e17522 Background: Cervical cancer is driven by human papillomavirus (HPV) infection yet lacks molecularly defined subtypes and approved targeted therapies. We defined molecular subtypes of cervical cancer and identify actionable therapeutic vulnerabilities. Methods: Whole-exome sequencing on cervical tumors from Guatemala and Venezuela, with validation in TCGA, AACR Genie, and Caris cohorts. Functional studies were conducted in cervical cancer cell lines using targeted inhibitors, immune co-culture assays, and proliferation analyses. Results: We identified four somatic mutation subtypes of cervical cancer: (I) No mutation ( PIK3CA / STK11 wild-type (wt) without YAP1 amplification); (II) PIK3CA -mutant, wt for STK11 , YAP1 ; (III) YAP1 -amplified, wt for PIK3CA , STK11 ; and (IV) STK11 -mutated or deleted, wt for PIK3CA , YAP1 . STK11 alterations were significantly enriched in adenocarcinomas compared with squamous cell carcinomas (23%, X 2 =4.4; p = 0.0037) and were confirmed in the AACR Project GENIE (p = 0.035) and Caris cohorts (p = 2.5e-06). YAP1 amplification and STK11 alterations were associated with younger age at diagnosis and poorer overall survival compared to subtype I. STK11 alterations also correlated with inferior outcomes following immunotherapy compared to subtype I. PI3Kα-specific inhibitors (alpelisib and inavolisib) selectively suppressed proliferation in PIK3CA -mutant cervical cancer cell lines but not in PIK3CA wt cell lines. However, the pan-AKT inhibitor capivasertib showed variable activity, inhibiting some but not all PIK3CA -mutated cell lines and the SiHa (PIK3CA wt) cell line. Alpelisib reduced the expression of HPV16 E7, CD274/PD-L1 , YAP1 , and EGFR exclusively in PIK3CA -mutant cell lines. We tested for synergy between PI3Kα inhibition and immune-directed therapy. In HPV16-positive, HLA-A2, PIK3CA -mutant cells, alpelisib enhanced antigen-specific T cell–mediated cytotoxicity, with maximal effect observed following drug pretreatment and washout prior to T cell exposure. Conclusions: Our findings define clinically relevant molecular subtypes of cervical cancer and identify PIK3CA -mutant tumors as sensitive to PI3Kα inhibition. In published clinical studies, 7 patients with PIK3CA -mutant cervical cancer treated with alpelisib achieved partial response or stable disease. Combining PI3K inhibitors with immunotherapy represents a promising strategy for advanced cervical cancer. Distribution of cervical cancer subtypes by histology. Type I WT Type II PIK3CA Type III YAP1 Type IV STK11 SCC AD SCC AD SCC AD SCC AD Sum 1425 641 724 241 174 23 105 83 % Adeno in type 31% 25% 12% 44% Total (%) 2068 (60%) 965 (28%) 197 (5.7%) 188 (5.5%) Pooled data from Guatemala, TCGA, AACR Genie, and Caris datasets. SCC, squamous cell carcinoma; AD, adenocarcinoma.

Between 10 and 20% of cervical cancers are adenocarcinomas with poorer five-year survival and higher recurrence. To identify somatic alterations driving cervical cancer, we performed whole-exome sequencing of 308 subjects with invasive disease from Guatemala and Venezuela. Consistent with other studies, there is a higher rate of TP53 mutations in adenocarcinomas versus squamous cell carcinomas (SCC), especially in HPV-negative tumors. We identified a higher rate of mutations and deletions (23%) in the STK11 tumor suppressor gene in adenocarcinomas versus SCC. This result was confirmed in the AACR Project Genie and Caris cohorts. Whole-genome sequencing and SNP-array data identified significant numbers of focal deletions on chr19p that disrupt STK11, undetected by exome sequencing. In one tumor, HPV integration disrupts STK11. Chr19p is commonly deleted in cervical cancer, and we document a high rate of independent inversions, chromosomal translocations, and breakage-fusion-bridge events that provide the second hit to STK11. Significantly, STK11 alterations are associated with a younger age of onset and poorer overall survival and survival on immunotherapy. Apart from STK11, PIK3CA mutations and YAP1 amplification are prevalent cervical cancer drivers. STK11 mutations and deletions co-occur significantly with YAP1 amplifications, suggesting an interaction between these pathways. In contrast, STK11 alterations are mutually exclusive to PIK3CA mutation, suggesting redundancy. Cervical adenocarcinomas exhibit significantly lower CD274 (PD-L1) expression and a poorer response to immune checkpoint inhibitors (ICIs). STK11 mutations are associated with poor responses to ICI in other cancers, and elucidating the role of STK11 in cervical cancer may improve targeted and immunotherapies.

