ABSTRACT
Objective: To investigate whether haplotype hematopoietic stem cell transplantation (haplo-HSCT) is effective in the treatment of pre transplant minimal residual disease (Pre-MRD) positive acute B lymphoblastic leukemia (B-ALL) compared with HLA- matched sibling donor transplantation (MSDT) . Methods: A total of 998 patients with B-ALL in complete remission pre-HSCT who either received haplo-HSCT (n=788) or underwent MSDT (n=210) were retrospectively analyzed. The pre-transplantation leukemia burden was evaluated according to Pre-MRD determinedusing multiparameter flow cytometry (MFC) . Results: Of these patients, 997 (99.9% ) achieved sustained, full donor chimerism. The 100-day cumulative incidences of neutrophil engraftment, platelet engraftment, and grades â ¡-â £ acute graft-versus-host disease (GVHD) were 99.9% (997/998) , 95.3% (951/998) , and 26.6% (95% CI 23.8% -29.4% ) , respectively. The 3-year cumulative incidence of total chronic GVHD was 49.1% (95% CI 45.7% -52.4% ) . The 3-year cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) of the 998 cases were 17.3% (95% CI 15.0% -19.7% ) and 13.8% (95% CI 11.6% -16.0% ) , respectively. The 3-year probabilities of leukemia-free survival (LFS) and overall survival (OS) were 69.1% (95% CI 66.1% -72.1% ) and 73.0% (95% CI 70.2% -75.8% ) , respectively. In the total patient group, cases with positive Pre-MRD (n=282) experienced significantly higher CIR than that of subjects with negative Pre-MRD [n=716, 31.6% (95% CI 25.8% -37.5% ) vs 14.3% (95% CI 11.4% -17.2% ) , P<0.001]. For patients in the positive Pre-MRD subgroup, cases treated with haplo-HSCT (n=219) had a lower 3-year CIR than that of cases who underwent MSDT [n=63, 27.2% (95% CI 21.0% -33.4% ) vs 47.0% (95% CI 33.8% -60.2% ) , P=0.002]. The total 998 cases were classified as five subgroups, including cases with negative Pre-MRD group (n=716) , cases with Pre-MRD<0.01% group (n=46) , cases with Pre-MRD 0.01% -<0.1% group (n=117) , cases with Pre-MRD 0.1% -<1% group (n=87) , and cases with Pre-MRD≥1% group (n=32) . For subjects in the Pre-MRD<0.01% group, haplo-HSCT (n=40) had a lower CIR than that of MSDT [n=6, 10.0% (95% CI 0.4% -19.6% ) vs 32.3% (95% CI 0% -69.9% ) , P=0.017]. For patients in the Pre-MRD 0.01% -<0.1% group, haplo-HSCT (n=81) also had a lower 3-year CIR than that of MSDT [n=36, 20.4% (95% CI 10.4% -30.4% ) vs 47.0% (95% CI 29.2% -64.8% ) , P=0.004]. In the other three subgroups, the 3-year CIR was comparable between patients who underwent haplo-HSCT and those received MSDT. A subgroup analysis of patients with Pre-MRD<0.1% (n=163) was performed, the results showed that cases received haplo-HSCT (n=121) experienced lower 3-year CIR [16.0% (95% CI 9.4% -22.7% ) vs 40.5% (95% CI 25.2% -55.8% ) , P<0.001], better 3-year LFS [78.2% (95% CI 70.6% -85.8% ) vs 47.6% (95% CI 32.2% -63.0% ) , P<0.001] and OS [80.5% (95% CI 73.1% -87.9% ) vs 54.6% (95% CI 39.2% -70.0% ) , P<0.001] than those of MSDT (n=42) , but comparable in 3-year NRM [5.8% (95% CI 1.6% -10.0% ) vs 11.9% (95% CI 2.0% -21.8% ) , P=0.188]. Multivariate analysis showed that haplo-HSCT was associated with lower CIR (HR=0.248, 95% CI 0.131-0.472, P<0.001) , and superior LFS (HR=0.275, 95% CI 0.157-0.483, P<0.001) and OS (HR=0.286, 95% CI 0.159-0.513, P<0.001) . Conclusion: Haplo HSCT has a survival advantage over MSDT in the treatment of B-ALL patients with pre MRD<0.1% .
