological evaluation showed high-grade osteosarcoma. The patient was referred to our hospital where he underwent definitive resection followed by adjuvant chemotherapy. His course was complicated by wound infection. Even though osteosarcoma of the skull is a rare finding, it should be suspected in a patient with a skull mass, and the history of prior head trauma does not exclude the diagnosis.
    MeSH term(s) Adult ; Bone Neoplasms/diagnostic imaging ; Bone Neoplasms/surgery ; Humans ; Male ; Osteosarcoma/diagnostic imaging ; Osteosarcoma/surgery ; Parietal Bone/diagnostic imaging ; Parietal Bone/surgery ; Sarcoma ; Skull Neoplasms/diagnostic imaging ; Skull Neoplasms/surgery
    Language English
    Publishing date 2021-02-19
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 527592-1
    ISSN 1432-2161 ; 0364-2348
    ISSN (online) 1432-2161
    ISSN 0364-2348
    DOI 10.1007/s00256-021-03726-7
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  9. Article ; Online: Hematolymphoid Neoplasms Rarely Mimic Undifferentiated Pleomorphic Sarcoma of Soft Tissue.

    Cannatella, John / Ganapathi, Karthik / Horvai, Andrew

    Archives of pathology & laboratory medicine

    2020  Volume 144, Issue 12, Page(s) 1547–1552

    Abstract: Context.—: Undifferentiated pleomorphic sarcoma (UPS) of soft tissue is defined as a sarcoma with no recognizable line of differentiation. During the past few decades, advances in ancillary studies and review of prior UPS diagnoses have narrowed the ... ...

    Abstract Context.—: Undifferentiated pleomorphic sarcoma (UPS) of soft tissue is defined as a sarcoma with no recognizable line of differentiation. During the past few decades, advances in ancillary studies and review of prior UPS diagnoses have narrowed the category of UPS by excluding more-specific malignancies. However, few of those studies have specifically targeted pleomorphic hematolymphoid neoplasms.
    Objective.—: To determine what fraction of UPS cases are misclassified pleomorphic hematolymphoid neoplasms, such as anaplastic large cell lymphoma, diffuse large B-cell lymphoma, histiocytic sarcoma (HS), myeloid sarcoma, and follicular dendritic cell sarcoma.
    Design.—: Sixty-one UPS cases were screened by tissue microarray and an immunostain panel with subsequent analysis on whole block sections for suspicious cases.
    Results.—: Five of 61 tumors (8%) were suggestive of HS based on the screening panel and were further evaluated with additional immunostains (PU.1, CD45, CD163) using whole sections. The 5 candidate HS cases were only focally positive for at most one stain with most staining in smaller, less-pleomorphic cells. Ultimately, no UPS met criteria for anaplastic large cell lymphoma, diffuse large B-cell lymphoma, myeloid sarcoma, follicular dendritic cell sarcoma, or HS.
    Conclusions.—: Our results suggest that a UPS of somatic soft tissue is unlikely to represent a misclassified hematopoietic malignancy. Exclusion of HS is most challenging, but immunostaining for PU.1, a nuclear transcription factor, may be easier to interpret in this context.
    MeSH term(s) Dendritic Cell Sarcoma, Follicular/classification ; Dendritic Cell Sarcoma, Follicular/pathology ; Hematologic Neoplasms/classification ; Hematologic Neoplasms/pathology ; Histiocytic Sarcoma/classification ; Histiocytic Sarcoma/pathology ; Humans ; Lymphoma, Large B-Cell, Diffuse/classification ; Lymphoma, Large B-Cell, Diffuse/pathology ; Lymphoma, Large-Cell, Anaplastic/classification ; Lymphoma, Large-Cell, Anaplastic/pathology ; Proto-Oncogene Proteins/metabolism ; Sarcoma/classification ; Sarcoma/pathology ; Sarcoma, Myeloid/classification ; Sarcoma, Myeloid/pathology ; Soft Tissue Neoplasms/classification ; Soft Tissue Neoplasms/pathology ; Trans-Activators/metabolism
    Chemical Substances Proto-Oncogene Proteins ; Trans-Activators ; proto-oncogene protein Spi-1
    Language English
    Publishing date 2020-03-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 194119-7
    ISSN 1543-2165 ; 0363-0153 ; 0096-8528 ; 0003-9985
    ISSN (online) 1543-2165
    ISSN 0363-0153 ; 0096-8528 ; 0003-9985
    DOI 10.5858/arpa.2019-0580-OA
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Targeted Next-Generation Sequencing Identifies Molecular and Genetic Events in Dedifferentiated Chondrosarcoma.

