Epidemiological profile of soft tissue sarcomas of the extremities: Incidence, histological subtypes, and primary sites.

BACKGROUND: Soft tissue sarcomas (STS) are a heterogeneous group of rare tumours that represent less than 1% of all malignant, solid tumours in adults. There is limited epidemiological information regarding STS in Latin America. Therefore, the objective of this study is to present an epidemiological profile of these tumours observed at a single reference centre. METHODS: A retrospective study was carried out based on hospital records obtained from a registry of 879 patients with STS of the extremities who were treated at the National Cancer Institute of Mexico from January 1, 1994 to December 31, 2017. Epidemiological variables and relevant clinical data were collected. Five-year survival rates were analysed using Kaplan-Meier estimates, and a multivariate Cox proportional-hazards model measured associations. RESULTS: A total of 879 records were collected. The median age was 45 years (15-95 years), and the ratio of men to women was 1:1, with 433 men (49.3%), and 446 women (50.7%). The median tumour size was 11.4 cm (2-49 cm). The most prevalent histological variants were liposarcomas and synovial sarcomas. The lower limb was the most frequently affected extremity, with the thigh being the most common site followed by the leg. A majority of the patients were diagnosed at clinical stages IIIA-IV. CONCLUSIONS: The data collected from the present cohort provides an overview of the epidemiological profile of STS at a single reference centre in Latin America, and allow comparison with global data.

Should metastatic lymph nodes be considered at the same clinical stage as distant metastasis in soft tissue sarcomas?

INTRODUCTION: Lymph node metastasis (LNM) in soft tissue sarcomas (STS) are uncommon, occurring in only 3% - 5% of all sarcomas, and are classified as Stage IV, along with distant metastasis (DM). This paper compares the prognosis of patients with lymphatic and DM, in extremity STS (eSTS). METHODS: A retrospective study was carried out in a high-volume sarcoma center; 853 patients with eSTS sarcomas were identified and classified from January 1, 1997 to December 31, 2017. Cases with pathological confirmation of LNM were included. Five-year survival rates were analyzed using the Kaplan-Meier method and the Cox proportional hazards model. RESULTS: LNM was present in 46 of the cases (5.4%), with an overall survival of 21 months (95% confidence interval [CI], 16.7 - 25.2), compared to 18 months (95% confidence interval [CI], 14.2 - 21.7) in those with only DM. Median recurrence-free survival was 21 months (95% confidence interval [CI], 19.7 - 22.4), vs. 20 months (95% confidence interval [CI], 16.2- 23.7), respectively. LNM only and DM only had also a similar OS of 21 months (95% CI 16.7-25.2) vs 18 months (95% CI 14.2-21.7. N1M1 cases had the worse median OS with 15 months (95% confidence interval [CI], 10.9-19.7) CONCLUSIONS: Overall survival and recurrence free survival in patients with lymph node disease and metastatic disease are similar. However prognosis is worse in N1M1. Use of systemic treatment in patients with LNM is not as common as in metastatic cases, this difference in treatment and the fact that prognosis is similar suggests that both biological behavior and effect of treatment have been underestimated. A subclassification of clinical stage IV might be the next step.

Desmoid-Type Fibromatosis.

Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5-15% show a hereditary pattern associated with APC gene mutation, both resulting in abnormal ß-catenin accumulation within the cell. The most common sites of presentation are the extremities and the thoracic wall, whereas FAP associated cases present intra-abdominally or in the abdominal wall. Histopathological diagnosis is mandatory, and evaluation is guided with imaging studies ranging from ultrasound, computed tomography or magnetic resonance. Current approaches advocate for an initial active surveillance period due to the stabilization and even regression capacity of desmoid tumors. For progressive, symptomatic, or disabling cases, systemic treatment, radiotherapy or surgery may be used. This is a narrative review of this uncommon disease; we present current knowledge about molecular pathogenesis, diagnosis and treatment.

Frequency of BRAF V600E Mutation in the Mexican Population of Patients With Metastatic Melanoma.

