RESUMEN

BACKGROUND: Emerging randomized data, mostly from phase II trials, have suggested that patients with oligometastatic cancers may benefit from ablative treatments such as stereotactic ablative radiotherapy (SABR). However, phase III data testing this paradigm are lacking, and many studies have examined SABR in the setting of metachronous oligometastatic disease. The goal of the SABR-SYNC trial is to assess the effect of SABR in patients with oligometastatic cancers and a synchronous primary tumor. METHODS: One hundred and eighty patients will be randomized in a 1:2 ratio between standard of care (SOC) palliative-intent treatments vs. SOC + ablative therapy (SABR preferred) to all sites of known disease. Randomization will be stratified based on histology and number of metastases at enrollment. SABR may be delivered in 1-, 3- and 5-fraction regimens, with recommended doses of 20 Gy, 30 Gy, and 35 Gy, respectively. Non-SABR local modalities (e.g. surgery, thermal ablation, conventional radiation) may be used for treatment of the primary or metastases at the discretion of the treating physicians, if those modalities are clinically preferred. The primary endpoint is overall survival, and secondary endpoints include progression-free survival, time to development of new metastatic lesions, time to initiation of next systemic therapy, quality of life, and toxicity. Translational endpoints include assessment of circulating tumor DNA and immunological predictors of outcomes. DISCUSSION: SABR-SYNC will provide phase III data to assess the impact of SABR on overall survival in a population of patients with synchronous oligometastases. The translational component will attempt to identify novel prognostic and predictive biomarkers to aid in clinical decision making. TRIAL REGISTRATION: Clinicaltrials.gov NCT05717166 (registration date: Feb. 8, 2023).

Asunto(s)

Radiocirugia , Humanos , Radiocirugia/métodos , Metástasis de la Neoplasia , Femenino , Masculino , Neoplasias Primarias Múltiples/radioterapia , Anciano , Ensayos Clínicos Fase III como Asunto , Persona de Mediana Edad

RESUMEN

Multiple synchronous lung cancers (MSLCs) constitute a unique subtype of lung cancer. To explore the genomic and immune heterogeneity across different pathological stages of MSLCs, we analyse 16 MSLCs from 8 patients using single-cell RNA-seq, single-cell TCR sequencing, and bulk whole-exome sequencing. Our investigation indicates clonally independent tumours with convergent evolution driven by shared driver mutations. However, tumours from the same individual exhibit few shared mutations, indicating independent origins. During the transition from pre-invasive to invasive adenocarcinoma, we observe a shift in T cell phenotypes characterized by increased Treg cells and exhausted CD8+ T cells, accompanied by diminished cytotoxicity. Additionally, invasive adenocarcinomas exhibit greater neoantigen abundance and a more diverse TCR repertoire, indicating heightened heterogeneity. In summary, despite having a common genetic background and environmental exposure, our study emphasizes the individuality of MSLCs at different stages, highlighting their unique genomic and immune characteristics.

Asunto(s)

Adenocarcinoma del Pulmón , Neoplasias Pulmonares , Mutación , Análisis de la Célula Individual , Humanos , Adenocarcinoma del Pulmón/genética , Adenocarcinoma del Pulmón/inmunología , Adenocarcinoma del Pulmón/patología , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/inmunología , Neoplasias Pulmonares/patología , Secuenciación del Exoma , Femenino , Genómica , Masculino , Linfocitos T CD8-positivos/inmunología , Persona de Mediana Edad , Heterogeneidad Genética , Anciano , Receptores de Antígenos de Linfocitos T/genética , Receptores de Antígenos de Linfocitos T/inmunología , Linfocitos T Reguladores/inmunología , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/inmunología , Neoplasias Primarias Múltiples/patología

RESUMEN

Adenomyoepithelioma(AME)of the breast is a rare condition, and comorbidity with carcinoma is even more unusual. Herein, we report a case of both AME and apocrine carcinoma in different breasts of a single patient. A 48-year-old woman presented to our clinic with a right breast tumor. Fine needle aspiration cytology(FNAC)was indeterminate and suspicious for both papilloma and non-invasive ductal carcinoma, but excisional biopsy indicated an AME. Immuno-histochemical staining showed EMA(+), AE1/3(+), and CK7(+)mammary duct cells and αSMA(+), CK5/6(+), and p63(+) myoepithelial cells. Six months later, the patient noticed a left breast tumor, and although FNAC indicated no malignancy, after 6 additional months, the tumor size had increased and a mammography revealed tumor microcalcification, suggesting malignancy. Vacuum-assisted biopsy revealed an apocrine carcinoma. The patient underwent partial mastectomy and sentinel node biopsy, followed by radiotherapy and chemotherapy. The post-surgical pathology was pT1pN0M0, Stage Ⅰ, triple- negative, and the patient was disease-free for 12 years postoperatively. To our knowledge, this is only the second case of AME and breast cancer in different breasts reported in Japan.

