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Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome
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Annals of Diagnostic Pathology 16 (2012) 485 – 488
Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome Jason Smith, FRACGPa,⁎, Karen Crowe, MScb , Julie McGaughran, FRACPc , Thomas Robertson, FRCPAa a
Pathology Queensland, Royal Brisbane and Women's Hospital, Herston QLD 4029, Australia b Genetic Health Queensland, Nambour QLD 4560, Australia c Genetic Health Queensland, Herston QLD 4029, Australia
Abstract
Keywords:
This is the first reported case of a sebaceous adenoma arising within an ovarian mature cystic teratoma in a patient with Muir-Torre syndrome. The pathologic findings and a literature review are presented, including the importance and possible benefits of an early diagnosis of Muir-Torre syndrome. It is proposed that the presence of a sebaceous adenoma in an ovarian cystic teratoma may serve as a useful trigger to consider further history and investigations, with the goal of identifying an important genetic cancer predisposition syndrome. Crown Copyright © 2012 Published by Elsevier Inc. All rights reserved. Sebaceous adenoma; Ovarian mature cystic teratoma; Muir-Torre syndrome; Lynch syndrome
1. Introduction
2. Case report
The association of cutaneous sebaceous adenoma and Muir-Torre syndrome is well described. This is, to our knowledge, the first reported case of sebaceous adenoma arising within an ovarian mature cystic teratoma (dermoid cyst) in a patient with documented Muir-Torre syndrome. The pathologic findings are described, and a brief literature review is presented. In addition to being an interesting case, the apparent association of sebaceous adenoma in a dermoid cyst with Muir-Torre syndrome may be of use in helping to diagnose others with MuirTorre syndrome at an early stage. Just as with cutaneous sebaceous adenomas, the presence of a sebaceous adenoma in a dermoid cyst may be a useful trigger to consider further investigations such as immunohistochemistry for mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, and PMS2) and exploration of personal and family history to potentially identify a clinically important genetic cancer predisposition syndrome.
A 52-year-old woman had a cutaneous lesion biopsied from the right nasolabial fold in January 2010, which was diagnosed as a sebaceous adenoma. This was tested for the presence of MMR proteins by immunohistochemistry, which showed loss of nuclear reactivity for the MMR proteins MSH2 and MSH6. There was positive (retained) nuclear reactivity for MLH1 and PMS2. The patient had a history of multiple different malignancies. In 2006, she was diagnosed with invasive ductal carcinoma and ductal carcinoma in situ in her left breast, which was treated with surgery, radiotherapy, and oral tamoxifen. In addition to the cutaneous sebaceous adenoma, she had a history of several basal cell carcinomas, a keratoacanthoma, and 2 intraepidermal carcinomas. In 1995, the patient had bilateral ovarian cystectomies for mature cystic teratomas. On reviewing her family history, it is possible that her father may have had Lynch and/or MuirTorre syndrome as he had had esophageal and bladder cancer and had had multiple skin lesions removed, although the details of the cutaneous pathology are not known. She attended for genetic counseling, and subsequent mutation screening of the MSH2 gene was undertaken, which revealed that she had an MSH2 mutation (heterozygous
⁎ Corresponding author. Tel.: +61736365724. E-mail addresses: [email protected], [email protected] (J. Smith).