PURPOSE: The BRAF V600E mutation has been described in melanomas occurring in the Caucasian, European, and Asian populations. However, in the Mexican population, the status and clinical significance of BRAF mutation has not been researched on a large scale. METHODS: Consecutive BRAF-tested Mexican patients with metastatic melanoma (n = 127) were analyzed for mutations in exon 15 of the BRAF gene in genomic DNA by real-time polymerase chain reaction technology for amplification and detection. The results were correlated with the clinical-pathologic features and the prognosis of the patients. RESULTS: The frequency of somatic mutation V600E within the BRAF gene was 54.6% (43 of 127 patients). Nodular melanoma was the most prevalent subtype in our population, with BRAF mutations in 37.2% (16 of 55 patients). In contrast, superficial spread had a frequency of 18.6% BRAF mutation (eight of 24). Other clinicopathologic features were assessed to correlate with the mutation status. CONCLUSION: This study searched for the most prevalent BRAF V600E mutation type in melanoma in a heterogeneous population from Mexico. Nodular melanoma was found to be the most prevalent in metastatic presentation and the presence of BRAF V600E mutation, perhaps related to the mixed ancestry; in the north, ancestry is predominantly European and in the south, it is predominantly Asian. The outcomes of the mutation correlations were similar to those found in other populations.

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.

Carcinoma de células acinares de glándula lacrimal metastásico en columna torácica. Reporte de un caso y revisión de la literatura / Acinar cell carcinoma of lacrimal gland metastatic a thoracic spine. Case report and literature review

Resumen El carcinoma de células acinares es una neoplasia poco frecuente que se presenta principalmente en las glándulas salivales. Presentamos el caso de un paciente femenino de 48 años con dolor, paresia palpebral derecha y aumento de volumen. Biopsia que confirma diagnóstico, manejada con exenteración orbitaria derecha más RT. Durante seguimiento seis años después se presenta dolor columna dorsal, RMN con lesión osteoblástica en T2 biopsia con metástasis de carcinoma de células acinares. Debido a su baja incidencia el comportamiento del carcinoma de células acinares de la glán dula lacrimal es incierto, no hay reportes en la literatura de lesiones metastásicas únicas en columna.

Abstract Acinar cell carcinoma is a rare neoplasm occurs primarily in the salivary glands. We report the case of a female patient of 48 years with pain, right palpebral paresis, and increased volume. Biopsy confirmed diagnosis, handled right exenteration more RT. During follow-up six years after dorsal spine pain, MRI with T2 lesion biopsy osteoblastic metastatic carcinoma of acinar cells. Because of its low incidence behavior acinar cell carcinoma of the lacrimal gland is uncertain, there are no reports in the literature of metastatic lesions unique column.

Treatment of intimal sarcoma of peripheral veins.

INTRODUCTION: Intimal sarcoma is an extremely rare group of undifferentiated pleomorphic sarcoma arising from the intimal layer of vessels accounting for only 1% of all sarcomas, intimal sarcoma of large veins are even less common. CASES PRESENTATION: We present two cases of intima sarcoma, one originated form the basilar vein and the other from the cephalic vein, the first one was treated with surgery and postoperative chemotherapy followed by Radiotherapy (RT), the second case was treated with isolated limb perfusion followed by marginal resection and RT. Both patients progressed to the lungs in a short time, the first case was treated with metastasectomy of the lung and is without evidence of disease 7months after surgery; the second case treated with isolated limb perfusion has stable disease. DISCUSSION: Intimal sarcoma are very aggressive tumors, with a high metastatic potential, the two patients progressed to lung in a short time (2months) after local treatment. Both cases exhibit good response to chemotherapy and metastasectomy with a disease - free period of 7months. CONCLUSION: We propose that given the aggressive behavior of these tumors, they should be treated with chemoradiotherapy postoperative, either by systemic chemotherapy or isolated limb perfusion for the limp sparing surgery in this histology.

Melanoma in Mexico: Clinicopathologic Features in a Population with Predominance of Acral Lentiginous Subtype.

