Mixolipoma en cavidad bucal: reporte de caso / Myxolipoma in the oral cavity: case report

Introducción: El lipoma es una neoplasia benigna común en tejidos blandos, pero poco frecuente en cavidad bucal. El mixolipoma es un subtipo histológico raro, caracterizado por adipocitos maduros y abundantes sustancias mucoides. Suele presentarse como nódulos submucosos blandos, móviles, recubiertos por mucosa intacta, crecimiento lento y asintomáticos hasta que crecen causando incomodidad. Reporte de caso: Hombre de 74 años habitante de la calle que presentó en fondo de surco en mucosa labial inferior lesión nodular de 2 cm de diámetro, que se desarrolló durante dos años, causando molestias al comer y fue eliminada quirúrgicamente. El estudio histopatológico mostró tejido adiposo maduro y zonas de aspecto mixoide, sin evidencia de atipia, red vascular plexiforme o lipoblastos, en la inmunohistoquímica los adipocitos maduros exhibieron marcada positividad para la proteína S-100 y negatividad para CD34, las células endoteliales mostraron positividad para CD34, confirmando el diagnóstico de mixolipoma. Conclusión: Es esencial que los proveedores de atención médica estén familiarizados con las manifestaciones clínicas del mixolipoma e incluirlo en los posibles diagnósticos ante la presencia de nódulos en la cavidad oral. Asimismo, no se debe subestimar la importancia de educar y concienciar sobre la salud bucal de los habitantes de la calle.

Introduction: Lipoma is a common benign neoplasm in soft tissues, but rare in the oral cavity. Myxolipoma is a rare histological subtype, characterized by mature adipocytes and abundant mucoid substances. It usually presents as soft, mobile submucosal nodules, covered by intact mucosa, slow growing and asymptomatic until they grow causing discomfort. Case report: This is the case of a 74-year-old street dweller who presented with a nodular lesion, 2 cm in diameter, at the bottom of the groove in the lower labial mucosa. The lesion developed over two years and caused discomfort when eating. It was surgically removed. The histopathological study showed mature adipose tissue and areas with a myxoid appearance, without evidence of atypia, plexiform vascular network or lipoblasts, in immunohistochemistry the mature adipocytes exhibited marked positivity for the S-100 protein and negativity for CD34, the endothelial cells showed positivity for CD34, confirming the diagnosis of myxolipoma. Conclusion: It is essential that healthcare providers are familiar with the clinical manifestations of myxolipoma and include it in the possible diagnoses in the presence of nodules in the oral cavity. Likewise, the importance of educating and raising awareness about the oral health of street dwellers should not be underestimated.

Carcinoma escamoso variedad sarcomatoide de lengua. Reporte de caso / Sarcomatoid variant squamous cell carcinoma of the tongue. Case report

Introducción. El carcinoma de células escamosas es una patología relativamente frecuente en Paraguay, que debe ser diagnosticada y tratada a tiempo. La variedad sarcomatoide es un subtipo poco frecuente, pero mucho más agresivo que la presentación convencional, con altas tasas de recurrencia y metástasis linfática. La exposición previa a radiación es uno de los principales factores desencadenantes. Caso clínico. Paciente de 83 años con antecedente de radioterapia por carcinoma escamocelular del paladar blando, quien consultó por una masa en el borde lateral de la lengua que correspondió a un carcinoma escamocelular del subtipo sarcomatoide. Resultados. El paciente fue sometido a cirugía y quimioterapia, pero presentó recaída tumoral a los cuatro meses, sin aceptar una cirugía de rescate, optando por el tratamiento paliativo y falleciendo a los pocos meses. Conclusión. El examen exhaustivo de la cavidad oral en una primera consulta permite identificar lesiones en estadios tempranos y el tratamiento multidisciplinario temprano puede mejorar la supervivencia global. El pronóstico de estos pacientes en estadios avanzados es desalentador. Actualmente la cirugía microvascular es la mejor opción terapéutica, pero la hemiglosectomía sin reconstrucción sigue siendo una opción aceptable en nuestro medio, conociendo los altos costos de la primera y el requerimiento de un grupo mayor de especialistas, largos tiempos quirúrgicos y estancias hospitalarias.

