Trisomy 19 and T(9;22) In a Patient with Acute Basophilic Leukemia

Rojas-Atencio, Alicia; Urdaneta, Karelis; Soto-Quintana, Marisol; Nava, Francisco Alvarez; Cañizales, Jenny; Solís, Ernesto

doi:10.1155/2011/269491

Cited by 3 publications

(4 citation statements)

References 18 publications

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“…[16][17][18][19][20] However, other myeloid neoplasms, such as MDS and MPN, may also transform into a secondary basophilic leukemia. [21][22][23][24][25] In patients with CML, the question remains whether the condition should indeed be called secondary basophilic leukemia of CML. In fact, based on the WHO definition, these patients are suffering from accelerated phase CML (when basophils are ⩾20%; and also even when basophils exceed 40%).…”

Section: Proposed Diagnostic Criteria and Classification Of Basophilic Leukemiasmentioning

confidence: 99%

“…[16][17][18][19][20] A massive expansion of basophils is sometimes also observed in patients with advanced myelodysplastic syndromes (MDS), JAK2-mutated MPN, MDS/MPN overlap diseases and less frequently in patients with acute myeloid leukemia (AML). [21][22][23][24][25] Basophilic leukemias have also been described, but are rare and are not well defined. In many cases, a pre-existing underlying CML is detected.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Proposed diagnostic criteria and classification of basophilic leukemias and related disorders

et al. 2017

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Basophils form a distinct cell lineage within the hematopoietic cell family. In various myeloid neoplasms, including chronic myeloid leukemia, basophilia is frequently seen. Acute and chronic basophilic leukemias, albeit rare, have also been described. However, no generally accepted criteria and classification of basophilic leukemias have been presented to date. To address this unmet need, a series of Working Conferences and other meetings were organized between March 2015 and March 2016. The current article provides a summary of consensus statements from these meetings, together with proposed criteria to delineate acute basophilic leukemia (ABL) from chronic basophilic leukemia (CBL) and primary forms of the disease where no preceding myeloid malignancy is detected, from the more common 'secondary' variants. Moreover, the term hyperbasophilia (HB) is proposed for cases with a persistent peripheral basophil count ⩾1000 per μl of blood. This condition, HB, is highly indicative of the presence of an underlying myeloid neoplasm. Therefore, HB is an important checkpoint in the diagnostic algorithm and requires a detailed hematologic investigation. In these patients, an underlying myeloid malignancy is often found and is then labeled with the appendix -baso, whereas primary cases of ABL or CBL are very rare. The criteria and classification proposed in this article should facilitate the diagnosis and management of patients with unexplained basophilia and basophil neoplasms in routine practice, and in clinical studies.

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Section: Proposed Diagnostic Criteria and Classification Of Basophilic Leukemiasmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Proposed diagnostic criteria and classification of basophilic leukemias and related disorders

et al. 2017

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“…Additional chromosomal abnormalities are reported in 5% 10% of cases, including double Ph, trisomy 8, isometric 8, isochromosome 17, and isometrics of chromosomes 19 and 20. 5,6 Our case was first diagnosed with CML in the chronic phase in January 2018 and was treated with Imatinib at a daily dose of 400mg. He visited our hospital in February 2022, when bone marrow biopsy demonstrated progression to ABL, and chromosome genetic analysis revealed a complex karyotype 48,XY, +8, i (17)(q10), and der(22)t(9; 22).…”

Section: Discussionmentioning

confidence: 99%

Acute Basophilic Leukemia Arising from Chronic Myeloid Leukemia with +8, I(17q)(q10) and der(22)t(9;22) After Imatinib Therapy

Shan,

Dong,

2023

JBM

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Acute basophilic leukemia (ABL) arising from chronic myeloid leukemia (CML) with abundant mast cells (MCs), coexisting with a complex karyotype is rare. Here, we report an 81-year-old man admitted to our hospital with a history of ABL. He was diagnosed with CML in the chronic phase in January 2018, and Imatinib was used at a daily dose of 400mg. Then, transformation to ABL with abundant MCs in the bone marrow and complex karyotypes including 48,XY, trisomy 8 (+8), isochromosome 17(q10) [i(17)(q10)], and derivative chromosome 22 t(9;22) [der(22)t(9;22)] were discovered simultaneously in January 2022. In conclusion, the increased number of MCs in our case is a reminder that they might play an important role in the prognosis of CML and trigger the development of complex karyotypes. Moreover, this is the first case report of ABL arising from CML with abundant MCs, coexisting with 48,XY, +8, i(17)(q10), and der(22)t(9;22), during Imatinib treatment. Further studies are needed to better characterize this rare condition.

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“…However, the case had no history of CML and had distinct features of basophilic leukemia. Therefore, it was determined that this case represented a basophilic leukemia with a t(9;22) and not just a sequela of CML [ 8 ]. Similarly, our reported case of MCL with a t(9;22) may represent a distinct form of MCL as opposed to an AML/CML evolution.…”

Section: Discussionmentioning

confidence: 99%

Myelodysplasia and Mast Cell Leukemia with t(9;22)

Lago

Shupe

Hannah

et al. 2017

Case Reports in Oncological Medicine

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Introduction Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation. Case Report An 80-year-old female presented with pancytopenia and was diagnosed with MDS. Over time, she required hospitalizations for platelet transfusions with increased frequency. She developed fatigue and weakness along with gastrointestinal symptoms. On exam, she had diffuse abdominal tenderness and a maculopapular rash. Her lab results revealed a new basophilia. A bone marrow biopsy showed 100% cellularity with many aggregates of mast cells. Chromosomal analysis showed t(9;22) with confirmed BCR/ABL1 fusion by fluorescence in situ hybridization (FISH). Discussion MCL has a poor prognosis due to the aggressive nature of the disease and ineffective therapies. Translocation (9;22) is known to be associated with MDS transformations to acute leukemia; however, this translocation has never been reported in MCL. Further research on the relationship between t(9;22) and MCL could lead to development of improved therapeutic options.

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Trisomy 19 and T(9;22) In a Patient with Acute Basophilic Leukemia

Cited by 3 publications

References 18 publications

Proposed diagnostic criteria and classification of basophilic leukemias and related disorders

Proposed diagnostic criteria and classification of basophilic leukemias and related disorders

Acute Basophilic Leukemia Arising from Chronic Myeloid Leukemia with +8, I(17q)(q10) and der(22)t(9;22) After Imatinib Therapy

Myelodysplasia and Mast Cell Leukemia with t(9;22)

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