The mechanism of bone marrow relapse in pediatric acute lymphoblastic leukemia has been deeply researched in recent years. The roles of hematopoietic stem cells, some gene abnormalities including IKZF1, JAK, CRLF2 and CREBBP, as well as mutation of genes influencing drug resistance have been confirmed to related with relapse of disease. The microRNAs, gene expression profile of patient, microenvironment of bone marrow including bone marrow fibrosis, mesenchymal stem cells and matrix metalloprotease, also play an important role in the process of leukemia recurrence. This article reviewed the details mentioned above.
Child ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; pathology ; Recurrence

Adolescent ; Humans ; Leukemia, Myeloid, Acute ; etiology ; pathology ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; pathology

OBJECTIVE: To analyze the flow immunophenotype and clinical characteristics of leukemia patients with positive SET-CAN fusion gene. METHODS: A total of 7 newly diagnosed acute leukemia patients with SET-CAN fusion gene admitted to Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology from February 2016 to February 2020 were collected. Multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) was used to detect the expression of SET-CAN fusion gene. The immunophenotype was detected by four-color flow cytometry. The case information of 17 literatures published at home and abroad was extracted for statistical analysis. RESULTS: Among the 7 patients, 2 cases were diagnosed as mixed phenotype acute leukemia (MPAL), 2 cases as acute myeloid leukemia (AML), and 3 cases as T-acute lymphoblastic leukemia (ALL)/lymphoblastic lymphoma (LBL). Leukemia cells in bone marrow specimens of all cases expressed or partially expressed CD34, CD33 and CD7. CD5 and cytoplasmic CD3 were expressed in 5 patients except 2 patients diagnosed with AML. Bone marrow and lymph node specimens were both detected in 2 patients, and the immunophenotypes of the two specimens were not completely consistent, with differences in lineage or maturity related markers. Two patients with MPAL showed differentiated response to treatment. One AML patient gave up treatment, and another AML patient with FLT3-ITD gene mutation had a poor prognosis. All three T-ALL/LBL patients maintained a long duration of remission after induced remission, and one case underwent allogeneic hematopoietic stem cell transplantation. CONCLUSIONS There are common characteristics of immunophenotype in patients with positive SET-CAN fusion gene. Differential expression of immunophenotype in samples from different parts is observed in some cases. The prognosis of these diseases varies.
Humans ; Leukemia, Myeloid, Acute/pathology* ; Bone Marrow/pathology* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Antigens, CD34 ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; Immunophenotyping

Extramedullary relapse of acute lymphoblastic leukemia (ALL) in the mastoid after allogeneic hematopoietic stem cell transplantation (allo-HSCT) is rare. In this paper, we describe such an uncommon case of extramedullary relapse of ALL in the mastoid. The patient, who had been diagnosed as having ALL and underwent an allo-HSCT from his matched sibling donor. Eight months after allo-HSCT, he presented with ear-ache, tinnitus. The middle ear mastoid CT revealed otomastoiditis. The patient underwent operation. After pathological examination, the definited diagnosis was made that the patient was extramedullary relapse of ALL in the mastoid. We should pay more attention to the patients with hemopathy, which can help to improve early diagnosis.
Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Mastoid ; pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; pathology ; therapy ; Recurrence

Humans ; Lymphoma ; Lymphoma, T-Cell ; Myeloproliferative Disorders/genetics* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology* ; T-Lymphocytes/pathology*

Child ; Choristoma ; Humans ; Male ; Neck ; pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Thymus Gland ; pathology ; Thymus Neoplasms

Adult ; Humans ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; pathology ; Skin Diseases ; etiology

Child ; Humans ; Kidney Diseases ; etiology ; pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; diagnosis

A seven months old male infant visited Severance Children's Hospital for evaluation of anterior mediastinal mass. With chest computed tomography (CT) image and biopsy, precursor T-cell lymphoblastic lymphoma was suspected but the ultrasonography guided biopsy specimen was insufficient to confirm the disease. Because there was a life-threatening risk to perform open biopsy to the small infant, we started chemotherapy empirically. The mass decreased, however, the lesion increased again and did not respond to the drugs. Finally we decided to resect the anterior mass with sternostomy and the pathology report finally resulted in thymoma.
Biopsy ; Drug Therapy ; Humans ; Infant ; Male ; Pathology ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; Thorax ; Thymoma ; Ultrasonography

BACKGROUND: Different criteria have been used to diagnose mixed-phenotype acute leukemia (MPAL), which has impacted the number of individuals diagnosed with this pathology. Better outcomes have been reported when using acute lymphoblastic leukemia (ALL)-type chemotherapy in the treatment of MPAL. METHODS: We compared the outcome of 4 groups of patients with MPAL. Group 1 included patients diagnosed using the 2008/2016 World Health Organization (WHO) classification; group 2 included patients diagnosed using the European Group for the Immunological Characterization of Leukemias (EGIL) criteria; group 3 included patients diagnosed using either the EGIL or the 2008/2016 WHO criteria; and group 4 was comprised of patients diagnosed with MPAL using the EGIL classification only. RESULTS: We found a significantly worse disease-free survival (groups 1-4) and overall survival (OS) (groups 2 and 3) when comparing MPAL patients to other acute leukemia (AL) patients. A significantly better OS was obtained in patients (groups 2-4) treated with ALL-type chemotherapy compared to acute myeloid leukemia (AML)-type regimens. CONCLUSION: In light of these results, and because a trend (P=0.06) was found with regard to a better OS in group 4 when compared to other AL patients, an argument can be made that the 2008/2016 WHO classification is underpowered to diagnose all MPAL cases, potentially resulting in the suboptimal treatment of some individuals with AL.
Classification* ; Disease-Free Survival ; Drug Therapy ; Humans ; Leukemia* ; Leukemia, Myeloid, Acute ; Pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; World Health Organization