Familial Warthin Tumor: Occurrence in Monozygotic Twins

Familial Warthin Tumor: Occurrence in Monozygotic Twins

1400 FAMILIAL WARTHIN TUMOR J Oral Maxillofac Surg 68:1400-1401, 2010 Familial Warthin Tumor: Occurrence in Monozygotic Twins Lorena Gallego, MD, D...

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FAMILIAL WARTHIN TUMOR

J Oral Maxillofac Surg 68:1400-1401, 2010

Familial Warthin Tumor: Occurrence in Monozygotic Twins Lorena Gallego, MD, DDS,* Luis Junquera, MD, DDS, PhD,† Pedro Villarreal, MD, DDS, PhD,‡ and Lucas Villalaín, MD, DDS, PhD§ Cystadenolymphoma (Warthin tumor [WT]) represents about 2% to 15% of all parotid tumors and is ranked second in frequency after pleomorphic adenoma.1 WTs have a significantly higher incidence in the male population than in the female population, and most of the patients are in the fifth or sixth decade of life.2 Multiple tumors of the salivary glands are very rare, and pleomorphic adenomas and WTs are the most commonly encountered. Multifocal WTs in the same gland occur in 4% to 23% of cases, whereas bilateral WTs are much more uncommon.1,2 WTs occurring in a familial setting have been rarely described, with only 4 reports in the literature.3-6 Two of them were reported in brothers3,5 and 2 in a mother and son.4,6 We report a familial occurrence of WT in monozygotic twins—to our knowledge, the first case described in the literature—and discuss possible etiologic factors.

cm, which was elastic, movable, and nontender. There was no facial palsy or regional lymphadenopathy. A computed tomography scan showed a well-defined nodule of solid structure in the superficial lobe of the left parotid gland (Fig 1A). The findings of fine-needle aspiration cytology were suggestive of cystadenolymphoma. One month later, the patient underwent left superficial parotidectomy, including the removal of the mass, with preservation of the facial

Report of a Case A 45-year-old man presented in 2004 for evaluation of a palpable mass in the left parotid region. The patient denied radiation exposure or a history of smoking. Physical examination showed a painless mass measuring about 1.5 ⫻ 1.5 *Attending, Department of Oral and Maxillofacial Surgery, Central University Hospital, Oviedo, Spain. †Professor of Oral and Maxillofacial Surgery, University of Oviedo, and Staff Surgeon, Department of Oral and Maxillofacial Surgery, Central University Hospital, Oviedo, Spain. ‡Staff Surgeon, Department of Oral and Maxillofacial Surgery, Central University Hospital, Oviedo, Spain. §Staff Surgeon, Department of Oral and Maxillofacial Surgery, Central University Hospital, Oviedo, Spain. Address correspondence and reprint requests to Dr Junquera: Department of Oral and Maxillofacial Surgery, Central University Hospital, Celestino Villamil s/n, 33009, Oviedo, Asturias, Spain; e-mail: [email protected] © 2010 American Association of Oral and Maxillofacial Surgeons

0278-2391/6806-0030$36.00/0 doi:10.1016/j.joms.2009.04.134

FIGURE 1. A, Computed tomography image showing rounded, well-defined mass in superficial lobe of the left parotid gland. B, Computed tomography image of second twin showing similar mass in deep lobe of the left parotid gland. Gallego et al. Familial Warthin Tumor. J Oral Maxillofac Surg 2010.

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GALLEGO ET AL nerve and its branches. The definitive histology was compatible with WT. The postoperative course was uneventful, and no recurrence or other tumors were observed. Two years later, the patient’s twin brother presented with a similar mass in the same region. This patient also denied a history of smoking. Physical examination showed a tender elastic mass palpable on the left parotid gland. Neither facial palsy nor cervical lymphadenopathy was observed. A computed tomography scan showed a 2 ⫻ 2– cm nodule in the deep lobe of the left parotid gland (Fig 1B). A diagnosis of cystadenolymphoma was made based on the findings of fine-needle aspiration cytology. Three months later, a conservative parotidectomy was performed with the patient under general anesthesia, including the removal of the mass, with preservation of the facial nerve and its branches. A diagnosis of papillary WT was made based on the characteristic clinicopathologic findings. The postoperative course was uneventful.