1092-9134/$ – see front matter. Crown Copyright © 2012 Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.anndiagpath.2011.04.003
486
J. Smith et al. / Annals of Diagnostic Pathology 16 (2012) 485–488
mutation MSH2:c.803CNA). This mutation is predicted to result in either premature termination of translation producing a truncated protein or nonsense-mediated messenger RNA decay. The patient's history of sebaceous adenoma and heterozygous MSH2 mutation are consistent with Muir-Torre syndrome [1]. It is interesting to note that when immunohistochemistry for MMR proteins was retrospectively performed on her previous breast cancer, there was no loss of normal staining. This suggests that her breast cancer is coincidental rather than a manifestation of her Muir-Torre syndrome. Given the associated risk of ovarian and endometrial cancers in Muir-Torre syndrome, as well as the risk of tamoxifen-associated endometrial cancer, the patient was offered and opted for prophylactic hysterectomy and bilateral salpingo-oophorectomy. Unexpectedly, a routine preoperative pelvic ultrasound showed a large left adnexal mass measuring up to 110 mm in diameter, with regions of hyperechogenicity and hypoechogenicity. At surgery, the
large left adnexal mass was resected and intraoperative frozensection consultation indicated a mature cystic teratoma (dermoid cyst). The uterus and right adnexa were also removed. The patient had an unremarkable postoperative course and was discharged home on the fourth day. In addition to postoperative follow-up with the gynecologic surgeons, the patient has also been referred to a gastroenterologist for gastrointestinal surveillance, and her family have been offered genetic counseling and testing.
3. Materials and methods The surgical specimen was initially sampled for frozensection assessment. The specimen was then fixed in 10% neutral-buffered formalin. Representative sections were processed with standard paraffin technique and stained with hematoxylin and eosin. Immunohistochemistry was performed using a polymer-based method in a Leica Bond-Max
Fig. 1. (A) Sebaceous adenoma within mature cystic ovarian teratoma (medium power). (B) Sebaceous adenoma within mature cystic ovarian teratoma (high power). (C) Loss of nuclear reactivity for MSH2 MMR protein by immunohistochemistry (medium power). (D) Positive nuclear reactivity for MLH1 MMR protein by immunohistochemistry (medium power).
J. Smith et al. / Annals of Diagnostic Pathology 16 (2012) 485–488
automatic immunohistochemical stainer, with the MMR protein antibodies (MLH1, MSH2, MSH6, and PMS2). (Leica Microsystems, Wetzlar, Germany).
4. Results Macroscopically, the left adnexal tumor measured 130 × 100 × 90 mm and weighed 571 g. The external surface was smooth, and dissection revealed a unilocular cyst containing brown-yellow liquid, hair, and white paste. The inner lining of the cyst was cream and predominantly smooth. Microscopy confirmed the frozen-section diagnosis of an ovarian mature cystic teratoma. The various tissue types present included skin and skin adnexa, as well as respiratorytype epithelium. Part of the cyst showed an abnormal proliferation of sebaceous lobules with features similar to a cystic sebaceous adenoma of the skin (Fig. 1A, B). No invasion was identified. Mismatch repair immunohistochemistry showed loss of nuclear reactivity for the MMR proteins MSH2 (Fig. 1C) and MSH6 within the sebaceous tumor cells. There was positive nuclear reactivity for MLH1 (Fig. 1D) and PMS2.
5. Discussion Muir-Torre syndrome is now considered to be a variant of Lynch syndrome, which has also been known as hereditary nonpolyposis colorectal cancer (HNPCC). Lynch syndrome is the most common hereditary colorectal cancer predisposition syndrome and accounts for approximately 3% of colorectal cancers worldwide. It is also associated with an increased risk of other cancers such as endometrial, gastric, ovarian, and urothelial cancers [2]. Lynch syndrome is genetically defined by a germline mutation in an MMR gene and is inherited in an autosomal dominant fashion. The DNA MMR genes (MLH1, MSH2, MSH6, and PMS2) encode proteins involved in the identification and repair of DNA mismatch errors during replication. The most common mutations seen in Muir-Torre syndrome involve the MMR genes MSH2 and less commonly MLH1 [3]. These 2 “major” MMR genes (MSH2 and MLH1) are stabilized by interactions between any of several “minor” MMR genes (including MSH6 and PMS2). The “minor” DNA MMR genes are dependent on their binding partners for expression at the protein level [2]. In this way, when a tumor loses expression of MSH2, there is concomitant loss of MSH6 expression, as seen in this case. Patients with Muir-Torre syndrome have an increased risk of developing Lynch syndrome–associated cancers such as colorectal, endometrial, gastric, ovarian, and urothelial cancers [2]. Some also consider Muir-Torre syndrome to be associated with other cancers such as breast, parotid, laryngeal cancers and hematological malignant disease [1,3,4].
