Sarcoma histiocítico pulmonar primario con metástasis en el SNC: reporte de un caso y perspectivas de la genómica

Área de la Ciencia:

• Oncology; Genetics; Pathology

Sus antecedentes:

• Histiocytic sarcoma (HS), now classified under Histiocytic/dendritic cell neoplasms, is a rare malignancy.; HS often presents extranodally and is characterized by aggressive behavior.

Objetivo del estudio:

• To investigate the molecular mechanisms driving primary pulmonary HS.; To compare survival outcomes of lung HS with HS at other sites.; To identify prognostic indicators for pulmonary HS.

Principales métodos:

• Case report of a 53-year-old female with primary pulmonary HS.; Utilized pathology, whole-exome sequencing, and fusion gene analysis.; Performed drug sensitivity profiling and comparative survival analysis.

Principales resultados:

• Identified concurrent RAS/MAPK and PI3K/mTOR pathway activation, TP53 biallelic inactivation, HLA alterations, and LOC285045 fusions.; Pulmonary HS demonstrated significantly worse survival compared to HS at other sites (p=0.03).; High cell growth rate (Ki-67 >30%) and large tumor size (>50 mm) were associated with poor prognosis.

Conclusiones:

• Molecular profiling revealed critical pathways and genetic alterations in pulmonary HS.; Lung HS carries a poorer prognosis than HS in other locations.; Tumor size and proliferation rate are key indicators for predicting outcomes in lung HS.