Subject(s)
Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Leukemia, B-Cell , Leukemia, Lymphocytic, Chronic, B-Cell , Precursor Cell Lymphoblastic Leukemia-Lymphoma , B-Lymphocytes , HLA Antigens/genetics , Haplotypes , Hematopoietic Stem Cell Transplantation/adverse effects , Humans , Leukemia, B-Cell/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Neoplasm, Residual , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Recurrence , Retrospective Studies , SiblingsABSTRACT
BACKGROUND: The SARS-CoV-2 pandemic brought challenges to all areas of medicine. In pediatric bone marrow transplant (BMT), one of the biggest challenges was determining how and when to transplant patients infected with SARS-CoV-2 while mitigating the risks of COVID-related complications. METHODS: Our joint adult and pediatric BMT program developed protocols for performing BMT during the pandemic, including guidelines for screening and isolation. For patients who tested positive for SARS-CoV-2, the general recommendation was to delay BMT for at least 14 days from the start of infection and until symptoms improved and the patient twice tested negative by polymerase chain reaction (PCR). However, delaying BMT in patients with malignancy increases the risk of relapse. RESULTS: We opted to transplant two SARS-CoV-2 persistently PCR positive patients with leukemia at high risk of relapse. One patient passed away early post-BMT of a transplant-related complication. The other patient is currently in remission and doing well. CONCLUSION: These cases demonstrate that when the risk associated with delaying BMT is high, it may be reasonable to proceed to transplant in pediatric leukemia patients infected with SARS-CoV-2.
Subject(s)
COVID-19/complications , Hematopoietic Stem Cell Transplantation/methods , Leukemia, B-Cell/therapy , Leukemia, Myeloid, Acute/therapy , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/therapy , Adolescent , COVID-19/diagnosis , Fatal Outcome , Female , Humans , Infant , Leukemia, B-Cell/complications , Leukemia, Myeloid, Acute/complications , Male , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/complications , Time-to-TreatmentABSTRACT
Objective: To investigate whether haplotype hematopoietic stem cell transplantation (haplo-HSCT) is effective in the treatment of pre transplant minimal residual disease (Pre-MRD) positive acute B lymphoblastic leukemia (B-ALL) compared with HLA- matched sibling donor transplantation (MSDT) . Methods: A total of 998 patients with B-ALL in complete remission pre-HSCT who either received haplo-HSCT (n=788) or underwent MSDT (n=210) were retrospectively analyzed. The pre-transplantation leukemia burden was evaluated according to Pre-MRD determinedusing multiparameter flow cytometry (MFC) . Results: Of these patients, 997 (99.9% ) achieved sustained, full donor chimerism. The 100-day cumulative incidences of neutrophil engraftment, platelet engraftment, and grades Ⅱ-Ⅳ acute graft-versus-host disease (GVHD) were 99.9% (997/998) , 95.3% (951/998) , and 26.6% (95% CI 23.8% -29.4% ) , respectively. The 3-year cumulative incidence of total chronic GVHD was 49.1% (95% CI 45.7% -52.4% ) . The 3-year cumulative incidence of relapse (CIR) and non-relapse mortality (NRM) of the 998 cases were 17.3% (95% CI 15.0% -19.7% ) and 13.8% (95% CI 11.6% -16.0% ) , respectively. The 3-year probabilities of leukemia-free survival (LFS) and overall survival (OS) were 69.1% (95% CI 66.1% -72.1% ) and 