487
The association of cutaneous sebaceous adenoma and Muir-Torre syndrome is well described and has recently been reviewed [5]. Cutaneous sebaceous adenomas are the most common neoplasm associated with and the most specific marker of Muir-Torre syndrome, appearing in at least 68% of patients [4,6]. Furthermore, a single sebaceous neoplasm can be a marker of Muir-Torre syndrome [4]. It is now common practice for patients with cutaneous sebaceous neoplasms to have immunohistochemistry performed for MMR proteins and a review of personal and family history with genetic counseling where indicated [1,7]. The goal is to identify patients who may have Muir-Torre syndrome at the earliest possible stage, because surveillance and/or prophylactic surgery have been shown to minimize the impact of associated visceral malignancies [3,8]. In 2 different studies, 57% and 60% of patients with Muir-Torre syndrome, respectively, were diagnosed with a skin lesion before a visceral malignancy was diagnosed [9]. Retrospective studies have shown a significant reduction in the risk of ovarian and endometrial cancers in women with Muir-Torre syndrome who elect to have prophylactic hysterectomy and bilateral salpingo-oophorectomy [1]. In one study involving 315 women with Lynch syndrome, there were no occurrences of endometrial or ovarian cancer in women who underwent prophylactic surgery (hysterectomy and bilateral salpingo-oophorectomy), compared with endometrial and ovarian cancer developing in 33% and 5%, respectively, of women who did not have prophylactic surgery [8]. A review of the literature reveals a small number of case reports of sebaceous adenomas and sebaceous carcinomas in ovarian dermoid cysts; however, none describe an association with Muir-Torre syndrome [10-15]. Some of these case reports do predate Muir and Torre's first independent descriptions of cases in 1967 and 1968, respectively, which later became known as the Muir-Torre syndrome [16,17]. Interestingly, however, one previously described dermoid cyst containing both sebaceous adenoma and squamous cell carcinoma occurred in a patient with coexistent endometrial cancer, raising the possibility of Muir-Torre syndrome, although it is not detailed in the published report if this association was considered in this case [10]. To our knowledge, this is the first reported case of sebaceous adenoma arising within a benign dermoid cyst in a patient with documented Muir-Torre syndrome. It is not known whether all sebaceous adenomas in dermoid cysts are associated with Muir-Torre syndrome. However, given the strong association between cutaneous sebaceous adenoma and Muir-Torre syndrome, and this case of sebaceous adenoma in a dermoid cyst in a patient with documented Muir-Torre syndrome, an association appears likely. This could be investigated further by immunohistochemistry testing for MMR proteins in the previously described cases. Given the important benefits of early diagnosis of Muir-Torre syndrome, it is suggested that, although rare,
488
J. Smith et al. / Annals of Diagnostic Pathology 16 (2012) 485–488
the presence of a sebaceous adenoma in a dermoid cyst may be a useful trigger for further investigations, in the same way that patients with cutaneous sebaceous adenomas are investigated. In summary, this is, to our knowledge, the first reported case of sebaceous adenoma arising within a benign ovarian mature cystic teratoma in a patient with documented MuirTorre syndrome. The importance of diagnosing Muir-Torre syndrome in cases of cutaneous sebaceous adenomas is well established. Similarly, further history and investigations for Muir-Torre syndrome should be undertaken in the presence of a sebaceous adenoma in an ovarian mature cystic teratoma. References [1] Eisen DB, Michael DJ. Sebaceous lesions and their associated syndromes: part II. J Am Acad Dermatol 2009;61:563-78. [2] Lynch HT, Lynch PM, Lanspa SJ, et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 2009;76:1-18. [3] Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol 2005;6:980-7. [4] Lazar AJ, Lyle S, Calonje E. Sebaceous neoplasia and Torre-Muir syndrome. Curr Diagn Pathol 2007;13:301-19. [5] Shalin SC, Lyle S, Calonje E, et al. Sebaceous neoplasia and the MuirTorre syndrome: important connections with clinical implications. Histopathology 2010;56:133-47.
