A case of dyskeratosis congenita with squamous cell carcinoma of the maxilla: A case report and review of the literature

A case of dyskeratosis congenita with squamous cell carcinoma of the maxilla: A case report and review of the literature

Oral and Maxillofacial Surgery Cases 6 (2020) 100140 Contents lists available at ScienceDirect Oral and Maxillofacial Surgery Cases journal homepage...

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Oral and Maxillofacial Surgery Cases 6 (2020) 100140

Contents lists available at ScienceDirect

Oral and Maxillofacial Surgery Cases journal homepage: www.oralandmaxillofacialsurgerycases.com

A case of dyskeratosis congenita with squamous cell carcinoma of the maxilla: A case report and review of the literature John M. Le, DDS *, Michael T. Kase, DMD, Anthony B. Morlandt, DDS, MD Department of Oral and Maxillofacial Surgery, University of Alabama at Birmingham, School of Dentistry, USA

A R T I C L E I N F O

A B S T R A C T

Keywords: Dyskeratosis congenita Oral cancer Squamous cell carcinoma Maxillectomy Congenital disorder

Dyskeratosis congenita (DC) is commonly diagnosed clinically with three classic findings of 1) oral leukoplakia, 2) nail dystrophy, and 3) abnormal skin pigmentation. It is commonly associated with bone marrow failure, increased predisposition for malignancies and a variety of additional somatic features. Nearly 70% of patients with DC present with oral leukoplakia, a lesion with up to a 34% chance of malignant transformation [5,13]. Although oral squamous cell carcinoma (OSCC) is the most common malignant transformation of long-standing leukoplakia, a limited number of cases have been reported in patients with DC. Most of which, involved the tongue and buccal mucosa. A retrospective chart review and literature review of DC and OSCC was completed for this article. We present a patient with DC who presented with OSCC involving the maxilla. The patient underwent a partial maxillectomy, skin grafting and obturator placement. There was no evidence of recurrence or new disease at the 15-month mark. OSCC in patients with DC is un­ common, but with close surveillance and thorough oral cavity examinations by a health profes­ sional, malignant transformations can be detected and treated at an early stage.

1. Introduction Initially referred to as Zinsser-Cole-Engman syndrome, dyskeratosis congenita (DC) is diagnosed clinically with the classic triad of skin findings: 1) nail dystrophy 2) abnormal skin pigmentation and 3) oral leukoplakia. It is a rare inherited disorder that affects approximately 1 in 1 million people, and associated with bone marrow failure, increased risk for malignancy and additional somatic abnormalities. Severity of the disorder and its phenotypic features depend on genetic penetrance with the most severe variants associated with the greatest reduction in telomere length [1–4]. As a result, the true prevalence of the DC is unknown. Although having the classic triad can assist with a diagnosis of DC without genetic testing, individuals often do not have all three features upon presentation. In a review that included 550 cases, only 75% of patients had at least one of the three classic manifes­ tations, with 46% having all three findings [1]. Additional somatic features that are less common include pancytopenia, epiphora, dental caries, periodontitis, premature hair loss and graying of hair, enteropathy/enterocolitis and many more [5–7]. With relation to dental and oral findings, a cohort of 17 patients with DC demonstrated common clinical findings of oral leukoplakia, decreased crown/root ratio, and mild taurodontism [5]. When treating patients with DC, a thorough family history, review of medical history, and physical examination should be completed to document the features of DC. In addition, these patients will benefit from close surveillance for additional clinical

* Corresponding author. SDB 419, School of Dentistry Building, 1919 7th Ave S, Birmingham, AL, 35233, USA. E-mail addresses: [email protected] (J.M. Le), [email protected] (M.T. Kase), [email protected] (A.B. Morlandt). https://doi.org/10.1016/j.omsc.2020.100140 Received 4 October 2019; Received in revised form 17 December 2019; Accepted 18 January 2020 Available online 20 January 2020 2214-5419/Published by Elsevier Inc. This is an open access article under (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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Oral and Maxillofacial Surgery Cases 6 (2020) 100140

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Fig. 1. Lacy reticular pigmentation on neck.