BACKGROUND: The aim of this study was to analyze the clinicopathologic features of melanoma in México as the demographics of melanoma are not well known in Mexican and Latin American people. MATERIALS AND METHODS: A total of 1219 patients with cutaneous melanoma were analyzed through a retrospective database collected from a cancer referral institute, and the results were compared with developed countries. RESULTS: Median age was 57 years, and 713 (58.5 %) were females. The most common melanoma subtype was acral lentiginous melanoma (ALM), which was observed in 538 (44.1 %) patients. Median Breslow thickness was 5.2 mm. Among 837 patients with complete data, the 5-year disease-specific survival (DSS) was 52.3 %. Factors associated with worse DSS on univariate analysis were Breslow thickness (p < 0.001), recurrence (p < 0.001), ulceration (p < 0.001), positive margin (p < 0.001), ALM (p = 0.001), and male sex (p = 0.001). Multivariate analysis demonstrated Breslow thickness [hazard ratio (HR) 1.45, 95 % confidence interval (CI) 1.27-1.65; p < 0.001], positive margin (HR 1.25, 95 % CI 1.03-1.57; p = 0.018), recurrence (HR 9.56, 95 % CI 6.89-9.87; p = 0.002), ALM (HR 8.07, 95 % CI 6.77-8.95; p = 0.004), and male sex (HR 1.33, 95 % CI 1.06-1.68; p = 0.013) as independent risk factors for DSS. CONCLUSION: Our patients had worse prognosis compared with data from the US Surveillance, Epidemiology, and End Results database. We found male sex and ALM as independent risk factors for worse survival, in addition to known risk factors.

Oncology outcomes in Retroperitoneal sarcomas: Prognostic factors in a Retrospective Cohort study.

INTRODUCTION: Retroperitoneal sarcomas are a rare group of malignant soft tissue tumors with a generally poor prognosis. The aim of the study was to define the demographic characteristics and prognostic factors for patients with retroperitoneal sarcomas (RPS) in a Tertiary Referral Center at Mexico. METHODS: A retrospective study of patients with RPS treated from January 2005 to December 2012 at the National Cancer Institute at Mexico. Patient, tumor and treatment variables were analyzed including use of adjuvant therapy and survival status. Survival and local recurrence curves were estimated using the Kaplan-Meier method. RESULTS: Ninety-five patients with a mean age of 47 years with retroperitoneal sarcoma were included. Median follow-up was 25 months (range 1-108 months). The average tumor size was 23.7 cm. Histology, 58 (61.1%) were liposarcoma, 14 (14.7%), leiomyosarcomas and 23 (24.2%) were from other histologies. In 64 (67.4%) patients were high-grade malignancies. The median survival was 51 months for patients with complete resection, 25.1 months for those with incomplete resection, and 4.4 months for those with unresectable tumors. Complete resection (p = 0.0001), and liposarcoma (p = 0.03) were prognostic factors for overall survival. CONCLUSION: In this study of patients with retroperitoneal, complete resection and liposarcoma histology are prognostic factors related to the disease-free and overall survival. Patients approached with curative intent should undergo aggressive attempts at complete surgical resection.

Primary retroperitoneal Merkel cell carcinoma: Case report and literature review.

BACKGROUND: Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine carcinoma that affects elderly patients and typically arises in sun-exposed skin. The disease is very rare and only few cases present with no apparent skin lesion. In the retroperitoneum there are only two cases reported in the literature. CASE PRESENTATION: We report a case of a 54-year-old Mexican male with MCC, which presented as a large retroperitoneal mass. Pathological and immunohistochemical analysis of the transabdominal CT-guided biopsy specimen revealed a MCC. The patient underwent preoperative chemotherapy followed by a laparotomy and the mass was successfully excised. DISCUSSION: There are two possible explanations for what occurred in our patient. The most plausible theory is the retroperitoneal mass could be a massively enlarged lymph node where precursor cells became neoplastic. This would be consistent with a presumptive diagnosis of primary nodal disease. Moreover, metastasis to the retroperitoneal lymph nodes has been reported as relatively common when compared to other sites such as liver, bone, brain and skin. The less probable theory is the non-described "regression" phenomena of a cutaneous MCC, but we are not found a primary skin lesion. CONCLUSION: Preoperative chemotherapy and excision of the primary tumor is the surgical treatment of choice for retroperitoneal MCC. We propose that further studies are needed to elucidate the true efficacy of chemotherapy in conventional and unconventional patients with MCC.

[Molecular classification of breast cancer]. / Clasificación molecular del cáncer de mama.

