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1.
Genes Chromosomes Cancer ; 62(7): 430-436, 2023 07.
Article in English | MEDLINE | ID: mdl-37057803

ABSTRACT

Rhabdomyosarcomas (RMS) are malignant mesenchymal tumors with skeletal muscle differentiation which are classified into alveolar, embryonal, pleomorphic, and spindle cell/sclerosing RMS. Within the spindle cell/sclerosing RMS tumor type there is a recently recognized sub-type categorized as intraosseous spindle cell RMS with TFCP2/NCOA2 gene fusion. This rare tumor is highly aggressive with predominant involvement of the craniofacial and pelvic bones with approximately 30 cases reported to date. Histopathologic features include spindle cell and epithelioid morphology with a characteristic co-expression of epithelial markers, myogenic markers, and ALK1 expression. We report two cases of gnathic spindle cell/sclerosing RMS with FUS::TFCP2 gene fusion that were initially interpreted as carcinomas by referring institutions and later reclassified when encountered in our practice after additional work-up and molecular characterization.


Subject(s)
Carcinoma , Rhabdomyosarcoma, Embryonal , Rhabdomyosarcoma , Adult , Humans , Child , Rhabdomyosarcoma/diagnosis , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma/pathology , Gene Fusion , DNA-Binding Proteins/genetics , Transcription Factors/genetics , RNA-Binding Protein FUS/genetics
2.
Mod Pathol ; 31(4): 674-684, 2018 04.
Article in English | MEDLINE | ID: mdl-29192652

ABSTRACT

High-grade endometrial stromal sarcoma likely encompasses underrecognized tumors harboring genetic abnormalities besides YWHAE-NUTM2 fusion. Triggered by three initial endometrial stromal sarcomas with ZC3H7B-BCOR fusion characterized by high-grade morphology and aggressive clinical behavior, we herein investigate the clinicopathologic features of this genetic subset by expanding the analysis to 17 such tumors. All of them occurred in adult women with a median age of 54 (range, 28-71) years. They were predominantly based in the endomyometrium and demonstrated tongue-like and/or pushing myometrial invasion. Most were uniformly cellular and displayed haphazard fascicles of spindle cells with mild to moderate nuclear atypia. Myxoid matrix was seen in 14 of 17 (82%) tumors, and collagen plaques were seen in 8 (47%). The mitotic index was ≥10 mitotic figures/10 high-power fields (HPFs) in 14 of 17 (82%) tumors with a median of 14.5 mitotic figures/10 HPFs. No foci of conventional or variant low-grade endometrial stromal sarcoma were seen. All tumors expressed CD10 with only limited or absent desmin, SMA and/or h-caldesmon staining. ER and PR expression in >5% of cells was seen in 4 of 12 (33%) tumors. Diffuse cyclin D1 and BCOR immunoreactivity was present in 7 of 8 (88%) and 7 of 14 (50%) tumors, respectively. Fluorescence in situ hybridization or targeted RNA sequencing confirmed ZC3H7B-BCOR fusion in all tumors, including four and two previously diagnosed as myxoid leiomyosarcoma and undifferentiated uterine sarcoma, respectively. Limited clinical data suggest that patients present at higher stage and have worse prognosis compared with published outcomes in low-grade endometrial stromal sarcoma. Tumors with ZC3H7B-BCOR fusion constitute a distinct group of endometrial stromal sarcomas with high-grade morphology that should be distinguished from other uterine mesenchymal neoplasms that may demonstrate myxoid morphology.


Subject(s)
Endometrial Neoplasms/pathology , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins/genetics , RNA-Binding Proteins/genetics , Repressor Proteins/genetics , Sarcoma, Endometrial Stromal/pathology , Adult , Aged , Endometrial Neoplasms/genetics , Female , Humans , Middle Aged , Sarcoma, Endometrial Stromal/genetics
3.
Mod Pathol ; 30(9): 1251-1261, 2017 09.
Article in English | MEDLINE | ID: mdl-28621321

