BACKGROUND: Blast transformation is a rare but well-recognized event in Philadelphia-negative myeloproliferative neoplasms associated with a poor prognosis. Secondary acute myeloid leukemias evolving from myeloproliferative neoplasms are characterized by a unique set of cytogenetic and molecular features distinct from de novo disease. t(8;21) (q22;q22.1); RUNX1::RUNX1T1, one of the most frequent cytogenetic abnormalities in de novo acute myeloid leukemia, is rarely observed in post-myeloproliferative neoplasm acute myeloid leukemia. Here we report a case of secondary acute myeloid leukemia with t(8;21) evolving from JAK2-mutated essential thrombocythemia.
METHODS: The patient was a 74-year-old Japanese woman who was referred because of thrombocytosis (platelets 1046 × 109/L). Bone marrow was hypercellular with increase of megakaryocytes. Chromosomal analysis presented normal karyotype and genetic test revealed JAK2 V617F mutation. She was diagnosed with essential thrombocythemia. Thrombocytosis had been well controlled by oral administration of hydroxyurea; 2 years after the initial diagnosis with ET, she presented with leukocytosis (white blood cells 14.0 × 109/L with 82% of blasts), anemia (hemoglobin 91 g/L), and thrombocytopenia (platelets 24 × 109/L). Bone marrow was hypercellular and filled with 80% of myeloperoxidase-positive blasts bearing Auer rods. Chromosomal analysis revealed t(8;21) (q22;q22.1) and flow cytometry presented positivity of CD 13, 19, 34, and 56. Molecular analysis showed the coexistence of RUNX1::RUNX1T1 chimeric transcript and heterozygous JAK2 V617F mutation in leukemic blasts. She was diagnosed with secondary acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 evolving from essential thrombocythemia. She was treated with combination chemotherapy with venetoclax and azacytidine. After the first cycle of the therapy, blasts disappeared from peripheral blood and decreased to 1.4% in bone marrow. After the chemotherapy, RUNX1::RUNX1T1 chimeric transcript disappeared, whereas mutation of JAK2 V617F was still present in peripheral leukocytes.
CONCLUSIONS: To our best knowledge, the present case is the first one with JAK2 mutation preceding the acquisition of t(8;21). Our result suggests that t(8;21); RUNX1::RUNX1T1 can be generated as a late event in the progression of JAK2-mutated myeloproliferative neoplasms. The case presented typical morphological and immunophenotypic features associated with t(8;21) acute myeloid leukemia.

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy. Trisomy 8p Syndrome is characterized by heterogenous phenotype, with the most frequent components to be cardiac malformation, developmental and intellectual delay. Its prenatal diagnosis is very rare due to the unspecific sonographic features of the affected fetuses. We present a very rare case of a fetus with multiple anomalies diagnosed during the second trimester whose genomic analysis revealed a 18p Deletion and 8p trisomy Syndrome. This is the first case where this combination of DNA mutations has been described prenatally and the second case in general. The presentation of this case, as well as the detailed review of all described cases, aim to expand the existing knowledge regarding this rare condition facilitating its diagnosis in the future.

Chromosomal translocation serves as a crucial diagnostic marker in the classification of acute myeloid leukemia. Among the most prevalent cytogenetic abnormalities is t(8;21)(q22;q22), typically associated with the FAB subtype AML-M2. On occasion, alternative forms of t(8;21) have been observed. This report presents a case of AML with RUNX1::RUNX1T1, wherein the karyotype revealed t(2;2;21;8)(p21;q37;q22;q22), representing the first instance of a variant t(8;21) involving both chromosomes 2. The combination of routine karyotype analysis and fluorescence in situ hybridization proves to be an effective method for identifying complex translocations of t(8;21).

Trisomy 8 syndrome, also known as \" Warkany syndrome type 2 \", was first reported in 1971. Complete trisomy 8 are mostly aborted spontaneouslyinthe first trimester. Trisomy 8 mosaicism (T8M), predominated in the current cases reported. Itisahighlyheterogeneous Chromosome disorder. We know little about its effects on fertility. In this case, a patient with T8M combined with phenylketonuria was diagnosed. She\'s mentally retarded. After evaluating the anatomy and function of the reproductive system, the patient conceived through preimplantationgenetictesting-intracytoplasmicsperminjection-embryotransfer (PGT-ICSI-ET) and obtained a healthy fetus, which is the first report. The study focuses on the maintenance of fertility in patients with T8M, the effects of phenylketonuria and genetic counseling.

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.
METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness.
RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3].
CONCLUSIONS: The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).

