Primary Duodenal Melanoma: Challenges in Diagnosis and Management of a Rare Entity

Primary melanoma of the duodenum is an extremely rare, aggressive and life-threatening malignant neoplasm. Published data regarding the effectiveness of current treatment strategies is limited, and our knowledge relies mostly on sporadic case reports. The diagnosis of primary duodenal melanoma is challenging and is based on the patient’s medical history and findings from physical examination and radiological and endoscopic imaging as well as proper and careful pathological examinations of the tumor. Despite the many advances in cancer treatment, the prognosis for patients with this type of melanoma remains extremely poor. Delayed diagnosis at advanced disease stage, the general aggressive behavior of this neoplasm, the technical difficulty in achieving complete surgical resection, along with the rich vascular and lymphatic drainage of the intestinal mucosa, all have a negative impact on patients’ outcome. In the present review, we aimed to collect and summarize the currently available data in the literature regarding the pathogenesis, clinical features, diagnosis, management and long-term outcomes of this rare, malignant tumor, in order to expand knowledge of its biological behavior and investigate optimal therapeutic options for these patients. Additionally, we present our experience of a case involving a 73-year-old female with primary duodenal melanoma, who was successfully treated with complete surgical resection

Gastrointestinal Stromal Tumor With chondrosarcomatous Dedifferentiation Following Imatinib Therapy

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract, followed by schwannomas, lipomas, leiomyomas, and vascular tumors. They arise more often in the stomach, followed by the small bowel, esophagus, and rectum. Imatinib mesylate, a tyrosine kinase inhibitor with activity against ABL, BCR-ABL, platelet-derived growth factor receptor-alpha (PDGFRA), and c-KIT (CD117), constitutes the cornerstone of treatment for inoperable or metastatic GIST. Cases showing disease progression or resistance to imatinib mesylate may retain their morphology or present unusual morphologic and immunohistochemical characteristics. We herein describe a case of a 67-year-old patient with a previous history of GIST of the stomach, with local recurrence, who was admitted with a workup of lung nodule on chest computed tomography as part of the routine follow-up. The nodule was resected which showed a malignant tumor composed of epithelioid cells, with an abrupt transition to chondrosarcoma. Epithelioid cells were immunostained for CD117, DOG1, and Vimentin, whereas chondrosarcomatous cells expressed only Vimentin. These findings were consistent with metachronous pulmonary metastasis of the previously diagnosed GIST with chondrosarcomatous dedifferentiation. No KIT or PDGFRA mutation was detected. A review of all accessible pertinent papers disclosed 26 similar cases with unusual morphological and immunohistochemical findings, either postimatinib treatment or, less commonly, de novo, with heterogeneous differentiation. Awareness of the histological and immunohistochemical changes in GISTs post imatinib therapy is essential to avoid a severe diagnostic pitfall

Axillary Lymph Node Metastasis from Ovarian Carcinoma: A Systematic Review of the Literature

Background: Axillary lymph node metastasis is a rare stage IV ovarian carcinoma manifestation. This manuscript aims to systematically review the literature regarding axillary lymph node metastasis from ovarian carcinoma. Methods: We searched three medical internet databases (PubMed, Scopus, and Web of Science) for relevant articles published until 22 July 2023. Cases describing supraclavicular or intramammary lymph node metastases and concurrent metastasis to the breast were excluded. Results: After applying eligibility/inclusion and exclusion criteria, twenty-one manuscripts describing twenty-five cases were included from the English literature. Data were collected and analyzed regarding demographic, clinical, laboratory, radiological, histopathological, and oncological characteristics. Conclusions: We analyzed the clinical and oncological characteristics of patients with axillary lymph node metastasis from ovarian carcinoma, presented either as an initial diagnosis of the disease or as a recurrent disease. The analysis we performed showed a significant difference only in the serum CA-125 level (p = 0.004) between the two groups. There was no observed difference in womens’ survival

A Case of Prostatic Signet-Ring Cell-like Carcinoma with Pagetoid Spread and Intraductal Carcinoma and Long-Term Survival: PD-L1 and Mismatch Repair System Proteins (MMR) Immunohistochemical Evaluation with Systematic Literature Review

Prostatic adenocarcinoma (PA) is the second most common malignancy in men globally. Signet-ring cell-like adenocarcinoma (SRCC) is a very rare PA subtype, with around 200 cases reported in the English literature. Histologically, the tumor cells show a vacuole compressing the nucleus to the periphery. Pagetoid spread in acini and ducts is usually related to metastases from urothelial or colorectal carcinomas, less commonly associated with intraductal carcinoma (IC); histologically, the tumor cells grow between the acinar secretory and basal cell layers. To our knowledge, we report the first prostatic SRCC (Gleason score 10, stage pT3b) associated with IC and pagetoid spread to prostatic acini and seminal vesicles. To our systematic literature review (PRISMA guidelines), it is the first tested case for both PD-L1 (<1% of positive tumor cells, clone 22C3) and mismatch repair system proteins (MMR) (MLH1+/MSH2+/PMS2+/MSH6+). We found no SRCC previously tested for MMR, while only four previous cases showed high expression of another PD-L1 clone (28-8). Finally, we discussed the differential diagnoses of prostatic SRCC

Diagnostically Challenging Subtypes of Invasive Lobular Carcinomas: How to Avoid Potential Diagnostic Pitfalls

Invasive lobular carcinoma is the most common special breast carcinoma subtype, with unique morphological (discohesive cells, single-cell files, targetoid pattern) and immunohistochemical (loss of E-cadherin and β-catenin staining) features. Moreover, ILC displays a poor response to neoadjuvant therapy, a different metastatic pattern compared to invasive breast carcinoma of no special type, as well as unique molecular characteristics. In addition to the classic variant of invasive lobular carcinoma, several other well-recognized variants exist, including classic, alveolar, tubulolobular, solid, pleomorphic, signet-ring, and mixed. Furthermore, three novel variants of invasive lobular carcinoma, i.e., with extracellular mucin production, papillary features, and tubular elements, have been described during the last decade. We herewith focus on the unique morphological and immunohistochemical characteristics of these novel varieties of invasive lobular carcinoma, as well as differential diagnostic considerations and potential diagnostic pitfalls, especially when dealing with biopsy specimens