ABSTRACT Cervical adenocarcinoma accounts for 15%–20% of cervical cancers and is associated with poorer survival and reduced response to screening and immunotherapy compared with squamous cell carcinoma (SCC). The genomic drivers underlying this molecular subgroup remain incompletely characterized. Whole‐exome sequencing was performed on 302 invasive cervical cancers from Guatemala and Venezuela. Structural variation analysis was conducted using SNP‐array and whole‐genome sequencing data. Findings were replicated in more than 4600 additional cervical cancer samples from TCGA, AACR Project GENIE, MSKCC, and Caris datasets. TP53 mutations were more frequent in adenocarcinoma than SCC, particularly in HPV‐negative tumors. STK11 alterations, including mutations and focal deletions, were significantly enriched in HPV‐positive adenocarcinomas compared with SCC and affected 23% of adenocarcinomas overall. Whole‐genome analyses identified recurrent focal deletions, inversions, chromosomal rearrangements, and breakage‐fusion‐bridge events involving chromosome 19p and STK11 that were not detected by exome sequencing alone. STK11 alterations were associated with younger age at diagnosis, poorer overall survival, and inferior outcomes following immune checkpoint inhibitor (ICI) therapy. STK11 alterations significantly co‐occurred with YAP1 amplification but were largely mutually exclusive with PIK3CA mutation. Cervical adenocarcinomas also demonstrated significantly lower CD274 (PD‐L1) expression than SCC. STK11 alterations define a distinct molecular subgroup of cervical adenocarcinoma characterized by structural disruption of chromosome 19p, younger age at onset, and poorer clinical outcomes. These findings have implications for molecular classification and future targeted therapeutic approaches in cervical cancer.

To better understand cervical cancer progression, we analyzed RNA from 262 biopsies from women referred for colposcopy. We determined the HPV type and analyzed the expression of 51 genes. HPV31 was significantly more prevalent in precancer than stage 1 cancer and invasive cancer (p < 0.0001), and HPV16 increased in invasive disease (p < 0.0001). CCNE1, MELTF, and ULBP2 were significantly increased in HPV16-positive compared to HPV31 precancers, while NECTIN2 and HLA-E expression decreased. Markers of the innate immune system, DNA repair genes, and cell cycle genes are significantly increased during cancer progression (p = 0.0001). In contrast, the TP53 and RB1 tumor suppressor gene expression is significantly decreased in cancer cells. The T cell markers CD28 and FLT3LG expression decreased in cancer while FOXP3, IDO1, and ULBP2 expression increased. There is a significantly higher survival rate in individuals with increased expression of CD28 (p = 0.0005), FOXP3 (p = 0.0002), IDO1 (p = 0.038), FLT3LG (p = 0.026), APOBEC3B (p = 0.0011), and RUNX3 (p = 0.019), and a significantly lower survival rate in individuals with increased expression of ULBP2 (p = 0.035). These results will help us elucidate the molecular factors influencing the progression of cervical precancer to cancer. Understanding the risk of progression of specific HPV types and sublineages may aid in the triage of positive patients, and better knowledge of the immune response may aid in developing and applying immunotherapies.

