dos Santos, Vitorino M

Sugai, Taciana AM

English

Sultan Qaboos University Scientific Journals

  SUBMITTED 31 OCT 23 1 ACCEPTED 7 DEC 23 2 ONLINE-FIRST: DECEMBER 2023 3 DOI: https://doi.org/10.18295/squmj.12.2023.087 4  5 Re: Extramammary Paget disease - diagnostic and therapeutic 6 challenges 7  8 Dear Sir, 9 Pegalajar-García MD et al. reported in this Journal the case study of a 70-year-old man, 10 who had the diagnosis of extramammary Paget's disease (EMPD).1 At first, the main 11 clinical hypothesis considered for differential diagnosis included Langerhans cell 12 histiocytosis, Bowen’s disease, amelanotic melanoma, besides mycosis fungoides. But a 13 dermoscopy evaluation revealed whitish and dotted vessels suggestive of the EMPD 14 diagnosis, which was further confirmed by the gross cystic disease fluid protein 15 15 (GCDFP-15), mammaglobin and CK7 positive, and HMB 45 and S-100 protein negative. 16 Imaging and complementary laboratory determinations discarded concomitant 17 malignancies, a major prognostic factor, which can occur in contiguous (23%) or distant 18 (8%-46% locations. He underwent the excision of the plaque, but non-surgical procedures 19 include the management utilizing imiquimod, photodynamic therapy, or radiotherapy. 20 The authors emphasized the common genital or perianal and rare axillary sites; the 21 prevalence from 35 to 80 years of age; the high recurrence rate, and the long follow-up.1 22 Considering the importance of this case report to increase the suspicion index of non-23 specialists about the EMPD, which may evolve unsuspected or misdiagnosed, the 24 objective is present a short review of additional literature data from 2022 and 2023.2-8 25 Besides, the classical dermoscopic patterns of EMPD, as the milky-red and white 26 structureless areas, polymorphous vascular patterns and glomerular vessel patterns, 27 surface scales, ulcers, shiny white lines, and pigmentary structures must be highlighted;1,3 28 this resource is useful to assess and detect recurrent EMPD, and improve the outcomes.3  29  30 Caruso G, et al. reviewed 96 studies (5 prospectives, 24 retrospectives, 30 case series, 31 and 37 case reports) about the vaginal Paget's disease (VPD); the 5617 patients were aged 32 between 29 and 100 years, with the average of 71 years at their diagnoses.2 The majority 33   of VPD lesions were erythematous, eczematoid, and pruriginous; the median follow-up 34 varied from one month to 9 years, with 23% to 73% of recurrences that were managed by 35 new surgical excision or imiquimod, 5-fluorouracil, or radiotherapy.2 The authors stressed 36 the need of databases to better understand this challenging disease. Fang WC, et al. 37 reported the use of dermoscopy to monitor recurrences of EMPD in four patients with 38 histopathological diagnosis of EMPD in the axilla (n = 1) and in genital area (n = 3); 3 39 patients had wide excision with clear surgical margins and one completed the treatment 40 with photodynamic therapy (PDT) followed by topical use of imiquimod.3 Interestingly, 41 typical vascular patterns were found in the lesions of scrotum but not in those of axilla, 42 possibly due to the axillary papillomatous epidermis and thicker dermis.3 Navajas 43 Hernández P, et al. reported a 85-year-old man with two decades of diagnosed ulcerative 44 colitis (UC), who had the diagnosis of recent perianal primary Paget’s disease and evolved 45 to death before the radiotherapy management to control the invasive lesions.4 The authors 46 commented on the rarity of perianal PD (1.3% of all PD), the prevalence among 60-70 47 year-old women, besides the CK7 and 34ßE12 positive tumor markers; and