    Lucas, Calixto-Hope G / Grenert, James P / Horvai, Andrew

    Archives of pathology & laboratory medicine

    2020  Volume 145, Issue 8, Page(s) 1009–1017

    Abstract: Context.—: Dedifferentiated chondrosarcoma is a rare adult bone tumor with a dismal prognosis and is composed of a conventional chondrosarcoma juxtaposed to high-grade nonchondrogenic sarcoma. Dedifferentiated chondrosarcomas may represent tumor ... ...

    Abstract Context.—: Dedifferentiated chondrosarcoma is a rare adult bone tumor with a dismal prognosis and is composed of a conventional chondrosarcoma juxtaposed to high-grade nonchondrogenic sarcoma. Dedifferentiated chondrosarcomas may represent tumor progression from a differentiated to a primitive histotype.
    Objective.—: To determine the genetic and molecular events that drive progression from a conventional chondrosarcoma to high grade nonchondrogenic sarcoma.
    Design.—: We analyzed the genomic landscape of paired conventional and dedifferentiated components of 11 dedifferentiated chondrosarcoma using targeted next-generation DNA sequencing with immunohistochemical validation. Clinical, radiographic, and pathologic features of tumors were reviewed. Capture-based DNA sequencing targeting the coding regions of 479 cancer genes and select introns was performed.
    Results.—: The tumors arose in the femur (n = 4; 36%), scapula (n = 3; 27%), pelvis (n = 3; 27%), and humerus (n = 1; 9%) of 7 men (64%) and 4 women (36%; median age, 61 years). DNA was adequate for sequencing from all 11 dedifferentiated components (100%) and 9 paired conventional chondrosarcoma components (82%). All tumors (100%) harbored either IDH1 p.R132 or IDH2 p.R172S hotspot mutations. Seven tumors (64%) displayed COL2A1 alterations. TERT promoter mutations were present in 5 of 9 pairs (56%) and 2 (22%) additional unpaired dedifferentiated components. IDH1/2, COL2A1, and TERT mutations were identical in both components of the paired samples. Pathogenic missense or truncating mutations in TP53 and large-scale copy number alterations were more common in dedifferentiated components than in those of matched conventional components.
    Conclusions.—: The results support IDH1/2, COL2A1, and TERT promoter mutations being common in dedifferentiated chondrosarcoma and as likely early events in progression, whereas inactivating mutation of TP53 and high-level copy number alterations may be later events in the dedifferentiated phenotype.
    MeSH term(s) Adult ; Aged ; Biomarkers, Tumor/genetics ; Bone Neoplasms/genetics ; Bone Neoplasms/pathology ; Cell Dedifferentiation ; Chondrosarcoma/genetics ; Chondrosarcoma/pathology ; Collagen Type II/genetics ; DNA Copy Number Variations ; DNA Mutational Analysis ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Isocitrate Dehydrogenase/genetics ; Male ; Middle Aged ; Mutation ; Phenotype ; Predictive Value of Tests ; Sequence Analysis, DNA ; Telomerase/genetics
    Chemical Substances Biomarkers, Tumor ; COL2A1 protein, human ; Collagen Type II ; IDH2 protein, human (EC 1.1.1.41) ; Isocitrate Dehydrogenase (EC 1.1.1.41) ; IDH1 protein, human (EC 1.1.1.42.) ; TERT protein, human (EC 2.7.7.49) ; Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2020-11-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 194119-7
    ISSN 1543-2165 ; 0363-0153 ; 0096-8528 ; 0003-9985
    ISSN (online) 1543-2165
    ISSN 0363-0153 ; 0096-8528 ; 0003-9985
    DOI 10.5858/arpa.2020-0379-OA
    Database MEDical Literature Analysis and Retrieval System OnLINE

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