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  1. Article ; Online: Undifferentiated Small Round Cell Sarcomas of Bone.

    Dickson, Brendan C

    Surgical pathology clinics

    2021  Volume 14, Issue 4, Page(s) 679–694

    Abstract: Undifferentiated small round cell sarcomas represent a heterogeneous group of mesenchymal neoplasms. While imprecise, this term nevertheless provides a useful framework for conceptualizing these tumors. This article highlights current trends in their ... ...

    Abstract Undifferentiated small round cell sarcomas represent a heterogeneous group of mesenchymal neoplasms. While imprecise, this term nevertheless provides a useful framework for conceptualizing these tumors. This article highlights current trends in their classification based on morphology, immunohistochemistry, and advanced molecular techniques. As next-generation sequencing becomes commonplace in diagnostic laboratories pathologists can expect to differentiate these tumors with increasing confidence, and actively contribute to related discoveries. Ultimately, when synthesized with rigorous clinical outcome data and other investigative techniques, a more robust landscape for the molecular diagnosis and classification of undifferentiated small round cell sarcomas is expected to emerge in the future.
    MeSH term(s) Biomarkers, Tumor/genetics ; Bone Neoplasms/diagnosis ; Bone Neoplasms/genetics ; Humans ; Immunohistochemistry ; Sarcoma/diagnosis ; Sarcoma/genetics ; Sarcoma, Ewing ; Soft Tissue Neoplasms
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2021-10-07
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 1875-9157
    ISSN (online) 1875-9157
    DOI 10.1016/j.path.2021.06.009
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  2. Article ; Online: TLE1 Expression in NUT Carcinoma: A Case Report Highlighting a Potential Diagnostic Pitfall for the Pathologist.

    Aziz, Sarah J / Dickson, Brendan C / Lang, Pencilla / Zeman, Cady E

    International journal of surgical pathology

    2024  , Page(s) 10668969231217750

    Abstract: NUT carcinoma is a rare, aggressive malignancy defined as a carcinoma with a chromosomal rearrangement affecting the nuclear protein in testis ( ...

    Abstract NUT carcinoma is a rare, aggressive malignancy defined as a carcinoma with a chromosomal rearrangement affecting the nuclear protein in testis (
    Language English
    Publishing date 2024-01-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1336393-1
    ISSN 1940-2465 ; 1066-8969
    ISSN (online) 1940-2465
    ISSN 1066-8969
    DOI 10.1177/10668969231217750
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  3. Article ; Online: Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors.

    Suurmeijer, Albert J H / Dickson, Brendan C / Antonescu, Cristina R

    Genes, chromosomes & cancer

    2023  Volume 63, Issue 1, Page(s) e23196

    Abstract: The classification of many soft tissue tumors remains subjective due their rarity, significant overlap in microscopic features and often a non-specific immunohistochemical (IHC) profile. The application of molecular genetic tools, which leverage the ... ...

    Abstract The classification of many soft tissue tumors remains subjective due their rarity, significant overlap in microscopic features and often a non-specific immunohistochemical (IHC) profile. The application of molecular genetic tools, which leverage the underlying molecular pathogenesis of these neoplasms, have considerably improved the diagnostic abilities of pathologists and refined classification based on objective molecular markers. In this study, we describe the results of an international collaboration conducted over a 3-year period, assessing the added diagnostic value of applying molecular genetics to sarcoma expert pathologic review in a selected series of 84 uncommon, mostly unclassifiable mesenchymal tumors, 74 of which originated in soft tissues and 10 in bone. The case mix (71% historical, 29% contemporary) included mostly unusual and challenging soft tissue tumors, which remained unclassified even with the benefit of expert review and routine ancillary methods, including broad IHC panels and a limited number of commercially available fluorescence in situ hybridization (FISH) probes. All cases were further tested by FISH using a wide range of custom bacterial artificial chromosome probes covering most of known fusions in sarcomas, whereas targeted RNA sequencing was performed in 13 cases negative by FISH, for potential discovery of novel fusion genes. Tumor-defining molecular alterations were found in 48/84 tumors (57%). In 27 (32%) cases the tumor diagnosis was refined or revised by the additional molecular work-up, including five cases (6%), in which the updated diagnosis had clinical implications. Sarcoma classification is rapidly evolving due to an increased molecular characterization of these neoplasms, so unsurprisingly 17% of the tumors in this series harbored abnormalities only very recently described as defining novel molecularly defined soft tissue tumor subsets.
    MeSH term(s) Humans ; In Situ Hybridization, Fluorescence/methods ; Sarcoma/diagnosis ; Sarcoma/genetics ; Sarcoma/pathology ; Soft Tissue Neoplasms/diagnosis ; Soft Tissue Neoplasms/genetics ; Soft Tissue Neoplasms/pathology ; Biomarkers, Tumor/genetics ; Sequence Analysis, RNA
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2023-09-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23196
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  4. Article ; Online: Beyond Smooth Muscle-Other Mesenchymal Neoplasms of the Uterus.