Purpose of the study: YAP1 is the most frequently amplified oncogene in cervical cancer. The Cancer Genome Atlas Research Network study showed that the YAP1 (11q22) oncogene is amplified in 11% of cervical cancer cases. Our lab recently identified that YAP1 oncogene amplification is associated with a 12-year earlier age of diagnosis, poorer survival, and defies a novel aggressive cervical cancer subtype that is more frequent in minority populations. The present study aims to characterize 19 YAP1 amplified cervical cancers from Guatemala and Venezuela via Oxford Nanopore technology (ONT) whole genome long-read sequencing. Methods: In this study, 380 cervical cancer patients were assessed for YAP1 amplification using a TaqMan assay, with 45 samples identified as positive for YAP1 amplification. These 45 samples were then subjected to whole genome sequencing with 5x coverage using Oxford Nanopore Technologies (ONT) to confirm the amplification status. A subset of 19 YAP1-amplified samples underwent deeper sequencing via ONT-LSK114 library preparation. The HPV integration status in these samples was determined by uploading the sequencing data (fastq_pass files) to the Cancer Genomics Cloud, where breakpoints were manually examined using the Integrated Genome Viewer (IGV). HPV and human DNA segments were further analyzed and identified using bioinformatics tools such as BLAT and BLAST. Results: In our study, we confirmed YAP1 amplification in 24 out of 45 tumor samples using barcode sequencing, and due to limited DNA availability (1 µg), only 19 of these samples underwent deep sequencing with 25-30x coverage. Notably, we observed a higher frequency of HPV integration (11/19) in YAP1-amplified tumors compared to those with episomal HPV status, suggesting a potential link between HPV integration and YAP1 amplification. We noticed that YAP1 amplification is driven by Breakage-Fusion-Bridge (BFB) events, which also lead to the co-amplification of the nearby BIRC2/3 genes, contributing to genomic instability and immune escape. This mechanism was further supported by a similar pattern observed in the TCGA whole genome sequence data, where 27 out of 31 YAP1-amplified cervical tumors also exhibited BFB events. Finally, treatment with the PIK3CA inhibitor Alpelisib resulted in a decrease in YAP1 protein levels in CaSki cells, a cervical cancer cell line with mutated PIK3CA and amplified YAP1 expression. Conclusions: These findings highlight a possible interplay between HPV integration and BFB-driven amplification of YAP1 and its neighboring genes, offering insights into potential therapeutic targets for this novel aggressive subtype of cervical cancer. Citation Format: Sonam Tulsyan, Hong Lou, Yi Xie, Emma Robinson, Danielle Kayembe, Eduardo Gharzouzi, Roberto Orozco, Enrique Alvirez, Michael Dean. Identifying a novel aggressive subtype of cervical cancer predominantly affecting minority populations through long-read whole genome sequencing [abstract]. In: Proceedings of the AACR Special Conference in Cancer Research: Functional and Genomic Precision Medicine in Cancer: Different Perspectives, Common Goals; 2025 Mar 11-13; Boston, MA. Philadelphia (PA): AACR; Cancer Res 2025;85(5 Suppl):Abstract nr B018.

Angiostrongyliasis, an infection caused by nematodes of the genus Angiostrongylus spp., includes nine species in the Americas. Angiostrongylus costaricensis induces eosinophilic enteritis in humans and has been documented in Guatemala. Humans are considered accidental or final hosts of A. costaricensis, as they do not release eggs or larvae in their faeces. Most reported cases present with abdominal angiostrongyliasis (AA). Parasitic structures are difficult to identify in inflammatory lesions and larvae can occasionally migrate to extraintestinal organs. The gold standard for diagnosing A. costaricensis is histopathological analysis, confirmed by the identification of eggs, larvae in tissues, and/or adult worms in the vascular lumen. In our department, two cases of A. costaricensis affecting pulmonary vessels were diagnosed histopathologically. Given the rarity of pulmonary involvement, the cases were consulted with Dr. Carlos Graeff-Teixeira.

