Novel chromosomal translocation (17;22)(q12;q12) in a case of myelodisplastic syndrome characterized with signs of hemolytic anemia at presentation

Impera, Luciana; Fekete, Marija Dencic; Djordjević, Vladimir; Storlazzi, Clelia Tiziana; Elezović, Ivo

doi:10.1016/j.gene.2011.11.002

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…Monosomy 7 is frequently reported in myeloid malignancies and is detected in previous CNL-cases who developed secondary AML ( 3 , 21 , 22 ). The translocation t(17;22)(q12;q12), which occurred in patient 4 during AML relapse, is associated with myelodysplastic syndrome (MDS) ( 23 ).…”

Section: Discussion and Review Of The Literaturementioning

confidence: 99%

Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management

Vermeersch

Delforge²,

Havelange³

et al. 2022

Front. Oncol.

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Chronic neutrophilic leukemia (CNL) is a rare but potentially aggressive BCR::ABL1 negative myeloproliferative neoplasm, characterized by sustained mature, neutrophilic leukocytosis. The discovery of key driver mutations in the colony-stimulating-factor-3 receptor (CSF3R) gene resulted in the updated World Health Organization (WHO) diagnostic criteria in 2016. A significant number of CNL cases have been associated with plasma cell dyscrasias, predominantly multiple myeloma (MM) and monoclonal gammopathy of unknown significance (MGUS). Compared to pure CNL, mutated CSF3R is infrequently reported in CNL cases associated with monoclonal gammopathies (MG). Until now it remains unclear whether CNL and occurring plasma cell neoplasms are clonally related or CNL is developing secondary to the underlying dyscrasia. Owing to its rarity, currently no standard of care management exists for CNL and MG-associated CNL. In this case series we report the multi-center experience of five MG-associated CNL cases with a median age of diagnosis of 69 years. Three patients (66%) showed predominance of lambda light chain expression. Four (80%) eventually evolved to MM, and one CNL-MGUS patient developed secondary acute myeloid leukemia (AML). Mutated CSF3R was present in the patient who developed AML but was absent in other cases. To assess possible associated genetic aberrations we performed recurrent analysis with next-generation sequencing (NGS). Two patients (40%) deceased with a median time of survival of 8 years after CNL diagnosis. Three (60%) are currently in follow-up with no reoccurring leukocytosis. This case series, followed by a short review, provides a long-term clinical and genetic overview of five CNL cases associated with MG.

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Section: Discussion and Review Of The Literaturementioning

confidence: 99%

Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management

Vermeersch

Delforge²,

Havelange³

et al. 2022

Front. Oncol.

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An unusual association of paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, and diffuse large B-cell non-Hodgkin lymphoma in a Caucasian man

et al. 2016

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A Case of Myelodysplastic Syndrome Characterized by Hemolytic Anemia at Presentation

Kim

2016

Lab Med Online

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A man aged 78 yr with no history of chemotherapy or toxic exposure presented with a history of dyspnea and intermittent red urine for 3 months and several years, respectively. Hematologic data at admission were as follows: hemoglobin, 65 g/L; white blood cell count, 4.05×10 9 /L; platelet count, 96×10 9 /L; and reticulocyte count, 10.9%. A peripheral blood smear revealed polychromasia, nucleated red blood cells, and neutrophils with a non-lobulated nucleus. The bone marrow was hypercellular and exhibited an increase in erythroid precursors with trilineage dysplasia and our findings were suggestive of refractory cytopenia with multilineage dysplasia (RCMD). Karyotype of bone marrow cells was as follows: 45,XY,der(9;17)(p10;q10),add (18)(q11.2)[ 10 ]/45,idem,del(3)(q21) [ 10 ]. Other laboratory findings showed decreased serum haptoglobin, increased lactate dehydrogenase, and increased indirect bilirubin levels. Moreover, results of the direct/indirect antiglobulin test (Coombs' test) and paroxysmal nocturnal hemoglobinuria analysis with CD55, CD59, fluorescent aerolysin (FLAER), and CD24 were negative. Cold agglutinin and Donath-Landsteiner antibodies were not detected. This is a case of myelodysplastic syndrome (MDS) associated with hemolytic anemia and complex chromosomal abnormalities at presentation.

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Novel chromosomal translocation (17;22)(q12;q12) in a case of myelodisplastic syndrome characterized with signs of hemolytic anemia at presentation

Cited by 3 publications

References 19 publications

Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management

Case report: Chronic neutrophilic leukemia associated with monoclonal gammopathies. A case series and review of genetic characteristics and practical management

An unusual association of paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, and diffuse large B-cell non-Hodgkin lymphoma in a Caucasian man

A Case of Myelodysplastic Syndrome Characterized by Hemolytic Anemia at Presentation

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