[6] Eisen DB, Michael DJ. Sebaceous lesions and their associated syndromes: part I. J Am Acad Dermatol 2009;61:549-60. [7] Ponti G, Losi L, Di Gregorio C, et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and Immunohistochemistry. Cancer 2005;103:1018-25. [8] Schmeler KM, Lynch HT, Chen L-M, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006;354:261-9. [9] South CD, Hampel H, Comeras I, et al. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 2008; 100:277-81. [10] Chumas JC, Scully RE. Sebaceous tumors arising in ovarian dermoid cysts. Int J Gynecol Pathol 1991;10:356-63. [11] Kaku T, Toyoshima S, Hachisuga T, et al. Sebaceous gland tumor of the ovary. Gynecol Oncol 1987;26:398-402. [12] Ribeiro-Silva A, Chang D, Bisson FW, et al. Clinicopathological and immunohistochemical features of a sebaceous carcinoma arising within a benign dermoid cyst of the ovary. Virchows Arch 2003; 443:574-8. [13] Strauss AF, Gates HS. Giant sebaceous gland tumor of the ovary. Am J Clin Pathol 1964;41:78-83. [14] Vartanian RK, McRae B, Hessler RB. Sebaceous carcinoma arising in a mature cystic teratoma of the ovary. Int J Gynecol Pathol 2002;21:418-21. [15] Venizelos ID, Tatsiou ZA, Roussos D, et al. A case of sebaceous carcinoma arising within a benign ovarian cystic teratoma. Onkologie 2009;32:353-5. [16] Muir EG, Bell AJY, Barlow KA. Multiple primary carcinomata of the colon, duodenum and larynx associated with Keratoacanthoma of the face. Br J Surg 1967;54:191-5. [17] Torre D. Multiple sebaceous tumors. Arch Dermatol 1968;98:549-51.
Annals of Diagnostic Pathology 16 (2012) 485 – 488
Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome Jason Smith, FRACGPa,⁎, Karen Crowe, MScb , Julie McGaughran, FRACPc , Thomas Robertson, FRCPAa a
Pathology Queensland, Royal Brisbane and Women's Hospital, Herston QLD 4029, Australia b Genetic Health Queensland, Nambour QLD 4560, Australia c Genetic Health Queensland, Herston QLD 4029, Australia
Abstract
Keywords:
This is the first reported case of a sebaceous adenoma arising within an ovarian mature cystic teratoma in a patient with Muir-Torre syndrome. The pathologic findings and a literature review are presented, including the importance and possible benefits of an early diagnosis of Muir-Torre syndrome. It is proposed that the presence of a sebaceous adenoma in an ovarian cystic teratoma may serve as a useful trigger to consider further history and investigations, with the goal of identifying an important genetic cancer predisposition syndrome. Crown Copyright © 2012 Published by Elsevier Inc. All rights reserved. Sebaceous adenoma; Ovarian mature cystic teratoma; Muir-Torre syndrome; Lynch syndrome
1. Introduction
2. Case report
The association of cutaneous sebaceous adenoma and Muir-Torre syndrome is well described. This is, to our knowledge, the first reported case of sebaceous adenoma arising within an ovarian mature cystic teratoma (dermoid cyst) in a patient with documented Muir-Torre syndrome. The pathologic findings are described, and a brief literature review is presented. In addition to being an interesting case, the apparent association of sebaceous adenoma in a dermoid cyst with Muir-Torre syndrome may be of use in helping to diagnose others with MuirTorre syndrome at an early stage. Just as with cutaneous sebaceous adenomas, the presence of a sebaceous adenoma in a dermoid cyst may be a useful trigger to consider further investigations such as immunohistochemistry for mismatch repair (MMR) proteins (MLH1, MSH2, MSH6, and PMS2) and exploration of personal and family history to potentially identify a clinically important genetic cancer predisposition syndrome.
