Acute myeloid leukemia associated with rapid acquisition of FLT3-internal tandem duplications, ecotropic virus integration site-1 and Wilms′ tumor 1 genes overexpression 4 months after an intermediate-risk myelodysplastic syndrome diagnosis

The myelodysplastic syndromes (MDS) are heterogeneous diseases with the different time period of progression to acute myeloid leukemia (AML). We report a case of a 38-year-old male with intermediate risk MDS, presence of normal karyotype and no expression of FLT3-internal tandem duplications (ITD), ecotropic virus integration site-1 (EVI-1) and Wilms′ tumor 1 (WT1). Four months later, overt AML was diagnosed. The presence of normal karyotype was once again observed, but the molecular analysis revealed FLT3-ITD presence and over-expression of WT1 and EVI-1 genes. Complete remission was achieved after high-dose induction chemotherapy, and high-dose cytarabine consolidation was carried out. Three months later a relapse with a fatal outcome occurred. The case is the first report of a quick MDS progression to AML within 4 months due to rapid acquisition of several molecular abnormalities. This case suggests that frequent molecular screening for relevant genetic abnormalities might be useful for early detection of disease progression, particularly in normal karyotype cases

A Rare Case of Primary Histiocytic Sarcoma of the Stomach

Histiocytic sarcoma is a rare lymphohematopoietic malignancy with aggressive clinical course and poor therapy response. The diagnosis relies on the confirmation of its histiocytic lineage and exclusion of other poorly differentiated tumors. Most of the cases present in extranodal sites, but primary gastric involvement is exceptional. We report a case of a 69-year-old woman with epigastric pain and systemic symptoms. Gastroscopy findings and biopsy report suggested a malignant neoplasm. The patient underwent distal subtotal gastrectomy with a 6-cm tumor in the body and antrum of the stomach and ten associated enlarged perigastric lymph nodes. Microscopically they were infiltrated with atypical tumor cells and immunohistochemical staining was positive for CD68, lysozyme, CD45, and CD4; 45% of the cells stained for Ki-67. The pathologic diagnosis was histiocytic sarcoma. CT body scans showed only enlarged retroperitoneal and abdominal lymph nodes. The patient received six cycles of CHOEP chemotherapy with complete therapeutic response, but three months later she experienced an aggressive systemic sarcoma recurrence and although salvage chemotherapy was initiated she died of progressive disease. The presented case widens the differential diagnosis of gastric malignancies, and emphasizes the significance of immunohistochemical examination for histiocytic sarcoma diagnosis. The collection and evaluation of cases of gastric histiocytic sarcoma are important to obtain further progress in prognosis and treatment