    Dickson, Brendan C

    Surgical pathology clinics

    2018  Volume 12, Issue 1, Page(s) 107–137

    Abstract: Mesenchymal tumors of the uterus comprise a heterogeneous group of neoplasms of varied biologic potential. In addition to being host to several anatomically unique entities, the uterus may contain mesenchymal neoplasms typically found elsewhere in the ... ...

    Abstract Mesenchymal tumors of the uterus comprise a heterogeneous group of neoplasms of varied biologic potential. In addition to being host to several anatomically unique entities, the uterus may contain mesenchymal neoplasms typically found elsewhere in the body. Although smooth muscle neoplasms are common, other mesenchymal neoplasms in this location are relatively rare. Many of these neoplasms exhibit morphologic overlap. In addition to a careful histomorphologic review, definitive classification frequently depends on the judicious application of ancillary immunohistochemical and molecular testing. The intent of this review is to offer a basic approach to the classification of primary uterine mesenchymal neoplasms.
    MeSH term(s) Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Muscle, Smooth/pathology ; Prognosis ; Smooth Muscle Tumor/classification ; Smooth Muscle Tumor/genetics ; Smooth Muscle Tumor/pathology ; Uterine Neoplasms/classification ; Uterine Neoplasms/genetics ; Uterine Neoplasms/pathology ; Uterus/pathology
    Language English
    Publishing date 2018-12-24
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 1875-9157
    ISSN (online) 1875-9157
    DOI 10.1016/j.path.2018.10.005
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  5. Article ; Online: VIM::KMT2A-rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features.

    Almohsen, Shahd S / Griffin, Anthony M / Dickson, Brendan C / Demicco, Elizabeth G

    Genes, chromosomes & cancer

    2023  Volume 62, Issue 7, Page(s) 405–411

    Abstract: The recently described KMT2A-rearranged sarcomas are rare emerging entities where the KMT2A gene fuses with YAP1 and, less commonly, VIM, resulting in two distinct morphologies. Unlike the sclerosing epithelioid fibrosarcoma-like features that ... ...

