History Of Acute Lymphoblastic Leukemia Research Articles

Vaccination against Measles in Patients with Oncological Disease

Relevance. Growing distrust of vaccines around the world, a decrease in vaccination rates have led to an increase in the incidence of measles and a rise in the vulnerability of people with immunodeficiency status. The aim. To study the efficacy and safety of measles vaccination in children with oncohematological diseases. Materials & methods. The study involved 107 children: 74 of them with a history of acute lymphoblastic leukemia and 33 with solid tumors. All children had a history of receiving standardized polychemotherapy. In all the subjects, the vaccination history was studied, the titers of specific antibodies to measles were determined. Children with non-protective levels of antibodies (53 children) were subsequently vaccinated against measles. Results and discussions. Of the 107 children examined, before cancer, 99 (92.5%) were vaccinated against measles, of which 68 (68.7%) patients were only vaccinated, and 31 (31.3%) had vaccination and revaccination. Protective titers of antibodies against measles were preserved in 51 people (51.5%), and 48 (48.5%) were seronegative. When assessing immunogenicity on days 14, 45 after the introduction of the vaccine, it turned out that by day 14, 27 out of 53 children (50.9%) developed measles antibodies, and by day 45, 33 out of 53 children (62.3%), the rest of the children did not developed a protective level of antibodies, including 3 of 6 revaccinated. Conclusion. Thus, children with malignant diseases, regardless of the number of previous vaccinations and the duration of the end of therapy, become unprotected or have low titers of antibodies to measles in 83.8%, and immunization after treatment is effective in 62.3% of cases.

CCCerebral cryptococcosis regarding two clinical cases and bibliographic review

Cryptococcosis is a life-threatening infection, the species complexes Cryptococcus neoformans and Cryptococcus gattii are yeasts with a polysaccharide capsule, metabolize urea and catecholamines; It is transmitted by inhalation of bird droppings, mainly pigeons, and is capable of causing outbreaks in both immunocompromised and immunocompetent hosts. In Latin America, cryptococcal meningitis is a health threat. The initial infection is localized to the lungs and spreads to other organs, such as the central nervous system, where it causes meningoencephalitis and rarely focal granulomatous lesions such as cryptococcomas. The diagnosis must be made early, with serological tests for the cryptococcal polysaccharide capsular antigen. Treatment is divided into induction, consolidation and maintenance. Below, two clinical cases are presented, the first case is a 68-year-old female with a history of tuberculosis 15 years ago; 10 days, with holocranial headache, nausea and vomiting; on physical examination with superficial stupor, nuchal rigidity; kerning sign (+); lumbar puncture with identification of cryptococcal meningitis, induction treatment with fluconazole was started. The second case, a 60-year-old male with a history of acute lymphoblastic leukemia with chemotherapy 1 month ago, suddenly presented with altered consciousness, a lumbar puncture was performed, which reported cryptococcal meningitis by PCR, induction treatment with fluconazole was started; Both patients were admitted to the Intensive Care Unit, however, they had an unfavorable outcome.

Severe Sepsis During Treatment for Childhood Leukemia and Sequelae Among Adult Survivors