Asunto(s)

Adenomioepitelioma , Neoplasias de la Mama , Humanos , Femenino , Persona de Mediana Edad , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Adenomioepitelioma/patología , Adenomioepitelioma/cirugía , Glándulas Apocrinas/patología , Glándulas Apocrinas/cirugía , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/cirugía , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/cirugía

RESUMEN

In advanced non-squamous non-small-cell lung cancer (NSCLC), routine testing with next-generation sequencing (NGS) is recommended to identify actionable genomic alterations (AGAs). The therapeutic implications of repeated NGS testing on synchronous and metachronous tumors are unclear. Between February 2017 and October 2020, NSCLC samples from a single institution were reflex-tested using a targeted 15-gene NGS panel (TruSight Tumor 15, Illumina). Thirty-eight patients were identified with multiple NGS results from 82 samples: 11% were from single unifocal, 51% were from synchronous, and 38% were from metachronous tumors. Changes in EGFR, KRAS, PI3KCA, and TP53 variants were found in 22 patients' samples (58%). No changes were seen with longitudinal testing of multiple samples from single unifocal tumors, while changes were observed in 60% of synchronous and 71% of metachronous tumors. Of these, 26% of patients had AGA differences between samples. Acknowledging the limited sample size, a significant difference in overall survival was observed between synchronous separate primaries and metastasis. Repeat NGS testing of synchronous and metachronous NSCLC tumors may identify differing variants in >50% of patients. These changes may reflect separate primary lung carcinomas, tumor heterogeneity among intrapulmonary metastases, and clonal evolution. NGS testing of multiple tumors may enhance the identification of therapeutic targets for treatment decisions.

Asunto(s)

Carcinoma de Pulmón de Células no Pequeñas , Secuenciación de Nucleótidos de Alto Rendimiento , Neoplasias Pulmonares , Humanos , Carcinoma de Pulmón de Células no Pequeñas/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Masculino , Femenino , Anciano , Persona de Mediana Edad , Anciano de 80 o más Años , Adulto , Neoplasias Primarias Múltiples/genética , Mutación

RESUMEN

BACKGROUND: Pancreatic acinar cell carcinoma (PACC) is a rare pancreatic neoplasm. Recently, molecular analysis revealed that PACC shows a high frequency of the BRCA1/2 mutation and is likely to be considered a cancer associated with hereditary breast and ovarian cancer (HBOC). Hereditary cancers, including HBOC, are characterized by multifocal and/or metachronous tumors. However, no case reports exist of germline BRCA1-mutated synchronous and metachronous PACC. CASE: A 58-year-old man was diagnosed with synchronous and metachronous PACC at the age of 56 and underwent two surgeries. Ten months after the second surgery, the patient developed multiple liver metastases. Gemcitabine plus nab-paclitaxel therapy was administered as first-line chemotherapy. After seven cycles, computed tomography examination revealed progressive disease (PD). Therefore, modified FOLFIRINOX (mFFX) was administered as second- line chemotherapy. After 19 cycles of mFFX, comprehensive cancer genomic profiling (CGP) identified a BRCA1 pathogenic variant that was confirmed to be germline origin. Accordingly, we treated the patient with olaparib; however, he was diagnosed with PD after 4 months. He subsequently died 5 years and 9 months after the initial surgery, and 3 years and 10 months after chemotherapy. Based on the genetic data of the patients, his family members received genetic counseling followed by cascade testing. Consequently, the same gBRCA1 pathogenic variant was detected in the son and his surveillance for HBOC-related cancers was initiated. CONCLUSION: We diagnosed a 58-year-old man with a synchronous and metachronous PACC with germline BRCA1 pathogenic variant. Considering that PACC is likely to have BRCA1/2 mutations responsible for HBOC, we need to be aware of the possible presence of multifocal and/or metachronous tumors in patients with PACC. Additionally, patients with PACC should undergo genetic examinations, which would be beneficial in determining treatment strategies and health care for blood relatives.