Fig. 2. Nail dystrophy.

2

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Fig. 3. Pre-operative CT neck, axial view. Left, bone window. Right, soft tissue window. Red arrow points to area of lesion.

manifestations that may occur at later stages in life including cancer and organ dysfunction. With the advent of genetic testing, identification of shared genetic mutations can assist with the diagnosis of less penetrant features in family members [8–10]. Oral leukoplakia or erythroleukoplakia increases risk for malignancy, particularly, epithelioid carcinomas. As a result, it is rec­ ommended that patients with DC have close surveillance by their medical practitioner in the case that a referral is indicated for a biopsy to rule out malignancy. Squamous cell carcinoma is the most common malignant transformation resulting from longstanding oral leukoplakia [11,12]. Although oral leukoplakia may be identified in nearly 70% of patients with DC, only a few cases have been reported with malignant transformation [5]. Based on a 2015 systematic review, the estimated overall mean malignant transformation rate of oral leukoplakia in patients with DC ranged from 0.13% to 34% [13]. Not surprisingly, this is due to the variance in biological behavior based on the clinical characteristics (thin, thick/homogenous, granular, verruciform, and erythroleukoplakic) of the lesion [14]. In our literature search, only five cases of squamous cell carcinoma of the tongue and one affecting the buccal mucosa were reported in patients with DC [15–20]. Here, we describe an adult patient with clinically diagnosed DC without prior genetic testing, who presented with squamous cell carcinoma of the maxilla. Reported cases of OSCC in patients with DC is uncommon, and involvement of the maxilla is even more rare. 2. Materials and methods A retrospective chart review was completed. Based on a review of regulations by the University of Alabama at Birmingham Institutional Review Board for Human Use (IRB), the study is deemed exempt and is in compliance with the Helsinki Declaration. A PubMed search performed on August 2019 for the key words “dyskeratosis congenita”, “oral cancer”, and “squamous cell carcinoma” resulted in six case reports of patients with DC and diagnosed oral squamous cell carcinoma (OSCC). Five cases involved the tongue and one involved the buccal mucosa [15–20]. None identified tumors arising from the jaws or facial skeleton. In our case report, we present a rare case of squamous carcinoma involving the maxilla in an adult patient with clinically diagnosed DC. 3. Case report 3.1. History We present a 36-year-old male with clinically diagnosed DC in 2008. The patient did not have prior genetic testing for DC mu­ tations, but has the classic triad of DC: 1) dysplastic nails, 2) lacy reticular pigmentation of the skin involving his neck and upper chest, and 3) oral leukoplakia (Figs. 1 and 2). In addition, he has other features of DC which includes: 1) a history of multiple squamous cell carcinoma (SCC) involving the gluteal cleft, peri-rectal, perineum, scrotum, and inguinal crease, 2) epiphora, 3) thrombocytopenia, and 4) periodontal disease. No direct family members have been genetically tested for DC. The patient has a brother with clinical 3

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Fig. 4. Tissue specimen.

