Malignant rhabdoid tumors are aggressive malignancies that can rarely present as hepatic masses in the pediatric population. The imaging findings are often nonspecific and usually suggest other more common hepatic tumors. We report the radiologic appearance of malignant rhabdoid tumor in a 3-month-old female with pathologic correlation.
Primary myelofibrosis (PMF), per WHO criteria, is a clonal myeloproliferative neoplasm that usually presents with a proliferation of granulocytic and megakaryocytic lineages with an associated fibrous deposition and extramedullary hematopoiesis. The bone marrow histologic findings of this disorder are typically characterized by the presence of myeloid metaplasia with an associated reactive fibrosis, angiogenesis, and osteosclerosis. However, marked myelofibrosis is not solely confined to PMF and may also be associated with other conditions including but not limited to acute megakaryoblastic leukemias (FAB AML-M7). Here, we describe a rare case of a non-megakaryoblastic acute myeloid leukemia with marked myelofibrosis with osteosclerosis and an isolated trisomy 19. A 19-year-old male presented with severe bone pain of one week duration with a complete blood cell count and peripheral smear showing a mild anemia and occasional circulating blasts. A follow up computed tomography (CT) scan showed diffuse osteosclerosis with no evidence of hepatosplenomegaly or lymphadenopathy. Subsequently, the bone marrow biopsy showed markedly sclerotic bony trabeculae and a hypercellular marrow with marked fibrosis and intervening sheets of immature myeloid cells consistent with myeloblasts with monocytic differentiation. Importantly, these myeloblasts were negative for megakaryocytic markers (CD61 and vWF), erythroid markers (hemoglobin and E-cadherin), and lymphoid markers (CD3, CD19, and TdT). Metaphase cytogenetics showed an isolated triosomy 19 with no JAK2 V617F mutation. The patient was treated with induction chemotherapy followed by allogenic hematopoietic stem cell transplantation which subsequently resulted in a rapid resolution of bone marrow fibrosis, suggesting graft-anti-fibrosis effect. This is a rare case of a non-megakaryoblastic acute myeloid leukemia with myelofibrosis and osteosclerosis with trisomy 19 that may provide insights into the prognosis and therapeutic options of future cases.
Primary Effusion Lymphoma (PEL) is a unique immunodeficiency-associated malignancy that requires infection with Kaposi sarcoma herpesvirus/human herpesvirus 8 (KSHV/HHV8). Although thought to arise from mature B-lymphocytes, PEL typically has a null Immunophenotype but can very rarely show lineage specific aberrancies, including aberrant T-cell markers.Here we present one such case of PEL where aberrant T-cell markers led to a misdiagnosis of peripheral T-cell lymphoma. We performed a review of the literature to identify similar cases of PEL with strong T-cell antigen expression. Most cases occurred in men who were HIV positive or otherwise immunodeficient. Many were EBV positive. Rare cases demonstrated T-cell receptor gene rearrangements. Postulated theories for the cause of disordered differentiation include immunodeficiency and/or EBV infection. The expression of T-cell antigens on PELs may be a source for error in diagnosis and awareness of this correlation is of practical diagnostic relevance.
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