Síndrome de Li-Fraumeni Presentación metacrónica de sarcoma de tejidos blandos, sarcoma cardiaco y cáncer gástrico / Li-Fraumeni Syndrome Metachronous presentation of soft-tissue sarcoma, heart sarcoma and gastric cancer

Resumen El síndrome de Li-Fraumeni (SLF) es un trastorno autosómico dominante hereditario con predisposición al cáncer, está asociado con anomalías en el gen de la proteína tumoral p53 (TP53), que se manifiesta por una amplia gama de neoplasias malignas que aparecen a una edad temprana. Se expone al caso de un adulto joven en quien hicimos este diagnóstico, y se describen las perspectivas terapéuticas en investigación. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2198).

Abstract Li-Fraumeni syndrome (LFS) is a hereditary autosomal dominant disorder with a predisposition to cancer. It is associated with abnormalities of the tumor protein p53 (TP53) gene, manifesting with a broad range of malignant neoplasms which appear at an early age. We discuss the case of a young adult in whom we did this diagnosis, and we describe the therapeutic perspectives being researched. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2198).

Análise de marcadores sanguíneos em pacientes com osteossarcoma, sarcomas de partes moles e tumor desmóide / Analysis of blood markers in patients with soft tissue sarcoma and desmoid tumor

Introdução: O tumor desmoide (TD) é uma neoplasia rara com altas taxas de recorrência local, composto por células fibroblásticas que se caracterizam pela expressão de moléculas-chave, incluindo o filamento intermediário vimentina, ciclooxigenase-2 (COX-2) e ß-catenina nuclear. Células tumorais circulantes (CTCs) isoladas do sangue periférico de pacientes com sarcomas e outras neoplasias podem ser utilizadas como biomarcadores precoces de invasão e disseminação tumoral. A família dos Receptores do Fator de Crescimento Epidérmico (Epidermal Growth Factor Receptor, EGFR) também podem influenciar no processo de invasão das CTCs, na formação de metástases e na recolonização de seus tumores de origem por meio de um processo de "auto-semeadura do tumor". Objetivo: Nosso objetivo foi identificar CTCs no sangue periférico de pacientes com TD ou sarcomas e avaliar a expressão das proteínas ß-catenina, TGF-ßRI (do Inglês, Transforming Growth Factor-ß Receptor I), COX-2 (Cyclooxygenase2), vimentina, GLUT-1 (Glucose Transporter 1), LGR5 (G-Protein Coupled Receptor 5) e EGFR, e sua correlação com sobrevidas global (SG) e livre de progressão (SLP). Materiais e Métodos: Foi realizado um estudo prospectivo de pacientes com diagnóstico inicial ou TD recidivado com doença mensurável. Para sarcomas, utilizamos amostras coletadas de forma prospectiva e retrospectiva. As amostras de sangue de cada paciente foram processadas e filtradas pelo ISET® (Rarecells, França) para isolamento e quantificação de CTCs. A expressão das proteínas foi analisada por imunocitoquímica (ICC). Para análise molecular das CTCs provenientes de pacientes com TD foi padronizado o método de PCR digital. Resultados: Foram incluídos 18 pacientes com TD, todos com CTCs detectáveis, com níveis que variaram entre 0,5­13 CTCs/mL. Encontramos uma concordância da expressão de ß-catenina em CTCs e tumores primários de 42,8% (6/14) dos casos usando ICC e imunohistoquímica, respectivamente. Nos nossos testes prévios de PCR digital, encontramos cópias mutadas de S45Pro em 4 pacientes (40%) e de S45Phe em apenas um paciente (10%). Em contraste, não foram encontradas mutações Th41Ala. Nas amostras de sarcomas, analisamos 30 amostras e encontramos CTCs em 93% dos pacientes e os níveis variaram de 0-11,25 CTCs/mL. Observamos também que a SG dos pacientes positivos para EGFR (p=0,027) eram inferiores às sobrevidas dos pacientes negativos para as mesmas proteínas. Conclusões: Nosso estudo identificou alta prevalência de CTCs em pacientes com TD e sarcomas. A concordânciada expressão de ß-catenina entre tumor primário e CTCs traz novas perspectivas para avaliar a dinâmica das CTCs no compartimento sanguíneo, abrindo novos caminhos para o estudo da biologia e comportamento do TD. Este é o primeiro estudo a demonstrar a expressão da proteína LGR5 em CTCs de pacientes com diferentes tipos de sarcomas, o que pode abrir novas oportunidades para futuras investigações. O próximo passo é caracterizar CTCs em uma coorte maior de pacientes para entender melhor o papel do LGR5 e das demais proteínas no processo de metástases tumorais em sarcomas. Além disso, esses resultados abrem a possibilidade de usar CTCs para prever a dinâmica do TD no momento da progressão da doença e tratamento. Mais estudos com tamanhos de amostra maiores são necessários para validar nossos achados tanto em TD como em sarcomas