Asunto(s)

Protocolos de Quimioterapia Combinada Antineoplásica , Proteína BRCA1 , Carcinoma de Células Acinares , Mutación de Línea Germinal , Neoplasias Pancreáticas , Humanos , Persona de Mediana Edad , Masculino , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patología , Proteína BRCA1/genética , Carcinoma de Células Acinares/genética , Carcinoma de Células Acinares/patología , Carcinoma de Células Acinares/diagnóstico , Carcinoma de Células Acinares/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Primarias Secundarias/genética , Neoplasias Primarias Secundarias/patología , Neoplasias Primarias Secundarias/diagnóstico , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/terapia , Oxaliplatino/administración & dosificación , Leucovorina/administración & dosificación , Irinotecán/administración & dosificación , Paclitaxel/administración & dosificación , Fluorouracilo/administración & dosificación

RESUMEN

RATIONALE: 3P association (3PA) is a rare condition with co-occurrence of pituitary adenoma and pheochromocytoma/paraganglioma. There have been less than a hundred documented cases of 3PA, which can be sporadic or related to genetic mutations. The present case report describes the first Iranian patient with 3PA and a 90th case of 3PA in the available literature. PATIENT CONCERNS AND INTERVENTIONS: A 36-year-old Caucasian male was admitted with headache and sudden increase in blood pressure. An abdominal CT scan revealed a retroperitoneal mass posterior to the inferior vena cava, later removed and diagnosed as a pheochromocytoma. Four years later, he noticed occasional mild headaches and a painless mass on the right side of his neck. The ultrasonography evaluations suggested a carotid body tumor, which was surgically removed. About a month after his second surgery, the severity of the patient's headaches worsened, and he developed right homonymous hemianopia. A brain MRI showed a mass in favor of macroadenoma, craniopharyngioma, or meningioma, and elevated prolactin level led to the diagnosis of macroprolactinoma. DIAGNOSES: Based on the provided history, this patient was diagnosed with 3PA, and a genetic study identified a positive succinate-dehydrogenase-complex subunit b mutation, possibly linked to his family history of carotid body tumor. OUTCOMES: He has remained symptom-free during his visits every 3 months. LESSONS: The number of cases diagnosed with 3PA worldwide is increasing. Using clinical and genetic assessments, we can timely diagnose and adequately monitor individuals with or at risk of 3PA.

Asunto(s)

Neoplasias de las Glándulas Suprarrenales , Paraganglioma , Feocromocitoma , Neoplasias Hipofisarias , Humanos , Masculino , Adulto , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/genética , Feocromocitoma/diagnóstico , Feocromocitoma/complicaciones , Feocromocitoma/cirugía , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/cirugía , Paraganglioma/diagnóstico , Paraganglioma/complicaciones , Paraganglioma/genética , Paraganglioma/cirugía , Adenoma/complicaciones , Adenoma/diagnóstico , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patología

RESUMEN

RATIONALE: Multiple primary cancers (MPC) are malignant tumors that manifest as multiple primary tumors diagnosed in the same patient, either simultaneously or sequentially. Billroth first proposed the concept in 1889. Here, we report a rare case of untreated acute myeloid leukemia (AML) and adenocarcinoma of the cardia. PATIENT CONCERNS: A 58-year-old male with muscle and joint pain for >1 month was admitted to the hospital with severe chest pain for 3 hours on July 14, 2023. The patient had chest tightness, shortness of breath, and dyspnea. The skin, mucosa, and lips of the patient were slightly pale and the sternum had mild tenderness. Other systemic examinations did not reveal any obvious abnormalities. The results of routine blood tests on admission were as follows: white blood cells, 7.46 × 109/L; red blood cells, 2.32 × 1012/L; hemoglobin, 90 g/L; and platelets, 62 × 109/L. DIAGNOSIS: The patient was diagnosed with acute myeloid leukemia (FLT3, DNMT3A, U2AF1, and SMC3 mutations; KMT2A amplification; high-risk) and adenocarcinoma of the cardia. INTERVENTIONS: The patient was treated with azacitidine + Veneckla chemotherapy, and through precise regulation, the patient survived the period of bone marrow suppression. He was unable to achieve complete relief and finally underwent allogeneic hematopoietic stem cell transplantation in February 2024. OUTCOMES: Bone marrow cytology and minimal residual disease analysis indicated complete relief on April 22, 2024, with the bone marrow exhibiting complete chimerism (99.63%). The patient and his family members decided to seize the opportunity to perform radical surgical treatment for gastric cancer on May 16, 2024. LESSONS: The development of medicine, especially in oncology, has led to an increased possibility of developing multiple cancers. Clinically, some doctors may not be aware of the existence of multiple primary cancers, especially simultaneous carcinomas, which can be easily missed or misdiagnosed.

