RESUMEN
The atypical protein kinase ALPK1 is activated by the bacterial nucleotide sugar ADP-heptose and phosphorylates TIFA to switch on a signaling pathway that combats microbial infection. In contrast, ALPK1 mutations cause two human diseases: the ALPK1[T237M] and ALPK1[Y254C] mutations underlie ROSAH syndrome (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and migraine headache), while the ALPK1[V1092A] mutation accounts for 45% of spiradenoma and 30% of spiradenocarcinoma cases studied. In this study, we demonstrate that unlike wild-type (WT) ALPK1, the disease-causing ALPK1 mutants trigger the TIFA-dependent activation of an NF-κB/activator protein 1 reporter gene in the absence of ADP-heptose, which can be suppressed by either of two additional mutations in the ADP-heptose binding site that prevent the activation of WT ALPK1 by ADP-heptose. These observations are explained by our key finding that although ALPK1[T237M] and ALPK1[V1092A] are activated by bacterial ADP-heptose, they can also be activated by nucleotide sugars present in human cells (UDP-mannose, ADP-ribose, and cyclic ADP-ribose) which can be prevented by disruption of the ADP-heptose binding site. The ALPK1[V1092A] mutant was also activated by GDP-mannose, which did not activate ALPK1[T237M]. These are new examples of disease-causing mutations permitting the allosteric activation of an enzyme by endogenous molecules that the WT enzyme does not respond to. We propose that the loss of the specificity of ALPK1 for bacterial ADP-heptose underlies ROSAH syndrome and spiradenoma/spiradenocarcinoma caused by ALPK1 mutation.
Asunto(s)
Acrospiroma , Neoplasias de las Glándulas Sudoríparas , Humanos , Nucleótidos/genética , Azúcares , Esplenomegalia , Manosa , Heptosas/metabolismoRESUMEN
Clear cell hidradenoma is a rare benign tumor of the breast, its origin and pathogenesis are controversial. We have experienced a case of breast clear cell hidradenoma with mastermind like transcriptional coactivator 2 (MAML2) gene rearrangement. The patient found a painless mass with a hard texture in the left breast areola without nipple discharge. Microscopically, the tumor was cystic and solid, locally arranged in a glandular structure, covered by single cuboidal cells; it was composed of clear cells, epidermoid cells, and basaloid cells; there were no necrosis or mitotic figures. Immunohistochemical staining showed that the tumor cells positively expressed low-molecular cytokeratin 7, low-molecular cytokeratins (Cam5.2), high-molecular cytokeratin 5/6, cytokeratin 14, CD117, and p63; and did not express calponin, and smooth muscle myosin heavy chain. The cuboidal cells were positive for SOX10 but negative for p63. Additionally, periodic acid-Schiff reaction showed purple-red granules in the tumor cytoplasm, but Alcian blue staining showed no blue mucus in the cytoplasm. The split signals of MAML2 gene were detected by fluorescence in situ hybridization. Subtle histological and immunophenotypical differences may help to distinguish breast clear cell hidradenoma from common breast tumors. Furthermore, the MAML2 gene rearrangement may be a molecular genetic characteristic of breast clear cell hidradenoma.
Asunto(s)
Biomarcadores de Tumor , Neoplasias de la Mama , Proteínas de Unión al ADN , Reordenamiento Génico , Transactivadores , Factores de Transcripción , Humanos , Femenino , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Factores de Transcripción/genética , Transactivadores/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Hibridación Fluorescente in Situ , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/patología , Proteínas Nucleares/genética , Adenoma de las Glándulas Sudoríparas/patología , Adenoma de las Glándulas Sudoríparas/genética , Adenoma de las Glándulas Sudoríparas/metabolismo , Persona de Mediana Edad , Inmunohistoquímica , Acrospiroma/patología , Acrospiroma/genética , Acrospiroma/diagnósticoRESUMEN
BACKGROUND: Hidradenocarcinoma (HAC) is a rare adnexal carcinoma. To the best of the authors' knowledge, there are no published systematic reviews on HAC. OBJECTIVE: To incorporate a case series from the authors' institution and systematically integrate reported information to provide a reference tool for optimization of diagnosis and management. METHODS: A comprehensive MEDLINE search was conducted from database inception to 2021 using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. This yielded 225 studies with 165 cases of HAC. References of included articles were also searched. In addition, 9 patients with HAC were identified from the authors' institution over the past 10 years. RESULTS: The mean age of HAC presentation is 60 years with a slight male predilection (60%). The head and neck is the most commonly affected region. Over 36% of cases either presented with metastatic disease or went on to metastasize. The most common treatment type was wide local excision, followed by Mohs micrographic surgery. CONCLUSION: Early detection with accurate histologic interpretation is prudent in all cases of HAC. Wide local excision is the current first-line treatment. However, Mohs micrographic surgery offers complete marginal analysis with evidence of reduced risk of metastasis and better outcomes compared with wide local excision. Currently, there are no National Comprehensive Cancer Network guidelines for the treatment of HAC, and consensus guidelines are limited to tumor and nodal metastasis staging provided by the American Joint Committee on Cancer, eighth edition. Thus, this case series and systematic review integrates important aspects of diagnosis, workup, and management of HAC.
