Elastofibroma is a rare, benign fibrous proliferation that most commonly occur in periscapular soft tissues and is characterized by accumulated elastic fibers. Although the lesion is generally regarded as a reactive process, an unusual fibroblastic pseudotumor or as a fibroelastic tumor-like lesion, its etiology remains unknown. Cytogenetic studies in these lesions detected chromosomal instability and some recurrent clonal chromosomal changes, which raised the possibility that the lesion represents a neoplastic process. Here, we report the genomic alterations detected by array-based comparative genomic hybridization (aCGH) and by multiplex ligation-dependent probe amplification (MLPA) in two cases of elastofibroma. Both cases showed losses on 1p, 13q, 19p, and 22q by aCGH. In addition, deletion of CASR (3q21), GSTP1 (11q13), BRCA2 (13q12) and gains on APC (5q21) and PAH (12q23) were observed by MLPA in both samples. Genomic screening studies of this fibrous proliferation may lead to identify chromosomal regions containing genes involved in the development of elastofibromas.

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Bartter syndrome can manifest in three different forms and is rarely concomitant with glomerular nephropathies. However, this association is more frequently observed in children. We report the case of a 50-year-old woman with Gitelman syndrome for the past 30 years who also had a nephrotic syndrome of recent appearance. Her renal biopsy revealed hyperplasia of the juxtaglomerular apparatus and mesangial deposits of C1q, with no clinical or serological evidence of systemic erythematous lupus. We have not found any reports of instances of association of Gitelman syndrome and nephrotic syndrome arising from C1q nephropathy in adult patients. Our case suggests the possible existence of an association between hypokalaemic tubular nephropathies and glomerular nephropathies that may cause nephrotic syndrome.

Large cell neuroendocrine carcinoma of the lung (LCNEC) is a high-grade, poorly differentiated tumor that typically does not express somatostatin receptors. Thus, it does not benefit from treatment with somatostatin analogs and peptide receptor radionuclide therapy (PRRT). The current study objective was to demonstrate that treatment with PRRT may be a valid option in neuroendocrine carcinomas with high expression of somatostatin receptors. This is a case report of a 58-year-old man who was diagnosed with LCNEC and received chemotherapy treatment with little benefit. Extensive hepatic and bone metastasis was detected on In-pentetreotide scintigraphy following high uptake of the radionuclide by the tumors. The patient benefitted from neuroendocrine treatment initially and from lutetium Lu 177 dotatate subsequently. A significant clinical and radiological response was observed, along with an improvement in quality of life. The use of PRRT is a valid alternative to chemotherapy in patients with LCNEC involving the expression of somatostin receptors.

Background: A surrogate classification of breast cancer (BC) molecular subtypes based on immunohistochemistry (IHC) was established at the 13th St. Gallen International Breast Cancer Consensus (SG-BCC). The most controversial point of discussion was the difference between the luminal A and B subtypes. The Ki-67 cut-off that has been used to differentiate these BC subtypes is 14%; however, this cut-off was questioned. This study aimed to identifying the best Ki67 cut-off for determining the luminal BC by PAM50/Prosigna (NanoString Technologies, Seattle, Washington, USA). Methods: This study included females who were diagnosed with early-stage luminal BC between 2015–2020, and whose samples were subjected to genomic testing using PAM50. Results: A total of 143 samples were analysed. At the Ki-67 cut-off values of >14%; a correlation of 70.6%, with a sensitivity of 79.1% and a specificity of 55.8%; and a positive predictive value of 75.8% and negative predictive value of 60.4% were observed. When the Ki-67 cut-off was increased to >20%, the percentage of well-classified tumours based on IHC was 76.2%, increasing the agreement by 6.2%. The sensitivity was 93.4%, but the specificity was 46.1%. The positive predictive value was 75.2% while the negative predictive value was 80%, suggesting that IHC has a high probability of diagnosing luminal A and B. Conclusions: Increasing the Ki-67 cut-off to >20% leads to a better surrogate classification based on IHC and to a higher sensitivity in classifying the luminal subtypes. The authors propose that the cut-off for Ki-67, which is an independent factor, should be globally modified to >20%.