Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Kim, Juwon; Park, Tae Sung; Song, Jaewoo; Lee, Kyung A.; Lee, Sang-Guk; Cheong, June Won; Choi, Jong Rak

doi:10.3343/kjlm.2008.28.4.262

Cited by 7 publications

(3 citation statements)

References 19 publications

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“…Although trisomy 8 is one the most common chromosomal abnormalities observed in hematological malignancies (4), polysomy 8 is a rare, non-random numerical abnormality associated with myeloid malignancies such as acute myelod leukemia (AML), myelodysplastic syndromes (MDS) and rarely myeloproliferative disorders (MPDs) (4,5). Tetrasomy 8 is the most common of the polysomies, first described in AML in 1987 (6).…”

Section: Discussionmentioning

confidence: 99%

Polysomy 8 Syndrome: A Distinct Clinical Entity Comprising of Myelomonocytic/Monocytic Lineage Involvement in Acute Leukemia

Yüce¹,

Yüksel²,

Pehlivan³

et al. 2019

J Basic Clin Health Sci

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Purpose: Cytogenetic abnormalities have been proven to be among the most valuable prognostic indicators in leukemia, allowing the stratification of patients in risk groups. We describe a patient diagnosed as AML-M5, with myeloid sarcoma and tetrasomy 8 as the sole chromosomal abnormality. We confirm that the presence of polysomy 8 in myeloid lineage malignancies is associated with a distinct clinical entity comprising of myelomonocytic/monocytic lineage involvement, poor prognosis and high incidence of myeloid sarcoma. In aim to obtain a detailed description of this clinical entity, literature of polysomy 8 cases has been reviewed. Methods: Cytogenetic analysis was performed on bone marrow samples directly after aspiration and following 24 h short term culture. Fluorescence in situ hybridization (FISH) analyses were performed at complete remission stage on interphase nuclei from bone marrow. Results: Cytogenetic analyses revealed tetrasomy 8 as the sole karyotipic change in all metaphases. The presence of tetrasomy was confirmed with C-MYC (8q24), AML1/ETO (ETO-8q21) and chromosome 8 centromeric probe cocktail. Conclusion: Recognition of the polysomy 8 syndrome will allow for the development of a standardized approach to these patients; as well as stimulating further research into the biology of the disorder that will allow for the development of better therapeutic strategies.

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Section: Discussionmentioning

confidence: 99%

Polysomy 8 Syndrome: A Distinct Clinical Entity Comprising of Myelomonocytic/Monocytic Lineage Involvement in Acute Leukemia

Yüce¹,

Yüksel²,

Pehlivan³

et al. 2019

J Basic Clin Health Sci

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“…However, some genes that might be involved in leukemogenesis on chromosome 8 are the following: MYC in 8q24, MOS in 8q22, and RUNX1T1 [9, 10]. These should be considered as potential causes of malignant transformation but further studies are required to prove this and the mechanisms involved with the malignant transformation [11].…”

Section: Discussionmentioning

confidence: 99%

Tetrasomy 8 Associated with a Poor Prognosis in Acute Monoblastic Leukemia: A Case Report

Farag

Morcus

Ramachandran

et al. 2019

Cureus

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We report a case of a 47-year-old male from West Africa who presented with sepsis and was found to have acute monoblastic leukemia associated with tetrasomy 8 detected on bone marrow samples. This was the only chromosomal abnormality found. Tetrasomy 8 is a rare genetic finding that has been reported in acute myeloid leukemia (AML), predominantly the monocytic lineage. It carries a poor prognosis with a high mortality rate.

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“…The specific cytogenetic finding of complete or partial tetrasomy 8 (four or more copies), however, portends a worse outcome, with a survival reported between 6 and 8 months despite the use of anthracyclinebased chemotherapy [2,3]. Tetrasomy 8 has rarely been reported in AML, but, when present, is usually the sole cytogenetic abnormality seen associated with monocytic variants [2][3][4][5]. Interestingly, leukemic cells carrying tetrasomy 8 have also shown a background of trisomy 8, suggesting a biological relationship (i.e.…”

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confidence: 99%

Extramedullary relapse of acute myeloid leukemia in a surgical wound

Mazzaglia

Strenger

Castillo

2010

Leukemia & Lymphoma

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A 52-year-old woman diagnosed with Graves' thyroiditis 2 years previously was evaluated for surgical management due to medical non-compliance and a reluctance to pursue radioiodine ablation. A routine complete blood count (CBC) was within normal limits. There was no history of head or neck irradiation, and her family history was unknown, as she was adopted. She denied any bleeding or bruising difficulties. Thyroid ultrasound revealed a slightly heterogeneous gland without discrete nodules. There was no abnormal cervical adenopathy. Total thyroidectomy was performed, with some difficulty achieving hemostasis after the specimen was removed from the field. She was discharged on the first postoperative day, but had to be seen in the office on postoperative day 2 because of a large ecchymotic area around the incision. The wound edges had also separated. Pathology findings were consistent with Graves' disease without evidence of malignancy. On postoperative day 4 she was readmitted to the hospital for ongoing bleeding and pain at her thyroid incision. On admission, her platelet count was 79 6 10 9 /L and her white blood cell (WBC) count was 20.0 6 10 9 /L. Her platelet count continued to decrease, and the Hematology and Oncology service was consulted. Peripheral smear showed 35% blasts. Based on this finding, an acute leukemia was suspected. A bone marrow biopsy performed on postoperative day 6 demonstrated 70% cellularity with 82% blasts.Immunophenotyping by flow cytometry showed that blasts were positive for myeloperoxidase (MPO), CD33, CD15, CD36, CD64, and CD4 with minimal expression of CD14. Cytogenetic studies showed a karyotype 46,XX,i(8)(q10),der(22)t(8;22)(q13;q13) in 19 out of 20 metaphases. Based on the World Health Organization WHO classification of tumours of haematopoietic and lymphoid tissues, the patient was diagnosed with acute monoblastic leukemia. Induction chemotherapy was initiated with daunorobucin (60 mg/m 2 /day, days 1-3) and cytarabine (100 mg/ m 2 /day, days 1-7). On day 14 after induction chemotherapy, her bone marrow biopsy showed a cellularity of 15% with 2% blasts. Two weeks later, the patient was discharged in a stable condition. However, 2 weeks after discharge, she presented with an enlarging neck mass. On physical examination, she had developed an infiltrating irregular mass in the subcutaneous tissue beneath the thyroidectomy incision, which was painful and tender to palpation (Figure 1, upper). Ultrasound examination showed it to be very heterogeneous and hypervascular.A fine needle aspiration biopsy of the neck mass was performed. Morphologically, the cells resembled leukemic blasts. Immunohistochemistry showed positivity for CD45, CD15, CD4, and MPO. A computed tomography (CT) scan demonstrated a large anterior neck mass within the subcutaneous tissues, extending into the paratracheal space bilaterally without compression of the airways (Figure 1, lower). Prior to the procedure, her CBC was within normal limits, but in 48 h her white blood cell (WBC) count increased to 10.7 6 10 9...

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Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Cited by 7 publications

References 19 publications

Polysomy 8 Syndrome: A Distinct Clinical Entity Comprising of Myelomonocytic/Monocytic Lineage Involvement in Acute Leukemia

Polysomy 8 Syndrome: A Distinct Clinical Entity Comprising of Myelomonocytic/Monocytic Lineage Involvement in Acute Leukemia

Tetrasomy 8 Associated with a Poor Prognosis in Acute Monoblastic Leukemia: A Case Report

Extramedullary relapse of acute myeloid leukemia in a surgical wound

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