ABSTRACT

Recognition of high-grade endometrial stromal sarcoma is important because of its aggressive clinical behavior. Morphologic features of YWHAE-NUTM2 high-grade endometrial stromal sarcoma may overlap with other uterine sarcoma types. BCOR immunoexpression was studied in these tumors and their morphologic mimics to assess its diagnostic utility. BCOR immunohistochemical staining was performed on archival tissue from 28 high-grade endometrial stromal sarcomas with classic morphology (20 YWHAE-NUTM2, 5 ZC3H7B-BCOR, 3 BCOR-ZC3H7B), 3 high-grade endometrial stromal sarcomas with unusual morphology and unknown gene rearrangement status, 66 low-grade endometrial stromal sarcomas, 21 endometrial stromal nodules, 38 uterine leiomyosarcomas, and 19 uterine leiomyomas. Intensity of nuclear staining and percentage of positive tumor cells were recorded. Strong diffuse nuclear BCOR staining (defined as >95% of tumor cells) was seen in the round cell component of all 20 (100%) classic YWHAE-NUTM2 high-grade endometrial stromal sarcomas and the 3 unusual high-grade endometrial stromal sarcomas which prompted FISH studies confirming YWHAE rearrangement in 2 tumors. Genomic PCR confirmed the presence of BCOR exon 16 internal tandem duplication in the third case. Diffuse BCOR staining was strong in three and weak in one BCOR-rearranged high-grade endometrial stromal sarcoma while absent in the remaining four BCOR-rearranged tumors. BCOR staining was weakly positive in <5% of tumor cells in 4 of 66 (6%) low-grade endometrial stromal sarcomas and 1 of 18 (6%) endometrial stromal nodules and weakly to moderately positive in <5-40% of tumor cells in 6 of 31 (19%) leiomyosarcomas. No BCOR staining was seen in the remaining low-grade endometrial stromal sarcomas, endometrial stromal nodules, leiomyosarcomas, or any of the leiomyomas. BCOR immunohistochemical staining is a highly sensitive marker for YWHAE-NUTM2 high-grade endometrial stromal sarcoma with both classic and unusual morphology and identifies a subset of high-grade endometrial stromal sarcoma with BCOR alterations, including BCOR rearrangement and internal tandem duplication.


Subject(s)
Biomarkers, Tumor/analysis , Endometrial Neoplasms/chemistry , Immunohistochemistry , Proto-Oncogene Proteins/analysis , Repressor Proteins/analysis , Sarcoma, Endometrial Stromal/chemistry , 14-3-3 Proteins/genetics , Biomarkers, Tumor/genetics , Endometrial Neoplasms/genetics , Endometrial Neoplasms/pathology , Female , Gene Duplication , Gene Rearrangement , Genetic Predisposition to Disease , Humans , In Situ Hybridization, Fluorescence , Neoplasm Grading , Phenotype , Polymerase Chain Reaction , Predictive Value of Tests , Proto-Oncogene Proteins/genetics , Repressor Proteins/genetics , Sarcoma, Endometrial Stromal/genetics , Sarcoma, Endometrial Stromal/pathology
4.
Int J Surg Pathol ; : 10668969241239679, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38562049

ABSTRACT

Glioblastoma, IDH-wildtype (GBM) is a high-grade astrocytic glioma that accounts for the majority of malignant brain tumors in adults. Within this entity, epithelioid GBM represents a histological subtype characterized by a loosely cohesive aggregate of large cells with abundant cytoplasm, and vesicular nuclei that usually harbors the BRAF V600E mutation. Molecular alterations in GBMs are frequent and play an important role in the diagnosis of this entity. Among the many genetic alterations reported, NTRK fusions are rare and account for <2% of gliomas. Furthermore, NTRK2 fusions are most seen in pediatric populations. Recent approval of the TRK inhibitor larotrectinib by the Food and Drug Administration (FDA) has brought interest in the study and recognition of NTRK fusions in multiple types of tumors. Trials that assess the response to this drug in cancers carrying NTRK fusions have yielded favorable results. We discuss a rare presentation of an adult-type GBM with epithelioid morphology and a BCR::NTRK2 gene fusion.

5.
Rev Gastroenterol Peru ; 33(1): 66-74, 2013.
Article in Spanish | MEDLINE | ID: mdl-23539059

ABSTRACT

Ohashi described for the first time the IPMN on 1982 as a pancreatic neoplasia with mucine cells forming papillae and producing dilatation of the main pancreatic duct or its branches. The IPMN represent the 1% of the pancreatic tumors and 5% of the cystic neoplasias. It is potentially malignant in a period of five years being more frequent in males between 60-70 and clinically these patients' presents as acute, recurrent or chronic pancreatitis, with an incidence of malignancy from 25% to 70%. CT scan and cholangio MRI allows the diagnosis, the variety, localization and possibility of determine malignancy. The treatment is the Whipple resection. We are reporting the case of an obese middle age male, being observed along the last 10 years because of recurrent pancreatitis with a cystic lesion of the head of the pancreas. The CT scan, endoscopic-ultrasound and the analysis of the liquid content suggested a mucinous lesion, reason why the patient underwent a pancreatic-duodenal resection. The histology study confirms the diagnosis of IPMN.


