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Introduction. Previously considered an exceedingly rare entity, sebaceous carcinoma of the breast is now regarded in the World Health Organization 2019 classification as a “special histopathological pattern” of invasive breast carcinoma of no special type. Case Description. In this article, we report the case of a fine needle aspiration cytology and the histopathological features of a breast carcinoma with clear-cut morphological features suggesting sebaceous differentiation, but showing no positive staining with the anti-adipophilin antibody. Conclusions. A morphologically clear-cut sebaceous differentiation is not invariably associated with adipophilin positivity; moreover, in breast carcinoma, adipophilin positivity does not automatically imply sebaceous differentiation. At present, immunomorphological evidence for the recognition of sebaceous carcinoma as a “special type” breast carcinoma subtype is too weak.

Colon carcinoma with rhabdoid characteristics is a rare, malignant tumor whose molecular alterations have not been clarified yet. We report a novel case of a colon adenocarcinoma with rhabdoid features in a 71-year-old woman, localized to the right colon and associated with local lymph node and liver metastasis. The patient died within 8 months from surgery despite target chemotherapy. The tumor was enriched in cells with a typical rhabdoid-type morphology displaying a marked and diffuse vimentin staining. Cells were also positive for epidermal growth factor receptor (EGFR), p53, Ki67, and β-catenin and negative for cytokeratin 20/cytokeratin 7, E-cadherin, and CDX2. Remarkably, the promoter regions of 4 of 5 specific genes that define the so-called "CpG island methylator phenotype," including mutL homolog 1 (MLH1), were methylated. Consistently, microsatellite instability was detected. A BRAF V600E mutation and no KRAS mutations were identified. Finally, 4 tumor suppressor gene promoters CDH1, CDKN1B, CDKN1C, and MGMT were not methylated. This is the first case of a colorectal carcinoma with rhabdoid features, "CpG island methylator phenotype," high microsatellite instability associated with a BRAF mutation, and patient poorer outcome. © 2011 Elsevier Inc. All rights reserved.

To assess the relationship between morphologic features of placental villi and the occurrence of trisomy.We selected 9 placentas with genetically diagnosed trisomy 21 and 6 normal placentas of matched gestational age. The 150 selected villi underwent a morphometric study using the Shape Analytical Morphometry system, availing itself of an ordinary section to study dimensions and of a specific section to study the shape. The analytic morphometric procedure for shape analysis consisted of 3 steps: upper degree polynomial equations, Fourier analysis and parabolic fitting.Trisomic villi showed bigger size and a more asymmetric and irregular shape than did normal villi.We believe that this method can provide valuable information and that further studies are needed to analyze more cohorts of pathologic villi, thus providing a complete pattern of morphologic aberrations related to each placental disease.

Autoimmune myelofibrosis is a distinct clinicopathological entity, recognizing immunopathogenetic mechanisms and occurring isolately or in association with systemic and/or organ-specific autoimmune diseases. It results in chronic cytopenias, and is defined by a pattern including bone marrow, peripheral blood, serological and clinical features. It has to be distinguished from other disorders having myelofibrosis. Among these, the most relevant differential diagnosis is with chronic idiopathic myelofibrosis, particularly when disclosing autoimmune clinical and/or laboratory features as epiphenomenon related to a secondary immune-dysregulation. Here we report on 3 patients admitted because of chronic cytopenias. In all of them, the clinicopathological evaluation essentially demonstrated myelofibrosis, not clustered megakaryocytes, reactive lymphoid infiltration in marrow biopsies, absence of significant tear-drop poikilocytosis and leukoerythroblastosis on peripheral blood smears, normal-sized spleen, positive autoimmune serology. The resulting patterns met the diagnosis of autoimmune myelofibrosis occurring isolately in a patient and associated with Sjogren's syndrome or concomitant Sjogren's syndrome and Hashimoto's thyroiditis in the other two, respectively. Transient improvements in cytopenias and unmodified myelofibrosis were observed following corticosteroid treatment. It is noteworthy the lack of a specific therapy, being the underlying pathophisiology of myelofibrosis still unclear. In conclusion, increased awareness of the clinicopathological pattern identifying autoimmune myelofibrosis is recommended in order to improve basic and clinical knowledge of this emerging entity.