ANTECEDENTES: En el marco de presentación de una masa renal, las lesiones en glándulas suprarrenales son sospecha de metástasis hasta demostrar lo contrario. El carcinoma de células renales y el adenoma adrenal sincrónicos son raros e infrecuentemente sindromáticos; sin embargo, es importante conocer su existencia para evitar sobre diagnosticar una enfermedad metastásica. OBJETIVO: Presentar el caso de paciente con carcinoma de células renales y adenoma adrenal sincrónicos, describiendo la presentación clínica, diagnóstico, tratamiento y evolución de esta rara asociación patológica. MATERIAL Y MÉTODOS: Paciente femenina de 52 años, hospitalizada por seguimiento de masa renal izquierda, la cual fue diagnosticada por ultrasonido realizado por dolor abdominal difuso, de tres meses de evolución. Durante su estancia hospitalaria se efectuó una nefrectomía radical izquierda videolaparoscópica. En el departamento de patología se recibió un riñón izquierdo de 13 x 8 cm, cuyo corte mostró una masa de 8 x 7 cm en polo superior y tercio medio. También se recibió glándula adrenal izquierda conteniendo masa amarillenta, de 2 x 1.5 x 1 cms. RESULTADOS: A la microscopía de la masa renal se evidencio una neoplasia compuesta por células con patrón de crecimiento anidado, citoplasma claro y nucleolos visibles, acompañados por una red de pequeños vasos. Además de un adenoma adrenocortical.

Purpose Recruit and sequence breast cancer subjects in Guatemalan and US Hispanic populations. Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. Methods We used targeted gene sequencing to identify pathogenic variants in 19 familial breast cancer susceptibility genes in DNA from unselected Hispanic breast cancer cases in the US and Guatemala. Recruitment across the US was achieved through community-based strategies. In addition, we obtained patients receiving cancer treatment at major hospitals in Texas and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1 , BRCA2 , CHEK2 , and ATM . In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic variants (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status ( p < 0.001). Conclusion Guatemalan and US Hispanic women have rates of hereditary breast cancer pathogenic variants similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women.

To better understand cervical cancer progression, we analyzed RNA from 262 biopsies from women referred for colposcopy We determined HPV type and analyzed the expression of 51 genes. HPV31 was significantly more prevalent in precancer than stage 1 cancer and invasive cancer (p < 0.0001) and HPV16 increased in invasive disease (p < 0.0001). CCNE1, MELTF, and ULBP2 were significantly increased in HPV16-positive compared to HPV31 precancers while NECTIN2 and HLA-E expression decreased. Markers of the innate immune system, DNA repair genes, and cell cycle genes are significantly increased during cancer progression (p = 0.0001). In contrast, the TP53 and RB1 tumor suppressor gene expression is significantly decreased in cancer cells. TheT cell markers CD28 and FLT3LG expression decreased in cancer while FOXP3, IDO1, and ULBP2 expression increased. There is a significantly higher survival rate in individuals with increased expression of CD28 (p = 0.0005), FOXP3 (p = 0.0002), IDO1 (p = 0.038), FLT3LG (p = 0.026), APOBEC3B (p = 0.0011), and RUNX3 (p = 0.019), and a significantly lower survival rate in individuals with increased expression of ULBP2 (p = 0.035). These results will help us understand the molecular factors influencing the progression of cervical precancer to cancer. ### Competing Interest Statement The authors have declared no competing interest.

Abstract HPV16 is the most oncogenic type of human papillomaviruses (HPV). Integration of HPV into the human genome is an important mechanism of carcinogenesis but is absent in at least 30% of HPV16+ tumors. We applied long-read whole-genome sequencing (WGS) to cervical cancer cell lines and tumors to characterize HPV16 carcinogenesis in the absence of integration. Large tandem arrays of full-length and unique truncated viral genomes integrated into multiple chromosomes were identified in two HPV16+ cell lines. The dispersion of characteristic viral variants to multiple integration sites indicates that viral deletions formed as extrachromosomal DNA (a phenomenon we term HPV superspreading). In addition, we identified an HPV16+ cell line with unintegrated (episomal) DNA that has tandem arrays of full-length, truncated, and rearranged HPV16 genomes (multimer episomes). Cytogenetic analysis of this cell line shows intense extrachromosomal HPV staining, including structures resembling double-minute chromosomes. WGS of HPV16+ cervical tumor samples from Latin America revealed that 11 of 20 tumors with only episomal HPV (EP) had intact monomer episomes. The remaining nine EP tumors had multimer and rearranged HPV genomes. The majority (80%) of HPV rearrangements and deletions disrupted the E1 and E2 genes, and EP tumors overexpressed the E6 and E7 viral oncogenes, a similar profile to tumors with HPV integration. Tumors with putative multimer HPV integrations display HPV multimers and concatemers of human and viral sequences. Our data uncovered a novel mechanism for HPV16 to cause cancer without integration through aberrant episomal replication, forming rearranged, mutated, and multimer episomes. Significance: Multimers of the HPV genome are generated in cervical tumors replicating as extrachromosomal episomes, which is associated with deletion and rearrangement of the HPV genome and provides a mechanism for oncogenesis without integration.

