Chronic basophilic leukemia: a rare form of chronic myeloproliferative neoplasm

Tang, Guilin; Woods, Lesley; Wang, Sa A.; Brettler, Doreen B.; Andersen, Mary; Miron, Patricia M.; Pechet, Liberto; Woda, Bruce A.; Hao, Suyang

doi:10.1016/j.humpath.2009.02.011

Cited by 18 publications

(26 citation statements)

References 16 publications

(17 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Literature review reveals 11 previous cases of myeloid neoplasm with ETV6-ACSL6 gene fusion confirmed by either FISH, RT-PCR, or next-generation sequencing (NGS) with targeted RNA-seq [ 2 – 8 ]. Several other cases of t(5;12) with eosinophilia or basophilia may represent additional cases but confirmatory testing was not performed [ 5 , 9 , 10 ]. Cases with ETV6-ACSL6 gene fusion are clinically aggressive, with mean survival from time of diagnosis of less than one year.…”

Section: Discussionmentioning

confidence: 99%

Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature

Luca-Johnson

Ninfea

Pearson

et al. 2016

Case Reports in Medicine

View full text Add to dashboard Cite

We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia. Review of the literature yielded a total of 11 previous cases. This gene fusion results in a t(5;12)(q31~33;p13) that mimics the t(5;12) found in ETV6-PDGFRB neoplasms. Identification of the fusion genes involved in t(5;12) in eosinophilia-associated myeloproliferative disorders is crucial to direct an effective treatment plan. In particular, while tyrosine kinase inhibitor therapy is effective in patients with PDGFRB rearrangement, there is little information on imatinib efficacy in patients with ETV6-ACSL6 gene fusion. Our patient was found to be nonresponsive to imatinib therapy.

show abstract

Section: Discussionmentioning

confidence: 99%

Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature

Luca-Johnson

Ninfea

Pearson

et al. 2016

Case Reports in Medicine

View full text Add to dashboard Cite

show abstract

“…Basophils in peripheral blood (PB) or tissues range in size from 10 to 15 µm and have nuclei that are purplish or dark blue and cytoplasmic granules of dark blue to purple and even blackish color as seen on Wright-stained PB and bone marrow (BM) smears [ 1 ]. A review of the international literature revealed 6 cases reported as primary chronic basophilic leukemia (CBL) [ 2 , 3 , 4 ] and 5 cases reported as chronic myeloid leukemia (CML) with transformation to CBL, as a secondary CBL [ 5 , 6 , 7 , 8 , 9 ]. The purpose of this review is to remind readers of the importance of diagnostic problems as automated blood cell counters (ABCCs) may not characterize cells as basophils in patients with primary and secondary CBL, but may simply flag them [ 3 , 4 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Problems In Chronic Basophilic Leukemia

Cehreli

2018

Tjh

View full text Add to dashboard Cite

Chronic basophilic leukemia (CBL) is an extremely rare type of leukemia. A literature review revealed six cases reported as primary CBL and five patients with secondary CBL. Patients with primary CBL may present with symptoms not related to leukemia. Dysplastic changes in peripheral blood and bone marrow were described and demonstrated in cases of primary and secondary CBL. The literature review also revealed that differential counts made by automated blood cell counters may not characterize cells as basophils in patients with primary and secondary CBL and may mislead physicians in making a differential diagnosis. For these reasons, laboratory studies for the diagnosis of CBL are required, including metachromatic staining by toluidine blue and antigen expressions by flow cytometric analysis, to detect the nature of the neoplastic cells as basophils for a reliable diagnosis of CBL. The literature review failed to reveal specific cytogenetic findings in patients with primary and secondary types of CBL.

show abstract

“…[9] However, recently the normal expression of CD45, CD123, CD13, CD33, CD119 and CD11b in a case of CBL were reported. [10]…”

Section: Discussionmentioning

confidence: 99%

“…[6] CBL is also shown to be associated with t(5;12)(q31;p13). [10] Interestingly, patients with the poorly defined entity, Ph-/BCR/ABL-atypical CML, have a significantly lower incidence of basophilia as compared with Ph+/BCR/ABL+ and Ph-/BCR/ABL+ CML. [34] In our case, the Ph’ chromosome was detected with conventional GTG-banding.…”

Section: Discussionmentioning

confidence: 99%

Deletion of ABL/BCR on der(9) associated with severe basophilia

Vaidya¹,

Madkaikar²,

Ghosh³

et al. 2011

Indian J Hum Genet

View full text Add to dashboard Cite

Chronic basophilic leukemia is a rare form in chronic myeloid leukemia patients. Only limited number of reports are available. Herein, we describe a patient who presented with fatigue, weight loss, leucocytosis, prominent basophilia, and mild eosinophilia. On biopsy, bone marrow was hypercellular with marked basophils. The immunophenotype showed abnormal expression of CD7, which is suggestive of basophilic maturation. Chromosomal analysis from GTG-banded metaphases revealed Ph positivity, and fluorescence in situ hybridization (FISH) with BCR/ABL dual color, dual fusion probe showed single fusion on the der(22) chromosome and ABL/BCR fusion was deleted on the der(9) chromosome. The deletion (ABL/BCR) on der(9) may be associated with basophilia which may be also indicative of the transformation of CML to acute myeloid leukemia.

show abstract

Chronic basophilic leukemia: a rare form of chronic myeloproliferative neoplasm

Cited by 18 publications

References 16 publications

Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature

Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature

Diagnostic Problems In Chronic Basophilic Leukemia

Deletion of ABL/BCR on der(9) associated with severe basophilia

Contact Info

Product

Resources

About