Desmoid Tumor of the Posterior Neck: A Case Report.

Desmoid tumors are rare. They account for roughly 0.03% of all neoplasms and less than 3% of all soft tissue tumors. They are locally aggressive tumors with no known metastatic potential or dedifferentiation. A 29-year-old woman with no family history of neoplasms presented with a mass in the cervical region and moderate pain that had developed a year before. The patient underwent marginal resection of the bilateral posterior and lateral compartments of the neck. The histopathological report confirmed the diagnosis of desmoid tumor with nuclear positivity for beta-catenin. The patient received radiotherapy but did not show a favorable response; she has stable disease and takes colchicine at one-year follow-up.

Characterization of triple negative breast cancer gene expression profiles in Mexican patients.

Triple negative breast cancer (TNBC) is an aggressive type of cancer that accounts for ~23% of breast tumors in Mexico. In an attempt to understand in an improved way the behavior of TNBC, throughout the years, gene expression in these tumors has been studied. Lehman et al identified 6 subtypes of gene expression in TNBC with distinct characteristics. In the present study, it was aimed to assess clinical, pathological and prognostic characteristics of TNBC in a Mexican-based cohort. A total of 55 patients diagnosed with TNBC at Mexico's National Institute of Cancer (INCan) were included. Tumor needle biopsy samples were obtained and subjected to microarray analysis. Patients were thus classified into one of the 6 TNBC molecular subtypes. The prognostic, clinical and pathological information of patients was obtained, and differences across molecular subtypes were sought. Out of the 55 included patients, the following subtypes were identified: 9 basal-like-1, 11 basal-like-2 (BSL2), 16 immunomodulatory (IM), 12 mesenchymal, 6 androgen receptor-like and 1 mesenchymal stem-like. Mean follow-up time was 47.1 months. The IM molecular subtype had the best overall survival (OS) (median OS was not reached). BSL2 had the worst OS (15 months). A complete pathologic response to neoadjuvant chemotherapy was obtained more often in the IM subtype (P=0.032). No significant associations were found between any of the clinical or pathological characteristics and the TNBC molecular subtypes. The results obtained from the present study should be considered when seeking to implement a clinical-molecular model for TNBC patient care, particularly in Hispanic-based populations, as they have been frequently underrepresented in clinical studies assessing TNBC molecular subtypes.

Synovial sarcoma with ossification and calcification with SS18 immunochemical expression and rearrangement by fluorescent in situ hybridization.

Synovial sarcoma is a soft tissue tumor of uncertain origin. Generally, it is a monophasic spindle cell neoplasm that can have glandular-like structures. Ossification and presence of calcification is a rare phenomenon with only a few reported cases. We present the case of a young male with a synovial sarcoma of the right foot. Histology revealed prominent deposits of tumoral osteoid and coarse calcifications. The diagnosis was confirmed by the expression of SS18 by immunohistochemistry and the demonstration of the rearrangement of the SS18 gene by fluorescent in situ hybridization. We reviewed the literature for synovial sarcoma with prominent ossification or calcification, and to the best of our knowledge, this is the first case with expression of SS18 by immunohistochemistry. The main differential diagnoses are osteosarcoma (both primary of bone and extraosseous) and sclerosing epithelioid fibrosarcoma.

Prognostic significance of tumor budding in melanoma.

Cutaneous melanoma is an aggressive neoplasm with growing incidence and continuous research is undertaken for novel prognostic factors. This current research aims to determine if tumor budding is an independent factor that correlates with the survival of patients with melanoma. A total of 742 cases of melanoma were evaluated. A receiver operating curve (ROC) was performed to analyze tumor budding impact on survival, identifying a cutoff point associated with death. Subsequently, two groups of participants were created based on that result. Participants within the two groups were compared for clinicopathologic characteristics and survival analysis. Also, a multivariate analysis was performed. Of the total, 447 (60.2%) melanomas occurred in women and 295 in men. The mean age was 57.5 years + 15.75. The most common location was in acral areas (68.2%) followed by trunk (16.7%) and head and neck (15.1%). At presentation, 142 cases (19.1%) presented as stage I, 307 (41.4%) as stage II, 269 (36.3%) as stage III, and 24 (3, 2%) in stage IV. Regarding tumor budding, 586 (79%) cases showed tumor budding (at least one bud in 0.785 mm 2 ), with a median of 5. From the ROC curve, 4.5 tumor buds/0.785 mm 2 was the best cutoff point for correlation with death, grouping the series in low budding (0-4 buds/0.785 mm 2 ) and high budding ( > 5 buds/0.785 mm 2 ). Cases with high tumor budding were associated with older age, acral location, advanced clinical stages, ulceration, recurrence, and death. High tumor budding was associated with a significant decrease in 5-year overall survival (94.4% vs. 55.5%, P < 0.001). In the multivariate analysis, the factors remaining as independent predictors of survival were acral location, clinical stage IV, recurrence during clinical follow-up, and high tumor budding. High tumor budding (>5 buds in 0.785 mm 2 ) independently correlates with 5-year overall survival rates and is associated with older age, acral location, advanced clinical stages, ulceration, recurrence, and death.