Asunto(s)
Cirugía de Mohs , Neoplasias de las Glándulas Sudoríparas , Femenino , Humanos , Masculino , Persona de Mediana Edad , Acrospiroma/patología , Acrospiroma/diagnóstico , Acrospiroma/cirugía , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/cirugía , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Neoplasias de las Glándulas Sudoríparas/terapiaRESUMEN
ABSTRACT: The distinction between digital papillary adenocarcinoma (DPAC) and benign cutaneous adnexal tumors is clinically important and can be challenging. Poroid hidradenoma frequently occurs at acral sites and can show a number of histological features, which overlap with digital papillary adenocarcinoma. Recent work has shown that YAP1-NUTM1 fusions are frequent in poroid hidradenoma and are associated with nuclear protein in testis (NUT) expression by immunohistochemistry. We evaluated the expression of NUT-1 by immunohistochemistry in 4 cases of DPAC and 4 cases of poroid hidradenoma. Three of 4 cases of poroid hidradenoma showed strong NUT-1 expression, with no staining in any of the cases of DPAC. These results suggest that NUT-1 immunohistochemistry may be a useful additional tool in evaluating this differential diagnosis.
Asunto(s)
Acrospiroma , Adenocarcinoma Papilar , Carcinoma Papilar , Poroma , Neoplasias de las Glándulas Sudoríparas , Masculino , Humanos , Acrospiroma/patología , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/metabolismoRESUMEN
Nodular hidradenoma is an infrequent benign tumor originating from the proximal portion of the sweat glands, most commonly associated with the apocrine glands. Owing to its variable clinical presentation, correctly diagnosing nodular hidradenoma can be challenging, with several potential conditions in the differential diagnosis to consider. This article presents a healthy 52-year-old woman with an atypical location of nodular hidradenoma, highlighting the critical role of integrating clinical, dermoscopic, and histopathological characteristics for an accurate diagnosis. We discuss the clinical features, dermoscopic findings, histological examination, differential diagnosis, and treatment options for nodular hidradenoma, emphasizing the importance of surgical intervention in preventing potential malignant transformation.
Asunto(s)
Acrospiroma , Dermoscopía , Neoplasias de las Glándulas Sudoríparas , Humanos , Femenino , Persona de Mediana Edad , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Acrospiroma/patología , Acrospiroma/diagnóstico , Diagnóstico DiferencialRESUMEN
Eccrine acrospiroma is a rare benign tumor of the skin arising from the epithelial cells of eccrine sweat ducts. The clinical picture is characterized by its variability, so a detailed morphological study of the operative material is necessary to establish a diagnosis. Differential diagnosis must be carried out with hemangioma, melanoma, infected sebaceous cyst, metastatic skin lesion, and other tumors from elements of the sweat gland. In the article the authors presented the clinical and morphological analysis of own case from practice of large eccrine acrospiroma on the back surface of the left thigh which was diagnosed in a 56-year-old man.