Children undergoing treatment for leukemia are at increased risk of severe sepsis, a dysregulated immune response to infection leading to acute organ dysfunction. As cancer survivors, they face a high burden of long-term adverse effects. The association between sepsis during anticancer therapy and long-term organ dysfunction in adult survivors of childhood cancer has not been examined. To determine whether severe sepsis during therapy for leukemia in childhood is associated with subsequent chronic health conditions in adult survivors. This cohort study included 644 adult survivors of childhood leukemia who were diagnosed between January 1, 1985, and July 19, 2010, and participated in the St Jude Lifetime Cohort Study. Participants were excluded if they received hematopoietic cell transplant or had relapsed leukemia. Data collection ended June 30, 2017. Data were analyzed from July 1, 2020, to January 5, 2024. Severe sepsis episodes, defined according to consensus criteria as septic shock, acute respiratory distress syndrome, or multiorgan dysfunction associated with infection occurring during anticancer therapy, were abstracted by medical record review for all participants. Common Terminology Criteria for Adverse Events-defined chronic health condition outcomes were independently abstracted. Associations between sepsis and cumulative incidence of chronic health conditions (eg, cardiovascular, pulmonary, kidney, neurological, and neurocognitive outcomes) were compared by adjusted hazard ratios from Cox proportional hazards logistic regression. Inverse propensity score weighting was used to adjust for potential confounders, including age, year of diagnosis, and leukemia type. The study sample consisted of 644 adult survivors of pediatric leukemia (329 women [51.1%] and 315 men [48.9%]; including 56 with a history of acute myeloid leukemia and 585 with a history of acute lymphoblastic leukemia) who were most recently evaluated at a median age of 24.7 (IQR, 21.2-28.3) years at a median time after leukemia diagnosis of 17.3 (IQR, 13.7-21.9) years. Severe sepsis during treatment of acute childhood leukemia occurred in 46 participants (7.1%). Participants who experienced severe sepsis during treatment were more likely to develop moderate to severe neurocognitive impairment (29 of 46 [63.0%] vs 310 of 598 [51.8%]; adjusted hazard ratio, 1.86 [95% CI, 1.61-2.16]; P < .001) significantly affecting attention, executive function, memory and visuospatial domains. Sepsis was not associated with long-term risk of cardiovascular, pulmonary, kidney, or neurological chronic health conditions. In this cohort study of long-term outcomes in survivors of pediatric leukemia, severe sepsis during anticancer therapy for leukemia was associated with a selectively increased risk for development of serious neurocognitive sequelae. Efforts to reduce the effects of anticancer therapy on long-term function and quality of life in survivors might include prevention of severe sepsis during therapy and early detection or amelioration of neurocognitive deficits in survivors of sepsis.

Evaluation of Bone Health Using High Resolution Peripheral Quantitative Computed Tomography in Survivors of Paediatric Acute Lymphoblastic Leukemia