Introduction: Desmoid tumor (DT) is a rare neoplasm with high rates of local recurrence, composed of fibroblast cells that are characterized by the expression of key molecules, including the intermediate filament vimentin, cyclooxygenase-2 (COX-2) and ß-catenin. Circulating tumor cells (CTCs) isolated from the peripheral blood of patients with sarcomas and other neoplasms can be used as early biomarkers of tumor invasion and dissemination. The Epidermal Growth Factor Receptor (EGFR) family can also influence the process of CTC invasion, metastasis formation and recolonization of their tumors of origin through a process of "tumor selfseeding". Objective: Our objective was to identify CTCs in the peripheral blood of patients with TD or sarcomas and to evaluate the expression of ßcatenin proteins, transforming growth factor receptor beta I (TGF-ßRI), COX-2 (cyclooxygenase-2), vimentin, GLUT-1 (Glucose transporter 1), LGR5 (Gprotein coupled receptor 5) and EGFR and their relation with progression free (PFS) and overall suvival (OS). Methods: We performed a prospective study of patients with initial diagnosis or relapsed TD with measurable disease. For sarcomas, we used samples collected prospectively and retrospectively. Blood samples from each patient were processed and filtered by ISET® (Rarecells, France) for isolation and quantification of CTCs. Protein expression was analyzed by immunocytochemistry (ICC). For the molecular analysis of CTCs from patients with TD, the digital PCR method was standardized. Results: Eighteen TD patients were included, all with detectable CTCs, with levels ranging from 0.5­13 CTCs/mL. We found a concordance ofß-catenin expression in CTCs and primary tumors of 42.8% (6/14) of cases using ICC and immunohistochemistry, respectively. In our previous digital PCR tests, we found mutated copies of S45Pro in 4 patients (40%) and of S45Phe in only one patient (10%). In contrast, no Th41Ala mutations were found. In the sarcoma samples, we analyzed 30 samples and found CTCs in 93% of the patients and the levels ranged from 0-11.25 CTCs/mL. We also observed that the OS of EGFR positive patients (p=0.027) were lower than the survival of negative patients for the same proteins. Conclusions: Our study identified a high prevalence of CTCs in patients with TD and sarcomas. The agreement of ß-catenin expression between primary tumor and CTCs brings new perspectives to evaluate the dynamics of CTCs in the blood compartment, opening newavenues for the study of the biology and behavior of TD. This is the first study to demonstrate the expression of LGR5 protein in CTCs from patients with different types of sarcomas, which may open new opportunities for future investigations. The next step is to characterize CTCs in a larger cohort of patients to better understand the role of LGR5 and other proteins in the process of tumor metastases in sarcomas. Furthermore, these results open up the possibility of using CTCs to predict the dynamics of TD at the time of disease progression and treatment. More studies with larger sample sizes areneeded to validate our findings in both TD and sarcomas

Progesterone and estrogen receptor expression by canine cutaneous soft tissue sarcomas / Expressão de receptores para progesterona e estrógeno em sarcomas de tecidos moles cutâneos em cães

Canine soft tissue sarcomas (STS) comprise a heterogeneous group of malignancies that share similar histopathological features, a low to moderate recurrence rate and low metastatic potential. In human medicine, the expression of estrogen receptors (ER) and progesterone receptors (PR) in sarcomas has been studied to search for prognostic factors and new treatment targets. Similar studies have yet to be conducted in veterinary medicine. The objective of this study was therefore to investigate by immunohistochemistry (IHC) the ER and PR expression in a series of 80 cutaneous and subcutaneous sarcomas in dogs with histopathological features of peripheral nerve sheath tumor (PNST) and perivascular wall tumor (PWT). All cases were positive for PR and negative for ER. Tumors of high malignancy grade (grade III) exhibited higher PR expression than low-grade tumors (grade I). Tumors with mitotic activity greater than 9 mitotic figures/10 high power fields also exhibited higher PR expression. In addition, there was a positive correlation between cell proliferation (Ki67) and PR expression. Therefore, it is possible that progesterone plays a greater role than estrogen in the pathogenesis of these tumors. Future studies should explore the potential for selective progesterone receptor modulators as therapeutic agents in canine STS, as well as evaluating PR expression as a predictor of prognosis.(AU)