Abstract Background: Mutations in hereditary breast cancer genes play an essential role in cancer risk. Little is known of the type and frequency of mutations in Hispanic populations in the United States and Central American countries, including Guatemala. Methods: We used exome sequencing to identify mutations in blood DNA from unselected Hispanic breast cancer cases from community recruitment and from two hospitals each in Texas and Guatemala. Data from a structured questionnaire was used to compare mutation carriers of medium and high penetrance genes. Variants were annotated with ClinVar and VarSome. Results: We recruited 262 Hispanic US women, 37 (14%) from community-based recruitment and 225 (86%) from hospitals in Texas. In addition, we ascertained 633 patients from two hospitals in Guatemala City. A total of 91 out of 895 subjects (10%) had a variant classified as pathogenic in a gene with known high or medium penetrance for inherited breast cancer. The most frequently mutated genes were the high penetrance BRCA1 (44/895, 4.9%) followed by BRCA2 (23/895, 2.6%), PALB2 (5/895, 0.6%), CHEK2 (5/895 0.6%), ATM (6/895, 0.7%) and TP53 (6/895, 0.7%). Pathogenic variants were also detected in the moderate penetrance genes BARD1 and MSH6, and rare pathogenic variants detected in the low penetrance genes AXIN2, FH, MLH1, MSH2, MUTYH, NF1, and SDHB. The high ratio of BRCA1/BRCA2 mutations is due to the presence of two potential founder mutations, BRCA1 c.212+1G>A splice mutation (18 cases) and BRCA1 c.799delT (9 cases) in Guatemala. Compared to all others, cases with pathogenic mutations had a significantly earlier age at diagnosis (45 vs. 52 years, P<0.001) and were more likely to have a diagnosis before menopause. A higher percentage of mutation carriers had a relative with any cancer (51% vs. 37%, P=0.038) or breast cancer (33% vs. 15%, P<0.001). Patients with pathogenic mutations had a significantly higher percentage of triple-negative disease (60% vs. 13%, P=0.00046). Finally, mammography usage was less frequent in women with a lower socioeconomic status, indicating that this group is less likely to be screened for breast cancer (P<0.001). Conclusions: Guatemalan women have rates of hereditary breast cancer mutations like other populations, and these women are more likely to have early age at diagnosis, triple-negative disease, and family history. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients and those at high risk as part of a strategy to reduce breast cancer mortality in Hispanic women. Citation Format: Jesica Godinez Paredes, Isabel Rodriguez, Megan Ren, Anali Orozco, Jeremy Ortiz, Anaseidy Albanez, Catherine Jones, Zeina Nahleh, Lilian Barreda, Lisa Garland, Dongjing Wu, Jiahui Wang, Victor Argueta, Roberto Orozco, Eduardo Gharzouzi, Michael Dean. Germline mutations in breast cancer genes are associated with early age of diagnosis and triple negative disease in Guatemalan and US Hispanic women [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 1938.