Asunto(s)
Acrospiroma , Neoplasias de las Glándulas Sudoríparas , Humanos , Masculino , Persona de Mediana Edad , Diagnóstico Diferencial , Neoplasias de las Glándulas Sudoríparas/patología , Acrospiroma/patología , Acrospiroma/diagnóstico , Glándulas Ecrinas/patología , Muslo/patologíaRESUMEN
Malignant tumors arising from benign eccrine spiradenomas are rare. They are divided by morphology into low-grade and high-grade spiradenocarcinomas, with prognosis and metastatic potential closely linked to their histopathologic features. Tumors with low-grade morphology are known for their indolent behavior, with only two reported instances of metastatic spread. We report herein two further low-grade metastatic spiradenocarcinomas resulting in distant metastasis. Both tumors showed a background of a benign spiradenoma and subtle histopathologic signs of malignant transformation, characterized by loss of the dual-cell population, up to moderate cytological atypia and increased mitotic activity. Both patients developed metastases to the lungs years after the initial presentation, and one showed additional lymph nodal disease. We show that even the morphologically low-grade tumors may rarely show more aggressive behavior. Although often challenging, recognition of the morphologically low-grade malignant spiradenocarcinoma and long-term follow-up of the patients are important to detect metastatic disease.
Asunto(s)
Acrospiroma , Neoplasias Óseas , Neoplasias de la Mama , Carcinoma de Apéndice Cutáneo , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Humanos , Femenino , Neoplasias de las Glándulas Sudoríparas/patología , Pronóstico , Neoplasias Cutáneas/patologíaRESUMEN
ABSTRACT: Mucinous metaplasia (goblet cell type) is exceptionally rare in the skin. This is the second case of apocrine papillary hidrocystoma with mucinous metaplasia (goblet cell type) and a review of the literature exploring the significance and frequency of mucinous metaplasia with goblet cells in nongenital skin. The patient is an elderly man who presented with a blue-pigmented nodule on the scalp that was clinically suggestive of an atypical nevus. Histologically, the lesion was composed of a simple cyst of cuboidal cells with decapitation secretion and mucinous metaplasia with goblet cells. Papillary formation was identified in the cysts. Most cases of cutaneous mucinous metaplasia have been reported on genital skin, usually after chronic inflammation of the area. This type of mucinous metaplasia is categorized as benign mucinous metaplasia of the genitalia (BMM) and is believed to be unrelated to apocrine glands owing to the different histologic features and absence of apocrine differentiation by immunohistochemistry. Mucinous metaplasia (goblet cell type) has been previously reported in benign adnexal tumors (eccrine acrospiroma/hidroadenoma, mixed tumor, and syringocystadenoma papilliferum) and in malignant tumors (apocrine hidradenocarcinoma and squamous cell carcinoma). To date, mucinous metaplasia has not been identified in the histologically normal apocrine glands.
Asunto(s)
Acrospiroma , Adenoma de las Glándulas Sudoríparas , Hidrocistoma , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Masculino , Humanos , Anciano , Hidrocistoma/patología , Células Caliciformes/metabolismo , Células Caliciformes/patología , Neoplasias de las Glándulas Sudoríparas/patología , Adenoma de las Glándulas Sudoríparas/patología , Neoplasias Cutáneas/patología , Acrospiroma/patología , Metaplasia/patología , Glándulas Apocrinas/patologíaRESUMEN
Digital papillary adenocarcinoma (DPAC) is a rare tumor of sweat gland origin that preferentially affects the digits and has the potential to metastasize. Its tumor diagnosis can be difficult. Well-differentiated variants of DPAC can be confused with a benign sweat gland tumor, in particular nodular hidradenoma. With the recent detection of HPV42 DNA in DPAC by next-generation sequence analysis, we reasoned that this association could be used for diagnostic purposes. To this end, we performed in situ hybridization for HPV42 on 10 tumors diagnosed as DPAC as well as 30 sweat gland tumors of various histology types, including 8 acral hidradenomas. All DPAC were positive for HPV42. Positive hybridization signals for HPV42 were seen in both primary and metastatic DPACs. All other tumors and normal tissues were negative. This study confirms the association of HPV42 with the tumor cells of DPAC through in situ hybridization. The positive test result in all lesions of DPAC and lack of detection of HPV42 in any of the acral hidradenomas or other sweat gland tumors examined in this series is encouraging for the potential diagnostic utility of the assay. As documented by two scrotal tumors of DPAC, the in situ hybridization test for HPV42 can also help support the rare occurrence of this tumor at a non-acral site.
