[1911] Enhanced Molecular Characterization of Undifferentiated Tumors: A Series of 10 Cases

SJ Sirintrapun, C Cohen. Emory University, Atlanta, GA; Wake Forest University, Winston-Salem, NC

Background: CancerTYPE ID integrates expression of 92 genes to distinguish 39 tumors and 64 subtypes.Gene profiles are made extracting mRNA from embedded tissue with RT-PCR.Test gene signatures are compared to a reference database generating a prediction.
Design: Chosen were ten cases with difficult characterization and/or concern for metastases from unknown primaries.Retrospective review was performed by 3 expert pathologists using extensive IHC and clinical correlation.Diagnoses were then compared to predicted type.
Results: CancerTYPE ID further characterized 8/10 cases confirming expert panel diagnoses.

SiteIHCPanel DxPredicted Type
1LungTTF-,Syn+,Chr+,Calci-,S100+,PSA-,CD56+,AE1/3+CarcinoidThyroid Medullary 69%
2Axillary NodeTTF-,ER-,PR-,Her2-,LeuM1-,CK7+,CK20-,AE1/3+Poorly-Diff CABreast 96%
3Bladder and VaginaPoorly-Diff Squamous CALung Squamous 45%,Skin-Basal-Cell 22%,Leiomyosarcoma 18%
4CervixPoorly-Diff CACervix Squamous 91%
5BowelTTF-,Syn-,SMA-,Des-,Vim+,WT1-,CD3-,CD20-,CD30-,CD33-,CD43-,CD45-,CD138-,CD21-,CD35-CD31-,CD34-,D2-40-,CD117-,S100-,HMB45-,MelA-,Mel3-,Cam 5.2-,AE1/3-Undiff Neoplasm,CA or SarcomaSoft Tissue MFH 54%
6Neck Nodep53+,PLAP+,CD10-,Syn-,Chr-,S100-,AFP-,HCG-,CD99-,Des-,EBER+,CD3-,CD5-,CD20-,CD43-,CD45-,Cam5.2+,CK LMW-,CK5/6-,CK7+,CK14+,AE1/3+,EMA+Poorly-Diff CA,Nasopharyngeal or ThymicStomach AdenoCA 55%
7BladderTTF-,ER-,WT1-,CK7+,CK20-,CDX2-Clear Cell CA,Bladder or MullerianOvary 56%,Cervix-AdenoCA 38%
8Bladderp63-,HMWCK-,p504s-,PSA-,PAP-AdenoCA,Intestinal TypeBladder 57%
9BladderAdenoCA,Intestinal TypeIntestine 99%
10LungTTF-,Uroplak-,Thrombomod-,Muci+,CK7+CK20-Metastatic Bladder CABladder 65%

Two cases had discordance:a lung neuroendocrine tumor(1)predicted as thyroid medullary(calcitonin negative);a lymphoepithelial carcinoma(6)predicted as stomach adenocarcinoma.Correctly predicted were a bladder metastasis to lung(10)and an uncharacterized neoplasm as MFH(5).The urachal adenocarcinoma(9)showed a colorectal molecular profile;bladder squamous carcinoma(3),a lung squamous carcinoma profile.
Conclusions: CancerType ID can serve in adjunct with conventional pathologic evaluation,especially if IHC and/or clinical correlation is not feasible.Use of tissue microdissection and extension of the gene reference database will improve diagnostic use.CancerType ID can also be used in research to provide molecular insight on rare tumors.
Category: Pan-genomic/Pan-proteomic Approaches to Diseases

Monday, March 22, 2010 1:00 PM

Poster Session II # 232, Monday Afternoon


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