[Show abstract][Hide abstract] ABSTRACT: BackgroundGastrointestinal (GI) lymphomas are very common types of extranodal lymphomas, and we hypothesize there are regional differences in subtype, distribution in the GI tract, and epidemiological features among the different populations.MethodsWe retrospectively evaluated the clinical, molecular and histologic features of North American primary and secondary GI lymphomas diagnosed from 2000–2009 seen at our institution. We utilized immunohistochemistry and fluorescence in situ hybridization to further evaluate a subset of the gastric lymphomas.ResultsExtranodal marginal zone lymphomas of mucosal associated lymphoid tissue (MALTs) and diffuse large B cell lymphomas (DLBCLs) were the most common subtypes of GI lymphomas. Select gastric DLBCLs (N = 6) and MALTs (N = 13) were further examined for API2-MALT1 and IGH translocations, and P16 and P53 protein expression. Gastric MALTs showed frequent API2-MALT1 (38%) but not IGH translocations (0%), and the DLBCLs showed neither translocation. Expression of P16 and P53 proteins and the proliferative index were compared between high grade gastric lymphomas (gastric DLBCLs) and low grade gastric lymphomas (gastric MALTs). P53 overexpression (P = 0.008) and a high proliferation index [Ki-67] (P = 0.00042) were significantly associated with gastric DLBCL, but no statistically significant difference was observed in P16 expression (p = 0.108) between gastric DLBCL and gastric MALT.ConclusionOur study revealed that GI lymphomas from a Central-Midwestern North American population showed differences and similarities to non-North American cohorts. In addition, API2-MALT1, P16 and P53 abnormalities occurred frequently in gastric lymphomas from this North American population.Virtual slidesThe virtual slides for this article can be found here:
Full-text · Article · Jun 2012 · Diagnostic Pathology
[Show abstract][Hide abstract] ABSTRACT: The acquired cystic disease of the kidney-associated renal cell carcinoma (ACDK-RCC) in the current study occurred in a kidney with multiple cysts and was composed of cells with eosinophilic cytoplasm and prominent nucleoli. There were extensive calcium oxalate deposits in both non-neoplastic cysts and tumor. The tumor cells were positive for RCC Ma, CD10, and EMA, focally positive for CK7, negative for vimentin. Interphase in situ hybridizations (FISH) were performed for chromosome 1, 2, 7, 10, 13 and 17. No chromosomal abnormality was observed in the non-neoplastic cysts. Polysomies of chromosomes 1, 2, 7, 10, 13, 17 were observed in the tumor. Trisomy 13 was first reported in this type of tumor, which warranted further study.
Full-text · Article · Jan 2012 · Open Journal of Pathology
[Show abstract][Hide abstract] ABSTRACT: We report the first example of an anaplastic meningioma arising from an intracranial arachnoid cyst and discuss the diagnostic challenges of this case, including the useful role of genetic markers.
A 72-year-old man presented with transient episodes of expressive dysphasia and focal motor seizures, superimposed on a 6-month history of worsening headaches and dizziness. His past history was significant for a previously drained left-sided chronic subdural hematoma and a radiologically diagnosed left middle fossa arachnoid cyst. Magnetic resonance imaging on admission showed variable wall thickening of the arachnoid cyst with mild mass effect on the left frontotemporal lobes.
The patient underwent decompression of the arachnoid cyst and biopsy of the cyst wall. Histologic and immunohistochemical studies of the thickened portion initially suggested a metastatic carcinosarcoma, but fluorescence in situ hybridization (FISH) studies confirmed the diagnosis of anaplastic meningioma based on characteristic chromosomal deletions. The patient returned 2 months later with progressive disease, leading to his death 6 weeks later despite repeat surgery for tumor debulking.
Malignant transformation of meningothelial elements in arachnoid cysts is an exceptionally rare complication that poses considerable diagnostic challenges. Genetic markers may be particularly helpful in such cases.
[Show abstract][Hide abstract] ABSTRACT: To compare a gene expression-based classifier versus the standard genetic prognostic marker, monosomy 3, for predicting metastasis in uveal melanoma.
Gene expression profiling, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH) were done on 67 primary uveal melanomas. Clinical and pathologic prognostic factors were also assessed. Variables were analyzed by Cox proportional hazards, Kaplan-Meier analysis, sensitivity, specificity, positive and negative predictive value, and positive and negative likelihood ratios.
The gene expression-based molecular classifier assigned 27 tumors to class 1 (low risk) and 25 tumors to class 2 (high risk). By Cox univariate proportional hazards, class 2 signature (P = 0.0001), advanced patient age (P = 0.01), and scleral invasion (P = 0.007) were the only variables significantly associated with metastasis. Only the class 2 signature was needed to optimize predictive accuracy in a Cox multivariate model. A less significant association with metastasis was observed for monosomy 3 detected by aCGH (P = 0.076) and FISH (P = 0.127). The sensitivity and specificity for the molecular classifier (84.6% and 92.9%, respectively) were superior to monosomy 3 detected by aCGH (58.3% and 85.7%, respectively) and FISH (50.0% and 72.7%, respectively). Positive and negative predictive values (91.7% and 86.7%, respectively) and positive and negative likelihood ratios (11.9 and 0.2, respectively) for the molecular classifier were also superior to those for monosomy 3.
Molecular classification based on gene expression profiling of the primary tumor was superior to monosomy 3 and clinicopathologic prognostic factors for predicting metastasis in uveal melanoma.
Preview · Article · Apr 2007 · Clinical Cancer Research