    Abstract The recently described KMT2A-rearranged sarcomas are rare emerging entities where the KMT2A gene fuses with YAP1 and, less commonly, VIM, resulting in two distinct morphologies. Unlike the sclerosing epithelioid fibrosarcoma-like features that characterize tumors with KMT2A::YAP1 fusions, VIM::KMT2A-rearranged sarcomas are more uniformly cellular and lack the extensively sclerotic background seen in the former. Most tumors behave aggressively with metastases on presentation. Here, we describe the clinicopathologic and molecular findings in two additional cases of VIM::KMT2A rearranged sarcomas that arose in the deep soft tissues of adult males. Both tumors were composed of hypercellular fascicles of uniform spindle cells with pale eosinophilic cytoplasm and ovoid nuclei. The stroma had scant delicate collagen with occasional thin-walled ectatic blood vessels and perivascular hyalinization. Immunohistochemical studies showed an unspecific staining pattern with diffuse positivity for CD99 and BCL2 and variable staining for S100 protein. RNA-sequencing detected the presence of VIM::KMT2A gene fusion involving VIM exon 4 and KMT2A exon 2 in both cases. Sarcomas with VIM::KMT2A gene fusions seem to have sufficient morphologic features to warrant distinction from KMT2A-rearranged sarcomas with YAP1 partner. Without the benefit of molecular testing, these tumors pose a diagnostic challenge due to their lack of specific immunohistochemical profile and great morphologic overlap with other monomorphic spindle cell neoplasms.
    MeSH term(s) Adult ; Male ; Humans ; Sarcoma/pathology ; Fibrosarcoma/genetics ; Gene Fusion ; Soft Tissue Neoplasms/pathology ; Biomarkers, Tumor/genetics ; Gene Rearrangement
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2023-03-31
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23138
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    Zs.A 2966: Show issues Location:
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  6. Article ; Online: Biphasic synovial sarcoma with myoepithelial features: a distinctive variant with a predilection for the foot.

    Almohsen, Shahd S / Griffin, Anthony M / Dickson, Brendan C / Demicco, Elizabeth G

    Virchows Archiv : an international journal of pathology

    2023  

    Abstract: Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations, leading to diagnostic challenges. Here, we present four cases of molecularly confirmed, ... ...

    Abstract Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations, leading to diagnostic challenges. Here, we present four cases of molecularly confirmed, biphasic SS originating in the feet and displaying myoepithelial differentiation. The patients were two men and two women with an age range from 19 to 71 years (mean, 45 years). Each tumor showed foci with conventional spindle cell morphology. The epithelial components included areas with nests and cords of epithelioid cells set within a hyalinized and sclerotic stroma. The cytoplasm was clear to pale and eosinophilic. The nuclei were ovoid-round with fine chromatin and small to inconspicuous nucleoli. Mitotic figures were present (2-13 per 10 high-power fields; mean, 6.5). Immunohistochemical studies showed variable staining of the myoepithelial-like regions for low molecular weight keratins, EMA, p63, and S100 protein. Molecular studies confirmed the presence of SS18::SSX1/2 fusion in all four tumors. These cases highlight an unusual variant of synovial sarcoma with an apparent predilection for the distal lower extremity and suggest that differentiation of biphasic synovial sarcoma may be impacted by the anatomic site. Awareness of this variant is important to avoid misclassification and potential treatment and prognostic implications.
    Language English
    Publishing date 2023-10-21
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1184867-4
    ISSN 1432-2307 ; 0945-6317
    ISSN (online) 1432-2307
    ISSN 0945-6317
    DOI 10.1007/s00428-023-03679-3
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  7. Article ; Online: Targeted RNA sequencing: A routine ancillary technique in the diagnosis of bone and soft tissue neoplasms.

    Dickson, Brendan C / Swanson, David

    Genes, chromosomes & cancer

    2019  Volume 58, Issue 2, Page(s) 75–87

    Abstract: The past decade has witnessed remarkable progress in delineating the molecular pathogenesis of many mesenchymal neoplasms. This, in large part, is attributable to the application of next-generation sequencing. As these techniques decrease in cost, and ... ...

    Abstract The past decade has witnessed remarkable progress in delineating the molecular pathogenesis of many mesenchymal neoplasms. This, in large part, is attributable to the application of next-generation sequencing. As these techniques decrease in cost, and increasingly support the use of routine clinical specimens-such as formalin-fixed paraffin-embedded tissue and cytology samples-they are beginning to be routinely implemented in diagnostic pathology laboratories. The breadth of testing possible by next-generation sequencing makes this a useful adjunct for pathologists, particularly with the emergence of targeted therapies. The intent of this article is to share our experience, over 2 years, as an early adopter of targeted RNA sequencing as an ancillary diagnostic technique for fusion gene detection in bone and soft tissue neoplasms.
    MeSH term(s) Biomarkers, Tumor/genetics ; Bone Neoplasms/diagnosis ; Bone Neoplasms/genetics ; Genetic Testing/methods ; Humans ; Sarcoma/diagnosis ; Sarcoma/genetics ; Sequence Analysis, RNA/methods ; Soft Tissue Neoplasms/diagnosis ; Soft Tissue Neoplasms/genetics
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2019-01-28
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.22690
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  8. Article ; Online: Kinase fusion positive intra-osseous spindle cell tumors: A series of eight cases with review of the literature.