Sarcomas de tecidos moles (STM) caninos compreendem um grupo heterogêneo de neoplasias malignas, que apresentam alterações histopatológicas similares, baixa a moderada taxa de recorrência e baixo potencial metastático. Em medicina humana, a expressão de receptor para estrógeno (RE) e receptor para progesterona (RP) nos sarcomas tem sido estudada, visando a busca por fatores prognósticos e novos alvos para tratamentos. Na medicina veterinária, ainda não foram realizados estudos similares. O objetivo deste trabalho foi investigar por imuno-histoquímica a expressão de RE e RP em uma série de 80 sarcomas cutâneos e subcutâneos de cães, com características histopatológicas de tumor de bainha de nervo periférico e tumor de parede perivascular. Todos os casos foram positivos para RP e negativos para RE. Tumores de alto grau de malignidade (grau III) exibiram maior expressão deste receptor que os tumores de baixo grau (grau I). Tumores com atividade mitótica maior que 9 figuras mitóticas/10 campos de grande aumento também exibiram maior expressão do RP. Em adição, houve correlação positiva entre o índice de proliferação celular (Ki67) e a expressão de RP. Assim, é possível que a progesterona desempenhe maior papel que o estrógeno na patogênese desses tumores. Futuros trabalhos poderão explorar o potencial dos moduladores seletivos de RP como agente terapêutico em STM caninos, bem como avaliar a expressão de RP como preditiva de prognóstico.(AU)

Sarcomas de partes blandas en pacientes menores de 2 años. Serie de casos / Soft tissue sarcomas in infants. Case series

Los sarcomas de partes blandas en menores de 2 años son infrecuentes. Durante 2007-2017, 445 pacientes con sarcomas de partes blandas fueron tratados en nuestra Institución; 6 (el 0,5 %) eran menores de 2 años. Se analizaron los resultados clínicos y oncológicos en este grupo. La edad media de diagnóstico fue 15 meses. Cuatro eran varones y 2, mujeres. El seguimiento promedio fue 29 meses. El fibrosarcoma (n = 4) fue la variedad más frecuente. Cinco fueron tratados con cirugía de conservación del miembro; al restante se le realizó amputación. Todos realizaron tratamiento adyuvante con quimioterapia. La supervivencia a 24 meses fue del 100 %. Dos pacientes presentaron recidiva local; ambos casos, antes de los 24 meses.El tratamiento quirúrgico asociado a la quimioterapia impresiona ser la mejor opción terapéutica. La proporción de recurrencia local es alta para este grupo de pacientes luego de la cirugía de conservación del miembro.

Soft tissue sarcomas in children under 2 years of age are infrequent. During 2007-2017, a total of 445 patients diagnosed with soft tissue sarcomas were treated at our institution, 6 (0.5 %) were under 2 years. We analysed clinical and oncologic outcomes in this select group. The mean age of diagnosis was 15 months. Four patients were male and 2 female. The mean follow-up time was 29 months. Fibrosarcoma (n = 4) was the most frequent diagnosis. Five patients were treated with limb salvage surgery, and the remaining one had to undergo amputation. All patients received adjuvant treatment with chemotherapy. The 24-month survival rate was 100 %. Two patients presented a local recurrence before 24-months follow-up. Surgical treatment associated with chemotherapy seems to be the best therapeutic option. Local recurrence rate after limb salvage surgery is high for this group of patients

Resultados del tratamiento quirúrgico de sarcomas de partes blandas en adultos / Outcomes of surgical treatment of soft-tissue sarcomas in adults