73.0% (95% CI 70.2% -75.8% ) , respectively. In the total patient group, cases with positive Pre-MRD (n=282) experienced significantly higher CIR than that of subjects with negative Pre-MRD [n=716, 31.6% (95% CI 25.8% -37.5% ) vs 14.3% (95% CI 11.4% -17.2% ) , P<0.001]. For patients in the positive Pre-MRD subgroup, cases treated with haplo-HSCT (n=219) had a lower 3-year CIR than that of cases who underwent MSDT [n=63, 27.2% (95% CI 21.0% -33.4% ) vs 47.0% (95% CI 33.8% -60.2% ) , P=0.002]. The total 998 cases were classified as five subgroups, including cases with negative Pre-MRD group (n=716) , cases with Pre-MRD<0.01% group (n=46) , cases with Pre-MRD 0.01% -<0.1% group (n=117) , cases with Pre-MRD 0.1% -<1% group (n=87) , and cases with Pre-MRD≥1% group (n=32) . For subjects in the Pre-MRD<0.01% group, haplo-HSCT (n=40) had a lower CIR than that of MSDT [n=6, 10.0% (95% CI 0.4% -19.6% ) vs 32.3% (95% CI 0% -69.9% ) , P=0.017]. For patients in the Pre-MRD 0.01% -<0.1% group, haplo-HSCT (n=81) also had a lower 3-year CIR than that of MSDT [n=36, 20.4% (95% CI 10.4% -30.4% ) vs 47.0% (95% CI 29.2% -64.8% ) , P=0.004]. In the other three subgroups, the 3-year CIR was comparable between patients who underwent haplo-HSCT and those received MSDT. A subgroup analysis of patients with Pre-MRD<0.1% (n=163) was performed, the results showed that cases received haplo-HSCT (n=121) experienced lower 3-year CIR [16.0% (95% CI 9.4% -22.7% ) vs 40.5% (95% CI 25.2% -55.8% ) , P<0.001], better 3-year LFS [78.2% (95% CI 70.6% -85.8% ) vs 47.6% (95% CI 32.2% -63.0% ) , P<0.001] and OS [80.5% (95% CI 73.1% -87.9% ) vs 54.6% (95% CI 39.2% -70.0% ) , P<0.001] than those of MSDT (n=42) , but comparable in 3-year NRM [5.8% (95% CI 1.6% -10.0% ) vs 11.9% (95% CI 2.0% -21.8% ) , P=0.188]. Multivariate analysis showed that haplo-HSCT was associated with lower CIR (HR=0.248, 95% CI 0.131-0.472, P<0.001) , and superior LFS (HR=0.275, 95% CI 0.157-0.483, P<0.001) and OS (HR=0.286, 95% CI 0.159-0.513, P<0.001) . Conclusion: Haplo HSCT has a survival advantage over MSDT in the treatment of B-ALL patients with pre MRD<0.1% .
Subject(s)
Humans , B-Lymphocytes , Graft vs Host Disease , HLA Antigens/genetics , Haplotypes , Hematopoietic Stem Cell Transplantation/adverse effects , Leukemia, B-Cell/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Neoplasm, Residual , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Recurrence , Retrospective Studies , SiblingsABSTRACT
Cytokine release syndrome (CRS) is the most common on-target toxicity of chimeric antigen receptor (CAR) T cell therapy. However, the prognostic significance of CRS has not been well elucidated. The aim of our study was to evaluate the association between CRS and efficacy after anti-CD19 CAR-T therapy in a retrospective cohort of 22 patients with relapsed/refractory B cell hematological malignancies. The complete remission (CR) rates after CAR-T therapy were 68%, and median value for progression-free survival (PFS) was 6.8 months. Eight of 22 (36.4%) patients showed ≥ grade 2 CRS. Statistical analysis found that patients with ≥ grade 2 CRS had higher CR rates and longer PFS than those with < grade 2 CRS. Moreover, bridging hematopoietic stem cell transplantation was another independent predictor for PFS. These data suggested that appropriate CRS may be beneficial to the efficacy of CAR-T therapy. The Clinical Trial Registration number is NCT03110640, NCT03302403.
