Jaclyn F. Hechtman

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PURPOSE The extent to which the developmental transcription factor SOX9 functions as an oncogene or tumor suppressor in colorectal carcinoma (CRC) is debatable. We aimed to clarify the effect of SOX9 mutations on SOX9 protein expression and their association with known molecular subtypes and clinical characteristics in advanced CRC. EXPERIMENTAL DESIGN(More)
BACKGROUND Mammary analogue secretory carcinoma (MASC) is a recently described pathologic entity. We report the case of a patient with an initial diagnosis of salivary acinic cell carcinoma later reclassified as MASC after next-generation sequencing revealed an ETV6-NTRK3 fusion. PATIENTS AND METHODS This alteration was targeted with the pan-Trk inhibitor(More)
new recommendation a significant change of practice; its appropriate execution is paramount. The assays recommended by the NCCN for the investigation of MSI/ MMR status are immunohistochemistry (IHC) for MMR proteins and polymerase chain reaction (PCR) for MSI, two assays that have been investigated fairly extensively and deemed to be desirable as screening(More)
KIT, PDGFRA, NF1 and SDH mutations are alternate initiating events, fostering hyperplasia in gastrointestinal stromal tumours (GISTs), and additional genetic alterations are required for progression to malignancy. The most frequent secondary alteration, demonstrated in ∼70% of GISTs, is chromosome 14q deletion. Here we report hemizygous or homozygous(More)
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