FUS (16p11) Gene Rearrangement as Detected by Fluorescence In-Situ Hybridization in Cutaneous Low-Grade Fibromyxoid Sarcoma: A Potential Diagnostic Tool

2011 ◽  
pp. 1
Author(s):  
Rajiv M Patel ◽  
Erinn Downs-Kelly ◽  
Monisha N Dandekar ◽  
Julie C Fanburg-Smith ◽  
Steven D Billings ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Gene Rearrangement ◽  
Low Grade ◽  
Fibromyxoid Sarcoma

FUS (16p11) Gene Rearrangement as Detected by Fluorescence In-Situ Hybridization in Cutaneous Low-Grade Fibromyxoid Sarcoma: A Potential Diagnostic Tool

2011 ◽  
Vol 33 (2) ◽  
pp. 140-143 ◽  
Author(s):  
Rajiv M Patel ◽  
Erinn Downs-Kelly ◽  
Monisha N Dandekar ◽  
Julie C Fanburg-Smith ◽  
Steven D Billings ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Gene Rearrangement ◽  
Low Grade ◽  
Fibromyxoid Sarcoma

Peripheral nerve fibromyxoid sarcoma

2014 ◽  
Vol 121 (3) ◽  
pp. 576-579 ◽  
Author(s):  
Raanan Y. Alter ◽  
Christina C. Wamsley ◽  
John T. Mullen ◽  
Winta Z. Haile ◽  
Jeffrey D. Goldsmith ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Soft Tissue ◽  
Peripheral Nerve ◽  
Fluorescence In Situ Hybridization ◽  
Clinical Symptoms ◽  
Hybridization Analysis ◽  
Low Grade ◽  
Fibromyxoid Sarcoma

Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue neoplasm with metastatic potential and needs to be recognized as such, because it can be mistaken for other types of sarcoma due to its unremarkable appearance. This 49-year-old man presented with an approximately 5-cm mass on the anteromedial aspect of his left thigh that slowly increased over 10 years. Clinical symptoms were limited to local discomfort and intermittent distal numbness. Due to the location, imaging findings, and lack of serious symptoms, the initial differential diagnosis favored a schwannoma. An initial biopsy revealed histopathological findings consistent with a perineurioma, although with atypical features. The patient elected to have the mass excised, and the tumor, which arose from a branch of the saphenous nerve, could be separated well from the surrounding soft tissue. Histopathological investigation of the mass displayed characteristic features of a fibromyxoid sarcoma, which was confirmed by subsequent fluorescence in situ hybridization analysis. Due to concerns about infiltration beyond the margins, radical reexcision was advocated and performed, resulting in definite clear surgical margins. At follow-up, the patient had regained full strength with no residual neurological symptoms or any new deficits. He has since been healthy and disease free for a total of 4 years in follow-up. This case documents, to the authors' knowledge, the first observation of an LGFMS associated with a peripheral nerve. It also supports the use of fluorescence in situ hybridization analysis as an essential diagnostic method in establishing the diagnosis of LGFMS.

Fluorescence In Situ Hybridization (FISH) Using a Subtelomeric 11q Probe as a New Diagnostic Tool for Congenital Thrombocytopenia Caused by Deletions in 11q.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3035-3035
Author(s):  
Dorothea Gadzicki ◽  
Gudrun Michaelsen ◽  
Cornelia Rudolph ◽  
Doris Steinemann ◽  
Christoph M. Happel ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Diagnostic Tool ◽  
Partial Trisomy ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Chromosome 11 ◽  
Partial Monosomy ◽  
Structural Aberrations

Abstract Neonatal thrombocytopenia occurs in about 1% of all newborns. Inherited forms like 11q- or Jacobsen syndrome are rare. However, they may remain undetected with karyotyping because the deleted regions in 11q often involve small subtelomeric regions. Here we report on the detection of deletions in 11q in two newborns with normal routine karyotypes who were shown to carry subtelomeric deletions in 11q by means of fluorescence in situ hybridization (FISH) using a subtelomeric 11q probe (Abbott, Diagnostics, Wiesbaden, Germany). Both children showed thrombocytopenia (18.000/μl and 26.000/μl, respectively) and dysmegakaryopoiesis (absence of normal megakaryocytes and presence of micromegakaryocytes) associated with facial dysmorphism, cardiac defects and psychomotoric retardation. In the second case, the mother and the grandmother also showed mild thrombocytopenia. In both patients, FISH analyses on peripheral blood and bone marrow showed the loss of the telomere-associated region of 11q distal of the MLL gene. In the first patient, the deletion of 11q resulted from an unbalanced complex rearrangement with duplication of 11p. As the source of this chromosomal aberration, a paternal pericentric inversion of chromosome 11 was identified. The partial monosomy 11q and the partial trisomy 11p in the first patient were confirmed by comparative genomic hybridization (CGH) analysis. Array/matrix CGH assisted in determining the breakpoints at 11p15.1 and 11q24.1. No structural aberrations of 11q were found in the mother of the second patient, but further investigations are under way. These findings give further evidence that small subtelomeric deletions of 11q and probably mutations of genes located therein cause thrombocytopenia. Since it can be very difficult to detect these deletions by karyotyping, FISH using a subtelomeric 11q probe seems to be an extremely useful new diagnostic tool. This new method should be applied in children with congenital thrombocytopenia, in particular if they have additional complex dysmorphic features.

