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Case Studies


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    BRAF V600E Mutation Positive Malignant Melanoma

    Posted on August 07 2013

    Case Study

    A recently published phase 3 clinical trial demonstrates that a novel melanoma therapy targeted to the BRAF V600E gene mutation has significant therapeutic efficacy against BRAF V600E mutated melanomas. The BRAF V600E mutation is present in 30-60% of cutaneous melanomas.

    Vemurafenib, a drug with specific inhibitory activity against the BRAF V600E mutated kinase, demonstrates superior overall and progression-free survival compared to dacarbazine…
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    Systemic Mastocytosis

    Posted on April 15 2013

    Case Study

    Systemic Mastocytosis is frequently associated with somatic activating point mutations with KIT, with the most commonly observed mutation being the D816V gain-of function point mutation (occurring in >95% of mutated cases).  This mutation provides relative resistance to imatinib, the prototypical tyrosine kinase inhibitor.

    History:

    A 45 year old man presents with occasional episodes of sweating, diarrhea, tachycardia, flushing, and syncope over…
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    Accelerated SLL/CLL with deletion 11q22.3(ATM) and trisomy 12

    Posted on March 15 2013

    Case Study

    In support of an accelerated form of disease, which is associated with unfavorable overall survival, this tumor demonstrated adverse cytogenetic features deletion 11q22.3(ATM) and trisomy 12.

    History:

    An 89 year-old female with generalized adenopathy underwent left cervical neck lymph node biopsy.

    Microscopic Findings:

    Lymph node architecture was completely effaced by small well differentiated lymphocytes with irregular, variably interspersed…
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  • Molecular Mutation Status Identifies Prognostically Significant Risk Groups in AML

    Posted on January 31 2012

    Pathology Top Pick

    Cytogenetic characteristics are the most important prognostic features in AML; however, roughly half of AMLs are cytogenetically normal (CN AML). Beyond conventional karyotyping, AMLs might be further prognostically stratified by molecular analysis targeted to genes that include but are not limited to FLT3, C-KIT, N-RAS, NPM1, CEBPA, WT1, ASXL1, DNMT3A, MLL, IDH1, IDH2, and TET2. Unfavorable molecular features are known to include MLL mutation or FLT3 internal…
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    Enteropathy-Associated T-cell Lymphoma

    Posted on January 30 2012

    Case Study

    The majority of Enteropathy-associated T-cell lymphomas (EATL) are associated with adult onset gluten-sensitive enteropathy with which they have a similar geographic distribution, which are usually CD56- CD103+. A minor subset of EATLs (Type II; monomorphic variant) is not as clearly associated with gluten-sensitive enteropathy. These subsets are typically CD56+ CD8+. Both subtypes are CD4-, and >80% positive for chromosomal gains at chromosome 9q31.3. In the case of…
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