Introduction. Squamous cell carcinoma is a relatively common pathology in Paraguay, which must be diagnosed and treated on time. The sarcomatoid variety is a rare subtype, but much more aggressive than the conventional presentation, with high rates of recurrence and lymphatic metastasis. Previous exposure to radiation is one of the main triggering factors. Clinical case. An 83-year-old patient with a history of radiotherapy for squamous cell carcinoma of the soft palate, who consulted for a mass on the lateral edge of the tongue that corresponded to a squamous cell carcinoma of the sarcomatoid subtype. Results. The patient underwent surgery and chemotherapy, but had tumor relapse after four months, without accepting salvage surgery, opting for palliative treatment and dying a few months later. Conclusion. Exhaustive examination of the oral cavity in a first consultation allows lesions to be identified in early stages and early multidisciplinary treatment can improve overall survival. The prognosis of these patients in advanced stages is discouraging. Currently, microvascular surgery is the best therapeutic option, but hemiglossectomy without reconstruction continues to be an acceptable option in our environment, knowing the high costs of the former and the requirement for a larger group of specialists, long surgical times and hospital stays.

Case report: Comprehensive follow-up of a Colombian family carrying a novel MEN1 variant linked to a rare ACTH-producing pancreatic neuroendocrine carcinoma.

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by pathogenic variants in the MEN1 tumor suppressor gene, leading to tumors in the parathyroid glands, pancreas, and pituitary. The occurrence of ACTH-producing pancreatic neuroendocrine carcinoma is exceedingly rare in MEN1. Case presentation: This report details a Colombian family harboring a novel MEN1 variant identified through genetic screening initiated by the index case. Affected family members exhibited primary hyperparathyroidism (PHPT) symptoms from their 20s to 50s. Uniquely, the index case developed an ACTH-secreting pancreatic neuroendocrine carcinoma, a rarity in MEN1 syndromes. Proactive screening enabled the early detection of pituitary neuroendocrine tumors (PitNETs) as microadenomas in two carriers, with subsequent surgical or pharmacological intervention based on the clinical presentation. Conclusion: Our findings underscore the significance of cascade screening in facilitating the early diagnosis and individualized treatment of MEN1, contributing to better patient outcomes. Additionally, this study brings to light a novel presentation of ACTH-producing pancreatic neuroendocrine carcinoma within the MEN1 spectrum, expanding our understanding of the disease's manifestations.

Histopathological risk assessment in multisite epithelial dysplasia: A meta-analysis.

OBJECTIVE: Histopathological grading of oral epithelial dysplasia (OED) is the current standard for stratifying cancer progression risk but is associated with subjectivity and variability. This problem is not commonly seen regarding the grading of epithelial dysplasia in other sites. This systematic review aims to compare grading systems for oral, anal, penile, and cervical epithelial dysplasia to determine their predictive accuracy for recurrence and malignant transformation (MT) outcomes. METHODS: The review protocol was registered in PROSPERO (CRD42023403035) and was reported according to the PRISMA checklist. A comprehensive search was performed in the main databases and gray literature. The risk of bias in individual studies was analyzed using the Joanna Briggs Institute checklist for each study design. RESULTS: Forty-six studies were deemed eligible and included in this systematic review, of which 45 were included in the quantitative analysis. Meta-analysis revealed that the binary system demonstrated a higher predictive ability for MT/recurrence of OED compared to multilevel systems. Higher predictive accuracy of MT was also observed for binary grading systems in anal intraepithelial neoplasia. CONCLUSIONS: No significant difference was found between the current grading systems of epithelial dysplasia in different body parts. However, binary grading systems have shown better clinical outcomes.

Presumed myxosarcoma in the eyelid of a cat: Case report.

OBJECTIVE: To describe the clinical and pathological characteristics of a neoformation suggestive of myxosarcoma in a cat's eyelid. ANIMAL STUDIED: An 11-year-old mixed-breed castrated female cat presented with a nodule on the lower eyelid approximately 1.6 cm in diameter, multilobulated, non-ulcerated, soft, and adhered to both the skin and conjunctiva of the lower eyelid. PROCEDURES: The incisional biopsy revealed findings suggestive of a peripheral nerve sheath tumor. After performing an exenteration of the right eyeball to ensure a safe surgical margin, the tissue samples were sent for histopathological analysis and later for immunohistochemistry. RESULTS: Microscopic evaluation classified the mass as a grade-I mesenchymal neoplasm, suggesting myxosarcoma and malignant peripheral nerve sheath tumor as differential diagnoses. An immunohistochemical examination was carried out to differentiate the neoplasm. Once tumors of neural origin were excluded, the diagnosis of myxosarcoma was indicated as the most likely. CONCLUSION: We report a presumed case of eyelid myxosarcoma in a cat, highlighting its relevance in the differential diagnosis in the evaluation of eyelid and conjunctival neoplasms in cats.

Prevalence of anal high-risk human papillomavirus (HR-HPV) types in people living with HIV and a history of cancer.