Antecedentes: los sarcomas de partes blandas son raros tumores mesenquimáticos con varios tipos histológicos y diferentes comportamientos clínicos. Objetivo: describir las características clínicas y patológicas, así como los resultados del tratamiento quirúrgico de una serie de pacientes operados por sarcomas de partes blandas. Material y métodos: se realizó una revisión retrospectiva de las historias clínicas de 2403 pacientes operados entre octubre de 2014 y abril de 2018. Veintidós de ellos (0,91%) presentaron sarcomas de partes blandas. Resultados: el promedio de edad fue 52 años (rango 19-92), 13 (59%) eran mujeres. La localización de los tumores fue: miembro inferior en 12 casos, cabeza y cuello en 5, tronco en 3 y miembro superior en 2. Catorce casos (63,6%) fueron tumores de alto grado. Los tipos patológicos fueron: sarcoma pleomórfico 7 (32%), sarcoma sinovial 4 (18%), liposarcoma 3 (14%), otros 4 (36 %). Todos fueron extirpados en forma completa y en 5 casos (35,7%) requirieron amputación: 4 de miembro inferior y uno superior. Según el tamaño y la ubicación del tumor se emplearon diferentes procedimientos reconstructivos, incluyendo 3 colgajos libres. Aquellos pacientes con lesiones de alto grado o con márgenes histológicamente positivos recibieron radioterapia posoperatoria. Durante el seguimiento (promedio 16 meses), seis pacientes presentaron recidivas locales, cuatro con metástasis pulmonares sincrónicas, todos ellos con tumores de alto grado. La sobrevida global fue del 86,4%. Conclusión: los sarcomas de partes blandas son neoplasias infrecuentes e invasivas, ampliamente distribuidas, que requieren procedimientos quirúrgicos agresivos. Es necesario tratamiento adyuvante en casos seleccionados y seguimiento periódico debido a la alta tasa de recidiva y metástasis a distancia.

Background: Soft-tissue sarcomas (STS) are rare mesenchymal tumors with several histologic subtypes and different clinical patterns. Objective: The aim of this study was to describe the clinical and pathological characteristics and surgical outcomes of a series of patients with STS. Material and methods: The clinical records of 2403 undergoing surgery between October 2014 and April 2018 were retrospectively reviewed. Twenty-two patients (0.91%) presented STS. Results: Mean age was 52 years (range: 19-92) and 13 (59%) were women. The tumors were located in the lower extremities in 12 cases, head and neck in five, trunk in three and upper extremities in two. Fourteen cases (63.6%) were high-grade tumors. Pleomorphic sarcoma was the most common histologic type (32%) followed by synovial sarcoma (18%), liposarcoma (14%), and other types (36%). All the tumors were completely resected and five patients (35.7%) required amputation, four in the lower extremity and on in the upper extremity. Different reconstructive procedures were performed according to tumor size and location, including three free flaps. Those patients with high-grade sarcomas or with positive margins received postoperative radiotherapy. After a mean follow-up of 16 months, six patients presented local recurrences and four patients had synchronous metastatic disease in the lungs; all these patients had high-grade tumors. Overall survival was 86.4%. Conclusion: STS are rare and invasive neoplasms, widely distributed, requiring aggressive and occasionally complex surgical procedures. It is necessary to consider adjuvant treatments in selected cases and to maintain regular follow-up due to the high rate of recurrences and distant metastases.

Long-term results of extremity soft tissue sarcomas limb-sparing surgery and radiotherapy / Resultados de longo prazo de sarcomas de extremidade: cirurgia e radioterapia com espuma

ABSTRACT Objective: To assess the prognostic factors and results of limb sparing surgery and postoperative radiotherapy (PORT) in patients with non-metastatic soft tissue sarcomas (STS) of the extremities. Methods: Between 1980-2007, 114 extremity-located STS treated with PORT were analyzed retrospectively. Tumors were mostly localized in the lower extremities (71,9%). The median radiotherapy (RT) dose was 60.9 Gy. Chemotherapy was administered to 37.7% of the patients. Tumor sizes were between 3-26 cm (median 7 cm). The three most frequent histological types included undifferentiated pleomorphic sarcoma (26.3%), liposarcoma (25.4%), and synovial sarcoma (13.2%). The median follow-up for all patients was 60 months, and 81 months for survivors. Results: The 5- and 10-year local control (LC) rates were 77% and 70.4%, respectively; actuarial survival rates for 5 and 10 years were 71.8% and 69.1%, respectively. Increasing the dose above 60 Gy for all patients and the patients with positive margins demonstrated a clear benefit on 5-year LC (p=0.03 and p=0.04, respectively). Based on multivariate analysis, the addition of chemotherapy and RT dose were independent prognostic factors for LC. A recurrent presentation significantly affects the disease-free survival. Conclusions: PORT for STS of the extremities provides good long-term disease control with acceptable toxicity in a multidisciplinary approach. Level of evidence III, Retrospective study.