the lack of 48 literature data establishing a relationship between the UC and perianal PD.4 Pérez JC, et 49 al. performed a review on the diagnosis and treatment of EMPD localized or metastatic, 50 and called attention about the low incidence of this entity, the lack of randomized clinical 51 trials, and the role of publishing retrospective studies or case reports.5 They also reported 52 the case study of a 75-year-old woman with the diagnosis of vulvar PD, and inguinal 53 lymph node implants of a poorly differentiated adenocarcinoma.5 The CK7, EMA, 54 androgen receptors, and CEA positivity; besides CK20, estrogen and progesterone 55 receptors, and GCDFP 15 negative, confirmed metastases of vulvar origin.5 She started 56 chemotherapy (carboplatin AUC-4 plus paclitaxel) with a lymph node partial response, 57 followed by the consolidation radiotherapy on the vulvar area plus pelvic and inguinal 58 lymph node chains; as she had hepatic implants and the HER2 was positive 3+, the 59 schedule was changed by trastuzumab and paclitaxel (suspended after neurotoxicity).5 60 She was treated with only trastuzumab till moved to another state, with loss to follow-up. 61 The authors commented on the few reported cases of anti HER2 treatment and androgen 62 and/or estrogen blockade with favorable outcomes, which may justify the routine 63 evaluation of the HER2, androgen, and estrogen receptors overexpression in vulvar PDs.5 64 Sohn BS, et al. performed a retrospective study to evaluate the treatment outcomes among 65 37 patients with advanced and metastatic EMPD; 6 had locoregional and 31 had systemic 66 chemotherapy as first-line treatments (22 platinum-based had an objective response rate 67   (ORR) of 45.5%, and 8 taxane-based had 62.5%, while the systemic chemotherapy 68 combined with anti-HER2 antibody had an ORR of 100%.5 They stressed the lack of 69 standard treatment for advanced or metastatic EMPD, but trastuzumab plus taxane can 70 propitiate longer survival than monotherapy or platinum- or taxane-based chemotherapy.5  71  72 Early diagnosis of EMPD often constitutes a challenging task for non-specialists, and due 73 to rarity, the advanced or metastatic have no established standard treatment. Classical 74 dermoscopic patterns are useful to detect EMPD and improve the prognosis.  75  76 *Vitorino M. dos Santos1 and Taciana A.M. Sugai2 77 1Department of Internal Medicine, Armed Forces Hospital and Catholic University; 78 2Department of Neurophysiology, American Society of Neurophysiology, Brasilia, Brazil 79 *Corresponding Author’s E-mail: vitorinomodesto@gmail.com 80  81 References: 82 1. Pegalajar-García MD, Mellado J, Ruiz-Villaverde R, Navarro-Triviño FJ. 83 Erythematous plaque in the left axillary region: A diagnostic challenge where dermoscopy 84 can help. Sultan Qaboos Univ Med J. 2023;1(1). ePub Ahead of Print. doi: 85 10.18295/squmj.5.2023.034.  86 2. Caruso G, Barcellini A, Mazzeo R, Gallo R, Vitale MG, Passarelli A, et al. Vulvar 87 Paget's disease: A systematic review of the MITO Rare Cancer Group. Cancers (Basel). 88 2023;15(6):1803. doi: 10.3390/cancers15061803. PMID: 36980691.  89 3. Fang WC, Chou PC, Chiu LW, Ke CL, Cheng ST. Dermoscopy as a diagnostic 90 and monitoring tool for recurrent extramammary Paget's disease. Indian J Dermatol. 91 2022;67(6):819-820. doi: 10.4103/ijd.ijd_771_22. PMID: 36998839.  92 4. Navajas Hernández P, Valdés Delgado T, Machuca Aguado J, González-Cámpora 93 R, Argüelles Arias F. Perianal Paget's disease. Rev Esp Enferm Dig. 2023;115(8):461-94 462. doi: 10.17235/reed.2022.9304/2022. PMID: 36412481.  