This study aimed to describe the prevalence of high-risk human papillomavirus (HR-HPV) types in the anal canal in a cohort of people living with HIV (PLWHIV) with a history of malignancy. SETTING: Referral tertiary care hospital for adult patients with cancer. METHODS: We reviewed data of patients from the AIDS Cancer Clinic on antiretroviral therapy in chronic control who were consecutively referred for high-resolution anoscopy (HRA), where they underwent anal evaluation, collection of specimens for anal cytology and anal human papillomavirus (HPV) followed by HRA with directed biopsy if needed. RESULTS: A total of 155 patients were included; 149 (96.1%) were men, all of them men who have sex with men (MSM); the median age was 39 (IQR 32-47) years; 105 (67.7%) with Kaposi sarcoma, 40 (25.8%) with non-Hodgkin lymphoma and 10 (6.4%) with other neoplasms; only 7 (4.5%) had active cancer. The prevalence of HR-HPV infection was 89% (n=138) (95% CI 83-93) with at least one HR-HPV infection, and 62% (96) had coinfection with at least two types; the median HR-HPV types of coinfection were 3 (IQR 2-4). The number of patients infected with HPV 16 was 64 (41.3%, 95% CI 33.8-49.3), HPV 18 was 74 (47.7%, 95% CI 39.9-55.7) and with both 35 (22.6%). Some 59 patients (38%) had high-grade squamous intraepithelial lesions (HSIL) and 49 (31.6%) had low-grade squamous intraepithelial lesions (LSIL). The prevalence of HR-HPV and HSIL among patients aged ≤35 and >35 years was the same. CONCLUSIONS: In this cohort of PLWHIV with a history of malignancy we found a high prevalence of HR-HPV 16 and 18 and anal HSIL, even in persons aged ≤35 years. These data highlight the importance of anal cancer screening in PLWHIV and history of malignancy.

Age-adjusted Charlson comorbidity index and its association with body composition and overall survival in patients with colorectal cancer.

OBJECTIVE: To examine the relationship between the age-adjusted Charlson comorbidity index (A-CCI) with body composition and overall survival in patients newly diagnosed with colorectal cancer (CRC). RESEARCH METHODS AND PROCEDURES: In this cohort study, patients (≥ 18 years old) with CRC were followed for 36 months. Computed tomography images of the third lumbar were analyzed to determine body composition, including skeletal muscle area (SMA), skeletal muscle index (SMI), skeletal muscle radiodensity (SMD), visceral adipose tissue (VAT), and subcutaneous adipose tissue (SAT). Phenotypes based on comorbidity burden assessed by A-CCI and body composition parameters were established. RESULTS: A total of 436 participants were included, 50% male, with a mean age of 61 ± 13.2 years. Approximately half of the patients (50.4%) had no comorbidity, and the A-CCI median score was 4 (interquartile range: 3-6). A higher A-CCI score was a risk factor for 36-month mortality (HR = 3.59, 95% CI = 2.17-5.95). Low SMA and low SMD were associated with a higher A-CCI. All abnormal phenotypes (high A-CCI and low SMA; high A-CCI and low SMD; high A-CCI and high VAT) were independently associated with higher 36-month mortality hazard (adjusted HR 5.12, 95% CI 2.73-9.57; adjusted HR 4.58, 95% CI 2.37-8.85; and adjusted HR 2.36, 95% CI 1.07-5.22, respectively). CONCLUSION: The coexistence of comorbidity burden and abnormal body composition phenotypes, such as alterations in muscle or fat compartments, may pose an additional risk of mortality in patients newly diagnosed with CRC. Early assessment and management of these phenotypes could be crucial in optimizing outcomes in such patients.

Metástasis hepática metacrónica de un tumor sólido pseudopapilar de páncreas / Metachronous liver metastasis from a solid pseudopapillary pancreas tumor

Presentación del caso. Se trata de una mujer de 32 años quien consultó por dolor abdominal en el epigastrio no asociado a las comidas, tenía el antecedente de una pancreatectomía distal con preservación de bazo debido a un tumor en la cola del páncreas, cinco años previos. En el examen físico no presentó ninguna anormalidad y durante su abordaje se realizaron estudios de imagen. Intervención terapéutica. La tomografía axial computarizada evidenció una lesión en el segmento lateral izquierdo del hígado con características sugestivas de metástasis debido a su antecedente quirúrgico. Los exámenes de laboratorio y marcadores tumorales se encontraron dentro de límites normales. Se evaluó en conferencia multidisciplinaria y se recomendó un abordaje quirúrgico. Se realizó una hepatectomía izquierda con una evolución posquirúrgica sin complicaciones. Evolución clínica. Luego de seis meses posoperatorios, se encontraba sin evidencia de enfermedad activa o residual

