Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss of heterozygosity (LOH) via uniparental isodisomy. We observed an upregulation of the inflammatory gene expression signature in whole blood from these patients, mimicking monogenic inborn errors underlying autoinflammation. Remarkably, these patients had constitutively activated monocytes that secreted 10 to 100 times more inflammatory cytokines than those of healthy individuals and CBL LOF heterozygotes without LOH.

Desmoplastic Small Round Cell Tumor as a Rare Cause of an Incarcerated Epigastric Linea Alba Hernia: A Case Report and Literature Review.

Desmoplastic small round cell tumor is a very rare soft tissue sarcoma with a bleak prognosis and short patient survival. The most common occurrence is in 20-30-year-old men. Our study presents the case report of a 40-year-old patient who was diagnosed with this sarcoma.

Incarcerated metastasis as the first manifestation of a rare sarcoma.

Desmoplastic small round cell tumor belongs to a group of soft tissue sarcomas. It is a rare disease, since its discovery in 1989, only hundreds of cases have been described in the literature. Due to the rare incidence of the tumor, this disease remains unknown in common medical practice.