RESUMO
ABSTRACT: Cutaneous carcinoma of the scrotum is rare with the most common type being squamous cell carcinoma. Here, we report 6 cases of poorly differentiated carcinoma with apocrine immunophenotype. Mean age at presentation was 68 years (range: 31-91 years). Clinical presentation included eczematous rash over mass, scrotal cyst, ulcerated mass, and mass. Tumor size ranged from 1.2 to 5.5 cm (average 2.5 cm). The tumors were solid with involvement of the dermis/hypodermis and composed of cords and nests of eosinophilic cells displaying nuclei with prominent nucleoli and surrounded by desmoplastic stroma. Focal squamous differentiation was evident in one case (17%). An intraductal component was seen in one case (17%). Pagetoid spread in the epidermis was seen in 3 cases. There was no morphologic evidence of apocrine differentiation. By immunohistochemistry, the tumor cells were positive for GCDFP-15 (n = 6/6), GATA3 (n = 6/6), CK7 (n = 5/5), AR (n = 4/4), and mammaglobin (n = 3/5). Five (83%) patients had metastases at diagnosis. Treatment included wide local excisions and inguinal lymph node dissection, followed by chemotherapy (gemcitabine, carboplatin; n = 3), trastuzumab/Lupron (n = 1), tamoxifen/Arimidex (n = 1), and radiotherapy (n = 1). Two patients (40%) were dead of disease, less than 2 years from diagnosis. Four patients developed metastases to lymph nodes, liver, bones, and lungs. Molecular analysis (n = 2) detected a HER-2 mutation in one and microsatellite instability in another. Although the presence of an intraepidermal pagetoid component could hint toward the diagnosis of invasive extramammary Paget disease, tumors without an intraepidermal component could be diagnostically challenging given the lack of morphologic evidence of apocrine differentiation.
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Carcinoma de Células Escamosas/diagnóstico , Escroto , Neoplasias Cutâneas/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Glândulas Apócrinas , Carcinoma de Células Escamosas/secundário , Carcinoma de Células Escamosas/terapia , Terapia Combinada , Humanos , Imuno-Histoquímica , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapiaRESUMO
No well-established staging system exists for bladder leiomyosarcoma (LMS), and the current staging system does not include tumor size, a thoroughly validated prognostic parameter for sarcomas. Uterine and extremity/trunk LMS are more common than those in the bladder and have well-established staging systems incorporating tumor size. We aim to improve the understanding of LMS of the urinary bladder by assessing cancer-specific survival (CSS) and comparing LMS at this unusual anatomic site to those arising at other sites using the Surveillance, Epidemiology, and End Results (SEER) database. The SEER database (1973-2013) was queried for bladder, uterus, and trunk/extremity LMS. Multivariable Cox proportional hazard regression was performed to identify predictors of CSS for each anatomic location and used to compare outcomes at different sites. We identified 165 bladder, 4987 uterus, and 2536 extremity/trunk LMS cases. Five-year CSS was 52% for uterus, 73% for bladder, and 82% for extremity/trunk LMS. For LMS at all sites, uterine location (HR = 2.14, P < 0.001) and increasing tumor size (HR = 1.05, P < 0.001) were significant predictors of worse CSS on multivariate analysis. For bladder LMS, increasing tumor size (HR = 1.18, P = 0.003) was an independent prognostic factor and the conventional staging cut-off threshold of 5 cm for sarcomas outside the head/neck showed statistical significance in stratifying patient risk of cancer-related death. Bladder LMS appears to have clinical behavior intermediate between those of the extremities/trunk and uterus. We suggest that the conventional sarcoma staging protocols based on tumor size be applied to LMS of the urinary bladder.
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Leiomiossarcoma/diagnóstico , Sarcoma/diagnóstico , Bexiga Urinária/patologia , Útero/patologia , Idoso , Bases de Dados Factuais , Monitoramento Epidemiológico , Extremidades/patologia , Feminino , Humanos , Leiomiossarcoma/epidemiologia , Leiomiossarcoma/mortalidade , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estadiamento de Neoplasias/métodos , Prognóstico , Medição de Risco , Sarcoma/epidemiologia , Sarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Análise de Sobrevida , Tronco/patologia , Carga TumoralRESUMO
Background: Sirenomelia is a lethal congenital anomaly, presenting with fusion of lower extremities and malformed perineum. The pathogenesis is unclear, and "defective blastogenesis" is the proposed mechanism. Chlamydia trachomatis (CT) is an obligate intracellular pathogen which reportedly invades placenta and may result in fetal demise. It has documented cytopathogenic effects, specifically, cellular disruption, tissue dysgenesis, and genomic instability.Case report: An infant with sirenomelia was born as a product of 30 weeks of pregnancy, which was normal except for a persistent maternal CT infection. The infant expired shortly after birth.Conclusion: Fetal invasion by CT, conceivably, may induce structural anomalies, such as sirenomelia by virtue of its cytopathic effects. We intend to draw attention to such a possibility by reporting this case. This association, however, is speculative and more cases of sirenomelia with CT positive mothers need to be described in order to make definite conclusions about such a relationship.