Bone mass accrual, bone architecture, and strength may be impaired in children with a history of acute lymphoblastic leukemia (ALL) resulting in low bone mineral density (BMD) and fractures. The Children's Oncology Group recommends evaluating ALL survivors' bone health with dual-energy X-ray absorptiometry (DXA) testing. However, DXA testing may not accurately measure bone health in survivors due to low bone area for height, short stature, growth delays or decreased lean muscle mass. Further, it does not differentiate between trabecular and cortical bone, nor does it provide insights into bone microarchitecture and strength. High-resolution peripheral quantitative computed tomography (HR-pQCT) is a three-dimensional non-invasive imaging modality that provides a comprehensive assessment bone microarchitecture, volumetric BMD (vBMD) of both cortical and trabecular bone, and bone strength. In adult patients, HR-pQCT parameters have been shown to predict incident fractures. In this pilot study we utilized HR-pQCT to evaluate bone microarchitecture, vBMD, bone geometry and bone strength of peri-pubertal and pubertal survivors of ALL compared to healthy controls. Methods: We prospectively recruited ALL survivors (&amp;gt;1 year off therapy) with a DXA BMD Z-score between -2.0 to 0 within the proceeding six months, who were in early-late puberty (pre-pubertal patients excluded), and aged 11 to 18 years, along with healthy controls in the same age range at a single academic pediatric center in Canada. While a BMD Z-score of -2.0 to 0 has historically been considered normal, many children with Z-scores in this range have skeletal fragility and an increased fracture risk. Patients were excluded if they had comorbidity that impacts bone microarchitecture (ex. chronic kidney disease), were on a medication that impacts bone health (ex. corticosteroids) or had a genetic syndrome that increased their sensitivity to radiation (ex. Ataxia Telangiectasia). HR-pQCT of the distal radius and tibia was performed using the a standardized protocol. Bone mass was compared using total, trabecular and cortical vBMD, bone architecture was compared using cortical porosity and bone strength was compared using failure load. HR-pQCT derived variables were compared between ALL and control groups following stratification by sex. HR-pQCT values were summarized using medians and interquartile ranges and medians were compared using the Wilcoxon signed-rank test. Demographic and clinical characteristics were compared using the chi-square test. All tests were two tailed and p&amp;lt;0.05 was considered significant. Results: A total of 59 subjects were recruited (34 ALL survivors, 25 healthy controls). The sex of participants was male for 56.0% (n=14) of controls and 61.7% (n=21) of ALL survivors and female for 44.0% (n=11) of controls and 38.3% (n=13) of survivors. All survivors had received corticosteroids and methotrexate, and five (15%) had received cranial radiation. ALL survivors were not more likely than controls to report a history of a fracture (32.4%, n=11 vs. 16%, n=4). Additional data regarding the participants demographics is presented in Table 1. Male survivors had a lower radial trabecular vBMD, tibial total vBMD, and tibial trabecular vBMD, and a higher tibial failure load compared to healthy male controls. Female survivors had a lower radial total vBMD, radial trabecular vBMD, tibial total vBMD, and tibial trabecular vBMD. Female ALL survivors also had higher radial and tibial failure loads compared to healthy female controls. No differences in cortical porosity or cortical vBMD were identified between survivors and healthy controls. Complete HR-pQCT data is presented in Table 2. Conclusions: We demonstrated differences in the HR-pQCT parameters of peripubertal and pubertal ALL survivors compared to healthy controls. Survivors had reductions in key HR-pQCT parameters and an increased tibial failure load compared to healthy controls. In future studies HR-pQCT should be performed at a uniform time point post ALL therapy and used to predict future adverse bone health outcome such as fractures. Using this HR-pQCT guided approach ALL survivors at greatest risk of an adverse bone health outcome can be offered early interventions to prevent these outcomes.

Extensive sclerodermoid signs in a pediatric patient after treatment for malignancy

AbstractA 17‐year‐old female with a history of acute lymphoblastic leukemia underwent hematopoietic stem cell transplantation. Over the following months, the patient experienced skin tightening, thickened patches on the trunk and limbs, limited joint mobility and other dermatological manifestations. The diagnosis of chronic sclerodermoid GVHD was confirmed by a skin biopsy. The patient improved with emollients and oral cyclosporine. Sclerodermoid GVHD is rare in pediatrics and its diagnosis may be misinterpreted or delayed. Early recognition is crucial in this challenging condition.This article is protected by copyright. All rights reserved.

Mild blurry vision as the initial presentation of central nervous system relapses of acute lymphoblastic leukemia: a case report

BackgroundLeukemia relapses after hematopoietic stem cell transplantation can sometimes occur from the central nervous system prior to relapse from the bone marrow, and manifestations varied.Case reportWe present a case of mild blurry vision as the initial symptom of central nervous system relapse of adult acute lymphoblastic leukemia. A 30-year-old man presented with a 1 week history of painless visual loss in both eyes. At that time there were no headaches or other systemic features. The neurological examination was without positive findings except bilateral optic nerve edema. He had a history of acute lymphoblastic leukemia and hematopoietic stem cell transplantation, which had been in clinical remission post-transplant for 1 year. Lumbar puncture revealed relapsed disease within the central nervous system, confirmed with cerebrospinal fluid leukemic blasts.ConclusionsIt highlights the need for ophthalmologists to be aware of the possibility of central nervous system involvement in patients with the setting of leukemia when visual symptoms as the initial manifestation.