Asunto(s)
Acrospiroma , Adenocarcinoma de Células Claras , Adenocarcinoma Papilar , Adenoma de las Glándulas Sudoríparas , Neoplasias Óseas , Neoplasias de la Mama , Neoplasias de Tejido Conjuntivo , Neoplasias de las Glándulas Sudoríparas , Acrospiroma/diagnóstico , Acrospiroma/genética , Acrospiroma/patología , Adenocarcinoma Papilar/patología , Adenoma de las Glándulas Sudoríparas/diagnóstico , Adenoma de las Glándulas Sudoríparas/patología , Femenino , Humanos , Hibridación in Situ , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Neoplasias de las Glándulas Sudoríparas/genética , Neoplasias de las Glándulas Sudoríparas/patologíaRESUMEN
BACKGROUND: Eccrine spiradenocarcinoma (SC), also known as malignant eccrine spiradenoma, is a rare malignant cutaneous adnexal neoplasm arising from long-standing benign eccrine spiradenoma. Malignant skin tumors rarely show direct intracranial invasion. However, once the intracranial structure is infiltrated, curative excision with sufficient margins can become extremely difficult, particularly when the venous sinuses are involved. No effective adjuvant therapies have yet been established. Here, we report an extremely rare case of scalp eccrine SC with direct intracranial invasion, which does not appear to have been reported previously. CASE PRESENTATION: An 81-year-old woman presented with a large swelling on the parietal scalp 12 years after resection of spiradenoma from the same site. The tumor showed intracranial invasion with involvement of the superior sagittal sinus and repeated recurrences after four surgeries with preservation of the sinus. The histopathological diagnosis was eccrine SC. Adjuvant high-precision external beam radiotherapy (EBRT) proved effective after the third surgery, achieving remission of the residual tumor. The patient died 7 years after the first surgery for SC. CONCLUSIONS: Scalp SC with direct intracranial invasion is extremely rare. Radical resection with tumor-free margins is the mainstay of treatment, but the involvement of venous sinuses makes this unfeasible. High-precision EBRT in combination with maximal resection preserving the venous sinuses could be a treatment option for local tumor control.
Asunto(s)
Acrospiroma , Neoplasias de las Glándulas Sudoríparas , Acrospiroma/patología , Acrospiroma/cirugía , Anciano de 80 o más Años , Femenino , Humanos , Cuero Cabelludo/patología , Cuero Cabelludo/cirugía , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/cirugíaRESUMEN
We present a giant vascular spiradenocylindroma (GVSC) with a unique presentation. The diagnosis of GVSC can be clinically and radiologically elusive. The differential diagnosis includes angiolipoma, angiosarcoma, and glomus-tumor-like vascular lesions. Dermatologists should consider this variant of spiradenocylindroma in any vascular-like lesion.
Asunto(s)
Acrospiroma/patología , Carcinoma Adenoide Quístico/patología , Cuero Cabelludo/patología , Neoplasias de las Glándulas Sudoríparas/patología , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Neoplasias VascularesRESUMEN
BACKGROUND: Cysts of the skin are observed frequently and their diagnoses are generally straightforward. However, atypical cystic lesions for which differentiation is indistinct have been noted. METHODS: We examined five cases of trichilemmal cyst with proteinaceous material (TCPM), which required differentiation from sweat duct/gland tumors. We investigated the histopathological findings of TCPMs and evaluated the immunohistochemical expression of cytokeratin (CK) 10, CK13, CK17, CK19, CD8, and CD117. Immunohistochemical analysis was performed on the 5 TCPMs, 10 trichilemmal cysts (TCs), 5 clear-cell hidradenomas, 5 poroid hidradenomas, and cutaneous normal adnexa. RESULTS: Apoptotic cells were present in the cyst wall with a small amount of keratin or calcification in the cavity of TCPMs. The TCPMs and TCs were negative for CK19 and CD117, on the other hand clear-cell hidradenoma and poroid hidradenoma were positive for CK19 and CD117. The restricted positivity for CK10 was detected in the suprabasal layers of the cyst walls of TCPMs and TCs. The immunostaining patterns of TCPMs and TCs were similar to those of normal follicular isthmus. CONCLUSIONS: The histopathological findings with characteristics of TCs and a panel of immunohistochemical antibodies including CD117, CK19, and CK10 contributed to a correct diagnosis of TCPM.