RESUMO Objetivo: Avaliar os fatores prognósticos e os resultados da cirurgia poupadora de membro e radioterapia pós-operatória em pacientes com sarcomas de partes moles das extremidades. Métodos: Entre 1980 e 2007, 114 sarcomas de partes moles localizados em extremidades tratados com cirurgia poupadora de membro e radioterapia pós-operatória foram analisados restrospectivamente. Os tumores localizavam-se principalmente na região mais baixa (71,9%). A dose média da radioterapia foi de 60,9 Gy. A quimioterapia foi usada em 37,7% dos pacientes. Os tamanhos do tumores estiveram entre 3 e 26 cm (mediana de 7 cm). Os três tipos histológicos mais frequentes foram, respectivamente, sarcoma pleomórfico indiferenciado (26,3%), lipossarcoma (25,4%) e sarcoma sinovial (13,2%). O tempo médio de acompanhamento para todos os pacientes foi de 60 meses e 81 meses para sobrevivente. Resultados: As taxas de controle local para 5 e 10 anos foram de 77% e 70,4%, respectivamente, e as taxas de sobrevida foram de 71,8% e 69,1%. Aumentar a dose acima de 60 Gy para todos os pacientes e para aqueles com margens positivas demonstrou claro benefício no controle local de 5 anos (p = 0,03 e p = 0,04, respectivamente). Considerando a análise multivariada, a adição de quimioterapia e a dose de radioterapia foram fatores prognósticos independentes para controle local. Apresentação recorrente afetou significativamente a sobrevida livre da doença. Conclusões: A cirurgia poupadora de membro e radioterapia pós-operatória para sarcomas de partes moles das extremidades fornece bom controle da doença a longo prazo, com toxicidade aceitável na abordagem multidisciplinar. Nível de evidência III, Estudo retrospectivo.

Current Concepts in Non-Gastrointestinal Stromal Tumor Soft Tissue Sarcomas: A Primer for Radiologists

Non-gastrointestinal stromal tumor (GIST) soft tissue sarcomas (STSs) are a heterogeneous group of neoplasms whose classification and management continues to evolve with better understanding of their biologic behavior. The 2013 World Health Organization (WHO) has revised their classification based on new immunohistochemical and cytogenetic data. In this article, we will provide a brief overview of the revised WHO classification of soft tissue tumors, discuss in detail the radiology and management of the two most common adult non-GIST STS, namely liposarcoma and leiomyosarcoma, and review some of the emerging histology-driven targeted therapies in non-GIST STS, focusing on the role of the radiologist.

Sarcomas de partes blandas en pacientes pediátricos: análisis de una serie de casos del subtipo no rabdomiosarcoma / Pediatric soft tissue sarcomas: analysis of non rhabdomyosarcoma group

Se evaluó una serie de 29 pacientes con diagnóstico de sarcomas de partes blandas variante no rabdomiosarcomas tratados quirúrgicamente entre2000 y 2010, y se analizó la supervivencia global y los factores que influyen en el pronóstico. La edad media fue de 11,6 años (rango de 3 meses-17 años); 16 pacientes eran de sexo masculino y el tiempo promedio de seguimiento fue de 56 meses (de 8 a 132 meses). Se documentaron 8 variedades histológicas diferentes de tumores malignos, y el sarcoma sinovial resultó ser el más frecuente (14 pacientes). La cirugía de conservación de miembro fue posible en 28 pacientes y se asoció tratamiento adyuvante en 26. La supervivencia global de la serie estudiada fue de 72% a los 5 años y, en 9 pacientes, se diagnosticó una recurrencia local. La presencia de metástasis (p < 0,0001) y la recurrencia local (p < 0,007) resultaron ser factores de pronóstico negativo para la supervivencia global.

We evaluated 29 patients with non rhabdomyosarcoma soft tissue sarcomas treated with surgery between 2000 and 2010; we analyzed overall survival and which factors affect the prognosis. The mean age was 11.6 years (range 3 months-17 years); 16 patients were males and the median follow-up was 56 months (8 to 132 months). Eight different histological malignant tumors were identified, being synovial sarcoma the most prevalent one (14 patients). Twenty-eight patients were treated with limb salvage surgery and in 26 cases, adjuvant therapy was used. Five years overall survival was 72%. Nine of the 29 patients presented a local recurrence. The presence of metastases (p <0.0001) and local recurrence (p <0.007) were negative prognostic factors for overall survival.