Purpose Identify optimum strategies to recruit Latin American and Hispanic women into genetic studies of breast cancer. We evaluated hospital and community-based recruitment strategies. Methods We used targeted gene sequencing to identify mutations in DNA from unselected Hispanic breast cancer cases from community and hospital-based recruitment in the US and Guatemala. Results We recruited 287 Hispanic US women, 38 (13%) from community-based and 249 (87%) from hospital-based strategies. In addition, we ascertained 801 Guatemalan women using hospital-based recruitment. In our experience, a hospital-based approach was more efficient than community-based recruitment. In this study, we sequenced 103 US and 137 Guatemalan women and found 11 and 10 pathogenic variants, respectively. The most frequently mutated genes were BRCA1, BRCA2, CHEK2 , and ATM . In addition, an analysis of 287 US Hispanic patients with pathology reports showed a significantly higher percentage of triple-negative disease in patients with pathogenic mutations (41% vs. 15%). Finally, an analysis of mammography usage in 801 Guatemalan patients found reduced screening in women with a lower socioeconomic status (P<0.001). Conclusions Guatemalan and US Hispanic women have rates of hereditary breast cancer mutations similar to other populations and are more likely to have early age at diagnosis, a family history, and a more aggressive disease. Patient recruitment was higher using hospital-based versus community enrollment. This data supports genetic testing in breast cancer patients to reduce breast cancer mortality in Hispanic women.

Las neoplasias malignas primarias múltiples (NMPM) se describen como dos o más neoplasias malignas primarias independientes, en el mismo o diferentes órganos de un paciente. Los segundos cánceres más comunes en pacientes con cáncer de pulmón son otros cánceres primarios de pulmón, seguido de colorrectal y vejiga; sin embargo, la coexistencia de carcinoma de células pequeñas de pulmón y carcinoma hepatocelular es poco frecuente según la literatura en inglés y en español. Se presenta el caso de un carcinoma de células pequeñas de pulmón y carcinoma hepatocelular en estudio de necropsia de paciente masculino de 80 años de edad.

Introducción: el rinoescleroma es una enfermedad granulomatosa crónica que afecta el tracto respiratorio superior, principalmente las fosas nasales y progresa lentamente. El diagnóstico histológico se confirma por la demostración de células típicas de Mikulicz, infiltrado linfoplasmocítico y cuerpos de Russell. Objetivo: conocer la situación actual de rinoescleroma en nuestro hospital y compararla con estudios previos del país, para determinar la tendencia de su frecuencia. Material y métodos: estudio retrospectivo realizado durante el periodo de abril de 2010 a marzo de 2021, en el Hospital General San Juan De Dios de la ciudad de Guatemala. Resultados: se incluyeron 11 casos, 8 mujeres y 3 hombres, con una edad promedio de 28 años. Conclusión: la importancia de este estudio es que a pesar de que es una entidad que ha disminuido considerablemente, en el país sigue siendo endémica

Los teratomas testiculares son neoplasias de células germinales relativamente comunes y, en pacientes post puberales, frecuentemente son parte de un tumor mixto de células germinales. Pueden tener malignidad de tipo somático, lo cual cambia negativamente el pronóstico de los pacientes. Se realizó una búsqueda de los casos de teratomas con malignidad de tipo somático recibidos entre el 1 de enero de 2008 al 31 de diciembre de 2021, en el hospital General San Juan de Dios, encontrando 13 casos que cumplían con los criterios, los cuales representaron un 52% de todos los tumores de células germinales con componente de teratoma.

Introducción. La metaplasia intestinal es considerada un precursor de cáncer gástrico. Sus causas son variadas e incluyen gastritis por bacterias como Helicobacter pylori. Objetivo. Determinar la tendencia de la frecuencia de metaplasia intestinal en biopsias gástricas de pacientes del Hospital General San Juan de Dios (HGSJDD). Material y métodos. Se revisaron las laminillas de las primeras 100 biopsias gástricas ingresadas al departamento de patología en los años 2010, 2013, 2016 y 2019. Resultados. Se revisaron 400 biopsias gástricas, de las cuales 21.75% fueron positivas. Conclusión. Existe una frecuencia importante de metaplasia intestinal en las biopsias gástricas recibidas en el Departamento de Patología del HGSJDD.

