Endocrine mucin-producing sweat gland carcinoma: A study of 11 cases with molecular analysis

被引:23
作者
Qin, Huamin [1 ,2 ]
Moore, Robert F. [2 ]
Ho, Cheng-Ying [3 ]
Eshleman, James [2 ]
Eberhart, Charles G. [2 ]
Cuda, Jonathan [4 ]
机构
[1] Dalian Med Univ, Dept Pathol, Affiliated Hosp 2, Dalian, Liaoning, Peoples R China
[2] Johns Hopkins Univ, Dept Pathol Ophthalmol & Oncol, 720 Rutland Ave,Ross Bldg 558, Baltimore, MD 21205 USA
[3] Univ Maryland, Dept Pathol, Baltimore, MD 21201 USA
[4] Johns Hopkins Univ, Dept Dermatol Dermatopathol & Oral Pathol, 600 North Wolfe St,Blalock 907, Baltimore, MD 21287 USA
关键词
BRAF(V600E) mutational status; chromosome; 6; deletion; endocrine mucin-producing sweat gland carcinoma; mucinous carcinoma; OF-THE-LITERATURE; PROSTATE CANCERS; GNAS MUTATIONS; DELETION; GENE; BREAST; ADENOCARCINOMA; NEOPLASMS; MAP3K7; 6Q14.3;
D O I
10.1111/cup.13308
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Background: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade adnexal neoplasm that most commonly involves the eyelid. Analogous to solid papillary carcinoma of the breast, it probably represents a precursor lesion to mucinous carcinoma. Here, we describe 11 cases of EMPSGC with molecular analysis. Methods: We performed a retrospective search of the Johns Hopkins Medical Institute pathology database and identified 11 cases of EMPSGC. Immunohistochemistry was performed for chromogranin, synaptophysin, neuron specific enolase, estrogen receptor (ER), epithelial membrane antigen (EMA), cytokeratin 7 (CK7), and cytokeratin 20 (CK20). Array comparative genomic hybridization (aCGH) and BRAF(V600E) pyrosequencing were performed on two and three cases, respectively. Results: We observed a strong female predilection (73% females, 8/11 cases) with an average age of 66 years (range, 56-83 years). EMPSGCs were associated with adjacent benign sweat gland cysts (3/11), atypical intraductal proliferation (1/11), and mucinous carcinoma (1/11). Imunohistochemically, all tumors expressed at least one neuroendocrine marker, ER, EMA, and CK7, and were negative for CK20. aCGH demonstrated a 6p11.2 to 6q16.1 deletion (1/2 cases). All cases were negative for BRAF(V600E) mutation (3/3 cases). Conclusion: This series provides further histopathologic support that EMPSGC represents a multistage progression to mucinous carcinoma. Additional studies are needed to understand its molecular mechanisms.
引用
收藏
页码:681 / 687
页数:7
相关论文
共 29 条
  • [21] Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers
    Liu, Wennuan
    Chang, Bao-Li
    Cramer, Scott
    Koty, Patrick P.
    Li, Tao
    Sun, Jishan
    Turner, Aubrey R.
    Kap-Herr, ChrisVon
    Bobb, Peggy
    Rao, Jianyu
    Zheng, S. Lilly
    Isaacs, William B.
    Xu, Jianfeng
    [J]. CLINICAL CANCER RESEARCH, 2007, 13 (17) : 5028 - 5033
  • [22] EPHA7, a new target gene for 6q deletion in T-cell lymphoblastic lymphomas
    Lopez-Nieva, Pilar
    Vaquero, Concepcion
    Fernandez-Navarro, Pablo
    Gonzalez-Sanchez, Laura
    Villa-Morales, Maria
    Santos, Javier
    Esteller, Manel
    Fernandez-Piqueras, Jose
    [J]. CARCINOGENESIS, 2012, 33 (02) : 452 - 458
  • [23] Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype
    Lowry, R. B.
    Chernos, J. E.
    Connelly, M. S.
    Wyse, J. P. H.
    [J]. MOLECULAR SYNDROMOLOGY, 2013, 4 (06) : 280 - 284
  • [24] Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms
    Nishikawa, G.
    Sekine, S.
    Ogawa, R.
    Matsubara, A.
    Mori, T.
    Taniguchi, H.
    Kushima, R.
    Hiraoka, N.
    Tsuta, K.
    Tsuda, H.
    Kanai, Y.
    [J]. BRITISH JOURNAL OF CANCER, 2013, 108 (04) : 951 - 958
  • [25] WT1 expression in endocrine mucin-producing sweat gland carcinoma: a study of 13 cases
    Shon, Wonwoo
    Salomao, Diva R.
    [J]. INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (10) : 1228 - 1234
  • [26] DNA copy number alterations in prostate cancers: A combined analysis of published CGH studies
    Sun, Jishan
    Liu, Wennuan
    Adams, Tamara S.
    Sun, Jielin
    Li, Xingnan
    Turner, Aubrey R.
    Chang, Baoli
    Kim, Jin Woo
    Zheng, Siqun Lilly
    Isaacs, William B.
    Xu, Jianfeng
    [J]. PROSTATE, 2007, 67 (07) : 692 - 700
  • [27] Treatment of synchronous mucinous carcinoma and endocrine mucin-producing sweat gland carcinoma with Mohs' micrographic surgery
    Tannous, ZS
    Avram, MM
    Zembowicz, A
    Mihm, MC
    Liteplo, M
    Kwan, T
    Olbricht, SM
    [J]. DERMATOLOGIC SURGERY, 2005, 31 (03) : 364 - 367
  • [28] Endocrine mucin-producing sweat gland carcinoma occurring on extra-facial site: a case report
    Tsai, Jia-Huei
    Hsiao, Tzu-Lin
    Chen, Yi-Ying
    Hsiao, Cheng-Hsiang
    Liau, Jau-Yu
    [J]. JOURNAL OF CUTANEOUS PATHOLOGY, 2014, 41 (06) : 544 - 547
  • [29] Endocrine mucin-producing sweat gland carcinoma - Twelve new cases suggest that it is a precursor of some invasive mucinous carcinomas
    Zembowicz, A
    Garcia, CF
    Tannous, ZS
    Mihm, MC
    Koerner, F
    Pilch, BZ
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2005, 29 (10) : 1330 - 1339