Case presentation. A 32-year-old woman consulted for abdominal pain in the epigastrium not associated with meals. She had a history of distal pancreatectomy with spleen preservation due to a tumor in the tail of the pancreas five years earlier. Physical examination showed no abnormalities and imaging studies were performed during his approach. Treatment. Computed axial tomography revealed a lesion in the left lateral segment of the liver with characteristics suggestive of metastasis due to his surgical history. Laboratory tests and tumor markers were within normal limits. It was evaluated in a multidisciplinary conference, and a surgical approach was recommended. A left hepatectomy was performed with an uncomplicated postoperative evolution. Outcome. Six months postoperatively, there was no evidence of active or residual disease

Phenotype and genotype of patients with multiple endocrine neoplasia type 1 studied in Argentina.

INTRODUCTION: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1. METHODS: A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation. RESULTS: Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were missense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers. CONCLUSION: The phenotype and genotype of Argentinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.

Introducción: La neoplasia endocrina múltiple tipo 1 (NEM1) es una enfermedad hereditaria autosómica dominante con una prevalencia estimada de 2-10:100 000. Las localizaciones principales de los tumores son glándulas paratiroides (HPT), tracto gastroenteropancreático (TGEP) y glándula pituitaria (TP). El objetivo de nuestra investigación fue describir el fenotipo y genotipo de pacientes argentinos con NEM1. Métodos: Estudiamos 68 casos índices diagnosticados por presentar al menos dos de los tres tumores principales, o un tumor y un pariente con NEM1, y 84 familiares de primer grado. Secuenciamos la región codificante (exones 2-10); el promotor, exón 1; y las regiones intrónicas flanqueantes del gen MEN1 siguiendo el método de Sanger. Utilizamos MLPA en pacientes índice sin mutación. Resultados: Prevalencia de tumores: HPT 87.5%, TGEP 49% (p < 0.001), sin diferencias estadísticas entre las prevalencias de HPT vs TP (68%). Prevalencia de variantes patogénicas: 90% en casos familiares y 51% en esporádicos. Hallamos 36 variantes patogénicas, 7 (20%) fueron noveles. Fueron 13 (36.2%) microarreglos con cambio en el marco de lectura, 9 (25%) variantes sin sentido, 8 (22.2%) con cambio de sentido, 3 (8.3%) en sitio de unión de empalme, 2 (5.5%) grandes deleciones y 1 microarreglo sin cambio en el marco de lectura. El 39 % (n = 33) de los parientes de primer grado en 23 familias fueron portadores de mutaciones. Conclusión: El fenotipo y genotipo de los pacientes argentinos con NEM1 fue similar al de otras poblaciones. Destacamos una alta frecuencia de TP y de variaciones patogénicas noveles.

A comprehensive review of current knowledge on penile squamous cell carcinoma.

Neoplasm of the penis is relatively rare in most regions representing 0-2% of cancers worldwide. While the penis can be affected by sarcomas, basal cell carcinomas or even melanoma, Penile Squamous Cell Carcinoma (PSCC) represents approximately 95% of all penile neoplasms. Despite its rarity and most common presentation at later decades of life most individuals diagnosed with PSCC are faced with significant decrease in quality of life. The prevalence and incidence vary among different regions and populations, but a common trend is for diagnosis to occur late (stage 4). Underdeveloped countries are traditionally reported to have higher incidence rates; however, rates may vary significantly between urban and rural areas even in developed countries. Age adjusted rates are on the rise in some countries that used to have incidence rates of 1:100 000 or less. The list of associated risk factors is long and includes among others, lack of neonatal circumcision, poor genital hygiene, socioeconomic status, history of human papillomavirus (HPV) infection and penile intraepithelial neoplasia (PeIN). Many risk factors are widely debated among experts however HPV and PeIN are indisputable risk factors, and both also form part of the classification system for PSCC. Both conditions may have occurred in the past or be present at the time of diagnosis and identifying them plays a major role in management strategies. For such a rare condition PSCC can present in many different forms clinically making diagnosis no easy feat. Diagnosis of PSCC is done through clinical examination, including lymph node palpation, followed by a biopsy, which is essential for the classification. Lymph node involvement is a common finding at first presentation and investigation of spread to deep nodes is important and can be done with the aid of PET-CT. Treatment options for PSCC include surgery, chemotherapy, and radiation therapy. Surgical removal of the tumor is considered the most effective however can lead to severe decrease of quality of life. Chemotherapy is used in the case of fixed or bulky lymph nodes, where surgery is not indicated, and for distant metastasis. Radiation therapy is particularly effective in the case of HPV-positive PSCC.

