Consensus ; In Situ Hybridization, Fluorescence

No abstract available.
Fluorescence* ; In Situ Hybridization*

Humans ; In Situ Hybridization, Fluorescence ; methods ; Paraffin

No abstract available.
Humans ; In Situ Hybridization, Fluorescence* ; Infant, Newborn*

BACKGROUND: The amplification of murine double minutes (MDM2) is the primary feature of well-differentiated liposarcomas (WDLPS) and dedifferentiated liposarcomas (DDLPS), while DDIT3 rearrangement is the main one of myxoid liposarcomas (MLPS). Our aim was to evaluate the added value of MDM2 amplification and DDIT3 rearrangement in making a diagnosis and classifying lipogenic tumors. METHODS: Eighty-two cases of liposarcoma and 60 lipomas diagnosed between 1995 and 2010 were analysed for MDM2 amplification and DDIT3 rearrangement using a fluorescence in situ hybridization (FISH). The subtypes of liposarcoma were reclassified according to the molecular results, whose results were reviewed with an analysis of the relevant histologic and immunohistochemical findings. RESULTS: One case of lipoma (1.67%) was reclassified as a WDLPS. Of the liposarcomas, 13.4% (16/82) were reclassified after the molecular testing. Five cases of MLPS were reclassified as four cases of DDLPS and one case of myxoid lipoma. Two cases of WDLPS were reclassified as one case of spindle cell lipoma and another case of myxofibrosarcoma. Four cases of DDLPS were reclassified as two cases of leiomyosarcoma, one case of angiomyolipoma and another case of fibroinflammatory lesion. Of the six cases of pleomorphic liposarcoma, five were reclassified as DDLPS. CONCLUSIONS: In our series, a critical revision of diagnosis was found at a rate of 3.5% (5/142) after a review of the lipomatous lesions. The uses of molecular testing by MDM2 and DDIT3 FISH were valuable to make an accurate subtyping of liposarcomas as well as to differentiate WDLPS from benign lipomatous tumor.
Angiomyolipoma ; Fluorescence ; In Situ Hybridization ; In Situ Hybridization, Fluorescence ; Leiomyosarcoma ; Lipoma ; Liposarcoma ; Liposarcoma, Myxoid

PURPOSE: The recent discovery and characterization of an oncogenic ROS1 gene rearrangement has raised significant interest because small molecule inhibitors are effective in these tumors. The aim of this study was to determine frequency and clinicopathological features associated with ROS1 rearrangement in patients with cholangiocarcinoma (CCA). MATERIALS AND METHODS: A total of 261 patients who underwent surgery for CCA between October 1997 and August 2013 were identified from an international, multi-institutional database. ROS1 rearrangement was evaluated by break-apart fluorescence in situ hybridization using tissue microarrays of these patients. RESULTS: Of 261 CCA evaluated, three cases (1.1%) showed ROS1 rearrangement by fluorescence in situ hybridization (FISH), all of which were derived from intrahepatic origin. ROS1 protein expression was observed in 38 samples (19.1%). Significantly larger tumor size was observed in ROS1 immunohistochemistry (IHC)–negative patients compared with ROS1 IHC–positive patients. ROS1 FISH–positive patients had a single tumor with a median size of 4 cm and well-to-moderate differentiation. Overall, there was no difference in terms of baseline characteristics, overall survival, and recurrence-free survival between ROS1-positive and -negative patients. CONCLUSION: ROS1 rearrangement was detected in 1.1% of CCA patients. Although rare, conduct of clinical trials using ROS1 inhibitors in these genetically unique patients is warranted.
Cholangiocarcinoma* ; Fluorescence ; Gene Rearrangement ; Humans ; Immunohistochemistry ; In Situ Hybridization ; In Situ Hybridization, Fluorescence ; Incidence*

Humans ; In Situ Hybridization, Fluorescence ; Tissue Array Analysis ; methods

Humans ; In Situ Hybridization, Fluorescence ; Sarcoma, Alveolar Soft Part ; diagnosis

Aneuploidy ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Male ; Spermatozoa ; ultrastructure

OBJECTIVETo explore the value of multiplex fluorescence in situ hybridization (M-FISH) technique in the detection of the complex chromosomal aberrations (CCAs) and marker chromosomes in acute leukemia (AL).

METHODSM-FISH was performed in 11 AL patients with R-banding CCAs or marker chromosomes to define the unrecognized chromosomal aberrations and the constitution of marker chromosomes, and to identify small and cryptic translocations.

RESULTSIn the 11 AL cases studied, 27 numerical and 41 structural chromosomal abnormalities were detected by conventional cytogenetics (CC), among which 3 chromosomal gains and 9 chromosomal losses as well as 12 structural abnormalities were confirmed by M-FISH, and another 15 chromosomal losses were revised by M-FISH as derivative chromosomes. M-FISH detected 3 additional chromosomal gains that were undetected by CC. The other 29 structural abnormalities including 17 marker chromosomes were characterized by M-FISH. A total of 33 structural abnormalities were detected by M-FISH, in which 6 were unreported before, i.e. t(5q-;16)(? q14;q24), der(9)(Y::9::Y::9), der(7) (7::8::9), ins(20;21), der(11) (11::21::20) and der(3)t(3p-;13)(3p-;q21), most of which resulted from unbalanced translocations. Almost all chromosomes were involved in CCAs, the more common ones were chromosome 17, 5, 7, 15, 11 in AML and 8, 9, 14, 22 in ALL.

CONCLUSIONCombining M-FISH with CC can raise resolution of the latter, which justifies its clinical application for the detection of CCAs and marker chromosomes.