Lateral Canthotomy and Cantholysis for Spontaneous Retrobulbar Hemorrhage With Normal Intraocular Pressures: Case Report and Review of the Literature

Spontaneous retrobulbar hemorrhage (RBH) is uncommon and typically occurs secondary to vascular malformations, coagulopathies, hypertension, or strenuous activities in the setting of elevated intraocular pressure (IOP). RBH can cause orbital compartment syndrome (OCS) with resultant permanent vision loss. We present a case of spontaneous RBH in an 18-year-old male with a history of acute lymphoblastic leukemia (ALL) and sepsis. While IOPs were normal, the patient exhibited symptoms of OCS in which a lateral canthotomy and cantholysis were performed. This case highlights the importance of the clinical exam when treating a patient with suspected OCS and demonstrates that intraocular pressures need not be elevated for both diagnosis and intervention.

A-146 Neuropsychological Evaluation and Outcomes of Acute Lymphoblastic Leukemia Treated with Chemotherapy in a Transgender Adolescent Male: A Case Study

Abstract Objective: Transgender youth face enormous barriers to accessing medically necessary gender-transition-related care, including neuropsychological evaluation. Normative data for cognitive and psychological measures have not been developed for transgender individuals, creating a dilemma for neuropsychologists. Sex-based differences in certain domains and literature identifying brain-based changes with hormone therapy are additional factors. The aim of this study is to discuss unique considerations when evaluating medically complex transgender individuals. Method: A 14-year-old transgender male (assigned female at birth) with a history of acute lymphoblastic leukemia treated with chemotherapy, presented for evaluation to assess late effects of treatment and psychiatric complexities. He experienced gender dysphoria since childhood, identified as non-binary during early adolescence, and recently identified as male. He had not yet begun medical treatment (puberty blockers, hormone therapy) related to gender-affirming care. Results: Thoughtful consideration informed by current literature was made regarding test selection, norm usage, and data interpretation. Gender combined norms were used when available. Norms based on preferred or birth-assigned gender were used within the context of known sex-based differences in certain domains and low likelihood of brain-based changes at this time. Results revealed average or better performance across most domains, mild weakness in visual-motor integration and motor-dependent processing speed, and anxiety. Conclusion: Outcomes were believed related to chemotherapeutic late effects along with complex psychosocial factors. This case highlights the need for a thoughtful approach to the neuropsychological evaluation of transgender youth from test and norm selection to data interpretation along with consideration of unique psychosocial factors which are likely to be present for transgender individuals.

Safety of administration of BNT162b2 mRNA (Pfizer-BioNTech) COVID-19 vaccine in youths and young adults with a history of acute lymphoblastic leukemia and allergy to PEG-asparaginase.

Vaccinationis a critical tool in the prevention of COVID‐19 infection for individuals and for communities. The mRNA vaccines contain polyethylene glycol (PEG) as a stabilizer. Currently, in North America, only the BNT162b2 (Pfizer‐BioNTech) mRNA vaccine is approved for individuals aged 12–17. Most patients treated with contemporary regimens for acute lymphoblastic leukemia receive PEG‐asparaginase (PEG‐ASNase) and 10%–30% will develop allergic reactions. Optimizing access and safety for vaccine administration for these patients is critical. This report describes a process developed to support COVID vaccination in a cohort of adolescents and young adults with a history of PEG‐ASNase allergy.

Pediatric Calcaneal Tuberosity Avulsion Fracture: A Case Report and Literature Review

Introduction: Calcaneus fractures are rare in the pediatric population, and avulsion fracture of the calcaneal tuberosity is even less common. In adults, those fractures are usually associated with poor bone quality, however, this is not the case in children. It is a fracture that requires emergent intervention to prevent devastating skin and soft-tissue-related complications. Case Report: We report a case of a 9-year-old female who had a displaced calcaneal tuberosity fracture with heel skin impending compromise, after a fall at an indoor gymnastic facility. The child had a history of acute lymphoblastic leukemia, diagnosed at age 4, she was in remission at the time of injury. In the present report, besides reporting a rare injury among the pediatric population, we also describe the operative management, the post-operative course, and we review the literature. Conclusion: Pediatric calcaneal tuberosity fractures, although rare, can lead to devastating complications if not addressed promptly, and should be treated in an expedited fashion. Keywords: Pediatric, calcaneal tuberosity, skin compromise.