Asunto(s)

Adenocarcinoma , Leucemia Mieloide Aguda , Neoplasias Gástricas , Humanos , Masculino , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patología , Persona de Mediana Edad , Leucemia Mieloide Aguda/diagnóstico , Adenocarcinoma/diagnóstico , Adenocarcinoma/patología , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/terapia

RESUMEN

To compare clinical characteristics and survival outcomes of patients with multiple renal cell carcinoma versus single renal cell carcinoma. Develop a prognostic model for predicting prognosis in patients with multiple tumors and analyze prognostic factors. Patients with primary multiple renal cell carcinoma were selected from the Surveillance, Epidemiology, and End Results database (2004-2015). They were divided into single-tumor and multiple-tumor groups. Survival analysis was conducted using the Kaplan-Meier method and log-rank test. A Cox regression model was used to identify potential prognostic factors. A total of 19,489 renal cell carcinoma cases were included, with 947 in the multiple-tumor group and 18,542 in the single-tumor group. The multiple-tumor group had lower cancer-specific survival (P = 0.03, HR = 1.431). Cox regression identified risk factors for the multiple-tumor group including number of tumors, gender, combined summary stage, T stage, N stage, tumor size, and type of surgery. The predicted probabilities showed acceptable agreement with the actual observations at 3-, 5-, and 8-years area under the curve values in both the training and validation cohorts (0.831 vs. 0.605; 0.775 vs. 0.672; and 0.797 vs. 0.699, respectively). Compared with single renal cell carcinoma, multiple renal cell carcinoma is associated with decreased cancer-specific survival. Additionally, we identified several prognostic factors including the number of tumors, T stage, tumor size, and type of surgery. These findings offer valuable insights for selecting appropriate treatment strategies for patients diagnosed with multiple renal cell carcinomas.

Asunto(s)

Carcinoma de Células Renales , Neoplasias Renales , Programa de VERF , Humanos , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/mortalidad , Masculino , Femenino , Pronóstico , Persona de Mediana Edad , Neoplasias Renales/patología , Neoplasias Renales/mortalidad , Neoplasias Renales/cirugía , Anciano , Análisis de Supervivencia , Estimación de Kaplan-Meier , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/mortalidad , Estadificación de Neoplasias , Adulto , Factores de Riesgo , Anciano de 80 o más Años , Modelos de Riesgos Proporcionales

Asunto(s)

Linfoma de Células B Grandes Difuso , Neoplasias Primarias Múltiples , Humanos , Masculino , Anciano , Linfoma de Células B Grandes Difuso/patología , Linfoma de Células B Grandes Difuso/genética , Linfoma de Células B Grandes Difuso/metabolismo , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/genética , Linfoma de Células T/patología , Linfoma de Células T/genética , Linfoma de Células T/metabolismo , Neoplasias Gastrointestinales/patología , Neoplasias Gastrointestinales/metabolismo , Neoplasias Gastrointestinales/genética , Intestino Delgado/patología , Ciclofosfamida/uso terapéutico , Vincristina/uso terapéutico , Doxorrubicina/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Diagnóstico Diferencial , Prednisona/uso terapéutico