    Suurmeijer, Albert J H / Xu, Bin / Torrence, Dianne / Dickson, Brendan C / Antonescu, Cristina R

    Genes, chromosomes & cancer

    2023  Volume 63, Issue 1, Page(s) e23205

    Abstract: Mesenchymal spindle cell tumors with kinase fusions, often presenting in superficial or deep soft tissue locations, may rarely occur in bone. Herein, we describe the clinicopathologic and molecular data of eight bone tumors characterized by various ... ...

    Abstract Mesenchymal spindle cell tumors with kinase fusions, often presenting in superficial or deep soft tissue locations, may rarely occur in bone. Herein, we describe the clinicopathologic and molecular data of eight bone tumors characterized by various kinase fusions from our files and incorporate the findings with the previously reported seven cases, mainly as single case reports. In the current series all but one of the patients were young children or teenagers, with an age range from newborn to 59 years (mean 19 years). Most tumors (n = 5) presented in the head and neck area (skull base, mastoid, maxilla, and mandible), and remaining three in the tibia, pelvic bone, and chest wall. The fusions included NTRK1 (n = 3), RET (n = 2), NTRK3 (n = 2), and BRAF (n = 1). In the combined series (n = 15), most tumors (73%) occurred in children and young adults (<30 years) and showed a predilection for jaw and skull bones (40%), followed by long and small tubular bones (33%). The fusions spanned a large spectrum of kinase genes, including in descending order NTRK3 (n = 6), NTRK1 (n = 4), RET (n = 2), BRAF (n = 2), and RAF1 (n = 1). All fusions confirmed by targeted RNA sequencing were in-frame and retained the kinase domain within the fusion oncoprotein. Similar to the soft tissue counterparts, most NTRK3-positive bone tumors in this series showed high-grade morphology (5/6), whereas the majority of NTRK1 tumors were low-grade (3/4). Notably, all four tumors presenting in the elderly were high-grade spindle cell sarcomas, with adult fibrosarcoma (FS)-like, malignant peripheral nerve sheath tumor (MPNST)-like and MPNST phenotypes. Overall, 10 tumors had high-grade morphology, ranging from infantile and adult-types FS, MPNST-like, and MPNST, whereas five showed benign/low-grade histology (MPNST-like and myxoma-like). Immunohistochemically (IHC), S100 and CD34 positivity was noted in 57% and 50%, respectively, while co-expression of S100 and CD34 in 43% of cases. One-third of tumors (4 high grade and the myxoma-like) were negative for both S100 and CD34. IHC for Pan-TRK was positive in all eight NTRK-fusion positive tumors tested and negative in two tumors with other kinase fusions. Clinical follow-up was too limited to allow general conclusions.
    MeSH term(s) Child ; Infant, Newborn ; Adolescent ; Young Adult ; Humans ; Child, Preschool ; Aged ; Middle Aged ; Neurofibrosarcoma ; Proto-Oncogene Proteins B-raf/genetics ; Soft Tissue Neoplasms/genetics ; Fibrosarcoma/genetics ; Receptor Protein-Tyrosine Kinases ; Bone Neoplasms/genetics ; Oncogene Proteins, Fusion/genetics ; Myxoma ; Biomarkers, Tumor/genetics ; Receptor, trkA/genetics
    Chemical Substances Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; Oncogene Proteins, Fusion ; Biomarkers, Tumor ; Receptor, trkA (EC 2.7.10.1)
    Language English
    Publishing date 2023-10-02
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23205
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  9. Article ; Online: Malignant Cerebellopontine Angle Peripheral Nerve Sheath Tumor with Divergent Mesenchymal (Cartilaginous) Differentiation Presenting with Catastrophic Hemorrhage: Case Report and Review.