Unilateral optic nerve relapse after acute lymphoblastic leukaemia remission

AbstractBackground:The aim of this case report is to describe the clinical presentation and imaging features of a patient with optic nerve leukaemic infiltration as the first site of relapse after complete response to systemic treatment.Materials and methods:We report the case of a 23-year-old man with history of acute lymphoblastic leukaemia (ALL) in complete remission. Six months later, the ocular examination revealed decreased visual acuity. Fundus examination showed a pale optic disk with blurred margins and multiple flame-shaped and dot and blot retinal haemorrhages in his left eye. A diagnosis of leukaemic infiltration to the optic nerve was made by magnetic resonance imaging (MRI). Cytological analysis of the cerebrospinal fluid did not show any abnormal cells or blasts.Results:A course of oral corticosteroid therapy was prescribed and 20 Gy of radiation was administered to the whole brain including the left orbit. Vision was improved dramatically in the left eye. Isolated optic nerve relapse of leukaemic infiltration is of paramount importance to early diagnosis, as vision can be saved if treatment with orbital radiotherapy is initiated promptly.

Case Discussion and Literature Review: Cancer Immunotherapy, Severe Immune-Related Adverse Events, Multi-Inflammatory Syndrome, and Severe Acute Respiratory Syndrome Coronavirus 2.

Pediatric, adolescent and young adult (AYA) patients receiving novel cancer immunotherapies may develop associated toxicities with overlapping signs and symptoms that are not always easily distinguished from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection/clinical sequelae. We describe 2 diagnostically challenging cases of SARS-CoV-2 and Multi-Inflammatory Syndrome-Adult (MIS-A), in patients with a history of acute lymphoblastic leukemia following cellular therapy administration and review evolving characterization of both the natural course of SARS-CoV-2 infection and toxicities experienced in younger cancer immunotherapy patients. Vigilant monitoring for unique presentations and epidemiologic surveillance to promptly detect changes in incidence of either condition may be warranted.

Rare case of BRAF V600E mutant anaplastic pleomorphic xanthroastrocytoma in a 5-year survivor of acute lymphoblastic leukaemia

A 20-year-old woman with a history of acute lymphoblastic leukaemia treated at 13 years old with radiation and chemotherapy and a benign cystic mature ovarian teratoma diagnosed at 18 years...

Eating behaviors and dietary quality in childhood acute lymphoblastic leukemia survivors.

Childhood acute lymphoblastic leukemia (ALL) survivors' increased risk for adverse health outcomes could be mitigated through consuming a balanced diet. Nonetheless, >70% of adult survivors do not meet survivorship dietary recommendations. ALL treatment may amplify risk for restricted dietary preferences (picky eating) and poor self-regulation of food intake that could contribute to suboptimal diets in survivorship. This study aims to: (a) characterize differences in picky eating and self-regulation of food intake between survivors and peer controls; and (b) examine the associations between these eating behaviors and dietary quality in ALL survivors relative to peer controls. Participants were children (5-13years) with (n=32) and without (n=32) a history of ALL and their caregivers. Children's dietary quality (Healthy Eating Index-2015) was calculated from 24-h dietary recalls. Caregivers completed the Child Eating Behavior Questionnaire-Food Fussiness subscale and the Child Self-Regulation in Eating Questionnaire. Independent samples t-tests revealed survivors exhibited greater picky eating than peer controls but comparable self-regulation of food intake. Bootstrapped grouped multivariate regression results showed that for ALL survivors, greater picky eating was associated with worse dietary quality (controlling for age and self-regulation of food intake). For peer controls, worse self-regulation of food intake was associated with poorer dietary quality (controlling for picky eating and age). Results provide preliminary support that different eating behaviors contribute to poor dietary quality in children with and without an ALL history. These findings suggest that interventions to improve ALL survivors' dietary quality may benefit targeting picky eating.

