Congenital immature pure erythroid leukemia with E-cadherin expression.

Congenital pure erythroid leukemia is exceedingly rare and poses a diagnostic challenge. We report an atypical case of congenital pure erythroid leukemia that did not express typical erythroid markers. The patient presented with a high white blood cell count with blastic cells at birth. Although flow cytometric analyses of peripheral blood and bone marrow showed a large CD45-negative cell population, we did not identify any evidence of monoclonality. While the circulating blasts decreased with only supportive care, hepatomegaly with multiple nodules was accompanied by liver failure, disseminated intravascular coagulation, and development of hemophagocytic lymphohistiocytosis. Pathological examination of the liver biopsy specimen revealed a small round cell tumor that was negative for nearly all hematopoietic cell markers, including classical erythroid cell markers, and positive for CD43, CD71, and E-cadherin, an early erythroid marker epithelial calcium-dependent adhesion protein, suggesting that these tumor cells originated from an immature erythroblast. We found high ß-catenin and c-Myc protein expression, which were not previously described in pure erythroid leukemia. Cytosine arabinoside temporarily alleviated clinical symptoms; however, the patient died of progressive disease at 8 months of age. This case indicates that E-cadherin is useful for diagnosing pure erythroid leukemia, even in immature cases.

Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

Congenital anerythremic erythroleukemia presenting as hepatic failure.

We report an atypical case of congenital erythroleukemia in a child born with hepatosplenomegaly and abnormal liver tests. The initial peripheral blood cell count showed anemia and hyperleukocytosis with erythroblastosis that disappeared 1 week later. During the next 5 weeks, no blasts were found in the blood, and less than 5% were found on 2 successive bone marrow aspirates. The infant died of hepatic failure. The suspected diagnosis on a premortem liver biopsy was confirmed by an autopsy that showed a blastic infiltration in many organs. These cells expressed only erythroid markers glycophorin A and C. Rearrangement of the myeloid lymphoid leukemia gene was not found by fluorescence in situ hybridization. The main differential diagnoses include metabolic diseases, Langerhans histiocytosis, Pepper syndrome, transient myeloproliferative disorder, and leukemoid reactions. Although some of these can be excluded by the pathologist, others require a multidisciplinary confrontation: clinical, biologic, genetic, and pathologic examinations.

Congenital erythroleukemia in a neonate with severe hypoxic ischemic encephalopathy.

We report a case of a neonate who presented with hypoxic ischemic encephalopathy, persistent hypoglycemia and hypotension, intractable metabolic acidosis, renal failure and a coagulopathy but who, at autopsy, was found to have massive infiltration of nonhematopoietic tissues with blasts. The diagnosis of congenital erythroleukemia was confirmed by the detection of glycophorin A, a major erythrocyte membrane protein, on the surface of the blasts. The clinical presentation and course of the case described here have not previously been reported for this extremely rare condition.

Congenital erythroleukemia: a case report with morphological, immunophenotypic, and cytogenetic findings.

We report a lethal case of congenital erythroleukemia presenting on the first day of life with peripheral blast cells and a leukemic infiltrate in the placenta. Although initial bone marrow examination did not fulfill the French-American-British (FAB) cooperative group criteria for acute myelogenous leukemia (AML), including M6, a malignant clone was confirmed by cytogenetic analysis: 49,XX, +8, +19, +21. Evolution to erythroleukemia (M6) occurred over a two-month period. The diagnosis of erythroleukemia was supported by immunophenotyping employing an antibody to glycophorin A. The clinical course was complicated by liver failure of unknown etiology. Comparison to previously reported cases of early childhood erythroleukemia is made.

Congenital erythroleukemia. A case report.

The disease of a four week old boy is described, which presented with papulous skin infiltrations, lethargy, anemia and bilateral testicular swelling. The investigation of bone marrow, cerebrospinal fluid and skin biopsy revealed infiltration by a leukemic process which could be identified by means of cytology and cytochemistry as erythroleukemia at the stage of erythremic myelosis. Death occurred 20 days after the onset of symptoms. Only one previous report of congenital erythroleukemia could be found in the literature. The findings are briefly discussed.