|Year : 2019 | Volume
| Issue : 1 | Page : 29-32
Radiotherapy as a primary treatment modality for squamous cell carcinoma of tongue in a case of xeroderma pigmentosum
Sakina Mankada, Ankita Parikh, Parag Roy, Amit Kichloo, Ubrangala Suryanarayana
Department of radiation oncology, Gujarat cancer research institute and BJMC, Ahmedabad, India
|Date of Web Publication||26-Jun-2019|
Dr. Sakina Mankada
A2 Amardeep Apartments, Civil Hospital Road, Ahmedabad, Gujarat
Source of Support: None, Conflict of Interest: None
Radiation therapy (RT) represents a important modality for treatment of malignancies in patients of xeroderma pigmentosa (XP). There are only few reports of radiation being primary treatment and thus we report a case of twelve year old female with XP presented with squamous cell carcinoma of tongue and lower lip treated with radiation at our institute. DNA damage by radiation is repaired by base excision repair, non homologous end joining and homologous combination in contrast to XP in which defect lies with nucleotide excision repair genes and therefore clinical and cellular response to RT is similar in XP as seen with other patients.
Keywords: Radiation therapy, treatment response, xeroderma pigmentosum
|How to cite this article:|
Mankada S, Parikh A, Roy P, Kichloo A, Suryanarayana U. Radiotherapy as a primary treatment modality for squamous cell carcinoma of tongue in a case of xeroderma pigmentosum. J Curr Oncol 2019;2:29-32
| Introduction|| |
Xeroderma pigmentosum (XP) is characterized by mucocutaneous and ocular hypersensitivity to ultraviolet (UV) radiation with irreparable deoxyribonucleic acid (DNA) damage and subsequent malignant changes. The specific defect lies in nucleotide excision repair (NER) of UV-induced DNA lesions but their cellular and clinical response to ionizing radiation (IR) is normal. The effectiveness and toxicity of radiation therapy (RT) in patients of XP with malignancy have been reported infrequently. Thus, we report a case of 12-year-old girl with XP who developed squamous cell carcinoma (SCC) of tongue and lower lip and who was treated with standard-dose regimen of RT as primary treatment at our institute.
| Case Report|| |
In August 2017, a 12-year-old girl with XP presented at our institute with a painful growth over tongue and lower lip, which gradually increased in size for 1 month. On clinical examination, a small erythematous and indurated area was present over the tip and right lateral border of tongue. A separate ulcerated lesion was also noted over right side of the lower lip. No clinically palpable cervical lymph nodes were present. The patient had multiple “salt-and-pepper”-like pigmented lesions over entire body [Figure 1] since 2 years of age. She was also advised by a dermatologist for sun protection measures such as long clothing, hats, and creams. She developed gradual clouding of both eyes with photophobia and redness since 4 years of age. She also developed two benign scalp lesions in May 2015, and December 2017, which were pathologically suggestive of intradermal capillary hemangioma and telangiectasia, respectively [Figure 2]. She did not develop any neurodegenerative abnormalities or impairment of intelligence. Similar cutaneous lesions also developed in her brother since birth but both her sisters are disease free.,
All routine blood investigations and chest X-ray were normal. Punch biopsy of lower lip and tongue lesion was suggestive of well-differentiated SCC. Computed tomography (CT) of paranasal sinuses (PNS) and neck depicted a 13 × 4mm soft tissue thickening on right anterolateral margin of tongue. Few sub-centimeter nodes were present in right level II, but scan didn’t mentioned about the lesion over lower lip [Figure 3].
|Figure 3: CT PNS and neck showing lesion in right lateral border of tongue|
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After multidisciplinary discussion with medical and surgical oncologist, the patient was planned for neoadjuvant chemotherapy to downstage tumor bulk followed by radiation with omission of surgical resection. This approach was accepted in view of multicentric disease and younger age to preserve function with good cosmesis. In addition, she had reached pubertal age and had started menstruation; standard dose of radiation would not cause any dentition abnormalities and other bony defects. She received three cycles of paclitaxel and carboplatin from November 12, 2017, to October 23, 2017, three times per week and was referred to the radiation oncology department. She received external beam radiation with 6600 cGy in 33 fractions (5 days in a week) by intensity modulated radiotherapy (IMRT) planning, including tongue and lip lesions [Figure 4] with 6 MV photons from February 21, 2018, to April 18, 2018, at 200 cGy per fraction over six and a half weeks. She developed grade 3 oral mucositis and moderate conjunctivitis during 2nd week of treatment for which symptomatic treatment was given. She tolerated radiotherapy treatment well without any discontinuation and continued with oral intake till completion of treatment. On October 1, 2018, contrast enhanced computed tomography PNS and neck showed no evidence of any abnormally enhancing lesion in tongue and the lesion over lower lip disappeared on clinical examination.
| Discussion|| |
XP, an autosomal-recessive disorder, was first described by Hebra and Kaposi. Later in 1882, Kaposi coined the term “xeroderma pigmentosum” for characteristic dry and pigmented skin; hence, XP is also known as Kaposi disease. Clinical features include photosensitivity, premature skin aging, and increased risk to malignancies. Most common skin neoplastic changes include actinic keratosis [Figure 5], basal cell carcinoma, SCC, and malignant melanoma.
|Figure 5: Histological feature of actinic keratosis with atypia of keratinocyte and parakeratosis in xeroderma pigmentosum|
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In general population, oral SCCs most frequently affect the posterolateral and ventral surface of tongue and floor of mouth in elderly people having tobacco and alcohol addiction, and run an aggressive course. In contrast, SCC associated with XP affects the tip of the tongue, is slowly progressive in nature, and is commonly seen in patients younger than 20 years of age. There has been paucity of literature on the effectiveness and toxicity of radiotherapy in the treatment of malignancies associated with XP. DNA damage resulting from IR is repaired primarily by base excision repair and nonhomologous end joining and homologous recombination rather than that by NER, which is defective in XP, and thus hypersensitivity to IR would not be anticipated [Figure 6].
|Figure 6: DNA damage by UV rays and ionizing radiation and repair mechanism|
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| Conclusion|| |
The majority of reported patients with XP treated with RT experienced no acute or chronic complications. This report draws attention to RT as a primary treatment option for SCC of tongue in patients with XP with functional organ preservation and better cosmetic results, specifically in children with XP.
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.
| References|| |
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Fromm LJ, James WD. Xeroderma pigmentosum. Available from: emsedicine.medscape.com/article/1119902-overview. [Last accessed on 2016 June 10].
Lynch HT, Anderson DE, Smith JL, Howell JB, Krush AJ. Xeroderma pigmentosum, malignant melanoma, and congenital ichthyosis. Arch Derm 1967;96:625-35.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
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|[Pubmed] | [DOI]|