LINC-34. OPTIC NERVE INFILTRATION: RARE MANIFESTATION OF CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA IN REMISSION

BACKGROUNDOptic nerve infiltration in acute lymphoblastic leukemia is a rare manifestation. This infiltration may appear months in advance as an isolated sign of extramedullary relapse and considered as one of the significant clinical findings of central nervous system leukemia. AIM: To describe a case of rapidly progressive optic nerve infiltration in a girl with ALL in remission. CASE: A 13-year-old girl in full remission following treatment for B-cell acute lymphoblastic leukemia presented with decreased vision and proptosis on the left eye. She completed the chemotherapy course two years before. On physical examination, we found the optic disc swelling in her left eyes. There were no signs of relapse from the hematological, cerebrospinal fluid analysis, and bone marrow aspiration. The orbital CT found a mass on the left retrobulbar (size 29x48x32 mm), suspected of optic nerve glioma. The mass has grown rapidly in a month, and she lost her left sight. The involved eye was exenterated (60x55x40 mm). The histopathology and immunohistochemistry showed the B-cell acute lymphoblastic lymphoma. Unfortunately, the patient could not come for further follow up due to the COVID-19 large-scale social distancing. Two months later, she came with pallor and pain in all of her body. The bone marrow aspiration showed leukemic relapse and she is undergoing chemotherapy.CONCLUSIONOptic nerve infiltration by leukemia requires both diagnostic certainty and urgent management. A routine ophthalmic assessment is recommended in patients with a history of acute lymphoblastic leukemia to diagnose optic nerve involvement due to leukemic infiltration.

Premature Ocular Aging Features in Childhood Acute Lymphoblastic Leukemia Survivors.

Purpose: Childhood cancer survivors (CCS) demonstrate features of premature aging in a multitude of organ systems. The aim of this pilot study is to determine the presence of premature ocular aging features in CCS, specifically childhood acute lymphoblastic leukemia (ALL) survivors. Methods: This prospective case-control study was conducted over a period of 21 months, starting July 2015 till March 2017. A total of 59 childhood ALL survivors who attended the Paediatric Oncology Clinic of University Malaya Medical Centre (UMMC) and 48 age, race, and gender-matched controls went through a series of ocular examinations and tests. Inclusion criteria used to recruit survivors were age above 16 years, history of ALL in childhood, completion of treatment for ALL, and a remission period of at least 5 years. Patients with ocular disease and those who received hematopoietic stem cell transplantation were excluded. The parameters measured were visual acuity, amplitude of accommodation, pupil cycle time (PCT), and tear break-up time (TBUT). Results: Survivors of childhood ALL demonstrated significant differences in amplitude of accommodation, PCT, and TBUT compared to age-matched controls. Survivors had a lower median (interquartile range [IQR]) amplitude of accommodation compared to controls (11.0 D [9.0-13.0] vs. 12.0 D [10.5-15]; p = 0.045). Survivors also showed a longer median (IQR) PCT in comparison to controls (931.00 mseconds (857.00-1063.00) vs. 875.50 mseconds (825.75-966.00); p = 0.024). In addition, median (IQR) TBUT was worse in survivors in comparison to the control group (9 seconds [6-13] vs. 11 seconds [10-15]; p = 0.001). Conclusion: Survivors of childhood ALL demonstrate premature ocular aging features compared to age-matched controls. Thus, survivors may benefit from having ocular examinations as part of their routine late-effects screening to detect age-related ocular morbidities early in its course.

