Rectal Phenotype of Perianal Paget Disease: Rare Concomitant Phenomena

Aim: Classically, ‘Paget disease’ refers to a distinct histological pattern in breast carcinoma. Here, we review the clinicopathological features of anorectal adenocarcinoma with ‘pagetoid’ spread. Materials and Methods: Histological and immunohistochemical records for 11 cases of anorectal adenocarcinoma with pagetoid spread among 958 Japanese patients with primary rectal/anal carcinoma were reviewed. Results: Grossly, nine of 11 cases had areas of invasive carcinoma: Tubular adenocarcinoma in eight and neuroendocrine carcinoma in one. Pagetoid components were positive for cytokeratin 7 in eight cases, cytokeratin 20 and caudal type homeobox 2 in all 11 cases, and p63 in one case, but were negative for estrogen receptor, progesterone receptor, human epidermal growth factor receptor 2 (HER2), gross cystic disease fluid protein-15, and GATA binding protein 3. Conclusion: The prevalence of perianal Paget disease in this series was 1.1%, with two cases of genuine perianal Paget disease with a rectal phenotype without invasive carcinoma. The rectal phenotype of perianal Paget disease may not be associated with HER2 overexpression.

Cistoadenocarcinoma mucinoso retroperitoneal primário em mulher que apresentou recidiva: um raro relato de caso no interior de São Paulo

Objetivo: Colaborar com o número de casos publicados, visto a escassez na literatura mundial e raridade da doença estudada, contribuindo para a propedêutica e futuras metanálises. Detalhamento do caso: Paciente do sexo feminino, 46 anos, apenas hipertensa prévia, deu entrada em hospital terciário pela equipe da cirurgia geral com suspeita de cisto retroperitoneal. Foi submetida a laparotomia e excisão de massa que pesou aproximadamente 2,5 kg na análise realizada pela equipe de patologia. O diagnóstico foi de Cistoadenocarcinoma Mucinoso Retroperitoneal Grau II com imunohistoquímica “Cytokeratin 7” positivo difuso, “Cytokeratin 20” positivo focal, “MUC5AC” positivo, “CDX2” positivo em raras células. Foi submetida a 6 sessões de quimioterapia com Carboplatina e Paclitaxel com queda do marcador CA-125 e boa resposta ao tratamento. No seguimento, após 11 meses, apresentou recidiva com metástase hepática e marcador CA125 elevado, sendo novamente reiniciada a quimioterapia, porém, paciente evoluiu com quadro de insuficiência respiratória evoluindo a óbito no final do ano de 2017. Considerações finais: O PRMCa é um tumor raro e ainda com escassa literatura que nos auxilie acerca dos fatores de risco, estadiamento do tumor e tratamento adequado que diminua a chance de recidivas. Este caso auxiliará diagnósticos e tratamentos futuros.

Diffuse Pagetoid Squamous Cell Carcinoma in Situ of the Esophagus: A Rare Case Report and Review of Literature

Squamous cell carcinoma in situ (SCCIS) with diffuse pagetoid features has been well-described in skin and external genitalia. Diffuse pagetoid SCCIS of the esophagus is extremely rare with only two cases published in the English literature. In this article, we report a rare case of diffuse pagetoid SCCIS of the esophagus in an 89-year-old female with no significant past medical history who presented with dysphagia. Endoscopic examination of the esophagus was remarkable for multiple clean base ulcers spanning 4 cm in the proximal esophagus. Biopsy showed enlarged and hyperchromatic dysplastic cells in the basal half of the epithelium with scattered large individual pagetoid cells as well as several apoptotic dyskeratotic cells in the superficial half of the epithelium. Immunohistochemically, the dysplastic cells were positive for CK7 and p40 with overexpression of p53, and were negative for cytokeratin 20, SOX10, GATA3, CDX2, TTF1. Kreyberg stain was negative for mucin. The histologic features and immunohistochemical profile supported the diagnosis of esophageal diffuse pagetoid SCCIS.

Eosinophilic Solid and Cystic Renal Cell Carcinoma With Melanin Pigment—Expanding the Morphological Spectrum

Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is an emerging entity in renal neoplasia with distinctive histopathological findings and a generally favorable prognosis. The presence of melanin pigment in a renal tumor typically prompts the observer to consider the microphthalmia-associated transcription family translocation renal cell carcinomas. We present a renal tumor occurring in a 19-year-old male patient which had the typical morphology of ESC-RCC but showed the additional finding of focal melanin pigment. This tumor showed strong and diffuse positive immunolabeling with paired box gene 8 and cytokeratin 20, and was negative with epithelial membrane antigen, carbonic anhydrase 9, CD117, cytokeratin 7, and transcription factor E3. Human melanoma black-45 showed focal positivity, but Melan-A was negative. Next-generation sequencing revealed a mutation in the TSC2 gene (c.4490C > G, p.[Pro1497Arg] and c.1257 + 1del) and break apart fluorescence in-situ hybridization with TFE3 and TFEB probes was negative. In this case report, we present the novel finding of melanin pigment occurring in a genetically proven and otherwise typical ESC-RCC, and briefly discuss the differential diagnostic considerations.