Dumb-bell shaped poorly differentiated pelvic synovial sarcoma with molecular confirmation: A rare presentation of an uncommon disease entity.

Pelvic localization of synovial sarcoma is a rare phenomenon and to the best of our knowledge its presentation as a large "dumb-bell"-shaped abdomino-pelvic mass showing extension to the thigh has never been reported in the literature. We report a case of a young adult presenting with retention of urine and was found to have a large abdomino-pelvic mass causing bony destruction and compression of pelvic viscera. A biopsy revealed a cellular tumor composed of spindle to oval cells arranged in a hemangiopericytomatous pattern. Histopathology was suggestive of poorly differentiated synovial sarcoma. Immunohistochemistry (IHC) was positive for vimentin, CD 99, Bcl2, Mic2 and focally for EMA and negative for CD 34, CK, desmin, synaptophysin, and WT1. Due to equivocal IHC findings molecular analysis was done which confirmed the diagnosis as synovial sarcoma.

Caracterización de pacientes con sarcomas de partes blandas. Estudio de 12 años / Characterization of patients with soft tissue sarcomas. A study of 12 years

Se realizó un estudio longitudinal, descriptivo y transversal de 89 pacientes con sarcomas de partes blandas, atendidos en el Hospital Oncológico Provincial Docente "Conrado Benítez García" de Santiago de Cuba, desde enero del 2000 hasta diciembre del 2011, luego de ser remitidos fundamentalmente de otros centros asistenciales (donde fueron diagnosticados y operados), para ser valorados y tratados por un equipo multidisciplinario, con vistas a caracterizarles y así aplicar diferentes modalidades diagnósticas y terapéuticas en ellos. En la casuística se obtuvo una mayor frecuencia de la enfermedad en edades menores, así como del fibrosarcoma y el histiocitoma fibroso como variedades hísticas, y de la localización en los miembros inferiores. Se destacó que el diagnóstico temprano es determinante, al igual que el tratamiento de elección consistente en la resección no mutilante, combinada con el tratamiento adyuvante o no. La mayoría de los pacientes fueron reintervenidos y se diagnosticaron en etapa II de la afección, lo que empeoró el pronóstico y además indicó la existencia de procedimientos incompletos en el proceso terapéutico, que conspiran a dañar la sobrevida de los pacientes.

A longitudinal, descriptive and cross-sectional study was conducted in 89 patients with soft tissue sarcomas, attended in "Conrado Benítez García" Provincial Teaching Oncology Hospital of Santiago de Cuba, from January 2000 to December 2011, after being referred primarily from other care centers (where they were diagnosed with and operated), to be assessed and treated by a multidisciplinary team, with the purpose of characterizing them and thus applying different diagnostic and therapeutic modalities in them. A higher frequency of the disease at younger ages, of fibrosarcoma and fibrous histiocytoma as tissular varieties, and location in the lower limbs was found in the case material. It was stressed that early diagnosis is crucial, as well as the treatment of choice consisting in non-mutilating resection combined with adjuvant treatment or not. Most patients were reoperated and diagnosed in stage II of the disease, worsening the prognosis and indicating the existence of incomplete procedures in the therapeutic process that conspire to harm the survival of patients.

Adult soft-tissue sarcomas of the head and neck.

Background: Head and neck sarcomas are relatively rare tumors, accounting for only about 2% of all head and neck malignancies and for 4 to 10% of all soft tissue sarcomas. The rarity and more over the heterogeneity of these tumors make rigorous study of their clinical behavior difficult. Aims: We analyzed our single center experience of adult soft tissue sarcomas of the head and neck. Settings and Design: Our study included 27 patients of adult soft-tissue sarcomas of the head and neck who presented to our center between January 1996 and December 2005. Materials and Methods: Patient characteristics, clinical features, treatment modalities, clinical course, and long-term outcomes and its determinants were analyzed. Results: Surgery in the form of wide excision aimed at achieving negative margins was the main modality of treatment and adjuvant radiation was used in selected patients. The five-year disease-free survival was 64.5% and overall survival (OS) was 68%. Of the multiple potential factors analyzed, univariate analysis showed grade, margin status, and adjuvant radiation to be the important prognostic factors for the survival. The multivariate analysis however only showed margin status and adjuvant radiation to be prognostic. Conclusions: Surgery with negative margins is a key to long-term survival. Complete resection with adjuvant radiation in selected cases potentially decreases local recurrences and improves OS.