RESUMEN

BACKGROUND: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, the coexistence of PTC and medullary thyroid carcinoma (MTC) is uncommon. While the simultaneous occurrence of both cancers with small lymphocytic lymphoma (SLL) in lymph nodes with PTC metastasis is very rare. This study presents a unique case of concurrent PTC, MTC, and SLL, highlighting the exceptional rarity of these coexisting tumors. METHODS: A 75-year-old female with a thyroid tumor underwent total thyroidectomy, bilateral central neck lymph node dissection, and right radical neck lymph node dissection. Histopathological examination revealed a low-grade medullary thyroid carcinoma (MTC) in the left lobe and classical papillary thyroid carcinoma (PTC) in the right lobe, with PTC metastasis in the cervical lymph nodes and concurrent SLL in the affected lymph nodes. RESULTS: Coexistence of PTC, MTC and SLL in the same patient is rare, there are currently no standardized treatment guidelines due to the limited literature. However, it is essential to consider not only the treatment for each type of tumor but also the potential risks or conflicts associated with the treatments. In the case reported in this paper, the papillary carcinoma invaded the capsule of the right lobe of the thyroid and metastasized to the cervical lymph nodes, warranting radioactive iodine therapy. However, considering the potential negative impact of radioactive iodine on the pre-existing lymphoma, the radioactive iodine therapy was postponed. Meanwhile, constant monitoring of calcitonin and thyroid globulin should be performed to monitor tumor recurrence as was performed in the present case. CONCLUSION: Since MTC, PTC, and SLL may coexist, patients with PTC deserve careful surveillance for the other disease entities. This case underscores the need for heightened awareness among clinicians, radiologists, and pathologists regarding the possibility of concurrent thyroid tumors and abnormal lymph nodes, guiding comprehensive pre-operative evaluations and postoperative monitoring strategies. This study aims to provide a warning for routine pathological diagnosis and contribute data for related research.

Asunto(s)

Carcinoma Neuroendocrino , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides , Humanos , Femenino , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/cirugía , Anciano , Cáncer Papilar Tiroideo/patología , Cáncer Papilar Tiroideo/cirugía , Cáncer Papilar Tiroideo/complicaciones , Carcinoma Neuroendocrino/patología , Carcinoma Neuroendocrino/complicaciones , Tiroidectomía , Neoplasias Primarias Múltiples/patología , Metástasis Linfática , Escisión del Ganglio Linfático , Disección del Cuello

RESUMEN

BACKGROUND: This systematic review aimed to incorporate published data regarding synchronous cemento-ossifying fibromas (COF), with an analysis of their demographic and clinicopathological characteristics. MATERIAL AND METHODS: Case reports and case series of synchronous COF were searched in PubMed, Web of Science, Scopus, EMBASE, and LILACS according to the PRISMA (2020) statement. Also, a manual search was carried out and the grey literature was assessed. A descriptive statistical analysis was performed. RESULTS: Nineteen studies comprising 20 cases of synchronous COF were included. The mean age at diagnosis was 35 years (±13.8), with a predominance of female patients (n=12/60%). In 13 cases (65%) the mandible and the maxilla were affected simultaneously. In two cases (10%) first-degree relatives (parents or siblings) had been previously diagnosed with COF. The diagnostic hypotheses were reported in 8 cases (40%), with florid cemento-osseous dysplasia, ameloblastic fibroodontoma, calcifying cystic odontogenic tumor, osteoma and cementoblastoma being cited in the differential diagnosis. Among the cases with details about management (n=17), eleven were treated by surgical enucleation and/or excision (64.7%). Follow-up was provided for 10 cases (50%), with a mean period of 44.7±62.19 months. Recurrence occurred in three of informed cases. CONCLUSIONS: Synchronous manifestation of COF is rare. Female patients around the 3rd decade of life are more commonly affected. Bilateral involvement of the mandible and maxilla is the most common clinical presentation.

Asunto(s)

Fibroma Osificante , Humanos , Fibroma Osificante/patología , Fibroma Osificante/diagnóstico , Femenino , Neoplasias Primarias Múltiples/patología , Neoplasias Mandibulares/patología , Cementoma/patología , Adulto , Masculino , Neoplasias Maxilares/patología

Asunto(s)

Carcinoma Endometrioide , Neoplasias Endometriales , Neoplasias Primarias Múltiples , Neoplasias Ováricas , Humanos , Femenino , Carcinoma Endometrioide/patología , Neoplasias Endometriales/patología , Neoplasias Ováricas/patología , Neoplasias Primarias Múltiples/patología , Persona de Mediana Edad

RESUMEN

Subtotal colectomy is often performed on patients with synchronous colorectal cancer. However, compared with colorectal anastomosis, ileorectal anastomosis with subtotal colectomy is more likely to result in bowel dysfunction. The Deloyers procedure is useful in preserving bowel function in a patient with synchronous colorectal cancer. An 87-year-old man presented with bloody stool. Colonoscopy showed masses in the cecum, transverse colon, rectosigmoid, and rectum above the peritoneal reflection. Computed tomography scan revealed no evidence of regional lymph node swelling and distant metastasis. Therefore, robot-assisted low anterior resection, laparoscopic extended left hemicolectomy, laparoscopic cecal resection, and diverting ileostomy were performed. The patient was discharged from the hospital without complications. There was no recurrence, and the patient did not have complaints such as urgency, fecal incontinence, and excretory dysfunction. Hence, minimally invasive coloproctectomy using the Deloyers procedure can be safe and useful in preserving postoperative bowel function in elderly patients.