Asunto(s)
Acrospiroma , Adenoma de las Glándulas Sudoríparas , Quiste Epidérmico , Neoplasias de las Glándulas Sudoríparas , Adenoma de las Glándulas Sudoríparas/patología , Quiste Epidérmico/diagnóstico , Quiste Epidérmico/patología , Humanos , Poroma , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Neoplasias de las Glándulas Sudoríparas/patologíaRESUMEN
ABSTRACT: Hidradenoma is a benign cutaneous adnexal neoplasm that occurs across a wide age range and at a variety of anatomic sites. Its most characteristic morphologic feature is the presence of diverse cell types including squamoid, clear, plasmacytoid, and mucinous cells. Hidradenoma is morphologically and molecularly similar to mucoepidermoid carcinoma, and both tumors are characterized by recurrent CRTC1-MAML2 cytogenetic translocations. Previous studies have suggested that approximately half of hidradenomas possess this translocation. This finding raised the question of whether translocation-negative hidradenomas might have an alternate molecular basis. Here, we sought to reevaluate the frequency of MAML2 translocation in hidradenoma in a series of 20 cases. We find that 90% show evidence of MAML2 translocation, suggesting that this genetic event is a nearly invariant feature of hidradenoma. These results inform our molecular understanding of this tumor and may be useful in challenging cases to distinguish hidradenoma from its histologic mimics.
Asunto(s)
Acrospiroma , Adenoma de las Glándulas Sudoríparas , Carcinoma Mucoepidermoide , Neoplasias de las Glándulas Sudoríparas , Acrospiroma/genética , Proteínas de Unión al ADN/genética , Reordenamiento Génico , Humanos , Proteínas Nucleares/genética , Proteínas de Fusión Oncogénica/genética , Neoplasias de las Glándulas Sudoríparas/genética , Transactivadores/genética , Factores de Transcripción/genética , Translocación GenéticaRESUMEN
ABSTRACT: Digital papillary adenocarcinoma is a malignant adnexal tumor with a predilection for acral sites. Hidradenoma is a benign solid and cystic sweat gland neoplasm with focal ductal and glandular differentiation and good outcomes. Hidradenomas can occur at acral sites and show papillary structures; for this reason, they are included in the differential diagnosis of digital papillary adenocarcinoma, and immunohistochemistry is a valuable tool in this scenario. We described a case of a 43-year-old man with an epithelial tumor showing papillary structures in the intermediate phalanx of the fourth finger. There was diffuse positivity for p63 and negativity for S100 protein, suggesting that this tumor was an acral hidradenoma with papillary structures.
Asunto(s)
Acrospiroma , Adenocarcinoma de Células Claras , Adenocarcinoma Papilar , Adenoma de las Glándulas Sudoríparas , Neoplasias Óseas , Neoplasias de la Mama , Carcinoma de Apéndice Cutáneo , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Acrospiroma/diagnóstico , Acrospiroma/cirugía , Adenocarcinoma Papilar/química , Adenocarcinoma Papilar/diagnóstico , Adenocarcinoma Papilar/cirugía , Adenoma de las Glándulas Sudoríparas/patología , Adulto , Humanos , Inmunohistoquímica , Masculino , Proteínas S100 , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Neoplasias de las Glándulas Sudoríparas/metabolismo , Neoplasias de las Glándulas Sudoríparas/cirugíaRESUMEN
We report a case of clear cell hidradenoma of the perineum that was initially misinterpreted as a papillary urothelial carcinoma, either metastatic or of Bartholin gland origin, on initial excisional biopsy. The misinterpretation may have been due to the pseudopapillary architecture and GATA3-positivity of the biopsy tissue. Clear cell hidradenomas often show a range of histologic growth patterns and cellular differentiation and are one of many tumors that react immunohistochemically with GATA3. Although rare, these tumors can occur in the genital region and can mimic malignant tumors such as metastatic renal cell carcinoma and carcinomas of the genitourinary tract. This report details the morphologic and immunohistochemical pitfalls that make accurate diagnosis of clear cell hidradenoma in this unusual location challenging.