Malignant peripheral nerve sheath tumors: Clinicopathological profile of 63 cases diagnosed at a tertiary cancer referral center in Mumbai, India.

Background: A malignant peripheral nerve sheath tumor (MPNST) is a rare sarcoma, characterized by an aggressive course and forms a diagnostic challenge, in view of its varied histomorphology. The present study is a comprehensive analysis, including histopathological spectrum of 63 MPNSTs that forms a substantial study from an Indian perspective. Materials and Methods: Clinicopathological features of 63 MPNSTs, diagnosed during a period from January 2002 to December 2006, at a tertiary cancer referral center in Mumbai, India, were analyzed. Statistical analysis was carried out using SPSS (version 14) and STRATA. Difference in events was noted in 50 cases with selected variables. Disease free survival (DFS) was calculated by Kaplan-Meir analysis at the end of 1 year. Results: More cases were identified in > 30 years age (36 cases, 57.14%) group; in men (46 cases, 73%), and were deep-seated (38, 60.3%). Ten cases (15.9%) showed stigmata of multiple neurofibromatosis type 1. Average tumor (T) size was 9.9 cm, with 72.9% cases having T size > 5 cm. More cases were of high grade (56, 88.8%) and high stage (22, 34.9%). Histopathologically, most cases showed hypo- and hypercellular areas (marbleized appearance) of doubly indented spindle cells. Two cases showed epithelioid differentiation. Heterologous elements in the form of osteoid, chondroid, pigmented neuroectodermal (1 case), glandular (1 case) and rhabdomyoblastic differentiation (1 case) were identified in 14 cases (22.2%). S-100 protein positivity was noted in 38/54 cases (70.3%). Maximum cases (45, 71.4%) underwent surgery, including wide excisions and amputations (R0) in 20 cases, marginal excisions (R1) in 4, and intracapsular excision (R2) in 1 case. Nineteen cases underwent adjuvant treatment. A total of 29 cases (46%) showed recurrences and 22 (34.9%) showed multifocality and/or metastasis. Four patients succumbed to the disease in 1 year. The DFS was 53.1%. Cases ≤30 years of age (P- value = 0.007), T size > 5 cm, and with high grade (P = 0.18) and stage (P = 0.00) showed more recurrences, metastasis, and death. Conclusions: A MPNST has multifaceted histomorphology. Its objective identification necessitates the incorporation of clinicopathological features and IHC with S-100 protein. Younger age, high grade and stage, and increased T size significantly relate to aggressive disease. Wide excision forms the optimal treatment with options of adjuvant CT/RT in individual cases.

Pulmonary metastasectomy from soft tissue sarcomas

INTRODUCTION: Isolated pulmonary metastases from soft tissue sarcomas occur in 20-50 percent of these(the issue is about metastases, not lung cancer )patients, and 70 percent of these patients will present disease limited only to the lungs. Surgical resection is well accepted as a standard approach to treat metastases from soft tissue sarcomas isolated in the lungs, and many studies investigating this technique have reported an overall 5-year survival ranging from 30-40 percent. The most consistent predictor of survival in these patients is complete resection. The aim of the present study was to determine the demographics and clinical treatment-related variables associated with long-term (90-month) overall survival in patients with lung metastases undergoing pulmonary metastasectomy from soft tissue sarcomas. METHODS: We performed a retrospective review of patients admitted in the Thoracic Surgery Department with lung metastases who underwent thoracotomy for resection following treatment of the primary tumor. Data regarding primary tumor features, demographics, treatment, and outcome were collected. RESULTS: One hundred twenty-two thoracotomies and 273 nodules were resected from 77 patients with previously treated soft tissue sarcomas. The median follow-up time of all patients was 36.7 months (range: 10-138 months). The postoperative complication rate was 9.1 percent, and the 30-day mortality rate was 0 percent. The 90-month overall survival rate for all patients was 34.7 percent. Multivariate analysis identified the following independent prognostic factors for overall survival: the number of metastases resected, the disease-free interval, and the number of complete resections. CONCLUSION: These results confirm that lung metastasectomy is a safe and potentially curative procedure for patients with treated primary tumors. A select group of patients can achieve long-term survival after lung resection.