|Year : 2018 | Volume
| Issue : 2 | Page : 451-453
Carcinoma esophagus with xeroderma pigmentosa: Case report on a rare association
P Guru Sai Ratna Priya, MG Janaki
Department of Radiotherapy, Ramaiah Medical College, Bengaluru, Karnataka, India
|Date of Web Publication||8-Mar-2018|
Dr. P Guru Sai Ratna Priya
Department of Radiotherapy, Ramaiah Medical College, Triveni Hostel, Room Number: 8, MSRIT Post, MSR Nagar, Mathikere, Bengaluru - 560 054, Karnataka
Source of Support: None, Conflict of Interest: None
Radiation in patients with diseases such as xeroderma pigmentosa (XP), systemic lupus erythematosus, and other connective diseases is a matter of concern because of higher incidence of toxicities. Here with, we are reporting a case of carcinoma esophagus with XP, who tolerated the treatment well with sufficiently prolonged palliation of symptoms, after treatment with external beam radiotherapy. This might be attributed to the different mechanisms of DNA damage and repair mechanisms for ultraviolet (UV) rays and X-rays. UV rays cause DNA damage by dimer formation whereas X-rays will cause single- or double-stranded breaks in DNA. The repair mechanisms for UV rays are nucleotide excision repair and translesion synthesis while for X-rays, they are base excision repair, homologous recombination, and nonhomologous end joining, and these repair mechanisms for X-rays are intact in a XP patient. Hence, they can be been treated with high dose of radiation, and they do tolerate the treatment well.
Keywords: Carcinoma esophagus, radiotherapy, xeroderma pigmentosa
|How to cite this article:|
Ratna Priya P G, Janaki M G. Carcinoma esophagus with xeroderma pigmentosa: Case report on a rare association. J Can Res Ther 2018;14:451-3
| > Introduction|| |
Ionizing radiation plays an important role in the treatment of many malignancies. The extent of DNA damage and repair reflects the tumor response as well as associated adverse effects in normal tissues. In some patients, who have defective DNA repair genes, the side effects are more severe as with systemic lupus erythematosus (SLE), xeroderma pigmentosa (XP), ataxia telangiectasia, Fanconi's anemia, Cockayne syndrome, etc. In such patients, radiation has to be carefully given.
XP is a rare autosomal recessive disorder, in which nucleotide excision repair (NER) enzymes are mutated leading to inability to repair the damaged DNA caused by ultraviolet (UV) radiation causing various malignancies. Here, with we are reporting a case of carcinoma esophagus with XP, who had sufficiently prolonged palliation of symptoms.
| > Case Report|| |
A 30-year-old female presented with a history of difficulty in swallowing for 3 months, which was gradually progressive and associated with pain, weight loss, and loss of appetite. She also had occasional cough on swallowing food. She was treated for pulmonary tuberculosis 4 years back. On physical examination she was moderately built, poorly nourished, and did not have any palpable lymphadenopathy. She had multiple hyperpigmented and hypopigmented patches all over her body, more over the sun-exposed areas, and few solitary nodules on dorsal aspect of the left hand [Figure 1] and [Figure 2]. She was evaluated with upper gastrointestinal endoscopy and biopsy. Endoscopy showed a circumferential, ulceroproliferative, stricturous growth at 30 cm and scope could not be passed beyond due to luminal compromise. Histopathological examination of biopsy from esophageal growth showed moderately differentiated squamous cell carcinoma (SCC). Since her socioeconomic status was poor, we could not do genetic polymorphism studies for XP.
|Figure 1: Hypopigmented and hyperpigmented lesions on the dorsal aspect of hand|
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|Figure 2: Multiple hyper and hypopigmented patches on the face of the patient|
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She was treated with external beam radiotherapy (EBRT) to a dose of 3960 cGy/22 fractions on cobalt-60 radiotherapy unit, from April 2, 2013, to May 2, 2013. She tolerated the treatment well with good symptomatic relief and weight gain on first follow-up of 6 weeks. Barium swallow during first follow-up showed good response. Since there was good symptomatic relief and good response, EBRT was continued with a boost of 16 Gy/8 Fr. She was on regular follow-up and had good weight gain. Post-EBRT, after an interval of 2 years and 5 months, the patient presented with progressive dysphagia, for which she was investigated and found to have local recurrence. She was put on Ryles tube feeds and discharged. She survived for 3 years, post treatment.
| > Discussion|| |
In XP, because of mutations in NER DNA repair genes, the skin gets very thin and patches of varying color (splotchy pigmentation) appear on exposure to sunlight. In addition, they are at a high risk for developing cancers, most common being skin malignancies such as basal cell carcinoma, SCC, melanoma and keratoacanthoma, followed by internal malignancies involving lungs, brain, spinal cord, and esophagus. Among eight complementation groups, XP A-G and XP variant XPC and XPD are commonly associated with carcinoma esophagus., Radiation in patients with diseases such as XP, SLE, and other connective diseases is a matter of concern because of higher incidence of toxicities. XP cells are hypersensitive to killing by UV rays, but they have normal killing after X-rays, which is evident from the mechanism of DNA damage and their repair mechanisms. UV rays cause DNA damage by dimer formation whereas X-rays will cause single- or double-stranded breaks in DNA. The repair mechanisms for UV rays are NER and translesion synthesis while for X-rays, they are base excision repair, homologous recombination, and nonhomologous end joining, these repair mechanisms for X-rays are intact in a XP patient. Hence, they can be been treated with high dose of radiation and they do tolerate the treatment well.
In the literature, there are different views on radiosensitivity of XP patients. Rogers et al. have observed nonhealing desquamation of skin in a patient with angiosarcoma of scalp. DiGiovanna et al. have treated spinal cord astrocytoma in XP patient, and there were no excessive acute skin reactions, and the patient survived for 9 years post treatment. Schaffer and Orlow reported two cases of SCC of skin, and they observed no acute or chronic complications with standard radiotherapy regimens. Sibar et al. in their case series of 11 XP patients with skin malignancies of various histologies reported that tumor-free resection and graft placement are safe in these patients. In addition, adjuvant treatment (chemotherapy/radiotherapy ± interferon) was given to eight patients, and there was no higher incidence of morbidity. To the best of our knowledge, this is the first case report on XP and carcinoma esophagus, and our patient responded well for radiation with no acute or chronic toxicities.
Genetic studies such as unscheduled DNA synthesis, a method to measure the cellular NER capacity will be useful to assess the cellular radiosensitivity. This will probably help us in tailoring the supportive care for each patient.
| > Conclusion|| |
Internal malignancies such as carcinoma esophagus can be associated with XPC and XPD subtypes. The presence of XP does not preclude curative approach. Radiotherapy is safe as the required DNA repair mechanisms are intact in these patients and long-term control can be expected.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]