Malignant histiocytosis. Clinical and cytogenetic studies in a newborn and a child

Abstract

Malignant histiocytosis (MH) was diagnosed on the cytologic and cytochemical features of the malignant cells present in bone marrow smears from an infant and a child. The diagnosis of MH was confirmed by light and electron microscopic studies on bone marrow and skin biopsy specimens, and bone marrow and liver biopsy specimens, respectively. Both patients showed a deterioration while receiving prednisone monotherapy, but they responded well to a combination of vincristine and cyclophosphamide. The infant has remained disease‐free for 52+ months now, but the child died of a relapse 11 months after diagnosis. Cytogenetic studies of blood and/or bone marrow cells were performed before treatment. In the infant, a pathologic cell line with a translocation t(8;16)(p11;p13) was found; this abnormality was no longer present after remission was obtained. In the second patient, a hyperdiploid cell line with major karyotypic anomalies was found. When studied in relapse and shortly before death, additional chromosomal abnormalities were seen. The data from this study show that prednisone should be used with caution in MH, and that it should be omitted from combination chemotherapy when adverse effects are noted during short‐term monotherapy. Also, cytogenetic studies should be performed more often in MH to determine the significance and possible nonrandomness of chromosomal abnormalities in this disease.

t(8;16)(p11;p13) predisposes to a transient but potentially recurring neonatal leukemia

“…We report the spontaneous remission of a case of neonatal leukemia with t(8;16)(p11.2;p13.3). A literature review showed that t(8;16)(p11;p13) has been reported in 6 patients with leukemia and 1 patient with aleukemic cutaneous myeloid sarcoma at birth or during the neonatal period [3,4,[9][10][11][12][13] (Table 4). There was a male predominance (male/female ratio, 5:2).…”

Comparison between Karyotyping-FISH-Reverse Transcription PCR and RNA- Sequencing-Fusion Gene Identification Programs in the Detection of KAT6A-CREBBP in Acute Myeloid Leukemia

“…46,XY,add(1)(p13),t(8;21)(p11;q22),der(16)t(1;16)(p13;p13)[9]/46,XY[1] (Figure 2A). Four months after diagnosis the bone marrow karyotype was: 47,Y,t(X;17)(p10;q10),der(1)(1qter->1q12::1p22->1q12::5q15->5qter),add(1)(p13),inv(2)(p21q13),der(5)t(1;5)(p22;q15), t(12;18)(q15;q21),+8,t(8;21)(p11;q22),del(13)(q21q31),der(16)t(1;16)(p13;p13)[5]/46,XY[11].…”

“…The chromosome aberration t(8;16)(p11;p13) was first described in 1983 in an infant in whom the leukemic cells displayed prominent hemophagocytosis [1]. The recurrence of t(8;16)(p11;p13) in acute myeloid leukemia (AML) was independently established in 1987 by three groups.…”

“…The diagnostic karyotype was 46,XY,add(1)(p13),t(8;21)(p11;q22),der(16)t(1;16)(p13;p13)[9]/46,XY[1]; thus, no direct confirmation of the suspicion could be given although both 8p11 and 16p13 seemed to be rearranged. The leukemic cells were examined in two ways to find out whether a cryptic KAT6A - CREBBP was present.…”

Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Münster AML-study group

“…17,18,27 The series was supplemented with cases previously reported in the literature. [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][21][22][23][25][26][27][28] Where possible, we contacted the authors to provide missing data and material. Archive cases from the literature were only included when a well-documented cytogenetic report and clinical data were available.…”