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Infecções por Chlamydia/patologia , Chlamydia trachomatis , Ectromelia/patologia , Feto/patologia , Infecções por Chlamydia/microbiologia , Feminino , Morte Fetal/prevenção & controle , Feto/microbiologia , Humanos , Recém-Nascido , Placenta/microbiologia , Placenta/patologia , GravidezAssuntos
Endometriose , Endometriose/diagnóstico , Endometriose/cirurgia , Pálpebras , Feminino , HumanosRESUMO
INTRODUCTION: There are scant data on renal cell carcinoma (RCC) from relatively younger patients in South America using contemporary classification. METHODS: Fifty-nine consecutively treated patients with RCC (≤40 years old) were assessed from the National Institute of Neoplastic Diseases in Peru from 2008 to 2020 (34 males; 25 females), age range of 13 to 40 years. RESULTS: Most common presenting symptoms were flank pain (n = 40), hematuria (n = 19), and weight loss (n = 12). Associated conditions included 4 patients with proven or presumed tuberous sclerosis and 1 patient with von Hippel Lindau syndrome, all with clear cell RCC. Tumor histopathology was clear cell RCC in 32 of 59 (54%), chromophobe RCC in 6 of 59 (10%), and 5 of 59 (8%) each of papillary RCC and MiT family translocation-associated RCC. Four of 59 (7%) were FH-deficient RCC and 2 of 59 (3%) remained unclassified. The remaining tumors were isolated examples of clear cell papillary renal cell tumor, eosinophilic solid and cystic RCC (ESC RCC), RCC with fibromyomatous stroma, sarcomatoid RCC, and sarcomatoid clear cell RCC. Of the 4 FH-deficient RCCs, none had the classic morphology. The 5 MiT family translocation RCCs had variable morphology. There were 41 tumors without recurrence or metastases, 3 tumors with local recurrence only, 8 tumors with metastases only, and 7 tumors with both local recurrence and metastases. CONCLUSIONS: The current study demonstrates the importance of special studies in accurately classifying RCC in younger individuals. The distribution of RCC subtypes in younger individuals is similar between 2 representative large institutions of the United States and Peru.
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Carcinoma de Células Renais , Neoplasias Renais , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Carcinoma de Células Renais/patologia , Neoplasias Renais/patologia , Peru/epidemiologia , Translocação Genética , HematúriaRESUMO
We present an 18-year-old male patient who presented with a 16 cm testicular tumor alongside multiple lesions in the lungs, right pelvis with involvement of the ischio/pubic bone, and enlarged pelvic lymph nodes on imaging, suspicious for metastatic disease. Histologic and immunohistochemical examinations revealed an embryonic type neuroectodermal tumor (somatic-type malignancy, 10%) arising in a malignant mixed germ cell tumor composed of teratoma (50%), embryonal carcinoma (10%) and yolk sac tumor (30%). After treatment with chemotherapy and radiation, repeat imaging demonstrated a right pelvic sidewall mass that decreased in size from 40 mm at 11 months after the initial diagnosis to 18 mm at 22 months after the initial diagnosis. A right pelvis medial thigh wall mass that had a lytic bone component showed a slight increase in size from 151 mm at 11 months after the initial diagnosis to 154 mm at 22 months after the diagnosis. On biopsies performed at 3, 10, and 26 months after the initial diagnosis, this lytic lesion consistently demonstrated a neoplasm composed of low-grade neuroglial differentiation. This is the first case in the medical literature where a residual malignant germ cell tumor consisting of low-grade neuroglial neoplasm is in a site that is not amenable to resection without significant morbidity. The tumor initially regressed with the traditional first-line chemo-radiotherapy regimen but regrew and stabilized with a second regimen of chemotherapy. The clinical course of this case invites consideration for an active surveillance approach in cases with similar characteristics.
