Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy.

We report a case of concomitant choroidal hemangioma in an eye that harbored intraocular retinoblastoma (RB) in a 1-year-old child. A 12-month-old boy presented with right white pupil (Leukocoria). The initial clinical diagnosis was unilateral intraocular RB Group C. The eye was treated initially by systemic chemotherapy combined with focal consolidation therapy followed by I-125 plaque radiotherapy. Massive sub-retinal recurrence was seen 4 months later, and Magnetic Resonance Imaging (MRI) showed extra-scleral invasion of the tumor, and therefore enucleation was performed. Microscopic examination revealed a differentiated retinoblastoma associated at the site of the base of the tumor with choroidal hemangioma with trans-scleral invasion. Orbit MRI was repeated 3 months after the surgery, and there was no orbital tumor recurrence. We are reporting a rare case of pathologically concomitant choroidal hemangioma with trans-scleral invasion in an eye that harbored active recurrent intraocular RB. This trans-scleral extension of hemangioma was misinterpreted by MRI as extraocular retinoblastoma and resulted in enucleation.

Reliability of frozen section in breast sentinel lymph node examination.

OBJECTIVES: Sentinel lymph node (SLN) examination in breast carcinoma is crucial to spare patients unnecessary lymph node (LN) dissection. The specificity and accuracy of SLN examination by frozen section has been variable in many studies. This study aims to describe our experience in frozen section (FS) analysis of SLN. METHODS: We have retrospectively analyzed data from 449 axillary SLN subjected to FS examination from 440 patients with breast cancer. All patients had free axillary LN clinically. RESULTS: Out of 449 cases, no false positive cases were found on FS (specificity of 100 %). Twenty-six cases were false negative (6 interpretation-related reasons and 20 technical-related reasons). The overall sensitivity was 84 % with a total accuracy rate of 93 % and interpretation sensitivity of 96 %. Three cases were deferred. Twenty-two of the false negative cases were micrometastases, whereas 4 were macrometastases. The interpretation-related false negative cases were not related to the subtype of carcinoma (ductal vs. lobular). However, they were all of low nuclear grade. CONCLUSION: These findings are similar to most published data. FS is a reliable method for evaluating SLN. The most common cause of false negative diagnosis is sampling error. More attention should be paid to low-grade tumors. Moreover, in FS analysis, we recommend to totally submit SLNs that are less than 5 mm in diameter, bisecting them if possible, and to serially section SLNs that are at least 5 mm at 2-mm intervals.

Detection of nucleophosmin 1 mutations by quantitative real-time polymerase chain reaction versus capillary electrophoresis: a comparative study.

CONTEXT: Nucleophosmin 1 (NPM1) is the most commonly mutated gene in acute myeloid leukemia. Detection of NPM1 mutations is useful for stratifying patients for therapy, predicting prognosis, and assessing for minimal residual disease. Several methods have been developed to rapidly detect NPM1 mutations in genomic DNA and/or messenger RNA specimens. OBJECTIVE: To directly compare a quantitative real-time polymerase chain reaction (qPCR) assay with a widely used capillary electrophoresis assay for detecting NPM1 mutations. DESIGN: We adopted and modified a qPCR assay designed to detect the 6 most common NPM1 mutations and performed the assay in parallel with capillary electrophoresis assay in 207 bone marrow aspirate or peripheral blood samples from patients with a range of hematolymphoid neoplasms. RESULTS: The qPCR assay demonstrated a higher analytical sensitivity than the capillary electrophoresis 1/1000 versus 1/40, respectively. The capillary electrophoresis assay generated 10 equivocal results that needed to be repeated, whereas the qPCR assay generated only 1 equivocal result. After test conditions were optimized, the qPCR and capillary electrophoresis methods produced 100% concordant results, 85 positive and 122 negative. CONCLUSIONS: Given the higher analytical sensitivity and specificity of the qPCR assay, that assay is less likely to generate equivocal results than the capillary electrophoresis assay. Moreover, the qPCR assay is quantitative, faster, cheaper, less prone to contamination, and well suited for monitoring minimal residual disease.

Residual monotypic plasma cells in patients with waldenstrom macroglobulinemia after therapy.

Waldenström macroglobulinemia (WM) is currently defined as lymphoplasmacytic lymphoma involving bone marrow (BM) associated with a serum IgM paraprotein. WM is typically composed of small lymphocytes, plasmacytoid lymphocytes, and plasma cells in variable proportions, which can change after therapy. In this study, we assessed 41 WM cases that required chemotherapy, 39 showing persistent disease in restaging BM specimens. In 10 cases, there was persistent monotypic plasmacytosis in BM in the absence of demonstrable monotypic B cells. The monotypic plasma cells represented 0.5% to 46% of the cellularity and persisted 1 to 50 months after the last course of chemotherapy. The plasma cells were best quantified by immunohistochemical analysis on paraffin sections. We conclude that WM can persist as a pure plasma cell population after therapy. This finding has implications for the immunophenotypic assessment of WM after therapy and may explain persistent IgM paraproteinemia in patients with WM with no evidence of a clonal B-lymphocyte population.

Characteristics of gastrointestinal stromal tumors in a Middle Eastern population.

OBJECTIVE: To demonstrate the immunohistochemical and epidemiological characteristics of gastrointestinal stromal tumors (GIST) in a Middle Eastern population. METHODS: This is a retrospective analysis of all intra-abdominal mesenchymal tumors (excluding childhood embryonal rhabdomyosarcoma and small round blue cell tumors) collected from the archives of the Pathology Departments of King Hussein Cancer Center, Amman, and King Abdullah University Hospital, Irbid, Jordan between 2001 and 2008. The immunohistochemical profile of all cases was studied at King Hussein Cancer Center, Amman, Jordan, between January and August 2009. RESULTS: Gastrointestinal stromal tumors comprised 45% of the intra-abdominal mesenchymal tumors (42 out of 93 cases), with the most common site being the stomach (n=17, 40.5%). Twenty-seven GIST cases (64.3%) were classified as high risk, 4 (9.5%) as intermediate risk, 6 (14.3%) as low risk, and 2 (4.8%) as very low risk. Immunohistochemistry showed diffuse and strong positivity (+3) for CD117 in 85.7% of GIST cases, and for CD34 in 65% of cases. The high-risk tumors were more common in male patients (M:F=1.7:1), while the non-high risk tumors were more common in female patients. CONCLUSION: The immunohistochemical profile of GIST in Jordanian patients is similar to previously published data from other populations, with a slight male preponderance for high-risk GISTs.