B-Acute Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Loghavi, Sanam; Kutok, Jeffery L.; Jorgensen, Jeffrey L.

doi:10.1309/ajcpan7bh5dnywzb

Cited by 58 publications

(60 citation statements)

References 116 publications

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“…In our study, four cases were TdT positive, approaching one-third of our case series. Two of our four cases of THL were TdT positive, a finding reported previously in only a single case 38 . The high proportion of TdT positive cases in our series is not representative of our patient population because we enriched our series with memorable cases (including outside cases and consult cases) that created a diagnostic challenge.…”

Section: Discussionsupporting

confidence: 77%

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Double- and triple-hit lymphomas can present with features suggestive of immaturity, including TdT expression, and create diagnostic challenges

Moench

Sachs

Aasen

et al. 2016

Leukemia & Lymphoma

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Double- and triple-hit lymphomas (DHL/THL) are aggressive B cell neoplasms characterized by translocation of MYC with concurrent BCL2 and/or BCL6 translocation. In this retrospective study from one institution, we report clinicopathologic features of 13 cases (9 DHL/4 THL). The median age was 59 years (range 30 to 74) and patients included 8 females and 5 males. Presentation included enlarging lymphadenopathy/masses (11 patients) and abnormal peripheral blood findings (2 patients). Features which raised the differential of an immature neoplasm included TdT positivity (4 cases, 2 THL/2 DHL); dim CD45 expression (7 cases), lack of CD20 (2 cases), or lack of surface immunoglobulin light chain (3 cases) by flow cytometry; and blastoid morphology (2 cases). We conclude that expression of TdT in a B cell lymphoma with mature features or expression of surface light chain in a case otherwise suggestive of B-lymphoblastic leukemia/lymphoma should prompt an expedited evaluation for DHL/THL.

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Section: Discussionsupporting

confidence: 77%

“…Rare cases of DHL with TdT positivity have been reported 2,4-6,10,33,37,38 , most with the morphology and immunophenotype of B-LBL, arising from or presenting concurrently with follicular lymphoma. In our study, four cases were TdT positive, approaching one-third of our case series.…”

Section: Discussionmentioning

confidence: 99%

Double- and triple-hit lymphomas can present with features suggestive of immaturity, including TdT expression, and create diagnostic challenges

Moench

Sachs

Aasen

et al. 2016

Leukemia & Lymphoma

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“…It was difficult to recognize the true incidence of cases of de novo acute B-ALL with MYC and BCL-2 rearrangements, and the reported cases so far are probably still overestimated as most of documented cases within this category either represent high-grade B-cell neoplasm with DH rearrangements and blastoid morphology but with mature phenotype [6,7] which are currently classified as high-grade B-cell neoplasm with MYC and BCL-2 gene rearrangements [1] or cases of Burkitt leukemia/lymphoma (with L3 morphology [8]) or cases with blastic transformation on top FL [9,10].…”

Section: Discussionmentioning

confidence: 99%

“…Cases with a well-documented true immature immunophenotype, positive for TdT and negative for surface light chains, are rare [4][5][6][7][8][9][10].…”

Section: Discussionmentioning

confidence: 99%

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De Novo Precursor B-Lymphoblastic Leukemia/Lymphoma With Double-Hit Gene Rearrangements (MYC/BCL-2) Presented With Spinal Cord Compression and Acquired Factor XIII Deficiency

et al. 2017

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Double-hit lymphomas (DHLs) are aggressive mature B-cell neoplasms associated with rearrangements involving MYC and B-cell lymphoma-2 (BCL-2). Such DH events are extremely rare in Bcell precursor acute lymphoblastic leukemia (B-ALL), especially in young adults. A 29-year-old male patient initially presented to emergency department with right mandibular mass of 2 months duration associated with intermittent fever. Laboratory workup revealed very high lactate dehydrogenase at 2,026.0 U/L. Peripheral blood revealed pancytopenia with many circulating blasts (about 77%). Bone marrow (BM) aspirate revealed infiltration with many small sized blasts of very high nucleocytoplasmic ratio, finely dispersed nuclear chromatin and prominent nucleoli. The BM biopsy reflected marked hypercellularity with diffuse replacement by sheets of blasts, positive for TdT, PAX-5, CD10, cMYC, BCL-2 and CD20 with Ki-67 > 90%. Flow cytometry on BM revealed a precursor B-immunophenotype (CD45 (dim), CD19, CD10, Tdt and CD20). The blasts are negative for cytoplasmic and surface IgM. Cytogenetics revealed complex karyotype: 46,XY,del(6)(q21q23),t(8;22)(q24.1;q11.2),t(14;18)(q32;q21)(20). A diagnosis of B-lymphoblastic leukemia/lymphoma with t(8;22) (q24.1;q11.2) and t(14;18)(q32;q21) was made. Fluorescent in situ hybridization (FISH) analysis revealed an abnormal hybridization signal pattern for CDKN2A probe, indicating biallelic (homozygous) deletion of the short arm of chromosome 9 (9p) in 94% of the cells analyzed. The patient had severe life-threatening bleeding despite of normal prothrombin time (PT) and activated partial thromboplastin time (APTT) due to acquired factor XIII deficiency, an overlooked rare coagulopathy disorder. In addition, the patient developed acute sudden onset paraplegia, and magnetic resonance imaging (MRI) of spine showed acute cord compression which necessitated emergency radiotherapy after which chemotherapy was started on hyper-CVAD (hyperfractionated cyclophosphamide, vincristine, adriamycin, and dexamethasone) protocol. MRI showed dramatic resolution of the mass. Very few cases of B-ALL with DH rearrangement with true precursor B-cell phenotype (positivity for TdT with negativity for surface light chain) have been reported. Many of these had frequent central nervous system (CNS) involvement, with complex karyotypes, highly aggressive course, with short survival of less than 1 year. This case however showed very good response to treatment. In contrary to DHL, de novo B-ALL with double-hit rearrangements is more prevalent in pediatrics and young adults. Although most of reported cases represent transformation of follicular lymphoma, our patient's young age, acute onset and absent lymphadenopathies all support de novo ALL.

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Acute Lymphoblastic Leukaemia and Acute Leukaemia of Ambiguous Lineage

2017

Leukaemia Diagnosis

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B-Acute Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Abstract: The complexity and spectrum of cases presented in this review highlight the importance of clinicopathologic correlation and the value of ancillary studies in the classification and workup of patients with B-ALL/LBL.

Cited by 58 publications

References 116 publications

Double- and triple-hit lymphomas can present with features suggestive of immaturity, including TdT expression, and create diagnostic challenges

Double- and triple-hit lymphomas can present with features suggestive of immaturity, including TdT expression, and create diagnostic challenges

De Novo Precursor B-Lymphoblastic Leukemia/Lymphoma With Double-Hit Gene Rearrangements (MYC/BCL-2) Presented With Spinal Cord Compression and Acquired Factor XIII Deficiency

Acute Lymphoblastic Leukaemia and Acute Leukaemia of Ambiguous Lineage

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