Subject(s)
Cytokine Release Syndrome/etiology , Cytokine Release Syndrome/mortality , Immunotherapy, Adoptive/adverse effects , Leukemia, B-Cell/complications , Leukemia, B-Cell/mortality , Lymphoma, B-Cell/complications , Lymphoma, B-Cell/mortality , Adolescent , Adult , Aged , Biomarkers , Disease Susceptibility , Female , Humans , Immunotherapy, Adoptive/methods , Leukemia, B-Cell/diagnosis , Leukemia, B-Cell/therapy , Lymphoma, B-Cell/diagnosis , Lymphoma, B-Cell/therapy , Male , Middle Aged , Neoplasm Grading , Neoplasm Staging , Prognosis , Retrospective Studies , Young AdultABSTRACT
BACKGROUND: Bone marrow necrosis (BMN) is a rare secondary disorder of many discrepant neoplastic processes. The etiology is diverse, and malignancy is the most common background disease. PATIENTS AND METHODS: Between 2005 and 2019, a total of 23 cases of BMN were detected and analyzed at Zhujiang Hospital and Nanfang Hospital. RESULTS: In our study, the 40-60-year-old age group was the one with the highest incidence of BMN (n = 12, 52.2%). The background diseases of patients with BMN varied. Eighteen (78.3%) of 23 patients were diagnosed with hematologic diseases at the same time, most of which were acute B lymphocytic leukemia (n = 8, 34.8%). The complete blood count of these 23 patients noted a decrease in hemoglobin (100%), a decrease or increase in white blood cells and neutrophils, and thrombocytopenia (78.3%). The levels of lactate dehydrogenase (> 300 U/L) and serum ferritin (> 500 µg/L) were elevated in all patients, and 16 (94.1%) of 17 patients presented with increased d-dimer levels. The 2-week cumulative survival and 2-year cumulative survival of patients with BMN were 56.5% and 47.4%, respectively. The mortality probability within 2 weeks was 43.5%, and the adjusted mortality probability was 26.7% within 2 weeks to 2 years, indicating that patients with BMN had the greatest risk of death within 2 weeks. CONCLUSION: BMN patients with B lymphocytic leukemia as the background disease had a better prognosis than those with other background diseases. BMN of unknown etiology may have an extremely poor prognosis. Therefore, diagnosing the background disease plays an important role in the treatment of BMN.
Subject(s)
Bone Marrow/pathology , Leukemia, B-Cell/complications , Adolescent , Adult , Aged , Biopsy , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Incidence , Leukemia, B-Cell/blood , Leukemia, B-Cell/diagnosis , Leukemia, B-Cell/mortality , Male , Middle Aged , Necrosis/blood , Necrosis/diagnosis , Necrosis/epidemiology , Necrosis/etiology , Prognosis , Retrospective Studies , Risk Assessment/statistics & numerical data , Survival Analysis , Time Factors , Young AdultSubject(s)
Antimetabolites, Antineoplastic/therapeutic use , COVID-19/diagnosis , Cytarabine/therapeutic use , Leukemia, Myeloid, Acute/drug therapy , Adult , Aged , Azacitidine/therapeutic use , COVID-19/complications , COVID-19/virology , Extracorporeal Membrane Oxygenation , Female , Humans , Leukemia, B-Cell/complications , Leukemia, B-Cell/drug therapy , Leukemia, Myeloid, Acute/complications , Male , Middle Aged , RNA, Viral/metabolism , Reverse Transcriptase Polymerase Chain Reaction , SARS-CoV-2/genetics , SARS-CoV-2/isolation & purification , Treatment OutcomeSubject(s)
COVID-19 Nucleic Acid Testing/methods , COVID-19/diagnosis , COVID-19/etiology , Hematopoietic Stem Cell Transplantation/adverse effects , Aged , Allografts , COVID-19/therapy , COVID-19 Serological Testing , CRISPR-Cas Systems , False Negative Reactions , Female , Humans , Immunization, Passive , Immunocompromised Host , Leukemia, B-Cell/complications , Leukemia, B-Cell/immunology , Leukemia, B-Cell/therapy , Leukemia, Myeloid, Acute/complications , Leukemia, Myeloid, Acute/immunology , Leukemia, Myeloid, Acute/therapy , Male , Middle Aged , Pandemics , SARS-CoV-2 , COVID-19 SerotherapySubject(s)
Anemia, Sickle Cell/complications , Coronavirus Infections/epidemiology , Leukemia, B-Cell/complications , Pneumonia, Viral/epidemiology , Adolescent , Anemia, Sickle Cell/therapy , Betacoronavirus , COVID-19 , Child , Child, Preschool , Female , France , Hematology , Hematopoietic Stem Cell Transplantation , Humans , Immunocompromised Host , Intensive Care Units , Leukemia, B-Cell/drug therapy , Leukemia, B-Cell/virology , Male , Medical Oncology , Pandemics , Pediatrics , Risk Factors , SARS-CoV-2 , Young AdultABSTRACT