Immunohistochemical Expression of Human Epidermal Growth Factor Receptor 2 and Ki67 in Apocrine Gland Anal Sac Adenocarcinoma.

Apocrine gland anal sac adenocarcinoma is an aggressive neoplasm, and surgery remains the treatment of choice, although it is controversial in advanced cases. The prognostic factors are not well established. Human Epidermal Growth Factor Receptor 2 (HER2) is a membrane protein related to tumorigenesis, whereas Ki67 is a nuclear protein related to cell proliferation. Both are potential prognostic markers and therapeutic targets. This study aimed to evaluate the expression of HER2 and Ki67 markers in canine apocrine gland anal sac adenocarcinoma. The tumor samples were divided into four groups: largest tumor diameter less than 2.5 cm, largest tumor diameter greater than 2.5 cm, metastatic lymph nodes, and control group of non-neoplastic anal sacs. Each contained 10 samples. Immunohistochemistry was performed to verify the expression of HER2 and Ki67 markers. Positive HER2 staining was observed in 45% of the neoplastic cases and negative HER2 staining in 100% of the control group. The Ki67 expression had a median of 25% in all groups, except for the control group, which had a median of 8%. The HER2 and Ki67 expression was present in apocrine gland anal sac adenocarcinoma, making them potential therapeutic targets. However, it was not possible to determine the clinical value of either marker.

Urothelial carcinoma in a mule.

Equine bladder neoplasms are rare. This report aimed to describe the clinical signs and treatment of urothelial carcinoma (UC) in a mule. Cystoscopy of a 20-year-old female mule with a one-week history of hematuria and anemia revealed vascular congestion in the mucosa and an intraluminal, pedunculated mass in the dorsal bladder region. Histopathological examination revealed UC. Initial therapy consisted of four weekly cystoscopic guided injections of fluorouracil. At the fourth chemotherapy session, a paler and more friable tumor mass was observed. Consequently, we opted to surgically remove it during cystoscopy. Following mass excision, patient comfort, gross appearance of urine, and the hematocrit returned to normal. Repeat cystoscopy examinations revealed no gross appearance of tumor recurrence 18 months after treatment. Bladder neoplasms clinically resemble urolithiasis and cystitis and should be considered a differential diagnosis in cases of anemia and hematuria.

Right-sided ureteral hemangiosarcoma in a paraplegic dog.

BACKGROUND: This study aims to describe a rare case of primary ureteral hemangiosarcoma, in which surgical intervention preserved the kidney and ureter after tumor removal. CASE PRESENTATION: A 13-year-old, neutered male dog, weighing 14 kg, mixed-breed, presented with apathy, anorexia, acute-onset vomiting, and abdominal discomfort during the physical examination. Ultrasonography and pyelography revealed a right-sided dilation of the renal pelvis and ureter due to complete obstruction in the middle third of the ureter. A mass obstructing the lumen of the right ureter was completely resected, and ureteral suturing was performed, preserving the integrity of the involved structures. Histopathology confirmed primary ureteral hemangiosarcoma. Due to the local and non-invasive nature of the mass, chemotherapy was not initiated. The patient's survival was approximately two years, and normal renal function was preserved throughout this period. CONCLUSIONS: Considering this type of tumor in the differential diagnosis of upper urinary tract obstructive disorders. Furthermore, the preservation of the ureter and kidney is a suitable therapeutic option after surgical resection of non-invasive tumors.

Presentación inusual de coriocarcinoma metastásico a hígado y pulmón: un reporte de caso / Unusual presentation of metastatic choriocarcinoma to liver and lung: a case report

La enfermedad trofoblástica gestacional (ETG) es un trastorno proliferativo del trofoblasto. Incluye la mola hidatidiforme, el coriocarcinoma, la mola invasiva, el tumor trofoblástico del lecho placentario y el tumor trofoblástico epitelioide. Las últimas cuatro hacen parte de la neoplasia trofoblástica gestacional, que agrupa menos del 1% de todos los tumores ginecológicos. La incidencia de la ETG puede variar, siendo aproximadamente de 1 a 3 de cada 1.000 embarazos en América del Norte y Europa. El coriocarcinoma es la forma más agresiva por su rápida invasión vascular y compromiso metastásico. Sin embargo, es un tumor muy quimiosensible con una alta tasa de respuestas y posibilidad de curación superior al 90%. Se presenta el caso de una paciente de 40 años quien ingresó al servicio de urgencias por disnea súbita secundaria a tromboembolia pulmonar y posteriormente tras el inicio de anticoagulación presentó hemoperitoneo debido a lesiones hepáticas metastásicas de un coriocarcinoma, además de compromiso metastásico pulmonar. Se presenta este caso por ser una patología poco frecuente, agresiva y con presentaciones inusuales, con el fin de mostrar la importancia de un diagnóstico y tratamiento oportuno.

