Xeroderma Pigmentosum Diagnosis Using a Flow Cytometry-Based Nucleotide Excision Repair Assay

Nakano, Eiji; Takeuchi, Seiji; Ono, Ryusuke; Tsujimoto, Mariko; Tomita, Masaki; Nishigori, Chikako

doi:10.1016/j.jid.2017.08.046

Cited by 6 publications

(6 citation statements)

References 12 publications

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“…Patients with XP-V have almost a normal level of NER; therefore, unscheduled DNA synthesis (UDS) is more than 60%; however, they are deficient in TLS. Previously, we have reported that patients with XP-V are impaired in the (6-4)PP removal specifically in the S-phase (25). On the other hand, Francois Be'langer et al have reported that several melanoma cell lines present the S-phase specific repair deficiency of dipyrimidine photoproducts, especially that of (6-4)PP (26).…”

Section: Cancer Frequency and Age Of Onset Of Skin Cancer In Japanesementioning

confidence: 91%

“…Patients with XP‐V have almost a normal level of NER; therefore, unscheduled DNA synthesis (UDS) is more than 60%; however, they are deficient in TLS. Previously, we have reported that patients with XP‐V are impaired in the (6‐4)PP removal specifically in the S‐phase . On the other hand, Francois Be'langer et al .…”

Section: Cancer Frequency and Age Of Onset Of Skin Cancer In Japanesementioning

confidence: 93%

“…Of late, flow cytometry‐based quantification of the removal of photolesions, (6‐4)PP, was shown to correlate very well with UDS. This method enables us to measure cell cycle‐specific NER, which is useful for the diagnosis of XP‐V because in XP‐V cells, DNA repair is slower specifically in the S‐phase . As for XP‐V and XP‐C, patients do not manifest exaggerated sunburns but present only gradually increasing freckle‐like pigmentation, and definite diagnosis before the development of skin cancer is crucial.…”

Section: Diagnosis Treatment and Patient Carementioning

confidence: 99%

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Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care

Nishigori

Nakano

Tomita

et al. 2018

Photochem & Photobiology

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Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease caused by deficiency in repair of DNA lesions generated by ultraviolet radiation and other compounds. Patients with XP display pigmentary change and numerous skin cancers in sun‐exposed sites, and some patients show exaggerated severe sunburns even upon minimum sun exposure as well as neurological symptoms. We conducted a nationwide survey for XP since 1980. In Japan, the frequency of the XP complementation group A is the highest, followed by the variant type; while in the Western countries, those of groups C or D are the highest. Regarding skin cancers in XP, basal cell carcinoma was the most frequent cancer that afflicted patients with XP, followed by squamous cell carcinoma, and malignant melanoma. The frequency of these skin cancers in patients with XP has decreased in these 20 years, and the age of onset of developing skin cancers is higher than those previously observed, owing to early diagnosis and education to patients and care takers on strict prevention from sunlight for patients with XP. On the other hand, the effective therapy for neurological XP has not been established yet, and this needs to be done urgently.

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Section: Cancer Frequency and Age Of Onset Of Skin Cancer In Japanesementioning

confidence: 91%

Section: Cancer Frequency and Age Of Onset Of Skin Cancer In Japanesementioning

confidence: 93%

Section: Diagnosis Treatment and Patient Carementioning

confidence: 99%

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Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care

Nishigori

Nakano

Tomita

et al. 2018

Photochem & Photobiology

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“…Written, informed consent and assent, was obtained from all patients. The patients underwent multimodality assessment including clinical [ 11 ], genetic, MRI/CT imaging, neuropsychological, laboratory and electrodiagnostic evaluation. Records of deep tendon reflexes were available on most of the subjects evaluated.…”

Section: Methodsmentioning

confidence: 99%

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

et al. 2021

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Background Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurological degeneration. Complementation groups XP-A and XP-D are most frequently associated with neurological disorders. Design/methods This is a retrospective review of patients with XP who were evaluated at NIH from 1986 to 2015 and had nerve conduction studies (NCS). In the complementation groups with peripheral neuropathy, further comparisons of the NCS were made with audiological, brain imaging, neuropsychological assessments that were also performed on most of the patients. Limited neuropathology of XP-A and XP-D patients were examined.. Results The 33 patients had NCS: XP-A (9 patients), XP-C (7 patients), XP-D (10 patients), XP-E (1 patient), XP-V (4 patients), and XP-unknown (2 patients). Peripheral neuropathy based on nerve conduction studies was documented only in two complementation groups: 78% (7/9) of XP-A patients had a sensorimotor neuropathy while 50% (5/10) of XP-D patients had a sensory neuropathy only. Analysis of sural sensory nerve amplitude in both complementation groups XP-A and XP-D correlated with sensorineural hearing loss (SNHL), MRI/CT severity, and Full-scale Intelligence Quotient (IQ). Analysis of fibular motor nerve amplitude in complementation XP-A correlated with SNHL and MRI/CT severity. Limited follow-up studies showed gradual loss of NCS responses compared to an earlier and more rapid progression of the hearing loss. Conclusions Despite similar brain imaging and audiological findings patients, XP-A and XP-D complementation groups differ in the type of neuropathy, sensorimotor versus sensory alone. A few cases suggest that sensorineural hearing loss may precede abnormal NCS in XP and therefore serve as valuable clinical indicators of XP patients that will later develop peripheral neuropathy.

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“…Written, informed consent and assent, was obtained from all patients. The patients underwent multimodality assessment including clinical 10 , genetic, MRI, neuropsychological, laboratory and electrodiagnostic evaluation. Records of deep tendon re exes were available on most of the subjects evaluated.…”

Section: Methodsmentioning

confidence: 99%

Differences in Peripheral Neuropathy in Xeroderma Pigmentosum Complementation Groups A and D

Lehky

Sackstein²,

Tamura

et al. 2021

Preprint

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BACKGROUNDXeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develop progressive neurological degeneration. Complementation groups XP-A and XP-D are most frequently associated with neurological disorders. METHODSThis is a retrospective review of patients with XP who were evaluated at NIH from 1986 to 2015 and had nerve conduction studies (NCS). Audiological, brain imaging, neuropsychological assessments were also performed on most of the patients. Limited neuropathology of XP-A and XP-D patients were compared. RESULTSThe 33 patients had NCS: XP-A (9 patients), XP-C (7 patients), XP-D (10 patients), XP-E (1 patient), XP-V (4 patients), and XP-unknown (2 patients). Peripheral neuropathy was documented only in two complementation groups: 78% (7/9) of XP-A patients had a sensorimotor neuropathy while 50% (5/10) of XP-D patients had a sensory neuropathy only. The severity of the neuropathy correlated with hearing loss. CONCLUSIONSDespite similar brain imaging and audiological findings patients, XP-A and XP-D complementation groups differ in the type of neuropathy, sensorimotor versus sensory alone. A few cases suggest that sensorineural hearing loss and absent deep tendon reflexes may precede abnormal NCS in XP and therefore serve as valuable clinical indicators of XP patients that will later develop peripheral neuropathy. TRIAL REGISTRATION: Patients were evaluated under clinical protocols, NCT00001813 and NCT00046189, approved by the NIH Institutional Review Boards.

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Xeroderma Pigmentosum Diagnosis Using a Flow Cytometry-Based Nucleotide Excision Repair Assay

Cited by 6 publications

References 12 publications

Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care

Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

Differences in Peripheral Neuropathy in Xeroderma Pigmentosum Complementation Groups A and D

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