A 22-year old male with a history of B-cell acute lymphoblastic leukemia with recent bone marrow transplantation and on immunosuppressive therapy presented with painless, subacute vision loss of two weeks duration. He exhibited a horizontal gaze palsy, nystagmus, and mildly swollen and hyperemic optic discs with peripapillary flame hemorrhage on retinal exam. He had bilateral cecocentral scotomas on visual field exam, and MRI of his brain/orbits demonstrated hyperintensities in the hypothalamus, periaqueductal gray, and dorsal rostral medullary regions. After continued progression of symptoms despite discontinuation of the patient's tacrolimus, an empiric trial of IV thiamine treatment was started before the patient's lab vitamin levels were available, given strong clinical suspicion for a nutritional etiology. The patient's clinical presentation improved dramatically, and he achieved a final visual acuity of 20/20, full visual fields bilaterally, and resolution of nystagmus. A final diagnosis of Wernicke's encephalopathy was supported by his clinical course, imaging findings, and further confirmation with blood thiamine levels. This case presents unique ocular manifestations of Wernicke's encephalopathy and highlights the importance of early diagnosis in this potentially reversible condition.
Subject(s)
Leukemia, B-Cell/pathology , Nystagmus, Pathologic/etiology , Thiamine/blood , Vision Disorders/drug therapy , Wernicke Encephalopathy/etiology , Brain/diagnostic imaging , Humans , Immunosuppressive Agents/therapeutic use , Leukemia, B-Cell/complications , Leukemia, B-Cell/therapy , Magnetic Resonance Imaging/adverse effects , Male , Nystagmus, Pathologic/diagnosis , Nystagmus, Pathologic/drug therapy , Ophthalmoplegia, Chronic Progressive External/etiology , Periaqueductal Gray/pathology , Scoliosis/etiology , Thiamine/administration & dosage , Thiamine/therapeutic use , Vision Disorders/etiology , Wernicke Encephalopathy/diagnosis , Young AdultSubject(s)
B-Lymphocytes/pathology , Leukemia, B-Cell/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology , Aged , Antigens, CD/analysis , Bone Marrow/pathology , Cytoplasmic Granules/pathology , Granulocyte Precursor Cells/pathology , Humans , Leukemia, B-Cell/complications , Leukemia, B-Cell/diagnosis , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosisSubject(s)
Abscess/diagnosis , Abscess/etiology , Aspergillosis/diagnosis , Aspergillosis/etiology , Protein Kinase Inhibitors/adverse effects , Pyrazoles/adverse effects , Pyrimidines/adverse effects , Abscess/drug therapy , Adenine/analogs & derivatives , Antifungal Agents/therapeutic use , Aspergillosis/drug therapy , Humans , Leukemia, B-Cell/complications , Leukemia, B-Cell/diagnosis , Lymphoma, B-Cell/complications , Lymphoma, B-Cell/diagnosis , Organ Specificity , Piperidines , Protein Kinase Inhibitors/therapeutic use , Pyrazoles/therapeutic use , Pyrimidines/therapeutic use , Treatment OutcomeSubject(s)
Antibodies, Bispecific/therapeutic use , Leukemia, B-Cell/drug therapy , Neoplasm, Residual/drug therapy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Biomarkers , Humans , Leukemia, B-Cell/complications , Leukemia, B-Cell/pathology , Neoplasm Recurrence, Local/drug therapy , Neoplasm Recurrence, Local/pathology , Neoplasm, Residual/chemically induced , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology , Remission InductionABSTRACT
Filariasis is very common in tropical countries. It is endemic in the coastal areas of India. We report four cases of haematological malignancy where peripheral blood and bone marrow smears did not show any microfilariae but conventional cytogenetic preparations from all the four cases showed the presence of parasites. Their morphology confirmed the diagnosis of all cases as bancroftian filariasis. Therefore all types of cytogenetic preparations should be screened carefully in the endemic areas along the coastal zones of India for the presence of this parasite.