Asunto(s)
Acrospiroma/diagnóstico , Factor de Transcripción GATA3/metabolismo , Neoplasias Renales/diagnóstico , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Acrospiroma/patología , Biopsia , Errores Diagnósticos , Femenino , Humanos , Inmunohistoquímica , Neoplasias Renales/patología , Persona de Mediana Edad , Perineo/patología , Neoplasias de las Glándulas Sudoríparas/patologíaRESUMEN
Spiradenocarcinoma (SC) is a very rare malignant skin adnexal tumor with sweat gland differentiation that develops from a pre-existing spiradenoma, cylindroma, or hybrid tumor called spiradenocylindroma, or arises de novo. We present two exceptionally rare SC cases showing sarcomatous differentiation; we also discuss the clinicopathologic features of SC, as well as its differential diagnoses and available therapeutic modalities. Given the aggressive behavior of SC, rapid diagnosis and complete removal of the tumor with tumor-free margins is mandatory. Owing to the marked morphological heterogeneity of individual SC cases, dermatopathologists must be familiar with the different possible histopathologic manifestations of this neoplasm.
Asunto(s)
Adenocarcinoma/diagnóstico , Metaplasia/patología , Sarcoma/patología , Neoplasias Cutáneas/patología , Neoplasias de las Glándulas Sudoríparas/patología , Acrospiroma/complicaciones , Acrospiroma/patología , Adenocarcinoma/patología , Adenocarcinoma/cirugía , Adulto , Anciano , Carcinoma Adenoide Quístico/complicaciones , Carcinoma Adenoide Quístico/patología , Diferenciación Celular , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica/métodos , Perdida de Seguimiento , Márgenes de Escisión , Sarcoma/diagnóstico , Neoplasias Cutáneas/cirugía , Coloración y Etiquetado/métodos , Neoplasias de las Glándulas Sudoríparas/cirugíaRESUMEN
DICER1 tumor predisposition syndrome is a rare genetic disorder that predisposes individuals to multiple benign and malignant neoplasms. The phenotype is vast and includes pleuropulmonary blastoma (PPB), thyroid nodules, cystic nephroma, Wilms tumor, ovarian Sertoli-Leydig cell tumor, and medulloepithelioma, among others. Herein, we describe a patient with a DICER1 germline pathogenic variant presenting with two neoplasms that are not commonly encountered in the context of DICER1 syndrome. The first tumor is a multiloculated cystic hepatic lesion with a biphasic pattern, composed of cysts lined by bland biliary type (CK19-positive) epithelium surrounded by a condensation of sarcomatous spindled cell proliferation in a myxoid stroma. This neoplasm resembled PPB or cystic nephroma with malignant transformation. The second tumor is a chest nodule consistent with low-grade hidradenocarcinoma. Although it is difficult to speculate with just a single case, these unusual neoplasms occurring in particular at a young age raises the possibility that they can be inherent to, and thus, be part of the DICER1 tumor predisposition syndrome phenotype.
Asunto(s)
Acrospiroma/diagnóstico , Biomarcadores de Tumor/genética , ARN Helicasas DEAD-box/genética , Neoplasias Hepáticas/diagnóstico , Síndromes Neoplásicos Hereditarios/diagnóstico , Ribonucleasa III/genética , Sarcoma/diagnóstico , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Acrospiroma/genética , Adolescente , Niño , Femenino , Humanos , Neoplasias Hepáticas/genética , Mutación , Síndromes Neoplásicos Hereditarios/genética , Fenotipo , Sarcoma/genética , Neoplasias de las Glándulas Sudoríparas/genética , Adulto JovenRESUMEN
ABSTRACT: The malignant counterpart of cutaneous clear cell hidradenoma (CCH), hidradenocarcinoma, is an aggressive neoplasm that may have a fatal outcome. However, some cases of benign looking CCH with isolated lymph node involvement and excellent prognosis have been described. "CCH-like neoplasm of uncertain malignant potential" or "atypical hidradenoma" have been proposed as designations for these lesions. We report 3 cases of CCH with lymph node involvement. Ages ranged from 29 to 51 years old. All cases involved the inguinal lymph nodes: 2 of them presented with an isolated lymph node lesion, and the third case had lymph node and cutaneous involvement following the resection of a previous cutaneous lesion. Imaging studies showed no systemic involvement. None of the lesions exhibited histopathologic features of malignancy. All neoplasms were well circumscribed, had cystic spaces, did not display atypia or necrosis, and had less than 4 mitoses per high power field. No recurrence has been observed at follow-up after resection in all cases. All published cases of CCH with lymph node involvement so far affected a single lymph node in the axillary or inguinal regions, lacked features of malignancy, and had excellent long-term prognosis. Some cases previously reported as hidradenocarcinoma probably fit into this category. Our series adds more evidence to this rare phenomenon of "benign metastasis." Aggressive treatment should be avoided in these cases, and a long-term follow-up is warranted.