Gestational trophoblastic disease (GTD) is a condition in which the trophoblast, a layer of cells surrounding the embryo, develops abnormally. GTD includes both pre-malignant and malignant pathologies, such as hydatidiform mole, choriocarcinoma, invasive mole, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. Although GTD is rare, it affects about 1 to 3 out of every 1,000 pregnancies in North America and Europe. Choriocarcinoma is the most aggressive form of GTD, as it can quickly invade blood vessels and metastasize to other parts of the body. However, it is highly responsive to chemotherapy, with a cure rate of over 90%. In this case, a 40-year-old patient presented to the emergency department with sudden dyspnea due to pulmonary embolism. After starting anticoagulation therapy, she developed hemoperitoneum due to the spread of choriocarcinoma to her liver, as well as pulmonary metastases. This case is noteworthy because of its unusual presentation and aggressive nature, underscoring the importance of early diagnosis and treatment.

Tumor de células gigantes esternal: esternectomía total y reconstrucción con barras de titanio más malla de polipropileno / Sternal Giant Cell Tumor: Total Sternectomy and Reconstruction with Titanium Rods Plus Polypropylene Mesh

El tumor de células gigantes (TCG) constituye un tumor óseo benigno relativamente frecuente. Se caracteriza por ser localmente agresivo y el lugar de presentación más frecuente es a nivel del esqueleto axial (fémur distal o tibia proximal). Hasta la actualidad, existen escasos informes de presentaciones atípicas, como a nivel del esternón. En este informe, se presenta el caso de una paciente mujer de 24 años que presenta tumoración indurada a nivel de la región esternal de crecimiento progresivo asociado a dolor. Los hallazgos radiológicos revelan tumoración osteolítica que tiene como origen el cuerpo del esternón y lo compromete casi en su totalidad. Este se proyecta hacia las partes blandas y llega al plano superficial. Debido a la extensión de la enfermedad y al compromiso extenso en el cuerpo del esternón, se realiza la resección del cuerpo y manubrio esternal. El defecto es reconstruido con malla de polipropileno, barras de titanio, parche de epiplón y autoinjerto de piel; se obtiene una adecuada estabilidad de la caja torácica y resultados estéticos favorables. El caso tiene un adecuado manejo oncológico puesto que la resección es completa con márgenes microscópicos libres (resección R0).

Giant cell tumor (GCT) constitutes a relatively common benign bone tumor, characteri-zed by its local aggressiveness. The most frequent site of occurrence is in the axial ske-leton (distal femur or proximal tibia). To date, there have been few reports of atypical presentations, such as at the level of the sternum. In this report, we present the case of a 24-year-old female patient who presented with an indurated mass in the sternal region, progressively growing and associated with pain. Radiological findings revealed an osteolytic mass originating from the body of the sternum, involving almost its entire extent and projecting into the soft tissues, reaching the superficial plane. Due to the extent of the disease and the extensive involvement of the sternal body, resection of the body and manubrium of the sternum was performed. The surgical defect was reconstructed with polypropylene mesh, titanium bars, an omental patch and a skin graft, achieving adequate stability of the thoracic cage and favorable cosmetic results.

Barreras y facilitadores del acceso al tamizaje de cáncer colorrectal / Barriers and facilitators of colorectal cancer screening access

Resumen Introducción : El cáncer colorrectal (CCR) es un pro blema de salud a nivel global. En el sector público de Bahía Blanca, el tamizaje de CCR es oportunista, por solicitud de sangre oculta en materia fecal (SOMF). El objetivo de este trabajo es describir el acceso al tamiza je de CCR de la población con cobertura pública exclu siva que reside en el área programática 2 de la ciudad entre 2019 y 2021, y relevar las barreras y facilitadores que lo determinan. Métodos : Se estimó la tasa de uso anual y acumula da de SOMF. Las barreras y facilitadores se relevaron a través de 41 entrevistas individuales semi-estructuradas al personal de salud del área programática, el Hospital Municipal, Secretaría de Salud y usuarios/no usuarios del sistema. Resultados : La tasa acumulada de uso de SOMF en el período fue 4.8%. Entre las barreras al tamizaje per cibidas se destacan: la dificultad en el acceso a estudios de mayor complejidad para pacientes con SOMF+, el desconocimiento y falta de percepción del CCR como un problema de salud por parte de la población y la baja adherencia de los profesionales a los lineamientos. La territorialidad y el vínculo de los centros de salud con la población, y la predisposición de usuarios y profesio nales a incorporar el tamizaje surgen como facilitadores del mismo. Conclusiones : El relevamiento de las barreras orien tará el diseño de estrategias adaptadas al contexto que permitan en el futuro reforzar el tamizaje.