Asunto(s)

Colectomía , Humanos , Masculino , Anciano de 80 o más Años , Colectomía/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Neoplasias Colorrectales/cirugía , Neoplasias Colorrectales/patología , Laparoscopía/métodos , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/patología , Proctectomía/métodos , Adenocarcinoma/cirugía , Adenocarcinoma/patología

RESUMEN

CLINICAL CASE: The 59-year-old patient complained of hearing loss on the left, ear murmur for a long time, periodic pain and discomfort in the left ear, dizziness for 6 months. She was found to have concurrent vestibular schwannoma in the internal auditory canal and temporal bone paraganglioma. Both tumors were removed in one operation. The schwannoma was removed by translabirinth access due to preoperative deafness, while the glomus tumor was removed during this access. Postoperative biopsy showed the presence of two unrelated diseases: paraganglioma (ICD-0 code 8690/3) and schwannoma (ICD-0 code 9560/0).

Asunto(s)

Oído Interno , Oído Medio , Paraganglioma , Humanos , Persona de Mediana Edad , Femenino , Oído Medio/cirugía , Oído Medio/patología , Oído Interno/cirugía , Paraganglioma/cirugía , Paraganglioma/complicaciones , Paraganglioma/diagnóstico , Neoplasias del Oído/cirugía , Neoplasias del Oído/complicaciones , Neoplasias del Oído/diagnóstico , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/patología , Neuroma Acústico/cirugía , Neuroma Acústico/complicaciones , Neuroma Acústico/diagnóstico , Neoplasias de los Nervios Craneales/cirugía , Neoplasias de los Nervios Craneales/diagnóstico , Neoplasias de los Nervios Craneales/complicaciones , Procedimientos Quirúrgicos Otológicos/métodos , Hueso Temporal/cirugía , Hueso Temporal/patología

RESUMEN

We present a combination of distal cholangiocarcinoma of the intrapancreatic common bile duct and intraductal papillary mucinous tumor associated with ductal adenocarcinoma of the pancreatic tail. This clinical case is unique. When analyzing the literature, we found no any case of similar primary multiple malignant tumor. Importantly, final diagnosis of simultaneous malignant pancreatobiliary neoplasia is possible only via intraoperative biopsy after adequate morphological dissection and research of resected organ complex including molecular genetic analysis due to identical histological and immunohistochemical picture of ductal neoplasia.

Asunto(s)

Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Colangiocarcinoma , Neoplasias Primarias Múltiples , Humanos , Colangiocarcinoma/diagnóstico , Colangiocarcinoma/cirugía , Colangiocarcinoma/patología , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/diagnóstico , Carcinoma Ductal Pancreático/cirugía , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/patología , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/cirugía , Adenocarcinoma Mucinoso/patología , Masculino , Neoplasias de los Conductos Biliares/cirugía , Neoplasias de los Conductos Biliares/diagnóstico , Neoplasias de los Conductos Biliares/patología , Neoplasias Pancreáticas/cirugía , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patología , Neoplasias del Conducto Colédoco/cirugía , Neoplasias del Conducto Colédoco/diagnóstico , Neoplasias del Conducto Colédoco/patología , Conducto Colédoco/cirugía , Conducto Colédoco/patología , Persona de Mediana Edad , Pancreatectomía/métodos , Resultado del Tratamiento , Anciano , Tomografía Computarizada por Rayos X/métodos

RESUMEN

INTRODUCTION: Concurrent non-serous endometrial and ovarian tumours are often managed clinically as two separate primary tumours, but almost all exhibit evidence of a genomic relationship. METHODOLOGY: This study investigates the extent of relatedness using whole exome sequencing, which was performed on paired non-serous endometrial and ovarian carcinomas from 27 patients with concurrent tumours in a cohort with detailed clinicopathological annotation. Four whole exome sequencing-derived parameters (mutation, mutational burden, mutational signatures and mutant allele tumour heterogeneity scores) were used to develop a novel unsupervised model for the assessment of genomic similarity to infer genomic relatedness of paired tumours. RESULTS: This novel model demonstrated genomic relatedness across all four parameters in all tumour pairs. Mutations in PTEN, ARID1A, CTNNB1, KMT2D and PIK3CA occurred most frequently and 24 of 27 (89 %) tumour pairs shared identical mutations in at least one of these genes, with all pairs sharing mutations in a number of other genes. Ovarian endometriosis, CTNNB1 exon 3 mutation, and progression and death from disease were present across the similarity ranking. Mismatch repair deficiency was associated with less genomically similar pairs. DISCUSSION: Although there was diversity across the cohort, the presence of genomic similarity in all paired tumours supports the hypothesis that concurrent non-serous endometrial and ovarian carcinomas are genomically related and may have arisen from a common origin.