Breast cancer is classified based on clinical stage, cellular morphology and immunohistochemical analysis. More precise prognostic factors are necessary to aid with therapeutic decisions. Breast cancer subtypes that differ in their genetic expression and prognosis have been determined using cDNA microarrays. These findings confirm the differences between the phenotypes and provide new knowledge about the biology of breast cancer. Based on the presence or absence of expression of the estrogen receptor (ER), breast cancer is divided in two groups: ER+ and ER-. Genetic expression profile has identified two subtypes of the ER+ tumors: luminal A and luminal B. ER- tumors also include two subtypes, the HER2+ and the basal type. These subtypes differ in their biology and both demonstrate short disease-free periods after treatment and poorer outcome. This classification has shown the relationship between cDNA microarrays and clinical outcome of these tumors. This classification is proposed as a method of identifying those patients who will demonstrate better results with the different adjuvant modalities.

Clasificación molecular del cáncer de mama / Molecular classification of breast cancer

Breast cancer is classified based on clinical stage, cellular morphology and immunohistochemical analysis. More precise prognostic factors are necessary to aid with therapeutic decisions. Breast cancer subtypes that differ in their genetic expression and prognosis have been determined using cDNA microarrays. These findings confirm the differences between the phenotypes and provide new knowledge about the biology of breast cancer. Based on the presence or absence of expression of the estrogen receptor (ER), breast cancer is divided in two groups: ER+ and ER-. Genetic expression profile has identified two subtypes of the ER+ tumors: luminal A and luminal B. ER- tumors also include two subtypes, the HER2+ and the basal type. These subtypes differ in their biology and both demonstrate short disease-free periods after treatment and poorer outcome. This classification has shown the relationship between cDNA microarrays and clinical outcome of these tumors. This classification is proposed as a method of identifying those patients who will demonstrate better results with the different adjuvant modalities.

[Clear cell sarcoma and sentinel lymph node biopsy. Case report and literature review]. / Sarcoma de células claras y ganglio centinela. Reporte de un caso y revisión de la literatura.

The procedure of sentinel node biopsy has been used previously in clear cell sarcoma. There are few studies reported. Due to the similar biological features with melanoma, this procedure can be effective. Sentinel biopsy is an option to detect nodal subclinical metastases. A 19-year-old man presented with ulcerated lesion in the fifth finger of the left hand. The biopsy reported clear cell sarcoma. Immunohistochemistry was positive for Vimentin and S-100. There was no evidence of regional disease. The sentinel lymph node biopsy, using patent blue and Tc-99 rhenium, was positive for metastases. Axillar dissection was carried out. The final report confirmed three metastasic nodes and the patient received adjuvant chemotherapy.

Diagnóstico y tratamiento de lesiones mamarias no palpables / Diagnosis and treatment of non-palpable mammary lesions

Introducción: el incremento en el uso de la mastografía, ha propiciado aumento en la identificación de lesiones mamarias no palpables. Algunas de éstas corresponden a carcinomas mamarios. Material y método: entre 1991 y 1997 se atendió en la Clínica Londres, a 54 mujeres con lesiones mamarias no palpables. Se colocó un arpón metálico bajo control mastográfico señalando la lesión mamaria. Posteriormente se efectuó biopsia excisional, guiándose por la aguja. En todos los casos se envió la pieza quirúrgica a estudio histológico. Resultados: se realizaron 63 localizaciones. Las imágenes mastográficas que motivaron la localización con arpón metálico y biopsia, fueron microcalcificaciones en 28 casos (44 por ciento), tumores sólidos en 28 (44 por ciento) e imágenes mixtas en seis (12 por ciento). Se encontraron carcinomas invasores en siete piezas quirúrgicas (11 por ciento), carcinoma in situ en cuatro (6 por ciento e hiperplasia ductal atípica en otros cuatro (6 por ciento) e hiperplasia ductal atípica en otros cuatro (6 por ciento). El resto correspondió a lesiones benignas. Se concluyó que la localización preoperatoria con arpón metálico y la biopsia excisional, es un método adecuado para diagnósticar lesiones mamarias no palpables. Requiere de un equipo multidisciplinario para su aprovechamiento óptimo