BACKGROUND: The goal was to study the role of the morphology, immunophenotype, karyotype and fusion gene expression in a patient with diagnosis of AML1-ETO positive acute myeloid leukemia.
METHODS: A case of AML1-ETO positive acute myeloid leukemia morphologically similar to chronic myelogenous leukemia was reported. The results of the morphology, immunophenotype, karyotype and fusion gene expression were analyzed by reviewing relevant literature.
RESULTS: The patient was a young boy, at the age of 13, with clinical manifestations of intermittent fatigue and fever. Blood routine: White blood cell 142.6 x 109/L, Red blood cell 0.89 x 1012/L, Hemoglobin 41 g/L, Platelet 23 x 109/L, primitive cells account for 5%. Bone marrow smear: Granulocyte system hyperplasia is obvious, visible at each stage, primitive cells account for 17%, eosinophils, basophils, and phagocytic blood cells were observed. Flow cytometry showed myeloid primitive cell population was 4.14%, immature and mature granulocytes cell population was 85.22%, and eosinophil cell population was 0.61%. The results showed that the proportion of myeloid primitive cell was high, the expression of CD34 was enhanced, the expression of CD117 was partially absent, the expression of CD38 was weakened, the expression of CD19 was weak, and a few cells expressed CD56, and the phenotype was abnormal. The proportion of granulocyte series increased and the nucleus shifted to the left. The proportion of erythroid series was decreased, and the expression of CD71 was weakened. The results of fusion gene showed AML1-ETO positive. Karyotype analysis showed clonogenic abnormality t(8;21)(q22;q22).
CONCLUSIONS: The peripheral blood and bone marrow images of patients with t(8;21)(q22;q22) AML1-ETO positive are the manifestations of chronic myelogenous leukemia, suggesting that cytogenetics and molecular genetics play an irreplaceable role in the diagnosis of acute myeloid leukemia, and the comprehensive diagnostic efficiency is significantly better than that of morphology.

BACKGROUND: The aim was to improve the understanding of an AML1/ETO positive child with acute myeloid leukemia with poor prognosis.
METHODS: A case of AML1/ETO positive child with acute myeloid leukemia with poor prognosis was reported. The bone marrow cell morphology, multi-parameter flow cytometry, cytogenetic or molecular genetic test results were analyzed by reviewing relevant literature.
RESULTS: The patient was a young girl with clinical manifestations of respiratory tract infection. Bone marrow smears showed that myeloid primordial cells accounted for 13%, some granulocyte cell bodies are enlarged, visible pathological phenomena such as cytoplasmic vacuoles, binuclear grains, ring rods, and pseudo pelgerhuet malformations were seen (Figure 1). Flow cytometry: abnormal myeloid original cells (12.33%), expression of CD34 and HLA - DR, CD38, CD56, part of the expression of CD117, weak expression of CD13, CD33, MPO, CD19, cCD79a (Figure 2). Chromosome karyotype analysis showed that the chromosome karyotype of peripheral blood was 46, XX, t(8;21)(q22;q22). The quantitative detection result of AML1/ETO fusion gene was 42.15%, and mutations of NRAS, ASXL2, TP53 and TET2 genes were detected by second-generation sequencing. Combined with the above results, AML1/ETO positive with acute myeloid leukemia was diagnosed.
CONCLUSIONS: Cytogenetics or molecular genetics is the gold standard for identification of positive AML1/ETO fusion gene. Morphological heterogeneity of AML1/ETO positive AML cells is large, which limits the morphological diagnosis of bone marrow cells to a certain extent, and the comprehensive diagnostic efficiency is significantly better than that of morphology. Leukemia fusion gene AML1/ETO refers to the fusion of AML1 gene located on human chromosome 21q22 and ETO gene 8q22, which is the most common fusion gene in acute myeloid leukemia (AML). This paper reports a case of an AML1/ETO positive child with acute myeloid leukemia with poor prognosis admitted to our hospital and reviews relevant literature.

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We had two cases of trisomy 8-positive myelodysplastic syndrome (MDS) with incomplete Behçet\'s disease (BD) in which the remissions of both diseases were maintained by allogeneic stem cell transplantation (allo-SCT). Among MDS with BD patients, sometimes it is difficult to control the symptoms of BD with standard therapies such as corticosteroids and tumor necrosis factor (TNF) inhibitors. Although there should be careful consideration regarding indications for transplantation, our two cases, in which refractory BD was completely controlled by allo-SCT, suggest that allo-SCT can be one of the treatment options for higher-risk MDS with BD patients.

MYC over-expression by immunohistochemistry (IHC) is utilised in routine pathology practice as a surrogate marker for MYC amplification, which plays a key oncogenic role in post-irradiation and chronic lymphedema-associated angiosarcoma. We present the case of a 32-year old male, who presented with high-grade angiosarcoma arising in a background of metastatic testicular teratoma. IHC for MYC showed strong nuclear expression in the angiosarcoma cells prompting the consideration of post-irradiation-induced angiosarcoma but our patient did not undergo radiotherapy. Fluorescence in-situ hybridization (FISH) excluded MYC amplification and instead showed Chromosome 8 polysomy, which accounted for the strong MYC IHC expression present, not previously described in the context of germ cell tumours. The occurrence of MYC over-expression due to polysomy illustrates a novel clinical scenario (angiosarcoma arising as somatic malignancy) where strong MYC IHC expression can be found in the absence of underlying amplification or prior radiotherapy exposure.