A Rare Extramedullary and Extralymphoid Presentation of Mixed Phenotypic Blastic Hematolymphoid Neoplasm: A Study of Two Cases

Mixed phenotype acute leukemia (MPAL) is a rare hematolymphoid neoplasm, representing only 3%–5% of acute leukemia. Although MPAL has been sufficiently described in the literature, its extramedullary presentation as a solitary lesion without leukemic (bone marrow [BM]) involvement is rarely described. We are presenting two cases of mixed phenotypic blastic hematolymphoid neoplasms without leukemic involvement at disease presentation in 8-year-old female and 21-year-old male patients. Both the cases had extralymphatic bone involvement in the form of solitary bone lesion. Initially, there was no leukemic involvement in both the cases, but the second case progressed to acute leukemia during the course of the disease. On immunophenotypic evaluation, both the cases revealed blasts showing unequivocal evidence of myeloid and B-lymphoid lineage commitment. These cases were difficult to categorize either into MPAL as the BM was not involved or into lymphoblastic lymphoma due to coexpression of myeloid differentiation. Therefore, we chose to classify them as a bi/mixed phenotypic blastic hematolymphoid neoplasm. Detailed immunophenotypic analysis either by immunohistochemistry or flow cytometric immunophenotyping is important for the diagnosis of such cases as they have a poor prognosis.