A 52-year-old woman had a cutaneous lesion biopsied from the right nasolabial fold in January 2010, which was diagnosed as a sebaceous adenoma. This was tested for the presence of MMR proteins by immunohistochemistry, which showed loss of nuclear reactivity for the MMR proteins MSH2 and MSH6. There was positive (retained) nuclear reactivity for MLH1 and PMS2. The patient had a history of multiple different malignancies. In 2006, she was diagnosed with invasive ductal carcinoma and ductal carcinoma in situ in her left breast, which was treated with surgery, radiotherapy, and oral tamoxifen. In addition to the cutaneous sebaceous adenoma, she had a history of several basal cell carcinomas, a keratoacanthoma, and 2 intraepidermal carcinomas. In 1995, the patient had bilateral ovarian cystectomies for mature cystic teratomas. On reviewing her family history, it is possible that her father may have had Lynch and/or MuirTorre syndrome as he had had esophageal and bladder cancer and had had multiple skin lesions removed, although the details of the cutaneous pathology are not known. She attended for genetic counseling, and subsequent mutation screening of the MSH2 gene was undertaken, which revealed that she had an MSH2 mutation (heterozygous
⁎ Corresponding author. Tel.: +61736365724. E-mail addresses: [email protected], [email protected] (J. Smith).
1092-9134/$ – see front matter. Crown Copyright © 2012 Published by Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.anndiagpath.2011.04.003
486
J. Smith et al. / Annals of Diagnostic Pathology 16 (2012) 485–488
mutation MSH2:c.803CNA). This mutation is predicted to result in either premature termination of translation producing a truncated protein or nonsense-mediated messenger RNA decay. The patient's history of sebaceous adenoma and heterozygous MSH2 mutation are consistent with Muir-Torre syndrome [1]. It is interesting to note that when immunohistochemistry for MMR proteins was retrospectively performed on her previous breast cancer, there was no loss of normal staining. This suggests that her breast cancer is coincidental rather than a manifestation of her Muir-Torre syndrome. Given the associated risk of ovarian and endometrial cancers in Muir-Torre syndrome, as well as the risk of tamoxifen-associated endometrial cancer, the patient was offered and opted for prophylactic hysterectomy and bilateral salpingo-oophorectomy. Unexpectedly, a routine preoperative pelvic ultrasound showed a large left adnexal mass measuring up to 110 mm in diameter, with regions of hyperechogenicity and hypoechogenicity. At surgery, the
large left adnexal mass was resected and intraoperative frozensection consultation indicated a mature cystic teratoma (dermoid cyst). The uterus and right adnexa were also removed. The patient had an unremarkable postoperative course and was discharged home on the fourth day. In addition to postoperative follow-up with the gynecologic surgeons, the patient has also been referred to a gastroenterologist for gastrointestinal surveillance, and her family have been offered genetic counseling and testing.
3. Materials and methods The surgical specimen was initially sampled for frozensection assessment. The specimen was then fixed in 10% neutral-buffered formalin. Representative sections were processed with standard paraffin technique and stained with hematoxylin and eosin. Immunohistochemistry was performed using a polymer-based method in a Leica Bond-Max
Fig. 1. (A) Sebaceous adenoma within mature cystic ovarian teratoma (medium power). (B) Sebaceous adenoma within mature cystic ovarian teratoma (high power). (C) Loss of nuclear reactivity for MSH2 MMR protein by immunohistochemistry (medium power). (D) Positive nuclear reactivity for MLH1 MMR protein by immunohistochemistry (medium power).
J. Smith et al. / Annals of Diagnostic Pathology 16 (2012) 485–488
automatic immunohistochemical stainer, with the MMR protein antibodies (MLH1, MSH2, MSH6, and PMS2). (Leica Microsystems, Wetzlar, Germany).