findings of dysplastic nails, periodontal disease and alopecia. Both parents did not have features of DC that were reported, and he does not have any children. He is a former pipe smoker and does not consume alcohol or use illicit drugs. 3.2. Clinical findings The patient was referred to our oral oncology clinic after a biopsy-proven SCC of the maxillary gingiva. Three months prior to presenting to the clinic, he noticed a painless raised leukoplakic lesion on the anterior maxillary alveolar ridge. The patient was then provided an anti-fungal medication by an outside provider and lost to follow-up for a two-month period. After no clinical improve­ ment, the patient visited an oral surgeon, who performed an incisional biopsy, which resulted as superficially invasive welldifferentiated SCC. The patient was then referred to our team for staging and treatment. Following the pathology result, computed tomography (CT) of the neck and chest were completed and revealed no evidence of local or distant metastasis. Unfortunately, the CT neck imaging was not able to identify distinct evidence of cortical erosion of the maxilla (Fig. 3). Therefore, the clinical staging for the tumor was T1N0M0 vs T4aN0M0 due to the possibility of bone erosion through the periodontal space of adjacent teeth. Due to having DC, a history of multiple SCC, and bone marrow failure, the patient’s medical oncologist recommended conservative surgical therapy that would exclude a microvascular free tissue transfer. Therefore, the planned surgery was a partial maxillectomy, extraction of indicated teeth, a split-thickness skin graft, and the placement of a maxillary prosthesis. Since a free tissue transfer was not planned to reconstruct the projected maxillary defect, the involvement of the maxillofacial prosthodontist was crucial in fabricating an obturator that would seal the defect site and provide adequate underlying soft tissue support. 3.3. Surgical plan and treatment After optimization for his thrombocytopenia, the patient underwent a partial maxillectomy, which included multiple teeth, and a partial-thickness skin graft from the thigh (Fig. 4). This resulted in a Brown Class 2C defect. A prefabricated obturator was then fitted 4

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Fig. 5. 15-month follow-up.

and secured with three titanium screws into the native maxilla. The final pathological staging was a pT1 invasive well-differentiated keratinizing squamous cell carcinoma with verrucoid/ver­ rucous features and a 3.5 mm depth of invasion (DOI). Continual 2-3-month post-operative follow-up clinic appointments revealed no new clinical disease and no deficits in speech or function with the prosthesis in place. Follow-up CT imaging of the neck at the 4-month mark and chest radiograph at the 15-month mark revealed no evidence of recurrent disease (Fig. 5). 3.4. Prosthetic plan and treatment The prosthetic phase of treatment was based on the Memorial Sloan-Kettering Cancer Center protocol and literature. The patient presented for initial impressions including 2 maxillary, 1 mandibular. Records were obtained for manipulation and orientation in the lab. Records include bite registration and shade selection. The cast was brought to the attending surgeon and the proposed surgical margins were drawn. The cast was adjusted to allow for surgically removed bone and tissues while decreasing any pressure to a potential skin graft to the walls of the defect. A surgical obturator was constructed utilizing light cured resin (Interra Eclipse, Dentsply Sirona). The prosthesis was polished and sterilized and given to the surgical team for delivery. At the time of surgery, after resection of the tumor, communication with the surgical team was invaluable so as to determine if the proposed surgical margins were correct. This includes bone, soft tissue and dentition. Once the definitive architecture was established, the interim obturator prosthesis was fabricated using heat processed acrylic, wrought wire clasps and denture teeth. This prosthesis was then ready for delivery 7–10 days post-resection at the packing removal appointment. The patient was managed for 4 months with relines and adjustments until surgical sites were healed. At this time, the definitive prosthesis was fabricated. At the following surveillance appointments, the discussion of endosseous implant-supported removable dental prosthesis had been discussed with the patient in detail, but due to the need for additional bone-grafting procedures and the costs associated with these elective procedures, the patient chose to defer additional surgeries at that time. 4. Discussion Oral leukoplakia is very common clinical finding and presents as one of the classic features in patients with underlying dyskeratosis congenita syndrome. Due to the increased risk for organ dysfunction, bone marrow failure and predisposition to malignancies, close surveillance and screening of patients with DC is crucial in managing early stage cancer(s), blood dyscrasias, and symptoms associated with organ dysfunction. Bi-annual surveillance and close monitoring of oral leukoplakia by a dentist or oral and maxillofacial surgeon can prevent late stage diagnosis of oral squamous cell carcinoma (OSCC) and allow for more conservative surgical procedures that will 5