Subject(s)
Filariasis/blood , Filariasis/complications , Leukemia, B-Cell/complications , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complications , Microfilariae , Multiple Myeloma/complications , Adult , Aged , Animals , Cytogenetic Analysis/methods , Filariasis/diagnosis , Filariasis/epidemiology , Humans , Leukemia, B-Cell/epidemiology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/epidemiology , Male , Multiple Myeloma/epidemiology , Parasitemia , Risk Factors , Young AdultABSTRACT
A 47-year-old man presented with abdominal pain, vomiting, and bone pain. Laboratory findings revealed severe hypercalcemia, anemia, and renal insufficiency with decreased serum parathyroid hormone. FDG PET/CT was performed for characteristics suggestive of multiple myeloma and other occult malignancy. The images revealed widespread osteolytic lesions with only 1 focus of definite abnormal FDG uptake. B-cell acute lymphoblastic leukemia was confirmed by pathological examination following bone marrow biopsy.
Subject(s)
Fluorodeoxyglucose F18 , Leukemia, B-Cell/complications , Leukemia, B-Cell/diagnostic imaging , Osteolysis/complications , Positron Emission Tomography Computed Tomography , Biological Transport , Biopsy , Fluorodeoxyglucose F18/metabolism , Humans , Leukemia, B-Cell/metabolism , Leukemia, B-Cell/pathology , Male , Middle Aged , Multiple Myeloma/complicationsSubject(s)
Disease Management , Leukemia, B-Cell/complications , Leukemia, B-Cell/pathology , Lyme Neuroborreliosis/complications , Lyme Neuroborreliosis/pathology , Adult , Anti-Bacterial Agents/administration & dosage , Antibodies, Bacterial/blood , Antineoplastic Agents/administration & dosage , Belgium , Borrelia burgdorferi Group/genetics , Borrelia burgdorferi Group/isolation & purification , Brain/diagnostic imaging , Brain/pathology , Ceftriaxone/administration & dosage , Doxycycline/administration & dosage , Female , Humans , Immunoglobulin G/blood , Leukemia, B-Cell/diagnosis , Leukemia, B-Cell/therapy , Lyme Neuroborreliosis/diagnosis , Lyme Neuroborreliosis/drug therapy , Magnetic Resonance Imaging , Mexico , Polymerase Chain ReactionABSTRACT
Cryoglobulinemia is a distinct entity characterized by the presence of cryoglobulins in the serum. Cryoglobulins differ in their composition, which has an impact on the clinical presentation and the underlying disease that triggers cryoglobulin formation. Cryoglobulinemia is categorized into two main subgroups: type I, which is seen exclusively in clonal hematologic diseases, and type II/III, which is called mixed cryoglobulinemia and is seen in hepatitis C virus infection and systemic diseases such as B-cell lineage hematologic malignancies and connective tissue disorders. Clinical presentation is broad and varies between types but includes arthralgia, purpura, skin ulcers, glomerulonephritis, and peripheral neuropathy. Life-threatening manifestations can develop in a small proportion of patients. A full evaluation for the underlying cause is required, because each type requires a different kind of treatment, which should be tailored on the basis of disease severity, underlying disease, and prior therapies. Relapses can be frequent and can result in significant morbidity and cumulative organ impairment. We explore the spectrum of this heterogeneous disease by discussing the disease characteristics of 5 different patients.
Subject(s)
Cryoglobulinemia/classification , Cryoglobulinemia/etiology , Adult , Connective Tissue Diseases/complications , Cryoglobulinemia/pathology , Cryoglobulinemia/therapy , Cryoglobulins , Female , Hepatitis C/complications , Humans , Leukemia, B-Cell/complications , Lymphoma, B-Cell/complications , Male , Middle Aged , RecurrenceABSTRACT
Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years). We herewith propose that the BCL7B gene, located in the chromosomal region commonly deleted in Williams syndrome, could potentially have a role in this particular association.