Utility of molecular analysis of peritoneal fluid in staging laparoscopy of advanced oesophagogastric junction and gastric cancer prior to neoadjuvant treatment

The significance of molecular analysis of peritoneal fluid in staging laparoscopy of oesophagogastric junction (EGJ) and gastric cancer is still controversial. METHODS: A retrospective analysis of prospective data collection of all patients diagnosed with locally advanced gastric neoplasia or Siewert II-III EGJ cancer from July 2009 to October 2019 who underwent staging peritoneal lavage prior to neoadjuvant treatment was performed. Cytology studies and molecular analysis of peritoneal lavage were performed by real-time reverse transcriptase polymerase chain reaction (RT_PCR) of carcinoembryonic antigen (CEA) and cytokeratin 20 (CK20) as tumor makers. RESULTS: 168 patients were operated. Citology and molecular analysis were performed in 138 patients. Macroscopic carcinomatosis (P+) was evidenced in 12.3% (17 patients). Of the remaining 87.7% (121 patients), 9.9% (12 patients) had positive cytology. In 21% (29 patients) disseminated macroscopic or microscopic disease (P + or Cyt+) was identified. 11.6% (16 patients) were P0Cyt- but RT-PCR+. Of these, 9 responded to chemotherapy before salvage surgery. The sensitivity of cytology and molecular analysis was 0.70 and 0.76, respectively (p = 0.67). The survival of Cyt-RT_PCR + vs. Cyt + RT_PCR + patients was similar (p = 0.1). However, there were no differences in the survival curves between Cyt-RT_PCR- patients vs Cyt-RT_PCR + patients who underwent salvage surgery (p = 0.69). CONCLUSION: Molecular analysis showed a sensitivity of 76%. In our study, the survival of P0 Cyt-RT_PCR + patients responding to chemotherapy and undergoing surgery was similar to that of P0 Cyt-RT_PCR- patients but less disease free survival.

Clinicopathological Features of Low-Grade Appendiceal Mucinous Neoplasms Confined to the Appendix

ObjectiveTo investigate the clinicopathological features and follow-up of low-grade appendiceal mucinous neoplasms (LAMNs) confined to the appendix.MethodsThe clinicopathological features, pathological primary tumor (pT) staging and follow-up of 22 patients with LAMNs confined to the appendix were analyzed retrospectively.ResultsOf 22 patients with LAMNs, 14 were pTis (eight pTism and six pTisf), six were pT3, and two were pT4a. The appendiceal diameter was significantly larger for pTisf than for pTism. The interval between first symptoms and surgery was longer for pTisf than for pTism, but not significantly different. No significant differences were found between the pT stages and appendiceal diameter or in the interval between the first symptoms and surgery. Pathomorphologically, the epithelial structures were mainly flat (100%), undulating or scalloped (82%); a few showed filiform villous hyperplasia (46%), and seven (32%) had serrated lesions in the background. Diverticula may be associated with LAMNs, and the location of acellular mucin caused by diverticula affected the pT stage of the LAMNs. The immunohistochemistry information showed the same pattern with cytokeratin 7 (CK7) negative, cytokeratin 20 (CK20) positive and caudal type homeobox 2 (CDX-2) positive. No lymph node metastasis was found. The lack of treatment guidelines for LAMNs confined to the appendix and different acceptances of patients of preventive intervention led to varied clinical treatments. However, we found no short-term benefits of prophylactic extended resection or hyperthermic intraperitoneal chemotherapy.ConclusionLAMNs confined to the appendix are rare and must be differentiated from serrated lesions and diverticula. LAMNs with different pT stages have inert biological behavior. Determining the long-term effects of preventive treatment on survival and recurrence requires more data and a longer follow-up.

Longitudinal Analysis of Circulating Tumor Cells in Colorectal Cancer Patients by a Cytological and Molecular Approach: Feasibility and Clinical Application

IntroductionLiquid biopsies allowing for individualized risk stratification of cancer patients have become of high significance in individualized cancer diagnostics and treatment. The detection of circulating tumor cells (CTC) has proven to be highly relevant in risk prediction, e.g., in colorectal cancer (CRC) patients. In this study, we investigate the clinical relevance of longitudinal CTC detection over a course of follow-up after surgical resection of the tumor and correlate these findings with clinico-pathological characteristics.MethodsIn total, 49 patients with histologically proven colorectal carcinoma were recruited for this prospective study. Blood samples were analyzed for CTC presence by two methods: first by marker-dependent immunofluorescence staining combined with automated microscopy with the NYONE® cell imager and additionally, indirectly, by semi-quantitative Cytokeratin-20 (CK20) RT-qPCR. CTC quantification data were compared and correlated with the clinico-pathological parameters.ResultsDetection of CTC over a post-operative time course was feasible with both applied methods. In patients who were pre-operatively negative for CTCs with the NYONE® method or below the cut-off for relative CK20 mRNA expression after analysis by PCR, a statistically significant rise in the immediate post-operative CTC detection could be demonstrated. Further, in the cohort analyzed by PCR, we detected a lower CTC load in patients who were adjuvantly treated with chemotherapy compared to patients in the follow-up subgroup. This finding was contrary to the same patient subset analyzed with the NYONE® for CTC detection.ConclusionOur study investigates the occurrence of CTC in CRC patients after surgical resection of the primary tumor and during postoperative follow-up. The resection of the tumor has an impact on the CTC quantity and the longitudinal CTC analysis supports the significance of CTC as a prognostic biomarker. Future investigations with an even more extended follow-up period and larger patient cohorts will have to validate our results and may help to define an optimal longitudinal sampling scheme for liquid biopsies in the post-operative monitoring of cancer patients to enable tailored therapy concepts for precision medicine.

Colon Cancer With Metastatic Involvement of the Thyroid Incidentally Found at Excision of Parathyroid Adenoma

Metastatic disease from primary colon cancer in the thyroid is rare. The authors have submitted such a case. What makes this case particularly unusual is that it was in a man. 80% of such cases are in women. It has been speculated that there may be a humoral component. What is even more unique in this case is that it was found during the workup of a symptomatic parathyroid adenoma. The diagnosis was confirmed with immunochemistry using markers Cytokeratin 20 (CK20), Cytokeratin 7 (CK7), and Thyroid Transcription Factor 1 (TTF-1) .