El rabdomiosarcoma en localización paratesticular es raro, observándose sólo en el 7-10% de los casos de esta neoplasia en la población masculina. Por otra parte, el rabdomiosarcoma primario de la túnica vaginal es extremadamente raro, sólo hallamos 4 casos previos en la literatura en inglés. Reportamos el caso de un adolescente de 15 años de edad con una masa en testículo derecho según ultrasonido. Sin embargo, en el examen macroscópico de la pieza resecada se observó hidrocele y engrosamiento de la túnica vaginal. El testículo no mostró lesiones. En los cortes histológicos de la túnica vaginal se observó una morfología clásica de rabdomiosarcoma, diagnóstico confirmado mediante tinción positiva para Miogenina. Las características observadas, incluyendo su presentación como hidrocele y engrosamiento de la túnica vaginal, fueron idénticas a las de los 4 casos reportados previamente. Siete meses posterior al diagnóstico, el paciente falleció.

El tumor de células granulares del esófago es una neoplasia de tejidos blandos infrecuente. Se origina de las células de Schwann y su diagnóstico es histopatológico. Ocurre con más frecuencia en la piel, lengua, tejido subcutáneo y el músculo esquelético. Su localización en el tracto digestivo es poco frecuente, siendo el esófago el sitio más frecuentemente afectado. Se presenta después de la cuarta década de la vida, generalmente es benigno, asintomático, con masas menores a los 2 cm. Presentamos el caso de una paciente de 23 años de edad, sin antecedentes, con historia de masa de +/- 5 cm en cuello, a nivel de esófago, de 3 años de evolución.

Purpose Mutations in hereditary breast cancer genes play an important role in the risk for cancer. Methods Cancer susceptibility genes were sequenced in 664 unselected breast cancer cases from Guatemala. Variants were annotated with ClinVar and VarSome. Results A total of 73 out of 664 subjects (11%) had a pathogenic variant in a high or moderate penetrance gene. The most frequently mutated genes were BRCA1 (37/664, 5.6%) followed by BRCA2 (15/664, 2.3%), PALB2 (5/664, 0.8%), and TP53 (5/664, 0.8%). Pathogenic variants were also detected in the moderate penetrance genes ATM , BARD1 , CHEK2 , and MSH6 . The high ratio of BRCA1 / BRCA2 mutations is due to two potential founder mutations: BRCA1 c.212 + 1G > A splice mutation (15 cases) and BRCA1 c.799delT (9 cases). Cases with pathogenic mutations had a significantly earlier age at diagnosis (45 vs 51 years, P < 0.001), are more likely to have had diagnosis before menopause, and a higher percentage had a relative with any cancer (51% vs 37%, P = 0.038) or breast cancer (33% vs 15%, P < 0.001). Conclusions Hereditary breast cancer mutations were observed among Guatemalan women, and these women are more likely to have early age at diagnosis and family history of cancer. These data suggest the use of genetic testing in breast cancer patients and those at high risk as part of a strategy to reduce breast cancer mortality in Guatemala.

Objetivos: determinar la prevalencia de glomerulopatias en el departamento de nefrología y trasplante renal de adultos de Hospital General San Juan de Dios. Estratificar las glomerulopatías Material y métodos: estudio descriptivo, retrospectivo, transversal realizado en 190 pacientes adultos a quienes se les realizó biopsia renal percutánea (BRP) de riñón nativo de enero de 2017 a julio de 2021, en el departamento de nefrología y trasplante de adultos del Hospital General San Juan de Dios, se determinaron características demográficas y diagnósticos de glomerulopatias primarias y secundarias, obtenidos de los registros de biopsia del departamento de nefrología y de patología. Resultados: del total de pacientes, 28.9% presentaron glomeruloesclerosis focal y segmentaria (GEFyS), siendo la glomerulopatía más común en este centro, seguida por nefritis lúpica (NL) con un 16.9% de la cual la NL clase IV es la más frecuente con 56.2%; la tercera más común es enfermedad de cambios mínimos (ECM) con 14.7%, suponiendo estás tres un 60.5% del total de glomerulopatías diagnosticadas. El género predominante fue el femenino con un 62.1% y el rango de edad donde se presentaron la mayoría de glomerulopatías fue el de menores de 30 años, con un 52.6%. Conclusiones: La GEFyS fue la glomerulopatía más frecuente.Las características demográficas que prevalecieron en los pacientes fueron: sexo femenino y rango de edad menor de 30 años.