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not result in significant orofacial deformity. Although the majority of reported OSCC in patients with DC involved the tongue or buccal mucosa, we report a less common finding of OSCC involving the maxilla. Fortunately, the lesion was detected and treated at early stage (pT1) where local and distant metastasis had not occurred. Resection and close surveillance with follow-up imaging have concluded with no recurrence or new disease to this date. Funding sources This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. Declarations of interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Conflicts of interest None. References [1] Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010;24:101. https://doi.org/10.1016/j. blre.2010.03.002. [2] Alter BP, Rosenberg PS, Giri N, et al. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 2012; 97:353. https://doi.org/10.3324/Fhaematol.2011.055269. [3] Savage SA, Cook EF. Dyskeratosis congenita and telomere biology disorders: diagnosis and management guidelines. New York, NY: Dyskeratosis Congenita Outreach Inc; 2015. [4] Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood 2009;113:6549. https://doi.org/10.1182/blood-2008-12-192880. [5] Atkinson Jane C, et al. Oral and dental phenotype of dyskeratosis congenita. Oral Dis 2008;14(5):419–27. https://doi.org/10.1111/j.1601-0825.2007.01394.x. [6] Dyskeratosis congenita and telomere biology disorders: diagnosis and management guidelines. In: Savage SA, Cook EF, editors. Dyskeratosis congenita outreach, inc. first ed.; 2015 (Available online at: www.dcoutreach.org/guidelines. [7] Dokal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program 2011;2011:480. https://doi.org/10.1182/asheducation-2011.1.480. [8] Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010;150:179. https://doi.org/10.1111/j.1365-2141.2010.08212.x. [9] Dokal I, Vulliamy T, Mason P, Bessler M. Clinical utility gene card for: dyskeratosis congenita - update 2015. Eur J Hum Genet 2015;23. https://doi.org/ 10.1038/ejhg.2011.90. [10] Savage SA. Dyskeratosis congenita. Nov 12 [Updated 2016 May 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [internet]. Seattle: Seattle (WA): University of Washington; 2009. p. 1993–2017. Available from: https://www.ncbi.nlm.nih.gov/sites/books/NBK22301/. [11] B� an� oaczy J. Oral leukoplakia and other white lesions of the oral mucosa related to dermatological disorders. J Cutan Pathol 1983;10(4):238–56. https://doi. org/10.1111/j.1600-0560.1983.tb01490.x. [12] Neville Brad W, Day Terry A. Oral cancer and precancerous lesions. Ca - Cancer J Clin 2002;52(4):195–215. https://doi.org/10.3322/canjclin.52.4.195. [13] Warnakulasuriya S, Ariyawardana A. Malignant transformation of oral leukoplakia: a systematic review of observational studies. J Oral Pathol Med 2016;45(3): 155–66. https://doi.org/10.1111/jop.12339. [14] Masthan KMK, et al. Leukoplakia: a short review on malignant potential. J Pharm BioAllied Sci 2015;7(Suppl 1):S165. https://doi.org/10.4103/F09757406.155890. [15] Bongiorno Michelle, et al. Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. Oral Surg Oral Med Oral Pathol Oral Radiol 2017;124(4):e239–42. https://doi.org/10.1016/j.oooo.2017.08.001. [16] Baykal C, et al. Dyskeratosis congenita associated with three malignancies. J Eur Acad Dermatol Venereol 2003;17(2):216–8. https://doi.org/10.1046/j.14683083.2003.00585.x. [17] Moretti S, et al. Oral carcinoma in a young man: a case of dyskeratosis congenita. J Eur Acad Dermatol Venereol 2000;14(2):123–5. https://doi.org/10.1046/ j.1468-3083.2000.00029.x. [18] Hyodo Masamitsu, et al. Tongue cancer as a complication of dyskeratosis congenita in a woman. Am J Otolaryngol 1999;20(6):405–7. https://doi.org/10.1016/ S0196-0709(99)90082-0. [19] Anil S, et al. Oral squamous cell carcinoma in a case of dyskeratosis congenita. Ann Dent 1994;53(1):15–8. [20] Fatehi KS, et al. Squamous cell carcinoma of the tongue in a patient with dyskeratosis congenita: a rare entity. Br J Oral Maxillofac Surg 2019;57(1):79–81. https://doi.org/10.1016/j.bjoms.2018.12.002.

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