Asunto(s)

Neoplasias Endometriales , Secuenciación del Exoma , Mutación , Neoplasias Ováricas , Humanos , Femenino , Neoplasias Endometriales/genética , Neoplasias Endometriales/patología , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Persona de Mediana Edad , Anciano , Neoplasias Primarias Múltiples/genética , Neoplasias Primarias Múltiples/patología , Adulto , Fosfohidrolasa PTEN/genética , Genómica/métodos , Exoma/genética , Proteínas de Unión al ADN , Factores de Transcripción , beta Catenina

RESUMEN

BACKGROUND Fanconi anemia (FA) is a genetic disorder that impairs the function of the bone marrow and predisposes individuals to aplastic anemia. The condition is caused by mutations in genes responsible for DNA repair. People with FA have an increased risk of developing tumors due to DNA damage. Flat-cell carcinomas of the head, neck, esophagus, and genital organs are often observed in individuals with FA. CASE REPORT A 31-year-old man with Fanconi anemia and a history of bone marrow transplantation was admitted to the General Surgery Department due to elevated levels of the CEA marker. Before the transplantation, chromosomal anomalies, bone marrow hypoplasia, kidney agenesis, and bone defects were noted. After the transplantation, he developed a skin rash. He was also diagnosed with squamous cell carcinoma of the lip and chronic conditions, including cholestatic liver damage, hypertension, and hypothyroidism. During the diagnostic process, computed tomography showed signs of Barrett's esophagus, numerous polyps in the stomach and intestines, and a nodular formation measuring 4.5×5×5.5 cm in the right iliac region. Laparoscopy revealed a neoplasm of the appendix with numerous metastases on the inner abdominal wall and omentum. Histological analysis confirmed mucinous appendiceal cancer. The patient was discharged for palliative treatment at the Oncology Center with a final diagnosis of appendiceal cancer, mucinous type, grade G3. This case underscores the importance of early and comprehensive cancer screening in individuals with FA, particularly those with a history of bone marrow transplantation. CONCLUSIONS This clinical case underscores the critical importance of thorough and timely cancer diagnosis in individuals with this genetic pathology.

Asunto(s)

Neoplasias del Apéndice , Anemia de Fanconi , Humanos , Masculino , Adulto , Anemia de Fanconi/complicaciones , Neoplasias del Apéndice/complicaciones , Neoplasias Primarias Múltiples , Trasplante de Médula Ósea

RESUMEN

BACKGROUND: Among patients with nephroblastoma, those with bilateral disease are a unique population where maximising tumour control must be balanced with preserving renal parenchyma. METHODS: The SIOP 2001 protocol recommended surgery after neoadjuvant cycle(s) of Dactinomycin and Vincristine (AV) with response-adapted intensification, if needed. Adjuvant treatment was given based on the lesion with the worst histology. RESULTS: Three hundred and twenty seven patients with stage V disease were evaluable: 174 had bilateral Wilms tumour (BWT), 101 unilateral WT and contralateral nephroblastomatosis (NB) and 52 bilateral nephroblastomatosis. In these three groups, the estimated 5y-EFS was 76.1%, 84.6%, and 74.9%, respectively. AV chemotherapy alone was the successful chemotherapy for 58.7% of all the patients and 65.6% of the non-metastatic patients. Among the 174 patients with BWT, 149 (88.2%) had at least one nephron-sparing surgery. Twenty of 61 bilateral stage I patients were treated with four-week AV postoperatively achieving 94.4% 5y-EFS. At last follow-up, 87% of patients had normal renal function. CONCLUSIONS: This study demonstrates that AV without anthracyclines is sufficient to achieve NSS and good survival in the majority of patients. For patients with bilateral stage I WT and intermediate risk histology, only four weeks adjuvant AV seems to be sufficient. CLINICAL TRIAL REGISTRATION: NCT00047138.

