Cytologic presentation of ovarian large cell carcinoma with rhabdoid features detected on peritoneal washing. Report of one case with cyto-histologic correlation and previously undescribed inactivating SMARCA-4 mutations.

The SMARCA subgroup of genes belongs to the SWI1/SNF1 family, responsible for chromatin remodeling and repair within the nucleosome. The SMARCA4 gene is located on chromosome 19p13 and encodes the BRG1 (BRAhMA) protein. We report the cytological and histological findings in one case of large cell SMARCA4 deficient ovarian carcinoma with positive peritoneal washing in a 69-year-old woman. The neoplastic cells were present as singly lying or perivascular clusters and showed medium or large size, round to oval hyperchromatic nuclei, and scarce to moderate cytoplasms. Molecular pathology investigations performed on the ovarian surgical sample found two previously undescribed mutations in the SMARCA4 gene and additional mutations in the CTNNB1 (Beta Catenin gene) and in PIK3CA. To our knowledge, this case probably represents the third cytologic report of this variant of ovarian carcinoma and the first one with molecular pathologic study.

"Stranger things" in the gut: uncommon items in gastrointestinal specimens.

Organic (such as parasites or vegetable remnants) and inorganic substances may be encountered during routine pathology diagnostic work up of endoscopic gastrointestinal biopsy samples and major resections, causing possible diagnostic conundrums for the young and not so young pathologists. The main aim of this review is the description of the most frequent oddities one can encounter as foreign bodies, in gastrointestinal pathology, on the basis of the current literature and personal experience. The types of encountered substances are divided into four principal categories: parasites (helminths such as Enterobius vermicularis, Strongyloides, Schistosoma, and Anisakis, and protozoa such as Entamoeba, Giardia and some intestinal coccidia); drugs and pharmaceutical fillers (found as deposits and as bystanders, innocent or not); seeds (possibly confused with worms) and plant remnants; pollutants (secondary to post-resection or post-biopsy contamination of the sample). An ample library of images is provided in order to consent easy referencing for diagnostic routine.

Unexpected 99mTcO4- Uptake by Lung Adenocarcinoma.

ABSTRACT: A 76-year-old woman underwent 99mTcO4- thyroid scintigraphy to clarify thyrotoxicosis. In addition to suppressed thyroid uptake, an atypical tracer accumulation appeared on already know pulmonary adenocarcinoma in the left lung upper lobe. Surgical pathology was reviewed confirming the diagnosis of lung adenocarcinoma with focal mucins production and excluding a misdiagnosed differentiated thyroid carcinoma metastasis.

Breast Carcinomatous Lymphangitis as an Unusual Presentation of Ovarian Cancer.

We describe the case of a 45-year-old woman with an unusual presentation of metastatic ovarian cancer. The patient presented to the oncological clinic with a three-week history of skin rash on the right breast. She underwent a chest and abdomen CT scan, which showed skin thickening of the right breast, right pleural effusion and bilateral cystic ovarian masses. Biopsy of a left ovarian lesion by diagnostic laparoscopy revealed the presence of ovarian serous carcinoma. Biopsy of the breast skin lesion revealed the presence of carcinomatous lymphangitis and immunohistochemistry documented the ovarian origin.

The Seeds of Doubt: Finding Seeds in Intriguing Places.

Introduction: Seeds may be found in gastrointestinal tissue samples, and their multifaceted appearance may be challenging. The aim is to report a rough incidence of pathology samples which show seeds, specify the most frequent sample types and show an iconography of the most commonly identified seeds. Materials and Methods: Between 2017 and 2020, all gastrointestinal pathology cases in which seeds/seed parts were found, were collected and seed type described by referencing a seed image library. Results: Fifty cases with complete seeds/seed parts were collected: 16 colonic resections for colorectal cancer and diverticulosis, 13 appendiceal resections for appendicitis, 1 gastric resection. Fifteen cases were found in polypectomy specimens and 5 cases in colorectal endoscopic biopsies. Most frequent seed types were tomato, kiwi, blueberry, and blackberry seeds. Conclusion: Seeds may be found in up to 4% of specimens; their recognition may be useful to exclude parasitic infections as well as in forensic sciences.

Sentinel lymph node intraoperative analysis in endometrial cancer.