Immune Milieu and Genomic Alterations Set the Triple-Negative Breast Cancer Immunomodulatory Subtype Tumor Behavior.

Triple-negative breast cancer (TNBC) is an aggressive and heterogeneous disease. Seven subtypes have been described based on gene expression patterns. Herein, we characterized the tumor biology and clinical behavior of the immunomodulatory (IM) subtype. METHODS: Formalin-fixed paraffin-embedded tumor samples from 68 high-risk (stage III-IV) TNBC patients were analyzed through microarrays, immunohistochemistry, and DNA sequencing. RESULTS: The IM subtype was identified in 24% of TNBC tumor samples and characterized by a higher intratumoral (intT) and stromal (strml) infiltration of FOXP3+ TILs (Treg) compared with non-IM subtypes. Further, PD-L1+ (>1%) expression was significantly higher, as well as CTLA-4+ intT and strml expression in the IM subtype. Differential expression and gene set enrichment analysis identified biological processes associated with the immune system. Pathway analysis revealed enrichment of the ß-catenin signaling pathway. The non-coding analysis led to seven Long Intergenic Non-Protein Coding RNAs (lincRNAs) (6 up-regulated and 1 down-regulated) that were associated with a favorable prognosis in the TNBC-IM subtype. The DNA sequencing highlighted two genes relevant to immune system responses: CTNNB1 (Catenin ß-1) and IDH1. CONCLUSION: the IM subtype showed a distinct immune microenvironment, as well as subtype-specific genomic alterations. Characterizing TNBC at a molecular and transcriptomic level might guide immune-based therapy in this subgroup of patients.

Neutrophil/lymphocyte ratio is associated with survival in synovial sarcoma.

BACKGROUND: Synovial sarcoma is a rare malignant soft tissue tumor, more common in adolescents and young adults and entails a poor prognosis. Several good prognostic factors have been well established such as age less than 25, size less than 5 cm and absence of a poorly differentiated component. Inflammation has a well-established role in tumor proliferation and survival. The aim of this study was to investigate the prognostic significance of the neutrophil/lymphocyte ratio (NLR) in a large cohort of synovial sarcoma patients. METHODS: Retrospective study of 169 consecutive patients. We analyzed the relation of preoperative NLR on disease-free survival (DFS) and overall survival (OS) using Kaplan-Meier curves and Cox proportional models. RESULTS: Of the 169 patients included, there were 90(53.3%) females and 79(46.7%) males. Median age was 32yo (11-73). Median survival was 34.1 and mean disease-free survival was 21.4 months. Mean tumor size was 12.5 cm (1.2-77 cm). Applying receiver operating curve analysis, we determined a cut-off value of 3.5. In univariate and multivariate analysis, increased NLR was significantly associated with poor OS. A <3.5 NLR was an independent prognostic factor in all stages (p = 0.002). CONCLUSIONS: NLR >3.5 was found to be a reliable prognostic factor in this cohort. Given its widespread availability, we believe it's use in clinical practice and further clinical trials should be considered.

Utility of CD99 Paranuclear Expression in the Differential Diagnosis of Merkel Cell Carcinoma.

BACKGROUND: Recent reviews have referred to the paranuclear dot-like staining pattern of CD99 in several neoplasms, including solid pseudopapillary tumors in the pancreas, colonic adenocarcinomas, and colonic adenomas as well as in Merkel cell carcinoma (MCC). The aim of this work was to explore the utility of CD99 paranuclear staining in the differential diagnosis of MCC. MATERIAL AND METHODS: We explore paranuclear dot-like CD99 expression in several small, round blue cell neoplasms, including neuroendocrine neoplasms, Ewing sarcomas/primitive neuroectodermal tumors (EWS/PNET), melanomas, small cell lung carcinomas (SCC), lymphoblastic lymphoma/leukemia, and rhabdomyosarcomas, in comparison with 33 cases of MCC, to determine the specificity of the paranuclear dot-like CD99 expression in MCC. RESULTS: Twenty MCC (60%) demonstrated focal expression of CD99 and of those, 14 (42.4%) showed the characteristic paranuclear dot-like expression. CD99 was also paranuclear positive in 4 of 11 (36%) SCC, in 3 of 7 (43%) EWS/PNET, in 1 of 6 (16%) lymphoblastic lymphoma/leukemia cases, in 3 of 3 (100%) rhabdomyosarcomas and all melanomas were negative for the CD99 reaction. CONCLUSION: CD99 paranuclear dot-like expression was not exclusive of the MCC compared with several neoplasms included in its differential diagnosis. This expression is not a great diagnostic aid.