Asunto(s)

Protocolos de Quimioterapia Combinada Antineoplásica , Dactinomicina , Neoplasias Renales , Vincristina , Tumor de Wilms , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Quimioterapia Adyuvante , Dactinomicina/administración & dosificación , Dactinomicina/uso terapéutico , Neoplasias Renales/patología , Neoplasias Renales/tratamiento farmacológico , Neoplasias Renales/cirugía , Neoplasias Renales/terapia , Terapia Neoadyuvante , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/tratamiento farmacológico , Neoplasias Primarias Múltiples/cirugía , Nefrectomía/métodos , Resultado del Tratamiento , Vincristina/administración & dosificación , Vincristina/uso terapéutico , Tumor de Wilms/patología , Tumor de Wilms/tratamiento farmacológico , Tumor de Wilms/cirugía , Tumor de Wilms/terapia

RESUMEN

BACKGROUND: Surgery is the standard care for patients with early-stage lung cancer, and stereotactic body radiation therapy is an option for those who are medically inoperable or refuse surgery. Medical developments in diagnostic and therapeutic strategies would prolong prognosis of patients with cancer. The number of patients with multiple cancers has also increased. Duplex primary malignant neoplasms are the most common, and triple or more primary malignant neoplasms were extremely rare. This is the first case of sextuple primary malignant neoplasms with lung cancer. CASE PRESENTATION: We report a case of two courses of stereotactic body radiation therapy for an 88-year-old Japanese male patient with six primary cancers in five organs. Cancers were detected in the thyroid, prostate, esophagus, bladder, and lungs. He also had a history of angina pectoris and had undergone percutaneous coronary intervention. Although he was capable of undergoing surgery for lung cancers, he refused it because he had experienced many invasive treatments, such as surgeries and percutaneous coronary intervention. In January 2020, the first stereotactic body radiation therapy was performed for the adenocarcinoma in the right lung. In March 2022, the second stereotactic body radiation therapy was performed for the nodule of the left lung. Although he complained of mild dyspnea after the first stereotactic body radiation therapy, we did not use steroids because his peripheral oxygen saturation was within the normal range. He had pleural effusion, cardiac dilatation, and pericardial effusion 2 months after the second stereotactic body radiation therapy, which improved with the use of compression stockings. CONCLUSION: A total of 43 and 17 months have passed since the first and second stereotactic body radiation therapy, respectively, there is no local recurrence and the patient can walk independently. We safely performed stereotactic body radiation therapy twice for our older patient with metachronous early-stage lung cancers. If another new tumor is detected, stereotactic body radiation therapy would be a good treatment option for the functional preservation of organs.

Asunto(s)

Neoplasias Pulmonares , Radiocirugia , Humanos , Masculino , Radiocirugia/métodos , Neoplasias Pulmonares/radioterapia , Anciano de 80 o más Años , Neoplasias Primarias Múltiples/radioterapia , Neoplasias Primarias Múltiples/cirugía , Neoplasias Primarias Múltiples/patología , Neoplasias de la Próstata/radioterapia , Neoplasias de la Próstata/cirugía , Neoplasias de la Tiroides/radioterapia , Neoplasias de la Tiroides/cirugía , Neoplasias Esofágicas/radioterapia , Neoplasias de la Vejiga Urinaria/radioterapia , Neoplasias de la Vejiga Urinaria/cirugía , Adenocarcinoma/radioterapia , Adenocarcinoma/cirugía

RESUMEN

Multiple primary cancers are usually defined as primary malignant tumors of different histological origins in one person. Synchronous cancers are defined as two or more primary cancers diagnosed in the same patient at the same time or within six months after identifying the first tumor, and those cancers that develop at more than a six-month interval are termed as metachronous multiple primary cancers. Our study comprised of a patient with synchronous laryngeal cancer with double localizations. The case was solved through surgical excision of the tumors. Histopathological and immunohistochemistry examinations revealed synchronous laryngeal cancer. Laryngeal cancer should usually be managed through surgical resection, followed by oncological treatment.

Asunto(s)

Neoplasias Laríngeas , Neoplasias Primarias Múltiples , Humanos , Neoplasias Laríngeas/patología , Neoplasias Laríngeas/diagnóstico , Masculino , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/diagnóstico , Persona de Mediana Edad , Inmunohistoquímica/métodos