95 5. Pérez JC, Salgado AC, Pérez-Mies B, Rullán JAD, Ajuria-Illarramendi O, Alia 96 EMG, et al. Extramammary Paget disease: A therapeutic challenge, for a rare entity. Curr 97 Oncol Rep. 2023;25(10):1081-1094. doi: 10.1007/s11912-023-01434-0. Erratum in: Curr 98 Oncol Rep. 2023. doi: 10.1007/s11912-023-01456-8. PMID: 37421583.  99   6. Sohn BS, Kim J, Kim M, Hong JY, Lee J, Park SE, et al. Treatment outcomes of 100 advanced/metastatic extramammary Paget's disease in Korean patients: KCSG-RC20-06. 101 Cancer Med. 2023;12(14):15159-15175. doi: 10.1002/cam4.6190. PMID: 37264748. 102  103 Response from Authors 104 Dear Sir, 105 Thank you for your interesting comment to our research. EMPD is considered an 106 infrequent entity, even more outside genital location. As you have emphasized, 107 dermoscopy is an essential tool for the suspicion of this entity, but also for detection of 108 recurrences1, which are very common in this disease. It is remarkable that Fang et al1 109 mention in their article the lack of vascular patterns in the axillary lesion, as in our case. 110 They try to explain this finding based on axilla’s histology, with papillomatous epidermis 111 and thicker dermis. The presence of papillomatous structures we describe in our report 112 may be consistent with this fact. This characteristic could rise the suspicion of this tumour, 113 in addition to the rest of the mentioned findings2.   114  115 Although the important role of non-specialists and dermatologists in recognizing this 116 entity through clinical and dermoscopics findings, we should point out that histology is 117 the gold standard for EMPD’s diagnosis. Biopsy should be performed in all this cases in 118 order to stablish a proper diagnosis, but also because it helps to distinguish between 119 primary or secondary disease3. 120  121 We agree with the affirmation that strong evidence based on clinical trials and consensus 122 guides about its management and treatment is mandatory, both in local EMPD disease but 123 even more in advanced and metastatic EMPD.  124  125 In conclusion, EMPD is a rare cutaneous tumour where dermoscopy can be essential for 126 early diagnosis, both of initial lesion or recurrences during the following, and robust 127 scientific investigation is needed to improve the clinical attendance for these patients.  128  129 Maria Dolores Pegalajar-García,1 Jose Mellado,2 *Ricardo Ruiz-Villaverde,1 130 Francisco J Navarro-Triviño1 131    1Dermatology Department, Hospital Universitario San Cecilio, Granada, Spain; 132 2Pathological Anatomy, Analizalab-HLA Inmaculada, Granada. Spain  133 *Corresponding Author’s e-mail: ismenios@hotmail.com 134  135 References: 136 1. Fang WC, Chou PC, Chiu LW, Ke CL, Cheng ST. Dermoscopy as a diagnostic 137 and monitoring tool for recurrent extramammary Paget's disease. Indian J Dermatol. 138 2022;67(6):819-820. doi: 10.4103/ijd.ijd_771_22. PMID: 36998839. 139 2. Schmitt AR, Long BJ, Weaver AL, McGree ME, Bakkum-Gamez JN, Brewer JD 140 et al. Evidence-Based Screening Recommendations for Occult Cancers in the Setting of 141 Newly Diagnosed Extramammary Paget Disease. Mayo Clin Proc. 2018;93(7):877-883. 142 doi: 10.1016/j.mayocp.2018.02.024. 143 3. Liao X, Liu X, Fan X, Lai J, Zhang D. Perianal Paget's disease: a 144 clinicopathological and immunohistochemical study of 13 cases. Diagn Pathol. 145 2020;15:29. doi: 10.1186/s13000-020-00952-w. 146 

Re: Extramammary Paget disease - diagnostic and therapeutic challenges

https://journals.squ.edu.om/index.php/squmj/article/download/6220/3989

Re: Extramammary Paget disease - diagnostic and therapeutic challenges

Abstract

Similar works

Full text

Available Versions

Sultan Qaboos University Scientific Journals