The Cytogenetics of Hematologic Neoplasms

Meloni‐Ehrig, Aurelia

doi:10.1007/978-1-4419-1688-4_15

Cited by 2 publications

(3 citation statements)

References 451 publications

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“…This patient has two trisomy 8 and 13 genetic mutations that give a reserved prognosis. Trisomy 8 has been found, in a few cases, in patients with T cell NHL or B cell NHL (B-CLL, DLBCL, follicular or mantle cell NHL) [ 14 , 15 ]. It has also been identified in patients diagnosed with MDS or MPNs.…”

Section: Discussionmentioning

confidence: 99%

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Coexistence of Trisomy 8 and 13 in a Newly Diagnosed Patient With Diffuse Large B Cell Non-Hodgkin Lymphoma and Acute Myeloid Leukemia Secondary to Primary Myelofibrosis

Bumbea¹,

Popov²,

Tomuleasa³

et al. 2022

Cureus

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Concomitant diagnosis of non-Hodgkin lymphoma (NHL) and acute myeloid leukemia secondary to chronic myeloproliferative neoplasms (MPNs) is rarely reported. Patients with MPNs may have a second neoplasm, and the risk of lymphoid line neoplasms is 2.5-3.5 times for lymphoid line neoplasms. The explanation for this association is the genetic instability of hematopoietic progenitors in MPNs. An 80-year-old Caucasian man, with many comorbidities, presents for physical asthenia, sweating. The right inguinal adenopathy was known one month before the examination. The patient was diagnosed concomitantly with diffuse large B cell lymphoma (DLBCL) and acute myeloid leukemia (AML) secondary to primary myelofibrosis (PMF) and presented trisomy 8, trisomy 13, and triple-negative PMF status. The patient initially received two well-tolerated R mini CHOP series. This type of treatment was selected to treat DLBCL for one unfit patient for intensive chemotherapy due to his age and comorbidities. R mini CHOP administration was followed by severe aplasia that lasted approximately two weeks followed by severe thrombocytosis that reached 4000 x109/L, and Thromboreductin recommendation was mandatory. The result of the treatment was a partial response but with severe adverse events like neutropenia G4, due to the delay of the treatment the patient lost the response. It was mandatory to select another treatment line and the chosen was venetoclax; it was selected for the simultaneous treatment of DLBCL and the underlying AML. It was obtained a significant reduction in the size of the inguinal lymph node block in two weeks of treatment. Severe neutropenia was diagnosed and complicated with sepsis. The evolution is unfavorable with the installation of multiple organ dysfunction. The presence of a complex karyotype (trisomy 8, trisomy 13) in a patient with myeloid metaplasia with triple-negative PMF was associated with blast transformation and severe thrombocytosis. The patient was diagnosed concomitantly with DLBCL, making the therapeutic decision difficult. Venetoclax has been shown to be useful in the treatment of DLBCL but has been associated with severe neutropenia, which has led to infectious complications.

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Section: Discussionmentioning

confidence: 99%

“…The unique presence of trisomy 8+ in MDS patients indicates the presence of an intermediate prognosis. However, the association with other anomalies determines the inclusion of the patient in the category of unfavorable prognosis [ 15 ]. In our patient, trisomy 8 was associated with trisomy 13, a less common cytogenetic abnormality.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of Trisomy 8 and 13 in a Newly Diagnosed Patient With Diffuse Large B Cell Non-Hodgkin Lymphoma and Acute Myeloid Leukemia Secondary to Primary Myelofibrosis

Bumbea¹,

Popov²,

Tomuleasa³

et al. 2022

Cureus

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“…Chromosomal translocations involving the immunoglobulin heavy chain gene ( IGH ), located on 14q32, are associated with various mature B-cell neoplasms, and result in enhanced expression of the translocation partner genes by physical juxtaposition with enhancers within the IGH locus [ 1 , 2 ]. Of interest, IGH translocations that give rise to fusions with various partner genes have also been reported in approximately 2-3% of B-cell precursor acute lymphoblastic leukemia (B-ALL) [ 3 , 4 , 5 ].…”

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confidence: 99%

Submicroscopic Deletions of Immunoglobulin Heavy Chain Gene (IGH) in Precursor B Lymphoblastic Leukemia withIGHRearrangements

et al. 2015

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Translocations leading to fusions between the immunoglobulin heavy chain gene (IGH) and various partner genes have been reported in B-cell precursor acute lymphoblastic leukemia (B-ALL). However, submicroscopic deletions within IGH in B-ALL have not been rigorously assessed. In this study, we investigated characteristics of IGH submicroscopic deletions, by FISH, in B-ALL with IGH rearrangements. FISH was performed by using commercially available IGH dual-color break-apart rearrangement probes (Abbott/Vysis, Downers Grove, IL, USA; Kreatech, Amsterdam, Netherlands). The study group included seven B-ALL patients with IGH rearrangements, observed by FISH. Among them, two exhibited deletion of the 5' variable region of IGH by FISH. The B-ALL in these two patients included two kinds of abnormal cells; one had an IGH rearrangement without any IGH submicroscopic deletion, while the other had an IGH submicroscopic deletion, which showed that one normal fusion signal and one 3' IGH signal were detected. Thus, submicroscopic deletion of the IGH 5' variable region may have occurred in either the native or rearranged chromosome 14. These findings indicate that B-ALL with IGH rearrangements may be accompanied by submicroscopic deletions of the IGH 5' variable region, which can be detected by FISH. The clinical significance of such deletions is unclear, but the loss of part of the IGH gene in B-ALL warrants further study.

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The Cytogenetics of Hematologic Neoplasms

Cited by 2 publications

References 451 publications

Coexistence of Trisomy 8 and 13 in a Newly Diagnosed Patient With Diffuse Large B Cell Non-Hodgkin Lymphoma and Acute Myeloid Leukemia Secondary to Primary Myelofibrosis

Coexistence of Trisomy 8 and 13 in a Newly Diagnosed Patient With Diffuse Large B Cell Non-Hodgkin Lymphoma and Acute Myeloid Leukemia Secondary to Primary Myelofibrosis

Submicroscopic Deletions of Immunoglobulin Heavy Chain Gene (IGH) in Precursor B Lymphoblastic Leukemia withIGHRearrangements

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