Although risk factors have been established for the development of serous carcinoma after a diagnosis of serous borderline tumor (SBT), comprising atypical proliferative serous tumor (APST) (ie, conventional SBT) and noninvasive low-grade serous carcinoma (niLGSC) (ie, micropapillary SBT), subsequent invasive carcinoma still occurs in a subset of women who are not at increased risk. Whether subsequent serous carcinoma in women with a prior SBT represents malignant progression/recurrence or an independent primary tumor is unclear, and the combined clinicopathologic and molecular features of SBTs and their subsequent carcinomas have not been fully characterized. In this study, we analyzed a cohort of 42 women initially diagnosed with SBT who subsequently developed serous carcinoma of a total of 1025 cases of ovarian SBT from a nationwide population-based cohort. Review of the diagnostic slides was performed from this subset of SBTs and matched metachronous invasive serous carcinomas (39 low grade, 3 high grade). DNA was extracted from tissue blocks available for 41 cases (both SBT and carcinoma, n=36; SBT only, n=3; carcinoma only, n=2). Samples were subjected to digital droplet PCR to analyze mutation hotspots in KRAS (codon 12) and BRAF (V600E), which are frequently found in low-grade serous tumors. Eighty-one percent of SBTs (34/42) were APST, and 19% (8/42) were niLGSC. Forty percent of cases (17/42) were FIGO stage I, the majority of which were APST (14/17; 82%). The median time to development of carcinoma was 9 years (range, 0.6 to 25 y). Mutations in SBTs were distributed as follows: 5/39 (13%) BRAF mutant, 22/39 (56%) KRAS mutant, and 12/39 (31%) wild-type for both genes. There was a significant relationship between SBT gene mutation and histologic type, with BRAF mutations occurring exclusively in APST and a higher frequency of niLGSC among SBTs wild-type for BRAF and KRAS (P=0.01). The diffuse presence of tumor cells with abundant eosinophilic cytoplasm was significantly associated with the BRAF mutation (P=0.001). Mutational analyses of matched SBT/carcinoma pairs revealed concordant profiles in 33/36 (92%) cases, of which 19 (53%) were KRAS mutant, 4 (11%) were BRAF mutant, and 10 (28%) were wild type for both genes. The 3 discordant cases consisted of a wild-type niLGSC with a subsequent BRAF-mutant invasive LGSC, a KRAS G12V -mutant APST with a KRAS G12C -mutant LGSC, and a BRAF-mutant APST with subsequent development of a KRAS G12D -mutant high-grade serous carcinoma. In conclusion, some women with SBTs can subsequently develop serous carcinoma, occasionally over 10 years later. Most subsequent carcinomas are low grade, but a small subset can be high grade. The type of gene mutation in SBT correlates with various histologic features. While most cases of serous carcinoma developing after a diagnosis of SBT probably represent tumor progression, a minority are independent primary tumors, presumably arising from endosalpingiosis.
Introduction. Pancreatic solid-pseudopapillary neoplasm (SPN) is a rare tumor that typically occurs in young females. Although a cytological diagnosis may be easily made in this age group when there are typical features, atypical clinical presentations and unusual cytological features may make this a challenging diagnosis. We present our single-institution experience in a cohort of these tumors, outlining both typical and atypical features. Awareness of unusual clinical and cytological features can help to avoid pitfalls during diagnosis. Methods. We performed a review of all cases of pancreatic SPNs diagnosed over a 15-year period (January 2007 to December 2021). Detailed cytological, clinical, and follow-up histological features were presented and analyzed. Results. Twenty-two cases of SPN were diagnosed at our institution during this 15-year period. Patients ranged from 12 to 73 years of age (mean 33 y, median 26 y) and included 19 females and 3 males. Seventeen patients had cytological material, and fourteen were diagnosed by EUS-FNA. Typical cytological features included papillary clusters with central capillaries, myxoid stroma, monomorphism, cercariform cells, and hyaline globules. Atypical or unusual cytological features that were seen in a few cases were multinucleated giant cells, clear cells, and/or foamy macrophages. A few cases showed features that were similar to pancreatic neuroendocrine tumors (PanNETs). Tumor cells were always positive for β-catenin, CD10, CD56, cyclin-D1, progesterone receptor (PR), and vimentin by immunohistochemistry. They were always negative for chromogranin. Pancytokeratin and synaptophysin stains were positive in 9% and 46% of cases evaluated, respectively. All cases had histological confirmation on resection. The median follow-up duration was 69 months (a range of 2–177 months), with only three cases lost to follow-up. No recurrence or metastasis was identified. Conclusions. We present our experience with cytological diagnoses of SPN in a well-characterized cohort of 22 patients with histological correlation and follow-up data. These tumors occur over a wide range and show varied cytological features. SPNs can be confidently diagnosed on limited cytological material, with limited panel immunohistochemistry aiding diagnosis in atypical cases. Recognizing the associated degenerative changes is crucial in avoiding a misdiagnosis.
Although endoscopic biopsy of a rectal submucosal nodule may be nondiagnostic, endoscopic ultrasound‐guided fine‐needle aspiration (EUS‐FNA) can be an important tool to make diagnosis. We report a case of a female patient who had an EUS‐FNA of a submucosal nodule after a nondiagnostic rectal biopsy. The original diagnosis was erroneously rendered as concerning for necrotic neoplasm. The correct diagnosis of Solesta‐induced foreign body reaction was made on reviewing the slides once the history of remote Solesta injection was made available. This case illustrates the pathognomonic features of Solesta‐induced rectal nodule and underscores the importance of detailed history as well as inclusion of iatrogenic diseases in the differential to prevent erroneous diagnosis and management. Potential pitfalls in cytopathological diagnosis are discussed.
Bronchoalveolar lavage (BAL) is a useful procedure to evaluate lung infiltrates in order to identify infection, foreign body aspiration, and neoplasms. However, it is indeed unusual to find all three in the same sample. We report such a case in a 68‐year‐old male with a history of metastatic prostate adenocarcinoma and longstanding chronic obstructive pulmonary disease who presented with features of pneumonia. BAL revealed Aspergillus and parainfluenza infections, food particle aspiration pneumonia, as well as metastatic prostatic adenocarcinoma. The food particles were initially confused for yeast infection, but we finally identified them as nut products. This may be the first documented case of nut product aspiration diagnosed on BAL. The potential pitfalls that may complicate the evaluation are also discussed.
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