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Master Thesis

Carcinome sécrétant mammaire : un spectre histopathologique et génomique caractérisé par un gène de fusion récurrent ETV6-NTRK3. Analyse clinique, morphologique, immunohistochimique, cytogénétique et moléculaire d’une série de 12 cas de carcinome sécrétant mammaire et revue de la littérature

Abstract : Secretory breast carcinoma (SBC) is a rare breast carcinoma with distinctive morphologic features and a recurrent specific chromosomal translocation t(12;15) ETV6-NTRK3, usually of low histologic grade and favorable prognosis. We describe the morphologic and genetic characteristics of twelve cases of SBC from eleven patients. Histologic and immunohistochemical analyses, fluorescence in situ hybridization using break-apart probes specific to ETV6, reverse transcription polymerase chain reaction with in-house probes specific to the ETV6-NTRK3 gene fusion, and DNA copy number variation by array comparative genomic hybridization analyses were performed on all cases. Eight cases were of low histologic grade, three were intermediate, and one had high-grade nuclear atypia, necrosis, and numerous mitoses. This patient had a fatal outcome. Six cases displayed low hormonal receptor expression, whereas the rest had basal-type immunoprofiles. All interpretable cases harbored an ETV6-NTRK3 gene fusion by reverse transcription polymerase chain reaction and/or an ETV6 rearrangement by fluorescence in situ hybridization, with duplication of the oncogenic derivative in two cases. Array comparative genomic hybridization analysis showed simplex genomic profiles. The two cases with ETV6-NTRK3 duplication included a gain of 12p starting from the ETV6 locus to the telomere, associated with a gain of the 15q from the centromere to NTRK3 in one case, and in the other a normal profile up to NTRK3 on 15q, and then a loss up to the telomere, suggesting loss of corresponding normal chromosome 15. These findings provide a novel insight into the morphologic and genetic spectrum of SBC, ranging from low-grade to high grade histology, with occasional low hormonal receptor expression, simplex genomic profiles, and possible unfavorable course.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01245108
Contributor : Bu Carreire Université de Bordeaux <>
Submitted on : Wednesday, December 16, 2015 - 4:58:50 PM
Last modification on : Wednesday, August 23, 2017 - 4:30:54 PM
Long-term archiving on: : Saturday, April 29, 2017 - 5:00:48 PM

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Marie del Castillo. Carcinome sécrétant mammaire : un spectre histopathologique et génomique caractérisé par un gène de fusion récurrent ETV6-NTRK3. Analyse clinique, morphologique, immunohistochimique, cytogénétique et moléculaire d’une série de 12 cas de carcinome sécrétant mammaire et revue de la littérature. Médecine humaine et pathologie. 2015. ⟨dumas-01245108⟩

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