Burkitt lymphoma in a child with Bloom syndrome

Ayed, F. Fedhila-Ben; Douira-Khomsi, W.; Rhayem, S.; Jelassi, M. H.; Zribi, H.; Chaâbouni, M; Khémiri, M.; Bellagha, I.; Barsaoui, S.

doi:10.1016/j.arcped.2015.12.004

Cited by 9 publications

(9 citation statements)

References 7 publications

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“…Patients with inherited cancer risk associated with chromosomal instability represent a treatment challenge due to the chemotherapy‐associated toxicity. This short‐term toxicity limits the use of standard therapy and potentially affects the cure rate . Therefore, alternative modified protocols, such as the one used in this case, are required for such patients.…”

Section: Discussionmentioning

confidence: 99%

“…In BS, leukemia and lymphoma are most common in children and young adults under 20 years of age . One of the challenges in treating cancer in children with BS is the occurrence of chemotherapy‐induced toxicities, which result from inherent immunodeficiency, cellular oversensitivity, myelosuppression, and mucositis . As a result, chemotherapy dose reductions are often implemented, which frequently hampers the therapy's success.…”

Section: Introductionmentioning

confidence: 99%

“…As a result, chemotherapy dose reductions are often implemented, which frequently hampers the therapy's success. No successful treatment has been published to date …”

Section: Introductionmentioning

confidence: 99%

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

Jastaniah

2016

Pediatr Blood Cancer

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This report presents a case of Bloom syndrome (BS) in a consanguineous Saudi family. The patient, an 11-year-old male with mature B-cell lymphoma, had minimal therapeutic response and significant dose-limiting toxicity with standard chemotherapy treatment. He later responded successfully to a rituximab-based chemotherapy protocol. This case highlights that the rituximab-based chemotherapy protocol is an effective and safe treatment alternative for mature B-cell lymphoma in patients with BS. Further trials are warranted to investigate this modality of treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Jastaniah

2016

Pediatr Blood Cancer

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“…However, CT and/or PET scans may be necessary in some circumstances for tumor staging and selection of appropriate treatment regimens. Standard chemotherapy regimens should be modified for individuals with BSyn because in many circumstances the usual weight‐based dosing has resulted in severe and sometimes life‐threatening toxicity, including severe mucositis and prolonged neutropenia (Adams et al, ; Fedhila‐Ben Ayed et al, ). Affected individuals in the BSR have usually tolerated doses at or below 50% of the standard chemotherapy dosage, with no clear evidence that this has resulted in poorer outcomes.…”

Section: Cancermentioning

confidence: 99%

Health supervision for people with Bloom syndrome

Cunniff

Djavid

Carrubba

et al. 2018

American J of Med Genetics Pt A

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Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility.

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“…In the recent reviews, dose reduction up to 50% is recommended [Cunnif et al, 2018]. Some authors report more dramatic toxicity of treatment [Fedhila-Ben Ayed et al, 2016], while others report successful [Jastaniah, 2017]. Despite generally high treatment response rates in some of the aggressive B-cell lymphomas, relapses can occur, mostly in the first 2-3 years after treatment completion.…”

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confidence: 99%

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

Trizuljak¹,

Petruchová

Blaháková

et al. 2020

Mol Syndromol

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Bloom syndrome is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, and a greatly increased risk of early-onset cancer and development of multiple malignancies. Loss-of-function variants of the BLM gene, which codes for a RecQ helicase, cause Bloom syndrome. We report a consanguineous family, with 2 siblings showing clinical signs of suspected chromosome breakage disorder. One of them developed recurrent malignant lymphoma during lifetime. We performed next-generation sequencing analysis, focusing on cancer predisposition syndromes. We identified a homozygous pathogenic nonsense variant c.1642C>T (p.Gln548*) in the BLM gene in the proband, associated with Bloom syndrome. Sanger sequencing validated the presence of a homozygous pathogenic variant in the proband and also in the brother with short stature. In this article, we will focus on the clinical presentation of the syndrome in this particular family as well as the characteristics of malignancies found in the proband.

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Burkitt lymphoma in a child with Bloom syndrome

Cited by 9 publications

References 7 publications

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

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

Health supervision for people with Bloom syndrome

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

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