Utilization of Fluorescence In Situ Hybridization in the Diagnosis of 230 Mesenchymal Neoplasms: An Institutional Experience

2010 ◽  
Vol 134 (12) ◽  
pp. 1797-1803 ◽  
Author(s):  
Munir R. Tanas ◽  
Brian P. Rubin ◽  
Raymond R. Tubbs ◽  
Steven D. Billings ◽  
Erinn Downs-Kelly ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Clear Cell ◽  
Clear Cell Sarcoma ◽  
Low Grade ◽  
Nerve Sheath Tumor ◽  
High Grade ◽  
Round Cell ◽  
Mesenchymal Neoplasms

Abstract Context—Mesenchymal neoplasms harbor characteristic translocations and amplification of gene regions amenable to evaluation by fluorescence in situ hybridization (FISH). Objective—To determine the utility of FISH in the diagnosis of mesenchymal neoplasms. Design—Two hundred thirty soft tissue cases analyzed by FISH were reviewed retrospectively. Results—Morphologic patterns where FISH was used included high-grade round cell sarcomas (n  =  67), nonmyogenic spindle cell sarcomas (n  =  40), low-grade myxoid neoplasms (n  =  34), adipocytic neoplasms (n  =  20), and melanocytic neoplasms (n  =  19). Fifty cases did not fit into the previously mentioned categories. SYT FISH (96% of monophasic synovial sarcomas were positive; 0% of malignant peripheral nerve sheath tumor were positive) and DDIT3 FISH (100% of myxoid/round cell liposarcomas; no other neoplasm positive) were very sensitive and specific. EWSR1 FISH was very sensitive and specific in the differential diagnosis of melanocytic neoplasms (88% of clear cell sarcomas were positive; all melanomas were negative). EWSR1 FISH was sensitive among high-grade round cell sarcomas (positive in 100% of desmoplastic small round cell tumors and 96% of Ewing sarcoma/primitive neuroectodermal tumors) but not specific because clear cell sarcoma, extraskeletal myxoid chondrosarcoma, and a subset of round cell liposarcomas also harbor rearrangements of EWSR1. FUS FISH was very sensitive in detecting low-grade fibromyxoid sarcomas (91% positive) but not specific because most myxoid/round cell liposarcomas also contain rearrangements of FUS. All atypical lipomatous tumors were positive for amplification of MDM2, whereas all lipomas were negative. FOXO1A FISH was positive in ∼70% of cases of alveolar rhabdomyosarcoma. Conclusion—FISH is a useful adjunct in the diagnosis of mesenchymal neoplasms.

Detection of t(11;18)(q21;q21) by interphase fluorescence in situ hybridization using API2 and MLTspecific probes

Blood ◽  
2000 ◽  
Vol 96 (6) ◽  
pp. 2215-2218 ◽  
Author(s):  
Judith Dierlamm ◽  
Mathijs Baens ◽  
Margarita Stefanova-Ouzounova ◽  
Kristina Hinz ◽  
Iwona Wlodarska ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
B Cell ◽  
Fluorescence In Situ Hybridization ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Low Grade ◽  
Chromosome 11 ◽  
Interphase Nuclei ◽  
Large B Cell

Abstract The translocation of chromosome 11, long arm, region 2, band 1, to chromosome 18, long arm, region 2, band 1 (t(11;18)(q21;q21)) represents a recurrent chromosomal abnormality in extranodal marginal zone B-cell lymphoma (MZBCL) of mucosa-associated lymphoid tissue (MALT) type and leads to a fusion of the apoptosis inhibitor-2 (API2) gene on chromosome 11 and the MALT lymphoma-associated translocation (MLT) gene on chromosome 18. A 2-color fluorescence in situ hybridization (FISH) assay, which can be used for the detection of t(11;18) in interphase nuclei and metaphase chromosomes on fresh and archival tumor tissue, was developed. The P1 artificial chromosome (PAC) clone located immediately telomeric to the MLT gene and the PAC clone spanning the API2 gene were differentially labeled and used to visualize the derivative chromosome 11 resulting from t(11;18), as evident by the overlapping or juxtaposed red and green fluorescent signals. The assay was applied to interphase nuclei of 20 cases with nonmalignant conditions and 122 B-cell non-Hodgkin's lymphomas (NHLs). The latter group comprised 20 cases of nodal follicle center cell lymphoma and diffuse large B-cell NHL, 10 cases of gastric diffuse large B-cell lymphoma, 10 cases of hairy cell leukemia, and 82 cases of MZBCL (41 extranodal from various locations, 19 nodal, and 22 splenic MZBCL) including 35 cases with an abnormal karyotype, 2 of which revealed t(11;18). By interphase FISH, t(11;18) was detected in 8 gastrointestinal low-grade MALT-type lymphomas including the 2 cytogenetically t(11;18)+ cases. In the 8 t(11;18)+ cases, the FISH results were confirmed by reverse transcriptase–polymerase chain reaction (RT-PCR) usingAPI2 and MLT specific primers. Our results indicate that t(11;18)(q21;q21) specifically characterizes a subgroup of low-grade MZBCL of the MALT-type and that the FISH assay described here is a highly specific and rapid test for the detection of this translocation.

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