Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome

Jastaniah, Wasil

doi:10.1002/pbc.26385

Cited by 15 publications

(12 citation statements)

References 16 publications

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“…[14][15][16][17] Others received various dose modifications and reductions, which in most cases reduced toxicity, and in some successfully induced remission. [18][19][20][21][22] We report on two patients with BS who were treated for leukemia with markedly reduced intensity regimens and achieved remission, one of whom with a disease-free survival of currently greater than 11 years. Based on our experience with these patients, we propose several principles to consider when designing a treatment regimen.…”

Section: Discussionmentioning

confidence: 99%

“…Many patients with BS who were treated with standard chemotherapy suffered significant or fatal toxicities 14–17 . Others received various dose modifications and reductions, which in most cases reduced toxicity, and in some successfully induced remission 18–22 . We report on two patients with BS who were treated for leukemia with markedly reduced intensity regimens and achieved remission, one of whom with a disease‐free survival of currently greater than 11 years.…”

Section: Discussionmentioning

confidence: 99%

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Multidisciplinary management of endocrinopathies and treatment‐related toxicities in patients with Bloom syndrome and cancer

Levy

Presswala

Slomovic

et al. 2020

Pediatric Blood & Cancer

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The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair, predisposing to the development of early-onset age-related medical conditions and malignancies. We report on two patients with Bloom syndrome who responded well to chemotherapy despite significant alterations to standard protocols necessitated by hypersensitivity. Both patients experienced severe toxicities and exacerbation of endocrine comorbidities during chemotherapy. A multidisciplinary team of oncologists and endocrinologists is best suited to care for this patient population.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Multidisciplinary management of endocrinopathies and treatment‐related toxicities in patients with Bloom syndrome and cancer

Levy

Presswala

Slomovic

et al. 2020

Pediatric Blood & Cancer

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“…This includes not only an increased risk and severity of expected toxicities, such as haemorrhagic cystitis following cyclophosphamide in patients with DNARD, but also unexpected toxicities such as cardiotoxicity and hepatotoxicity as well as deterioration of pre-existing comorbidities, especially of renal and pulmonary function. Examples of excess toxicities are well-documented in many case reports and series (11, 45–48). However, what is less well-appreciated from the literature is the variability in toxicity, even within a single disease cohort, a rare example of which has been summarized for patients with Nijmegen Breakage syndrome (49).…”

Section: Management Of Malignancy In Iei/dnardmentioning

confidence: 91%

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group

Bomken

Bosch²,

Attarbaschi

et al. 2018

Front. Immunol.

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Patients with inborn errors of immunity or DNA repair defects are at significant risk of developing malignancy and this complication of their underlying condition represents a substantial cause of morbidity and mortality. Whilst this risk is increasingly well-recognized, our understanding of the causative mechanisms remains incomplete. Diagnosing cancer is challenging in the presence of underlying co-morbidities and frequently other inflammatory and lymphoproliferative processes. We lack a structured approach to management despite recognizing the competing challenges of poor response to therapy and increased risk of toxicity. Finally, clinicians need guidance on how to screen for malignancy in many of these predisposing immunodeficiencies. In order to begin to address these challenges, we brought together representatives of European Immunology and Pediatric Haemato-Oncology to define the current state of our knowledge and identify priorities for clinical and research development. We propose key developmental priorities which our two communities will need to work together to address, collaborating with colleagues around the world.

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“…The outcome of these practices helps to decline the incidence and morbidity rate of inherited leukemia among children (8,9). It is estimated that 5-10% of the leukemia cases are attributed to the genetic susceptibility (10).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Hereditary Cancer Susceptibility Syndromes (HCSS) in Acute Lymphoblastic Leukemia (ALL): A Cross-Sectional Study in a Highly Consanguineous Population.

Aslam

Ahmed

2021

Preprint

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Background: Hereditary cancer susceptibility syndrome (HCSS) has been reported to impact cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and referring the patients and their families for genetic counselling. The aims of this study are to assess the prevalence of HCSS as hereditary leukemia and hematologic malignancy syndrome by using ACMG guidelines and to assess parental consanguinity as the criterion for referring patients for the genetic counselling. Methods: A total of 300 acute lymphoblastic leukemia subjects were recruited from the Children’s Hospital, Lahore, Pakistan during the period of December 2018 to September 2019. Structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection.Results: In our cohort, 60.40% of ALL patients were identified to have HCSS and among them 40.65% patients solely fulfil the criteria due to the presence of parental consanguinity. Parental consanguinity was shown to have protective impact on the onset at early age of disease [OD=0.44 (0.25-0.77), p-value= 0.00] while family history of cancer increase the risk of cardiotoxicity [OD= 2.46 (1.15-5.24), p-value=0.02]. Parental consanguinity in the population shows no significant impact on the family history of cancer and the number of relatives with cancer. Conclusions: The higher prevalence of HCSS in Pakistani population is attributed to the presence of parental consanguinity in more than 50% of the patients when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines for the criterion of parental consanguinity in the highly consanguineous population and formulating the score based criteria for the identification of inherited ALL for genetic counselling.

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Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome

Cited by 15 publications

References 16 publications

Multidisciplinary management of endocrinopathies and treatment‐related toxicities in patients with Bloom syndrome and cancer

Multidisciplinary management of endocrinopathies and treatment‐related toxicities in patients with Bloom syndrome and cancer

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group

Prevalence of Hereditary Cancer Susceptibility Syndromes (HCSS) in Acute Lymphoblastic Leukemia (ALL): A Cross-Sectional Study in a Highly Consanguineous Population.

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