PURPOSE: Surgical staging in endometrial cancer has evolved and sentinel lymph node (SLN) mapping has replaced a full pelvic and paraaortic lymphadenectomy in several cases. An intraoperative evaluation of SLN might identify patients who could benefit the most from a full lymphadenectomy. The aim of this study is to evaluate the clinical relevance of frozen section of SLN. METHODS: A retrospective analysis in patients with endometrial cancer who underwent SLN mapping with intraoperative evaluation at frozen section between February 2016 and September 2019 was performed. In case of metastatic involvement, a full lymphadenectomy was performed. RESULTS: Fifty-eight patients met the inclusion criteria. Clinical-pathologic characteristics of the patients and surgical data were analyzed. Overall, bilateral and unilateral detection rates were 100% (58/58), 89.7% (52/58), and 10.3% (6/58), respectively. Eight patients had a stage IIIC disease at permanent section. Frozen section detected SLN metastases in four of eight patients. Of these, two were micrometastases and two were macrometastases. At frozen section of the SLNs, no macrometastases were misdiagnosed. Sensitivity, specificity, accuracy, positive predictive value and negative predictive value of frozen section in detecting metastases was 50%, 100%, 93%, 100% and 92.6%, respectively. CONCLUSION: The intraoperative evaluation of SLN in endometrial cancer accurately identifies patients with macrometastases. This is the cohort that might benefit the most of a full lymphadenectomy for a higher risk of additional lymph node metastases.

Immunohistochemistry on old archival paraffin blocks: is there an expiry date?

Few studies have focused on antigen preservation in formalin-fixed and paraffin-embedded (FFPE) tissue in old archival material and additional studies are required, especially considering that these samples are an irreplaceable resource for scientific and clinical research. The purpose of this study is to verify antigen preservation in FFPE tissue samples stored for several decades. From the pathology archives, FFPE blocks were selected dating back to the 1960s, 1970s, 1980s, 1990s, 2000s and 2010. A panel of 12 antibodies was applied and immunoreactivities were compared. While cytoplasmic antigens showed no reduction in immunostaining intensity over time, membrane and nuclear antigens presented reduced staining intensity in older blocks. In particular, the nuclear antigen, Ki67 and CD31 showed the most pronounced antigen decay in the oldest archival blocks. In order to test possible antigen recovery, deep sectioning and lengthening of heat pretreatment were applied. Both strategies partially recover antigenicity, but their simultaneous application shows the best results.

Small Bowel Carcinomas in Coeliac or Crohn's Disease: Clinico-pathological, Molecular, and Prognostic Features. A Study From the Small Bowel Cancer Italian Consortium.

BACKGROUND AND AIMS: An increased risk of small bowel carcinoma [SBC] has been reported in coeliac disease [CD] and Crohn's disease [CrD]. We explored clinico-pathological, molecular, and prognostic features of CD-associated SBC [CD-SBC] and CrD-associated SBC [CrD-SBC] in comparison with sporadic SBC [spo-SBC]. METHODS: A total of 76 patients undergoing surgical resection for non-familial SBC [26 CD-SBC, 25 CrD-SBC, 25 spo-SBC] were retrospectively enrolled to investigate patients' survival and histological and molecular features including microsatellite instability [MSI] and KRAS/NRAS, BRAF, PIK3CA, TP53, HER2 gene alterations. RESULTS: CD-SBC showed a significantly better sex-, age-, and stage-adjusted overall and cancer-specific survival than CrD-SBC, whereas no significant difference was found between spo-SBC and either CD-SBC or CrD-SBC. CD-SBC exhibited a significantly higher rate of MSI and median tumour-infiltrating lymphocytes [TIL] than CrD-SBC and spo-SBC. Among the whole SBC series, both MSI─which was the result of MLH1 promoter methylation in all but one cases─and high TIL density were associated with improved survival at univariable and stage-inclusive multivariable analysis. However, only TILs retained prognostic power when clinical subgroups were added to the multivariable model. KRAS mutation and HER2 amplification were detected in 30% and 7% of cases, respectively, without prognostic implications. CONCLUSIONS: In comparison with CrD-SBC, CD-SBC patients harbour MSI and high TILs more frequently and show better outcome. This seems mainly due to their higher TIL density, which at multivariable analysis showed an independent prognostic value. MSI/TIL status, KRAS mutations and HER2 amplification might help in stratifying patients for targeted anti-cancer therapy.

Identification and characterization of human papillomavirus DNA sequences in Italian breast cancer patients by PCR and line probe assay reverse hybridization.

Human papillomavirus (HPV) infection is known to play a fundamental role in cervical and other ano-genital human cancers. The recent identification of HPVs in human breast tumors and the immortalization of normal breast cancer cells by HPV high risk types 16 and 18 suggest that the virus could be implicated in the pathogenesis of human mammary tumors. In this study, we investigated the presence of high and low risk HPV genotypes in 30 human breast cancers of different histotypes by PCR with specific HPV primers (MY09/MY11 and GP5+/GP6+) and by line probe assay (LiPA) reverse hybridization. Since the only positive case (untypable HPVX+) was a papillary breast carcinoma, a rare tumor variant, we analyzed a further cohort of 32 papillary cancers and found one additional HPV DNA-positive case (HPV66+). Our results suggest that HPV infection is not significant in mammary tumorigenesis, with the exception of particular tumor histotypes, such as papillary cancer.