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Neoplasias Embrionárias de Células Germinativas , Neoplasias Testiculares , Humanos , Masculino , AdolescenteRESUMO
Spindle cell lesions of the breast comprise a diverse set of tumors; harboring significant histological and immunohistochemical (IHC) overlap. Accurate diagnosis and classification of spindle cell lesions in the breast remains challenging, especially in core biopsies. In the current study, we evaluated a spectrum of spindle cell lesion of the breast with a panel of IHC antibodies in an effort to differentiate metaplastic spindle cell carcinoma from its benign and malignant mimickers. Our study included 92 patients who underwent breast core biopsies or breast resections at Northwell Health who were diagnosed with benign and malignant tumor/tumor-like spindle cell lesions. Tumors subtypes in this the study included: angiosarcoma, nodular fasciitis, fibromatosis, myofibroblastoma, phyllodes tumors (benign, borderline and malignant), primary sarcomas and metaplastic spindle cell carcinoma. Our biomarker panel included high molecular weight keratin (HMWK), CAM5.2, AE1/AE3, p63, CD34 and GATA3. GATA3 expression was significantly higher in metaplastic carcinomas (88.9 % vs 4.1 %, p < 0.001), when compared to other spindle cell lesions. The sensitivity and specificity for detecting metaplastic carcinomas reached 84.2 % and 97.3 %, respectively. Regarding cytokeratin panels, none of the three individual markers were as sensitive or specific for metaplastic breast carcinoma. GATA3 is the most specific and sensitive marker forfor the identification of metaplastic spindle cell carcinoma of the breast.
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Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/diagnóstico , Carcinoma/patologia , Fator de Transcrição GATA3/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Metaplasia/patologia , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
The antibody-drug conjugate enfortumab-vedotin acts by targeting nectin-4, a protein that is nearly ubiquitously expressed in conventional urothelial cancer. However, expression of nectin-4 in morphologic variants of urothelial carcinoma and nonurothelial histotypes was unknown. Immunohistochemistry for nectin-4 using was performed on 169 patients including 83 with nonmuscle invasive bladder cancer and 86 patients with muscle invasive bladder cancer. Staining was scored for intensity (0 to 3) and extent (% positive cells) using the histological score system, where >15 was considered positive. Overall, 72/83 (87%) samples of nonmuscle invasive urothelial carcinoma were positive, including 29/30 (97%) noninvasive papillary urothelial carcinomas, 7/8 (87.5%) carcinomas in situ, 36/45 (80%) papillary urothelial carcinomas invading the lamina propria. Overall, 50/86 muscle invasive tumors were positive, including 15/22 (68.2%) urothelial carcinomas, 7/10 (70%) squamous cell carcinomas, 3/11 (28%) micropapillary tumors, 4/6 (66%) adenocarcinomas, 2/4 (50%) nested carcinomas, 5/8 (63%) plasmacytoid, 1/10 (10%) sarcomatoid carcinomas, and 0/15 (0%) small cell carcinomas. Whole transcriptome RNA sequencing revealed that compared with conventional urothelial carcinomas, most sarcomatoid carcinomas and all but 2 small cell carcinomas expressed very low levels of nectin-4 mRNA but expressed significant levels of either trop2 or ERBB2, which are the molecular targets of 2 other antibody-drug conjugates-sacituzumab gavitecan (trop2) or trastuzumab deruxtecan (ERBB2/HER2). In summary, our study demonstrates that there is heterogeneity of expression of nectin-4 in morphologic variants of urothelial cancer and nonurothelial histotypes, and suggests that testing expression of nectin-4 should be considered in morphologic variants or nonurothelial histotypes found to have lower expression.
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Moléculas de Adesão Celular/biossíntese , Regulação Neoplásica da Expressão Gênica , Proteínas de Neoplasias/biossíntese , Neoplasias da Bexiga Urinária/metabolismo , Bexiga Urinária/metabolismo , Urotélio/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , RNA-Seq , Estudos Retrospectivos , Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/classificação , Neoplasias da Bexiga Urinária/patologia , Urotélio/patologiaRESUMO
OBJECTIVE: To evaluate the clinical features, pathologic features, and prevalence of human papilloma virus (HPV) in squamous cell carcinoma (SCC) of the bladder. SCC of the bladder is known to be associated with conditions that cause chronic inflammation/irritation. The literature is inconsistent regarding the association of HPV with pure SCC of the bladder. METHODS: A multi-institutional study identified cases of SCC of the bladder. Pure squamous histology and the absence of urothelial carcinoma in situ were required for inclusion. Clinical and pathologic features were collected, and tissues were evaluated for high-risk HPV using p16 immunohistochemistry and in situ hybridization. RESULTS: We identified 207 cases of SCC of the bladder. Risk factors for bladder cancer included smoking (133/207, 64%) and chronic bladder irritation (83/207, 40%). The majority (155/207, 75%) of patients had > pT2 disease. Mean tumor size was 5.6 ± 3.0 cm and 36/207 (17%) patients had lymph node positive disease. p16 immunohistochemistry was positive in 52/204 (25%) cases but high-risk HPV was identified with in situ hybridization in only 1 (0.5%) case. Tumor size, stage, number of lymph nodes removed, number of positive lymph nodes, lymphovascular invasion, perineural invasion, and positive margins each were associated with cancer-specific mortality when adjusted for demographic factors. A multivariate analysis of variable importance further revealed sex and race as important factors in predicting cancer-specific mortality. CONCLUSION: SCC of the bladder is an aggressive histologic subtype. Although bladder SCC can express p16, it is not typically associated with high-risk HPV, although rare cases can occur.