Revisiting Pulmonary Sclerosing Pneumocytoma.

Pulmonary sclerosing pneumocytoma (PSP) is a quite rare tumor outside Eastern countries. This rarity, together with a wide histological appearance, makes its correct identification a diagnostic challenge for pathologists under the microscope. Historically, PSP was considered a vascular-derived neoplasm (sclerosing hemangioma), but its immunohistochemical profile clearly supports its epithelial origin. No specific molecular fingerprint has been detected so far. This short narrative revisits the clinical, histological, immunohistochemical, and molecular aspects of this tumor, paying special attention to some controversial points still not well clarified, i.e., clinical aggressiveness and metastatic spread, multifocality, the supposed development of sarcomatoid change in a subset of cases, and tumor associations with lung adenocarcinoma and/or well-differentiated neuroendocrine hyperplasia/tumors. The specific diagnostic difficulties on fine-needle aspiration cytology/biopsy and perioperative frozen sections are also highlighted. Finally, a teaching case of tumor concurrence of lung adenocarcinoma, neuroendocrine lesions, and PSP, paradigmatic of tumor association in this context, is also presented.

Acinar Cystic Transformation of the Pancreas: Histomorphology and Molecular Analysis to Unravel its Heterogeneous Nature.

Acinar cystic transformation (ACT) of the pancreas, previously called acinar cell cystadenoma, is a poorly understood and rare entity among pancreatic cystic lesions. This study aims to clarify its real nature. This research cohort included 25 patients with pancreatic ACT, representing the largest series in the literature. We describe their clinicopathological features and molecular profile using next-generation sequencing. ACT arose more often in women (F/M≃2:1), in the body-tail region, with a mean size of ~4 cm. At the latest follow-up, all patients were alive and disease free. Histologically, a typical acinar epithelium lined all cysts, intermingled with ductal-like epithelium in 11/25 (44%) cases. All the cases lacked any evidence of malignancy. Three ACT showed peculiar features: 1 showed an extensive and diffuse microcystic pattern, and the other 2 harbored foci of low-grade pancreatic intraepithelial neoplasia (PanIN) in the ductal-like epithelium. Next-generation sequencing revealed the presence of 2 pathogenic/likely pathogenic mutations in 2 different cases, 1 with ductal-like epithelium and 1 with PanIN, and affecting KRAS (c.34G>C, p.G12R) and SMO (c.1685G>A, p.R562Q) genes, respectively. The other case with PanIN was not available for sequencing. Overall, our findings support that ACT is a benign entity, potentially arising from heterogeneous conditions/background, including: (1) acinar microcysts, (2) malformations, (3) obstructive/inflammatory setting, (4) genetic predisposition, (5) possible neoplastic origin. Although all indications are that ACT is benign, the potential occurrence of driver mutations suggests discussing a potential role of long-term surveillance for these patients.

Evaluation of a pipeline for simulation, reconstruction, and classification in ultrasound-aided diffuse optical tomography of breast tumors.

SIGNIFICANCE: Diffuse optical tomography is an ill-posed problem. Combination with ultrasound can improve the results of diffuse optical tomography applied to the diagnosis of breast cancer and allow for classification of lesions. AIM: To provide a simulation pipeline for the assessment of reconstruction and classification methods for diffuse optical tomography with concurrent ultrasound information. APPROACH: A set of breast digital phantoms with benign and malignant lesions was simulated building on the software VICTRE. Acoustic and optical properties were assigned to the phantoms for the generation of B-mode images and optical data. A reconstruction algorithm based on a two-region nonlinear fitting and incorporating the ultrasound information was tested. Machine learning classification methods were applied to the reconstructed values to discriminate lesions into benign and malignant after reconstruction. RESULTS: The approach allowed us to generate realistic US and optical data and to test a two-region reconstruction method for a large number of realistic simulations. When information is extracted from ultrasound images, at least 75% of lesions are correctly classified. With ideal two-region separation, the accuracy is higher than 80%. CONCLUSIONS: A pipeline for the generation of realistic ultrasound and diffuse optics data was implemented. Machine learning methods applied to a optical reconstruction with a nonlinear optical model and morphological information permit to discriminate malignant lesions from benign ones.

D1S80 VNTR locus genotypes in a population of Southeastern Sicily: distribution and genetic disequilibrium.

Locus D1S80 is one of the best-known polymorphic loci, showing a variable number of tandem repeats. This article presents the results on D1S80 allele distributions in a sample of 324 unrelated Sicilian individuals, collected and analyzed in two distinct laboratory centers. Although, as expected, the two most frequent alleles were those with 18 and 24 repeat units, the population sample from southeastern Sicily showed a relatively low frequency of allele 29 (2.9%) and allele 31 (3.4%) and a relatively high frequency of allele 25 (6.0%), allele 30 (1.9%), and allele 32 (1.5%) in comparison with other populations. Statistical analysis performed by the five alleles model provided evidence that the population did not follow the Hardy-Weinberg equilibrium expectations (observed heterozygosity 70.99% vs. expected heterozygosity 76.31%). The calculated F (fixation index), as a measure of heterozygote deficiency or excess, was positive for four allele groups and negative for one allele group. This finding was consistent with a substantial diversity of human ethnic groups when tested with VNTR systems and might represent a genuine inconsistency, not due to a methodological bias. This scenario deserves further investigation, i.e., by performing a short tandem repeat (STR) units analysis on a greater number of loci in the same population sample.