RESUMEN
We report the case of a 22-year-old patient with acute abdominopelvic pain. The diagnosis of hypercalcemic small cell carcinoma (SCCOHT)/ovarian rhabdoid tumor has been made. Small cell carcinoma of hypercalcemic type is a rare and aggressive tumor that occurs in young women. The diagnosis of this tumor and the management must be rapid in view of its aggressiveness. Through this observation, we specify the epidemiological, diagnostic, molecular aspects and discussions about its name.
Asunto(s)
Carcinoma de Células Pequeñas/secundario , Neoplasias Primarias Múltiples/patología , Neoplasias Ováricas/patología , Neoplasias Peritoneales/secundario , Tumor Rabdoide/secundario , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biomarcadores de Tumor/análisis , Carcinoma de Células Pequeñas/química , Carcinoma de Células Pequeñas/epidemiología , Carcinoma de Células Pequeñas/genética , Terapia Combinada , ADN Helicasas/genética , Diagnóstico Diferencial , Resultado Fatal , Femenino , Heterocigoto , Humanos , Hipercalcemia/etiología , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/secundario , Proteínas de Neoplasias/genética , Neoplasias Primarias Múltiples/química , Neoplasias Primarias Múltiples/epidemiología , Neoplasias Primarias Múltiples/genética , Proteínas Nucleares/genética , Neoplasias Ováricas/química , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Síndromes Paraneoplásicos/etiología , Neoplasias Peritoneales/cirugía , Mutación Puntual , Tumor Rabdoide/química , Tumor Rabdoide/epidemiología , Tumor Rabdoide/genética , Sarcoma de Ewing/diagnóstico , Factores de Transcripción/genética , Adulto JovenRESUMEN
Exonucleasic domain POLE (edPOLE) mutations, which are responsible for a hypermutated tumor phenotype, occur in 1-2% of colorectal cancer (CRC) cases. These alterations represent an emerging biomarker for response to immune checkpoint blockade. This study aimed to assess the molecular characteristics of edPOLE-mutated tumors to facilitate patient screening. Based on opensource data analysis, we compared the prevalence of edPOLE mutations in a control group of unselected CRC patients (n = 222) vs a group enriched for unusual BRAF/RAS mutations (n = 198). Tumor mutational burden (TMB) and immune infiltrate of tumors harboring edPOLE mutations were then analyzed. In total, 420 CRC patients were analyzed: 11 edPOLE-mutated tumors were identified, most frequently in microsatellite (MMR)-proficient young (< 70 years) male patients, with left-sided tumors harboring noncodon 12 KRAS mutation. The prevalence of edPOLE-mutated tumors in the control vs the experimental screening group was, respectively, 0.45% (n = 1) vs 5.0% (n = 10). Among the 11 edPOLE-mutated cases, two had a low TMB, three were hypermutated, and six were ultramutated. EdPOLE-mutated cases had a high CD8+ tumor-infiltrating lymphocyte (TIL) infiltration. These clinicopathological and molecular criteria may help to identify edPOLE mutations associated with a high TMB in CRC, and improve the selection of patients who could benefit from immunotherapy.