    Lai, Carolyn / Bajin, Demir / Chen, Joseph M / Dickson, Brendan C / Keith, Julia / Pirouzmand, Farhad

    The journal of international advanced otology

    2023  Volume 19, Issue 2, Page(s) 155–158

    Abstract: Malignant peripheral nerve sheath tumors of the cerebellopontine angle are rare, especially even outside of the context of neurofibromatosis or malignant transformation of previously radiated vestibular schwannomas. This case report describes a case of a ...

    Abstract Malignant peripheral nerve sheath tumors of the cerebellopontine angle are rare, especially even outside of the context of neurofibromatosis or malignant transformation of previously radiated vestibular schwannomas. This case report describes a case of a presumed vestibular schwannoma without previous radiation or history of neurofibromatosis presenting with progressive hearing loss, facial weakness, growth, and ultimately catastrophic hemorrhage requiring urgent surgery. Histopathology revealed an exceptionally rare malignant peripheral nerve sheath tumor with divergent mesenchymal (chondrosarcomatous) differentiation with few rigorously interrogated cases in the literature. In retrospect, facial weakness, growth, and early intratumoral hemorrhage were harbingers of atypical malignant pathology. We advocate for a heightened index of suspicion, shorter interval follow-up, and consideration of early surgery in such cases in hopes of preventing potentially catastrophic outcomes.
    MeSH term(s) Humans ; Neurofibrosarcoma/pathology ; Cerebellopontine Angle/pathology ; Neuroma, Acoustic/complications ; Neuroma, Acoustic/surgery ; Neuroma, Acoustic/pathology ; Neurofibromatoses/pathology ; Facial Paralysis ; Hemorrhage/etiology
    Language English
    Publishing date 2023-03-28
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 2561231-1
    ISSN 2148-3817 ; 1308-7649 ; 2148-3817
    ISSN (online) 2148-3817
    ISSN 1308-7649 ; 2148-3817
    DOI 10.5152/iao.2023.22799
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  10. Article ; Online: Advances in sarcoma molecular diagnostics.

    Wang, Xue Qi / Goytain, Angela / Dickson, Brendan C / Nielsen, Torsten Owen

    Genes, chromosomes & cancer

    2022  Volume 61, Issue 6, Page(s) 332–345

    Abstract: Sarcomas are cancers of mesenchymal origin with the potential to arise in diverse anatomic locations. With over 80 subtypes, which often demonstrate overlapping morphologies, sarcomas frequently require ancillary testing to enable accurate classification. ...

    Abstract Sarcomas are cancers of mesenchymal origin with the potential to arise in diverse anatomic locations. With over 80 subtypes, which often demonstrate overlapping morphologies, sarcomas frequently require ancillary testing to enable accurate classification. Pathognomonic driver mutations can often be leveraged for diagnostic purposes and include fusion genes, amplification events, and recurrent point mutations. Until relatively recently, the major clinical molecular diagnostic tests have been karyotyping, fluorescence in situ hybridization, and polymerase chain reaction; however, these techniques have a number of limitations. Recent technological advances have led to the development of more comprehensive assays with higher throughput, thereby replacing the need for a suite of single gene tests. These approaches include next-generation sequencing, fluorescent bar code hybridization, and DNA methylation profiling, among others. Herein, we review the application of recently developed techniques relevant to the diagnosis of sarcomas, and emerging assays with the potential for future development and clinical implementation.
    MeSH term(s) High-Throughput Nucleotide Sequencing/methods ; Humans ; In Situ Hybridization, Fluorescence ; Pathology, Molecular ; Sarcoma/diagnosis ; Sarcoma/genetics ; Soft Tissue Neoplasms/genetics
    Language English
    Publishing date 2022-02-03
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23025
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