4. Results Macroscopically, the left adnexal tumor measured 130 × 100 × 90 mm and weighed 571 g. The external surface was smooth, and dissection revealed a unilocular cyst containing brown-yellow liquid, hair, and white paste. The inner lining of the cyst was cream and predominantly smooth. Microscopy confirmed the frozen-section diagnosis of an ovarian mature cystic teratoma. The various tissue types present included skin and skin adnexa, as well as respiratorytype epithelium. Part of the cyst showed an abnormal proliferation of sebaceous lobules with features similar to a cystic sebaceous adenoma of the skin (Fig. 1A, B). No invasion was identified. Mismatch repair immunohistochemistry showed loss of nuclear reactivity for the MMR proteins MSH2 (Fig. 1C) and MSH6 within the sebaceous tumor cells. There was positive nuclear reactivity for MLH1 (Fig. 1D) and PMS2.
5. Discussion Muir-Torre syndrome is now considered to be a variant of Lynch syndrome, which has also been known as hereditary nonpolyposis colorectal cancer (HNPCC). Lynch syndrome is the most common hereditary colorectal cancer predisposition syndrome and accounts for approximately 3% of colorectal cancers worldwide. It is also associated with an increased risk of other cancers such as endometrial, gastric, ovarian, and urothelial cancers [2]. Lynch syndrome is genetically defined by a germline mutation in an MMR gene and is inherited in an autosomal dominant fashion. The DNA MMR genes (MLH1, MSH2, MSH6, and PMS2) encode proteins involved in the identification and repair of DNA mismatch errors during replication. The most common mutations seen in Muir-Torre syndrome involve the MMR genes MSH2 and less commonly MLH1 [3]. These 2 “major” MMR genes (MSH2 and MLH1) are stabilized by interactions between any of several “minor” MMR genes (including MSH6 and PMS2). The “minor” DNA MMR genes are dependent on their binding partners for expression at the protein level [2]. In this way, when a tumor loses expression of MSH2, there is concomitant loss of MSH6 expression, as seen in this case. Patients with Muir-Torre syndrome have an increased risk of developing Lynch syndrome–associated cancers such as colorectal, endometrial, gastric, ovarian, and urothelial cancers [2]. Some also consider Muir-Torre syndrome to be associated with other cancers such as breast, parotid, laryngeal cancers and hematological malignant disease [1,3,4].
487
The association of cutaneous sebaceous adenoma and Muir-Torre syndrome is well described and has recently been reviewed [5]. Cutaneous sebaceous adenomas are the most common neoplasm associated with and the most specific marker of Muir-Torre syndrome, appearing in at least 68% of patients [4,6]. Furthermore, a single sebaceous neoplasm can be a marker of Muir-Torre syndrome [4]. It is now common practice for patients with cutaneous sebaceous neoplasms to have immunohistochemistry performed for MMR proteins and a review of personal and family history with genetic counseling where indicated [1,7]. The goal is to identify patients who may have Muir-Torre syndrome at the earliest possible stage, because surveillance and/or prophylactic surgery have been shown to minimize the impact of associated visceral malignancies [3,8]. In 2 different studies, 57% and 60% of patients with Muir-Torre syndrome, respectively, were diagnosed with a skin lesion before a visceral malignancy was diagnosed [9]. Retrospective studies have shown a significant reduction in the risk of ovarian and endometrial cancers in women with Muir-Torre syndrome who elect to have prophylactic hysterectomy and bilateral salpingo-oophorectomy [1]. In one study involving 315 women with Lynch syndrome, there were no occurrences of endometrial or ovarian cancer in women who underwent prophylactic surgery (hysterectomy and bilateral salpingo-oophorectomy), compared with endometrial and ovarian cancer developing in 33% and 5%, respectively, of women who did not have prophylactic surgery [8]. A review of the literature reveals a small number of case reports of sebaceous adenomas and sebaceous carcinomas in ovarian dermoid cysts; however, none describe an