USP6 (Tre2) fusion oncogenes in aneurysmal bone cystAndre M Oliveira
Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Cancer Res 64:1920-3. 2004
..CDH11 is expressed strongly in bone, and our findings implicate a novel oncogenic mechanism in which deregulated USP6 transcription results from juxtaposition to the highly active CDH11 promoter...
USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cystsAndre M Oliveira
Department of Pathology, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Am J Pathol 165:1773-80. 2004
..By contrast, secondary ABC lack CDH11 and USP6 rearrangements, and although morphological mimics of primary ABC, appear to represent a non-specific morphological pattern of a diverse group of non-ABC neoplasms...
- Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes
Andre M Oliveira
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Oncogene 24:3419-26. 2005
..In summary, these studies show that USP6 oncogenic activation results from heterogeneous genomic mechanisms involving USP6 transcriptional upregulation by juxtaposition with ectopic promoters...
- KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications
Fabiola Medeiros
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA
Am J Surg Pathol 28:889-94. 2004
..Notably, some KIT-negative GISTs contain imatinib-sensitive KIT or PDGFRA mutations; therefore, patients with KIT-negative GISTs should not, a priori, be denied imatinib therapy...
- Pleomorphic liposarcoma: clinicopathologic analysis of 57 cases
Jason L Hornick
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA
Am J Surg Pathol 28:1257-67. 2004
..By multivariate analysis, wide local excision or amputation and postoperative radiotherapy protected against local recurrence...
- Applications of fluorescence in situ hybridization in cytopathology: a review
Andre M Oliveira
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Acta Cytol 49:587-94. 2005
..Furthermore, due to its feasibility for virtually all types of cytologic specimens, a new and exciting era in both investigative and clinical cytopathology is expected...
- Gains of COL1A1-PDGFB genomic copies occur in fibrosarcomatous transformation of dermatofibrosarcoma protuberans
Jared J Abbott
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Mod Pathol 19:1512-8. 2006
..Copy number of COL1A1-PDGFB fusion gene in the classic dermatofibrosarcoma protuberans areas does not seem to be a major predisposing mechanism for fibrosarcomatous transformation...
- Aneurysmal bone cyst: a neoplasm driven by upregulation of the USP6 oncogene
Andre M Oliveira
J Clin Oncol 24:e1; author reply e2. 2006
- Frequency and characterization of HMGA2 and HMGA1 rearrangements in mesenchymal tumors of the lower genital tract
Fabiola Medeiros
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Genes Chromosomes Cancer 46:981-90. 2007
..The diagnostic usefulness of HMGA2 rearrangements to differentiate between AAM and other tumors of the lower genital tract may be limited due to the their low frequency...
Frequency of USP6 rearrangements in myositis ossificans, brown tumor, and cherubism: molecular cytogenetic evidence that a subset of "myositis ossificans-like lesions" are the early phases in the formation of soft-tissue aneurysmal bone cystWilliam R Sukov
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Skeletal Radiol 37:321-7. 2008
..Several lesions show histologic features that may overlap with ABC, including myositis ossificans (MO), brown tumor, and cherubism. The objective of this study was to assess whether these lesions harbored USP6 rearrangements...
- Ependymal tumors with sarcomatous change ("ependymosarcoma"): a clinicopathologic and molecular cytogenetic study
Fausto J Rodriguez
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 32:699-709. 2008
..Although rare, ependymal neoplasms must be included among the gliomas prone to undergo sarcomatous change and we propose the term "ependymosarcoma" for these tumors...
- Cytogenetic and molecular cytogenetic findings of intimal sarcoma
Hongying Zhang
Division of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Cancer Genet Cytogenet 179:146-9. 2007
..Further studies are needed to determine whether the cytogenetic abnormalities found in this case are recurrent events for this poorly characterized malignancy...
- Myxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality
Cristiane M Ida
Division of Anatomic Pathology, Hospital das Clinicas C M I, Sao Paulo University School of Medicine, Sao Paulo, SP, Brazil
Cancer Genet Cytogenet 177:139-42. 2007
..3) as the only cytogenetic abnormality. This finding is distinct from the two cases previously reported. Additional studies are needed to verify whether any of these chromosome rearrangements are involved recurrently in MIFS...
- Synovial sarcoma of the sellar region
Bernd W Scheithauer
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First St, SW, Rochester, MN 55905, USA
Neuro Oncol 9:454-9. 2007
..Subtotal resection and radiosurgery proved to be efficacious. The spectrum of primary sellar region sarcomas is summarized...
- Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans
Ricardo S Macarenco
CIPAX, Medicina Diagnostica, Sao Jose dos Campos SP, Brazil
Genes Chromosomes Cancer 47:260-5. 2008
....
- Clonal cytogenetic abnormalities in Erdheim-Chester disease
Eneida F Vencio
Division of Anatomic Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 31:319-21. 2007
..However, additional studies are warranted to confirm whether the chromosomal abnormalities found in this case represent recurrent cytogenetic events...
- Cytogenetic and molecular cytogenetic findings in dedifferentiated liposarcoma with neural-like whorling pattern and metaplastic bone formation
Ricardo S Macarenco
Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street NW, Rochester, MN 55905, USA
Cancer Genet Cytogenet 172:147-50. 2007
..The specific cytogenetics and molecular determinants of these peculiar morphologic findings, however, remain unknown...
- Formation of the 12q14-q15 amplicon precedes the development of a well-differentiated liposarcoma arising from a nonchondroid pulmonary hamartoma
Sylvain Trahan
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
Am J Surg Pathol 30:1326-9. 2006
....
- Primary synovial sarcoma of the mitral valve
Dylan V Miller
Division of Anatomic Pathology, Mayo Clinic, Rochester, MN 55905, USA
Cardiovasc Pathol 14:331-3. 2005
..The histopathologic diagnosis was supported by the immunohistochemical profile and the presence of the SYT-SSX1 fusion transcript identified by molecular genetic studies...
- Sustained complete remission of metastatic dermatofibrosarcoma protuberans with imatinib mesylate
Stefanos V Labropoulos
First Department of Medical Oncology, Hygeia Hospital, Marousi, Greece
Anticancer Drugs 16:461-6. 2005
..We conclude that sustained complete remission of metastatic DFSP with specific FISH abnormalities involving the PDGFB locus can be obtained with imatinib mesylate with minimal toxicity for the patient...
- Molecular prognostication for soft tissue sarcomas: are we ready yet?
Andre M Oliveira
J Clin Oncol 22:4031-4. 2004
- HMGA2 rearrangements are rare in benign lipomatous lesions of the nervous system
Fausto J Rodriguez
Acta Neuropathol 116:337-8. 2008