Discussion WT is characterized by cystic spaces lined by papillations of bilayered oncocytic or eosinophilic epithelium whose supporting stroma is composed largely of lymphoid tissue. Different histologic subtypes have been described, with possible implications related to the pathogenic development or evolution of the lesion.1,2 WT has been the subject of controversy since its earliest description. Some authors consider that this tumor develops as a result of salivary gland heterotopia; the tumor lymphocytes represent previously normal residual lymph node tissue within which the epithelial component has come to proliferate. The second theory considers the lymphocytic infiltration to constitute an inflammatory lymphoid cell response to an epithelial neoplasm.2 Cytogenetic abnormalities have been identified in WT, supporting the heterotopic theory rather than an autoimmune or hypersensitivity-related tumor-like proliferation.7-9 A complex translocation involving t(11;19)(q21;p13) was detected in rare cases, although when the fusion gene is present in this tumor type, it seems to be restricted to special cases with indeterminate morphology and may constitute a definitive subgroup.8 Interestingly, a similar translocation involving t(11;19)(q14-21;p12) was also documented in mucoepidermoid carcinomas of the salivary glands.8,9 In contrast, cases showing reciprocal translocations involving the 6p region were also described, suggesting that the short arm of chromo-

some 6 contains a region consistently involved in the origin of WT.8 Loss of chromosome Y was also reported, but this characteristic can occur in the normal bone marrow of elderly men and it is generally believed that it is not pathologically meaningful.7,8 However, WTs usually present a normal karyotype.9 To our knowledge, this is the fourth report of familial WT and the first described in monozygotic twins. The larger size of the tumor in the second twin suggests that both WTs may have occurred synchronously but were detected in different phases. It is possible that this event may have involved common genetic factors affecting both twins. The previously described findings of similar genetic alterations seen in some patients with WT may support this hypothesis. Besides, the age of our patients, in the mid fourth decade (nearly 10 to 15 years younger than the average age of presentation), is in agreement with the familial cases of WT in 3 brothers reported by Talmi et al,5 and may also support an underlying etiology for familial development of these lesions. However, environmental factors, such as tobacco use or radiation, were not associated with our cases. Unfortunately, the small number of cases of familial salivary gland neoplasms to date has made it difficult to determine their cause, and alternatively, these findings may be the result of mere coincidence.

References 1. Maiorano E, Lo Muzio L, Favia G, et al: Warthin’s tumour: A study of 78 cases with emphasis on bilaterality, multifocality and association with other malignancies. Oral Oncol 38:35, 2002 2. Teymoortash A, Krasnewicz Y, Werner JA: Clinical features of cystadenolymphoma (Warthin’s tumor) of the parotid gland: A retrospective comparative study of 96 cases. Oral Oncol 42:569, 2006 3. Skerlavay MA, Gardner B, Nicastri AD: Warthin’s tumour in two brothers [letter]. Arch Pathol Lab Med 100:508, 1976 4. Noyek AM, Pritzker KP, Greyson ND, et al: Familial Warthin’s tumour. 1. Its synchronous occurrence in mother and son. 2. Its association with cystic oncocytic metaplasia of the larynx. J Otolaryngol 9:90, 1980 5. Talmi YP, Horowitz Z, Odenheimer NS, et al: Familial occurrence of Warthin’s tumour. J Otolaryngol 23:206, 1994 6. Russo F, Coscarella G, Prisco LA, et al: Cistoadenolinfoma delle ghiandole salivari: Esiste un ruolo della familiarità? Ann Ital Chir 2:233, 1999 7. Nordkvist A, Mark J, Dahlenfors R, et al: Cytogenetic observations in 13 cystadenolymphomas (Warthin’s tumors). Cancer Genet Cytogenet 76:129, 1994 8. Martins C, Fonseca I, Roque L, et al: Cytogenetic characterisation of Warthin’s tumour. Oral Oncol 33:344, 1997 9. Fehr A, Röser K, Belge G, et al: A closer look at Warthin tumors and the t(11;19). Cancer Genet Cytogenet 180:135, 2008