association with Muir-Torre syndrome [10-15]. Some of these case reports do predate Muir and Torre's first independent descriptions of cases in 1967 and 1968, respectively, which later became known as the Muir-Torre syndrome [16,17]. Interestingly, however, one previously described dermoid cyst containing both sebaceous adenoma and squamous cell carcinoma occurred in a patient with coexistent endometrial cancer, raising the possibility of Muir-Torre syndrome, although it is not detailed in the published report if this association was considered in this case [10]. To our knowledge, this is the first reported case of sebaceous adenoma arising within a benign dermoid cyst in a patient with documented Muir-Torre syndrome. It is not known whether all sebaceous adenomas in dermoid cysts are associated with Muir-Torre syndrome. However, given the strong association between cutaneous sebaceous adenoma and Muir-Torre syndrome, and this case of sebaceous adenoma in a dermoid cyst in a patient with documented Muir-Torre syndrome, an association appears likely. This could be investigated further by immunohistochemistry testing for MMR proteins in the previously described cases. Given the important benefits of early diagnosis of Muir-Torre syndrome, it is suggested that, although rare,
488
J. Smith et al. / Annals of Diagnostic Pathology 16 (2012) 485–488
the presence of a sebaceous adenoma in a dermoid cyst may be a useful trigger for further investigations, in the same way that patients with cutaneous sebaceous adenomas are investigated. In summary, this is, to our knowledge, the first reported case of sebaceous adenoma arising within a benign ovarian mature cystic teratoma in a patient with documented MuirTorre syndrome. The importance of diagnosing Muir-Torre syndrome in cases of cutaneous sebaceous adenomas is well established. Similarly, further history and investigations for Muir-Torre syndrome should be undertaken in the presence of a sebaceous adenoma in an ovarian mature cystic teratoma. References [1] Eisen DB, Michael DJ. Sebaceous lesions and their associated syndromes: part II. J Am Acad Dermatol 2009;61:563-78. [2] Lynch HT, Lynch PM, Lanspa SJ, et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 2009;76:1-18. [3] Ponti G, Ponz de Leon M. Muir-Torre syndrome. Lancet Oncol 2005;6:980-7. [4] Lazar AJ, Lyle S, Calonje E. Sebaceous neoplasia and Torre-Muir syndrome. Curr Diagn Pathol 2007;13:301-19. [5] Shalin SC, Lyle S, Calonje E, et al. Sebaceous neoplasia and the MuirTorre syndrome: important connections with clinical implications. Histopathology 2010;56:133-47.
[6] Eisen DB, Michael DJ. Sebaceous lesions and their associated syndromes: part I. J Am Acad Dermatol 2009;61:549-60. [7] Ponti G, Losi L, Di Gregorio C, et al. Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and Immunohistochemistry. Cancer 2005;103:1018-25. [8] Schmeler KM, Lynch HT, Chen L-M, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006;354:261-9. [9] South CD, Hampel H, Comeras I, et al. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 2008; 100:277-81. [10] Chumas JC, Scully RE. Sebaceous tumors arising in ovarian dermoid cysts. Int J Gynecol Pathol 1991;10:356-63. [11] Kaku T, Toyoshima S, Hachisuga T, et al. Sebaceous gland tumor of the ovary. Gynecol Oncol 1987;26:398-402. [12] Ribeiro-Silva A, Chang D, Bisson FW, et al. Clinicopathological and immunohistochemical features of a sebaceous carcinoma arising within a benign dermoid cyst of the ovary. Virchows Arch 2003; 443:574-8. [13] Strauss AF, Gates HS. Giant sebaceous gland tumor of the ovary. Am J Clin Pathol 1964;41:78-83. [14] Vartanian RK, McRae B, Hessler RB. Sebaceous carcinoma arising in a mature cystic teratoma of the ovary. Int J Gynecol Pathol 2002;21:418-21. [15] Venizelos ID, Tatsiou ZA, Roussos D, et al. A case of sebaceous carcinoma arising within a benign ovarian cystic teratoma. Onkologie 2009;32:353-5. [16] Muir EG, Bell AJY, Barlow KA. Multiple primary carcinomata of the colon, duodenum and larynx associated with Keratoacanthoma of the face. Br J Surg 1967;54:191-5. [17] Torre D. Multiple sebaceous tumors. Arch Dermatol 1968;98:549-51.