Abstract Introduction : Colorectal cancer (CRC) is a global health problem. In the public sector of Bahía Blanca, CRC screening is opportunistic, through the request of fecal occult blood test (FOBT). The objective of this study is to describe access to CRC screening for the population with exclusive public coverage residing in the program matic area 2 of the city between 2019 and 2021, and to identify the barriers and facilitators that determine it. Methods : The annual and cumulative usage rate was estimated based on the number of patients who requested FOBT. The barriers and facilitators were studied through 41 semi-structured individual inter views to healthcare staff from the area, the Municipal Hospital, Health Secretariat and users/non-users of the system. Results : The cumulative usage rate of FOBT during the period was less than 5%. Among the perceived bar riers to screening, we found: the difficulties in accessing more complex studies for patients with positive FOBT, the lack of population awareness and perception of CRC as a health problem, the low adherence of professionals to guidelines. The territoriality and link of health centers with the population, as well as the willingness of users and professionals to incorporate screening, emerge as facilitators. Conclusion : The identification of barriers and facilita tors will allow the design of context-adapted strategies that will strengthen screening in the future.

Neoplasia endócrina múltiple y enfermedad inflamatoria intestinal de inicio muy temprano. Una asociación inesperada / Multiple endocrine neoplasia and very early onset in flammatory bowel disease. An unexpected association

Resumen La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias prima rias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.

Abstract Very early onset inflammatory bowel disease (VEOI BD) is a rare entity in pediatrics. Its association with pri mary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endo crine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.

Fascitis nodular como causa de tumor lateral de cuello / Nodular fasciitis as cause of lateral neck tumor

RESUMEN La fascitis nodular es una neoplasia infrecuente y benigna que puede presentarse en los tejidos blandos de cualquier región del cuerpo y requerir tratamiento quirúrgico. Se describe aquí el caso de una mujer de 41 años con un tumor lateral de cuello que creció hasta 74,7 por 32,5 mm durante dos años. Bajo anestesia general se realizó la resección completa del tumor. El informe patológico informó una proliferación de miofibroblastos, compatible con fascitis nodular. La paciente evolucionó con un síndrome de Claude Bernard Horner homolateral, sin complicaciones locales y con una leve debilidad del brazo homolateral que recuperó luego de 60 días con kinesioterapia. Esta entidad debería ser considerada entre los diagnósticos diferenciales de un tumor lateral de cuello.

ABSTRACT Nodular fasciitis is a rare and benign neoplasm of the soft tissues that can occur in any region of the body and require surgical treatment. We report the case of a 41-year-old female patient with a lateral neck tumor which reached a size of 74.7 × 32.5 mm after two years. The tumor was completely removed under general anesthesia. The pathological examination reported proliferation of myofibroblasts, suggestive of nodular fasciitis. The patient evolved homolateral Claude Bernard Syndrome, without local complications and mild weakness of the ipsilateral arm which improved after 60 days with kinesiotherapy. This condition should be considered among the differential diagnoses of lateral neck tumors.

Colgajos libres para reconstrucción de cabeza y cuello: experiencia de un centro oncológico chileno

Objetivo: eportar nuestra experiencia en la reconstrucción de pacientes con tumores de cabeza y cuello. Materiales y Métodos: Revisión retrospectiva de fichas clínicas de los pacientes sometidos a reconstrucciones con colgajos microquirúrgicos entre los años 2007 y 2020 en la Fundación Arturo López Pérez. Resultados: En este período 186 cirugías fueron realizadas, lo que correspondió a 173 pacientes, la mediana de edad fue de 59 años, 55% eran hombres. 29% correspondieron a rescates quirúrgicos. Al diagnóstico 110 (54%) tenían una enfermedad localmente avanzada (T3-T4). El sitio anatómico más frecuentemente reconstruido fue la cavidad oral, 83(45%). La histología más frecuente fue el carcinoma escamoso. Los colgajos más utilizados fueron el osteocutáneo de peroné, anterolateral de muslo (ALT) y antebraquial. La sobrevida global a 5 años fue 44,3%, con amplia variabilidad entre las distintas histologías. Discusión: En el análisis de nuestros resultados en dos períodos de siete años (2007-2013 y 2014-2020), el porcentaje de falla de colgajo disminuyó (10% versus 2,6%; p = 0,012); al igual que la estadía hospitalaria que disminuyó (de una mediana de 23 días a 18 días; p = 0,041). El uso del colgajo ALT aumentó de 14% a 29%, esto último aprovechando la versatilidad del colgajo de ALT para la fabricación de múltiples paletas cutáneas, que permiten reconstrucciones más complejas. Conclusión: Las reconstrucciones microquirúrgicas en nuestra institución son una opción estandarizada, confiable y comparable con centros internacionales.