JAK2V617F-positive clonal hematopoiesis of indeterminate potential in pregnant women

Aim: to assess the prevalence of V617F somatic mutation of the JAK2 gene in pregnant women.Materials and methods. This non-interventional study was performed in the framework of routine clinical practice and included 1532 samples of venous blood from pregnant women who applied for medical assistance at Krasnoyarsk Regional Clinical Center for Maternal and Child Welfare. We used blood samples left after all routine laboratory tests had been done. These leftovers were pooled in the way that ensured an equal ratio of nucleated cells. Each pool contained 7 separate blood samples. The unused samples that remained after the pooling were frozen and stored at –20°C until the end of entire testing procedure. The V617F JAK2 mutation was detected by the real-time allele-specific polymerase chain reaction test.Results. Among the examined pregnant women, 6 (0.4 %) were identified as carriers of V617F JAK2 mutation. Three women with this mutation suffered from infertility for 4, 5, and 10 years; two of them had repeated miscarriages in the first trimester of pregnancy. The 6 women – carriers of this mutations had no concomitant genetic polymorphisms typical of thrombophilia (factors FII, FV), and no abnormal coagulation characteristics. Analysis of their medical records showed that in the past, two of these women had gestational hypertension, one developed a clinical picture of preeclampsia, and another one (with the maximum presence of the mutant allele) had a history of acute lymphoblastic leukemia followed by stable remission.Conclusion. The routine laboratory detection of the V617F JAK2 mutation can facilitate timely identification of the increased risk of pregnancy pathology, as well as timely diagnosis of hematological cancer.

Teaching NeuroImages: Optic and third cranial nerves infiltration as initial relapse of acute lymphoblastic leukemia.

A 34-year-old man with a history of acute lymphoblastic leukemia (ALL) under consolidation treatment presented right-side blurred vision and headache associated with complete third right cranial nerve palsy. Brain MRI (figure, A–E) revealed thickening of the right optic and third nerves. Fundus examination (figure, F) found Roth spots, which are highly suggestive of retinal leukemic infiltration.1 Lumbar puncture revealed blast cells. Other possible differentials were excluded. The right-side headache was probably due to ischemic changes of the nerves secondary to the leukemic infiltration.

Association between VNTR polymorphism in promoter region of XRCC5 and susceptibility to acute lymphoblastic leukemia risk

BackgroundThe X-ray repair cross complementing group 5 (XRCC5) gene that contains a variable number tandem repeat (VNTR) insertion in its promoter region encodes Ku80. It plays an important role in DNA double-strand break as part of the non-homologous end joining (NHEJ) pathway. This polymorphism is associated with the risk of numerous cancers. Therefore, the present study was investigated the association between the VNTR genetic polymorphism of XRCC5 and risk of acute lymphoblastic leukemia (ALL). Methods and resultsWe analyzed VNTR polymorphism of XRCC5 gene in 100 ALL cases and 200 controls by polymerase chain reaction. Controls had no history of ALL, and they matched by age with cases. The genotypes were determined by using PCR-based methods. Our results showed that for the VNTR XRCC5 polymorphism the 1R/2R genotype and 0R/2R significantly increased the risk of ALL cancer (OR 2.52, 95% CI 1.385–4.588, P = 0.002; OR 4.333, 95% CI 0.914–20.533, P = 0.025) in comparison with the 1R/1R genotype, respectively. The 0R/3R genotype decreased the risk of ALL cancer compared with 1R/1R genotype (Fisher's test P = 0.002). ConclusionsConsequently, the VNTR polymorphism in the promoter region of XRCC5 gene might be risk factor for ALL development.

A lot of nerve

A 71-year-old woman with a history of acute lymphoblastic leukemia presented with unilateral optic disc edema. Laboratory evaluations for infectious, inflammatory, and neoplastic etiologies were negative. Magnetic resonance imaging of the orbits with and without contrast demonstrated enhancement and thickening of the right optic nerve with mild stranding of the intraconal fat. She underwent three large-volume lumbar punctures, all of which were negative for malignancy. An optic nerve biopsy was ultimately performed, demonstrating malignant cells on immunohistochemical staining. This case illustrates a rare case of biopsy-proven leukemic infiltration of the optic nerve head as the presenting sign of leukemic relapse despite a negative systemic workup. Leukemic infiltration should be considered in the differential diagnosis for cases of acquired disc edema, especially in patients with a past medical history of leukemia.