Asunto(s)
Acrospiroma/patología , Metástasis Linfática/patología , Neoplasias de las Glándulas Sudoríparas/patología , Adulto , Humanos , Masculino , Persona de Mediana EdadRESUMEN
ABSTRACT: A 91-year-old man presented with a tumor on the left temporal area, clinically suspicious of basal cell carcinoma. The histopathologic study showed a central solid-cystic tumor composed by 3 different types of cells (clear or finely granular cells, polygonal cells, and squamoid cells). It had a sclerotic stroma. At the periphery, another tumor composed by smaller interconnected nests was evident. Some nests were separated from the stroma by clefts. The stroma of this second tumor was highly cellular. There was a sharp delimitation between both tumors, with no transitional area. Immunochemistry demonstrated they are different tumor. A diagnosis of clear cell hidradenoma-basal cell carcinoma collision was performed. To the best of our knowledge, this is the first description of this challenging association.
Asunto(s)
Acrospiroma/patología , Carcinoma Basocelular/patología , Neoplasias de Cabeza y Cuello/patología , Neoplasias Complejas y Mixtas/patología , Neoplasias de las Glándulas Sudoríparas/patología , Acrospiroma/química , Acrospiroma/cirugía , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biopsia , Carcinoma Basocelular/química , Carcinoma Basocelular/cirugía , Neoplasias de Cabeza y Cuello/química , Neoplasias de Cabeza y Cuello/cirugía , Humanos , Inmunohistoquímica , Masculino , Neoplasias Complejas y Mixtas/química , Neoplasias Complejas y Mixtas/cirugía , Neoplasias de las Glándulas Sudoríparas/química , Neoplasias de las Glándulas Sudoríparas/cirugíaRESUMEN
ABSTRACT: Basal cell carcinoma (BCC) is the most common skin cancer, and it has numerous histologic mimics with variable prognoses and treatments. Although some immunohistochemical stains can be used for the differential diagnosis of BCC, variability and overlap in results can complicate their interpretation. Immunohistochemical staining for glioma-associated oncogene-1 (Gli-1) was performed on 26 nodular BCCs, 22 infiltrative BCCs, 9 basaloid squamous cell carcinomas, 12 desmoplastic trichoepitheliomas, 19 Merkel cell carcinomas, 11 sebaceous carcinomas, 10 cylindromas, 14 spiradenomas, 12 adenoid cystic carcinomas (AdCC), and 1 solitary trichoepithelioma. Strength of staining was scored as 0, 1+, 2+, or 3+, and distribution of staining was categorized as diffuse, multifocal, or focal. Strong, diffuse Gli-1 expression was seen in all tumors with basal epidermal-type differentiation, including BCC, trichoepithelioma, and basaloid squamous cell carcinoma. All examples of Merkel cell carcinoma were negative for cytoplasmic expression. Seven out of 11 sebaceous carcinomas were negative for Gli-1, and the remaining 4 showed 1+ expression. Cylindroma, spiradenoma, and AdCC, each an adnexal skin tumor, showed the most variable staining, but with cylindroma and spiradenoma demonstrating comparable labeling patterns. Overall, although Gli-1 may not distinguish between basal epidermal-type tumors, it may have a role in separating that group from lesions with adnexal differentiation, particularly sebaceous carcinoma, but also cylindroma, spiradenoma, and AdCC. Any cytoplasmic staining seems to exclude the diagnosis of Merkel cell carcinoma.