Acute leukemia with PICALM–MLLT10 fusion gene: diagnostic and treatment struggle

Savage, Natasha M.; Kota, Vamsi; Manaloor, Elizabeth; Kulharya, Anita S.; Pierini, Valentina; Mecucci, Cristina; Üstün, Celalettin

doi:10.1016/j.cancergencyto.2010.07.126

Cited by 26 publications

(27 citation statements)

References 12 publications

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“…Sporadic reports of CALM-AF10 in AML and T-ALL tended to suggest that this anomaly is associated with a poor prognosis. 16,17,[25][26][27][28][29] Overall, this fusion transcript had no prognostic impact in LALA/GRAALL-treated patients, in keeping with data showing no difference in EFS and OS of six CALM-AF10 incidence and outcome in T-ALL haematologica | 2013; 98(11) # at risk 141 87 57 35 21 1 7 6 4 3 3 0 33 23 13 8 3 2 9 5 2 2 1 0 141 107 71 44 25 15 7 7 6 3 3 0 33 26 16 11 3 2 9 7 4 2 1 0 CALM-AF10 + individuals among 214 adults with T-ALL treated on UKALLXII/ECOG2993 protocols. 7 …”

Section: Discussionmentioning

confidence: 99%

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The prognosis of CALM-AF10-positive adult T-cell acute lymphoblastic leukemias depends on the stage of maturation arrest

et al. 2013

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Section: Discussionmentioning

confidence: 99%

“…16,17,[25][26][27][28][29] Their overlap with ETP-ALL is also unknown. We, therefore, evaluated the incidence, clinical characteristics and biological features of adult and pediatric CALM-AF10 + T-ALL and, more specifically, the prognostic impact of CALM-AF10 relative to an ETP phenotype in adult T-ALL.…”

Section: Patients With Calm-af10mentioning

confidence: 99%

The prognosis of CALM-AF10-positive adult T-cell acute lymphoblastic leukemias depends on the stage of maturation arrest

et al. 2013

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“… In bold are alteration recurrently identified in ALL. ^ MLL PICALM-MLL T10 fusions are described to occur in acute leukemia with mixed phenotype and typically in patients with T/myeloid phenotype as in this case 51 . # Mutations in FANCE are associated with Fanconi anemia 52 but to the best of our knowledge they have never been reported in MPAL. …”

Section: Figurementioning

confidence: 94%

“… ^ MLL PICALM-MLL T10 fusions are described to occur in acute leukemia with mixed phenotype and typically in patients with T/myeloid phenotype as in this case 51 . …”

Section: Figurementioning

confidence: 94%

Allogeneic Hematopoietic Stem Cell Transplantation with Myeloablative Conditioning Is Associated with Favorable Outcomes in Mixed Phenotype Acute Leukemia

Getta

Roshal

Zheng

et al. 2017

Biology of Blood and Marrow Transplantation

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Mixed phenotype acute leukemia (MPAL) represents a poorly characterized group of acute leukemias that lack an accepted therapeutic approach and are typically associated with poor outcomes. We present our experience of genomic profiling, pre-transplant therapy and transplant outcomes for 36 well characterized pediatric and adult patients with MPAL defined according to the 2016 WHO leukemia update. A predominance of ALL-associated mutations and cytogenetic abnormalities was noted. Remission rates after induction appeared comparable among adults (20/23) and children (11/13) and among those who received ALL (10/11) or AML-type (21/25) induction. Adults were transplanted in first remission while children were transplanted in the setting of relapse or MLL rearrangement. The median follow-up among the 25 patients who underwent transplantation was 39.6 months and median OS was not reached. Relapse after transplant was associated with MLL rearrangement (p=0.022), reduced intensity (p<0.001), and higher WBC at diagnosis (p=0.034). These data highlight differing therapeutic approaches between adult and pediatric MPAL and demonstrate favorable survival of adult MPAL patients consolidated with allogeneic hematopoietic cell transplantation.

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“…All of these features were present in this case. A review of the literature revealed 5 cases of AML with the PICALM-MLLT10 fusion gene associated with a mediastinal mass [13,16,17]. In addition, 1 patient with an isolated MS displaying the t(10; 11)(p12;q21) died 5 months after diagnosis without ever progressing to bone marrow involvement [16].…”

Section: Discussionmentioning

confidence: 99%

Mediastinal Myeloid Sarcoma with TP53 Mutation Preceding Acute Myeloid Leukemia with a PICALM-MLLT10 Fusion Gene

Naesens¹,

Devos²,

Nollet³

et al. 2018

Acta Haematol

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Introduction: Myeloid sarcoma (MS), previously known as granulocytic sarcoma or chloroma, is a rare neoplastic condition defined as a tumor mass consisting of myeloblasts or immature myeloid cells occurring at an extramedullary site. Clinical presentation is diverse and determined by a tumor mass effect or local organ dysfunction. Case Report: We report the case of a 25-year-old previously healthy male with rapidly progressive shortness of breath. A chest CT scan demonstrated a heterogenous anterosuperior mediastinal mass with pleural and pericardial invasion. A diagnosis of MS with both myeloid and lymphoid characteristics was made by pathologic, morphologic, and immunophenotypic investigation. Next generation analysis revealed a pathogenic TP53 mutation (c.1035_1036insCT, p.Glu346Leufs*25). After 4 cycles of chemotherapy only a partial metabolic response and tumor size reduction was obtained. A pretransplant bone marrow biopsy revealed the progression of disease to acute myeloid leukemia. Cytogenetic analysis demonstrated a t(10; 11)(p12;q21). Fluorescence in situ hybridization confirmed the presence of a PICALM-MLLT10 fusion gene. Conclusion: MS with a mediastinal localization is rare and often misdiagnosed as malignant lymphoma. Acute leukemia harboring a PICALM-MLLT10 fusion gene is characterized by a mixed T cell and myeloid phenotype. The rearrangement is a rare recurrent translocation associated with specific clinical features, as illustrated in this case report.

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Acute leukemia with PICALM–MLLT10 fusion gene: diagnostic and treatment struggle

Cited by 26 publications

References 12 publications

The prognosis of CALM-AF10-positive adult T-cell acute lymphoblastic leukemias depends on the stage of maturation arrest

The prognosis of CALM-AF10-positive adult T-cell acute lymphoblastic leukemias depends on the stage of maturation arrest

Allogeneic Hematopoietic Stem Cell Transplantation with Myeloablative Conditioning Is Associated with Favorable Outcomes in Mixed Phenotype Acute Leukemia

Mediastinal Myeloid Sarcoma with TP53 Mutation Preceding Acute Myeloid Leukemia with a PICALM-MLLT10 Fusion Gene

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