Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

Vagher, Jennie; Gammon, Amanda; Kohlmann, Wendy; Jeter, Joanne

doi:10.3389/fonc.2022.837059

Cited by 2 publications

(2 citation statements)

References 110 publications

(255 reference statements)

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“…Individuals with AT and bone marrow failure syndromes are more susceptible to female breast cancer. 9 , 18 , 47 , 56 , 59 HPV‐related papilloma cancer is seen in WHIM syndrome or EVER1, EVER2, MST1, RHOH, MAGT1, ITK deficiencies. 14 Squamous cell carcinoma (SCC) and BCC is reported in HIES due to DOCK8 deficiency.…”

Section: Hematologic and Oncologicalmentioning

confidence: 99%

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Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Mohammadi

Yadegar

Mardani

et al. 2023

Immunity Inflam & Disease

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Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and symptoms of IEI, physicians face challenges in appropriately diagnosing and managing affected individuals. The last decade has witnesses improving in the molecular diagnosis of IEI patients. As a result, it can be the mainstay of diagnostic algorithms, prognosis, and possibly therapeutic interventions in patients with IEI. Furthermore, reviewing IEI clinical complications demonstrates that the manifestations and severity of the symptoms depend on the involved gene that causes the disease and its penetrance. Although several diagnostic criteria have been used for IEI, not every patient can be explored in the same way. As a result of the failure to consider IEI diagnosis and the variety of diagnostic capabilities and laboratory facilities in different regions, undiagnosed patients are increasing. On the other hand, early diagnosis is an almost essential element in improving the quality of life in IEI patients. Since there is no appropriate guideline for IEI diagnosis in different organs, focusing on the clues in the patient's chief complaint and physical exams can help physicians narrow their differential diagnosis. This article aims to provide a practical guide for IEI diagnosis based on the involved organ. We hope to assist clinicians in keeping IEI diagnosis in mind and minimizing possible related complications due to delayed diagnosis.

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Section: Hematologic and Oncologicalmentioning

confidence: 99%

“…Patients with CHH or bone marrow failure syndromes have an increased risk of skin cancers. Individuals with AT and bone marrow failure syndromes are more susceptible to female breast cancer 9,18,47,56,59 . HPV‐related papilloma cancer is seen in WHIM syndrome or EVER1, EVER2, MST1, RHOH, MAGT1, ITK deficiencies 14 .…”

Section: Hematologic and Oncologicalmentioning

confidence: 99%

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Mohammadi

Yadegar

Mardani

et al. 2023

Immunity Inflam & Disease

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Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders

Nakano,

Kuiper,

Nichols

et al. 2024

Clinical Cancer Research

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Genomic instability disorders are characterized by DNA or chromosomal instability resulting in various clinical manifestations including developmental anomalies, immunodeficiency, and increased risk to develop cancers beginning in childhood. Many of these genomic instability disorders also present with exquisite sensitivity to anticancer treatments such as ionizing radiation and chemotherapy, which may further increase the risk of second cancers. In July 2023, the American Association of Cancer Research held the second Childhood Cancer Predisposition Workshop where multidisciplinary international experts discussed, reviewed, and updated recommendations for children with cancer predisposition syndromes. This article will discuss childhood cancer risks and surveillance recommendations for the group of genomic instability disorders with predominantly recessive inheritance, including the DNA repair disorders ataxia telangiectasia, Nijmegen breakage syndrome, Fanconi anemia, Xeroderma Pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome, as well as the telomere biology disorders and mosaic variegated aneuploidy. Recognition of children with genomic instability disorders is important in order to make the proper diagnosis, enable genetic counseling, and inform cancer screening, cancer risk reduction, and choice of anti-cancer therapy.

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Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders

Cited by 2 publications

References 110 publications

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Organ‐based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders

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