Acute erythroleukemia (FAB M6), a rare form of acute myeloid leukemia, consists of two subtypes: M6a-erythroid/myeloid leukemia and M6b-pure erythroid leukemia (PEL). The diagnosis of PEL is often difficult due to the negativity of classical erythroid cell markers. Recently, an epithelial calcium-dependent cell adhesion protein (E-cadherin) has been identified as a marker of immature erythroid precursors. Here, we report an elderly case of PEL in which E-cadherin positivity and strong P53 positivity were the key clues for diagnosis. The patient was treated with a daunomycin/Ara-C regimen followed by a venetoclax/azacitidine regimen but responded to neither treatment.
The association of OKT4 epitope deficiency and acute myeloblastic leukemia (M1 by FAB) in a 12-year-old girl is reported. The patient's peripheral lymphocytes lacked the antigen identified by the OKT4 monoclonal antibody, but showed normal OKT4A and Leu-3a reactivity. Functional studies of the lymphocytes revealed normal responses to mitogens, but slightly reduced helper T cell function. The patient responded well to antileukemia chemotherapy and has been in remission for 30 months. The possible link between OKT4 epitope deficiency and the pathogenesis of AML is discussed.
Summary Haemophagocytic lymphohistiocytosis (HLH) poses major therapeutic challenges, and the primary inherited form, familial haemophagocytic lymphohistiocytosis (FHL), is usually fatal. We evaluated, including Cox regression analysis, survival in 86 children (29 familial) that received HLH‐94‐therapy (etoposide, dexamethasone, ciclosporin) followed by allogeneic stem cell transplantation (SCT) between 1995 and 2000. The overall estimated 3‐year‐survival post‐SCT was 64% [confidence interval (CI) = ±10%] ( n = 86); 71 ± 18% in those patients with a matched related donor (MRD, n = 24), 70 ± 16% with a matched unrelated donor (MUD, n = 33), 50 ± 24% with a family haploidentical donor (haploidentical, n = 16), and 54 ± 27% with a mismatched unrelated donor (MMUD, n = 13). After adjustment for potential confounding factors, estimated odds ratios (OR) for mortality were 1·93 (CI =0·61–6·19) for MUD, 3·31 (1·02–10·76) for haploidentical, and 3·01 (0·91–9·97) for MMUD, compared with MRD. In children with active disease after 2‐months of therapy ( n = 43) the OR was 2·75 (1·26–5·99), compared with inactive disease ( n = 43). In children with active disease at SCT ( n = 37), the OR was 1·80 (0·80–4·06) compared with inactive disease ( n = 49), after adjustment for disease activity at 2‐months. Mortality was predominantly transplant‐related. Most HLH patients survived SCT using MRD or MUD, and survival with partially mismatched donors was also acceptable. Patients that responded well to initial pretransplant‐induction therapy fared best, but some persisting HLH activity should not automatically preclude performing SCT.
Neuroblastoma is the second most common solid tumor in children. Most tumors arise in the adrenal glands or paravertebral region. Rarely, patients present with metastatic disease but no primary site can be found despite extensive imaging. We report here a patient with a large periorbital bone metastasis and bone marrow involvement but with no known primary site.