Objective: To report our experience, and success rate for head and neck reconstruction in a Chilean oncologic center. Methods: Charts were reviewed retrospectively for all patients treated surgically for head and neck tumors that needed a free flap reconstruction from 2007 to 2020. The demographics and epidemiologic variables were described. Overall survival was calculated with the Kaplan-Meier method. Results: One hundred and eighty-six operations were performed on 173 patients; the median age was 59 years, and 55% were male. Twenty-nine percent of patients required a surgical rescue. The most frequently used free flaps were the anterolateral thigh, fibula osteocutaneous, and radial forearm. A second free flap was needed in 13 patients. Five-year overall survival for the whole cohort was 44.3% and varied according to histology: 28.2% for squamous cell carcinoma and 68.9% for salivary gland histology. Discussion: In analysis of our results in two seven-year periods (2007-2013 and 2014-2020), the percentage of flaps that failed decreased (10% earlier versus 2.6% later; p =.012); the length of hospital stay declined (median 23 days earlier vs 18 days later; p =.041), and the use of anterolateral thigh flaps increased 14% vs 29%, taking advantage of the versatility of the anterolateral thigh flap for the fabrication of multiple skin palettes, allowing for more complex reconstructions. Conclusion: In our institution, outcomes with free flap reconstruction for head and neck were satisfactory and improved with operator experience.

Marcadores de cáncer stem cells y transición epitelio mesenquimal como factores de agresividad y progresión en pacientes jóvenes con cáncer de tiroides

El cáncer de tiroides (CT) es el primer tumor maligno en glándulas endocrinas, y se estima que al 2030 estará en el top cinco de cáncer a nivel mundial. En Chile, el CT fue incluido, recientemente, como la patología N° 82 con Garantías Explícitas de Salud, lo que implica destinar importantes recursos públicos y privados al tratamiento de pacientes con un cáncer que va en aumento en el mundo. Existen grupos de pacientes jóvenes con tumores pequeños que presentan un comportamiento clínico más agresivo desde el inicio, donde se podría adelantar la toma de decisiones. Específicamente, destaca un grupo de pacientes menores de 55 años con tumores pequeños menores de 2 cm, pero con metástasis regionales, que quedan fuera de la indicación de radioyodoterapia y podrían requerir tratamiento complementario o presentar peor evolución. Las herramientas clínicas y moleculares para guiar el tratamiento adecuado en pacientes con metástasis linfonodales son limitadas y no han sido actualizadas hasta el momento. Existen factores de tumorigenicidad y pronóstico, tales como los marcadores de Transición Epitelio-Mesenquimal (TEM) y Cáncer Stem Cells (CSC) que se han incorporado al estudio de otros tumores y recientemente en cáncer de tiroides. Actualmente estudios que relacionan TEM y CSC con CT apuntan a la descripción molecular y genética, con escasos reportes que correlacionen, clínicamente, estos hallazgos, (particularmente en subgrupos con características particulares de agresividad) y que los propongan como marcadores de tumorigenicidad y pronóstico. La descripción de estos biomarcadores en la población descrita podría facilitar la toma de decisiones en cuanto a seguimiento, terapia quirúrgica y radioyodoterapia.

Thyroid cancer (TC) is the first malignant tumor in endocrine glands, and it is estimated that by 2030 it will be in the top five cancers worldwide. In Chile, TC was recently included as pathology No. 82 with Explicit Health Guarantees, which implies allocating significant public and private resources to the treatment of patients with a cancer that is on the rise. There are groups of young patients with small tumors that present a more aggressive clinical behavior, where decision-making could be advanced. Specifically, a group of patients under 55 years of age with tumors less than 2 cm in size but with regional metastases, that lack indication for radioiodine therapy and could require complementary treatment or present a worse evolution. Clinical and molecular tools to guide appropriate treatment in patients with lymph node metastases are limited and have not been updated. There are tumorigenicity and prognostic factors, such as EpithelialMesenchymal Transition (EMT) and Cancer Stem Cells (CSC) markers that have been incorporated into the study of other tumors and recently in thyroid cancer. Studies linking EMT and CSC with TC currently point to molecular and genetic description, with few reports clinically correlating these findings (particularly in subgroups with particular characteristics of aggressiveness) and proposing them as tumorigenicity and prognosis markers. The description of these biomarkers in the described population could facilitate decision-making regarding follow-up, surgical therapy, and radioiodine therapy.