Subject(s)
Adenocarcinoma, Mucinous/complications , Carcinoma, Pancreatic Ductal/complications , Pancreatic Neoplasms/complications , Pancreatitis/complications , Humans , Male , Middle Aged , Recurrence
6.
Int J Surg Pathol ; : 10668969231195043, 2023 Sep 16.
Article in English | MEDLINE | ID: mdl-37715645

ABSTRACT

We present a case report of a 54-year-old male with a metastatic testicular sex cord tumor harboring a EWSR1::ATF1 gene fusion. The tumor displayed a solid and nested architecture with sclerotic stroma and variable inflammatory infiltrate, and was positive for SF-1, inhibin, EMA, CD30, and WT1 expression. Further genetic analysis identified a EWSR1::ATF1 gene fusion. Overall findings were consistent with an "inflammatory and nested testicular sex cord tumor," a recently described testicular neoplasm characterized by EWSR1::ATF1 gene fusion and aggressive clinical behavior. Due to the aggressive nature of this entity and the limited response to current treatment options available, identification of potential biomarkers for early diagnosis and targeted therapies are critical. This case report provides important insights into the genomic landscape of testicular sex cord-stromal tumors, especially within the CTNNB1-negative subset of patients with an aggressive clinical course, and further supports the distinction of "inflammatory and nested testicular sex cord tumor" as a separate entity from Sertoli cell tumors due to its characteristic morphological, immunohistochemical and molecular, features and clinical behavior.

7.
Urol Oncol ; 40(12): 525-536, 2022 12.
Article in English | MEDLINE | ID: mdl-34116936

ABSTRACT

Collecting duct carcinoma of the kidney is a rare and aggressive subtype of renal cell carcinoma (RCC) arising from the distal convoluted tubules. At the time of diagnosis, patients are more frequently symptomatic, with advanced locoregional stage, and have metastatic disease. The 2016 WHO Classification of Tumours of the Urinary System defined diagnostic criteria for this entity. However, the diagnostic features continue to evolve, with typical, but not entirely specific, histologic and immunophenotypic characteristics. In addition, the lack of consistent molecular alterations makes collecting duct carcinoma a diagnosis of exclusion, with historical cases being re-classified as fumarate hydratase deficient RCC, ALK rearranged RCC, renal medullary carcinoma or high-grade urothelial carcinoma. The rarity and poor prognosis of the tumor makes it difficult to reach consensus guidelines to guide therapy. In this manuscript we review the clinicopathologic features of collecting duct carcinoma including pathologic diagnostic criteria, molecular characteristics and differential diagnosis, and their possible implications for management.


Subject(s)
Carcinoma, Renal Cell , Carcinoma, Transitional Cell , Kidney Neoplasms , Urinary Bladder Neoplasms , Humans , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/therapy , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/therapy , Kidney/pathology
8.
Front Med (Lausanne) ; 9: 1006038, 2022.
Article in English | MEDLINE | ID: mdl-36465901

ABSTRACT

Background: Replacement of cytology screening with HPV testing is recommended and essential for cervical cancer elimination. HPV testing for primary screening was implemented in 12 laboratories within 9 Latin American countries, as part of the ESTAMPA cervical cancer screening study. Our observations provide information on critical operational aspects for HPV testing implementation in diverse resource settings. Methods: We describe the implementation process of HPV testing in ESTAMPA, focusing on laboratory aspects. We assess the readiness of 12 laboratories to start HPV testing and their continuity capacity to maintain good quality HPV testing until end of recruitment or up to December 2021. Readiness was based on a checklist. Information from the study database; regular meetings and monitoring visits; and a questionnaire on laboratory operational aspects sent in May 2020 were used to assess continuity capacity. Compliance with seven basic requirements (readiness) and eight continuity requirements (continuity capacity) was scored (1 = compliant, 0 = not compliant) and totaled to classify readiness and continuity capacity as very limited, limited, moderate or high. Experiences, challenges, and enablers of the implementation process are also described. Results: Seven of 12 laboratories had high readiness, three moderate readiness, and of two laboratories new to HPV testing, one had limited readiness and the other very limited readiness. Two of seven laboratories with high readiness also showed high continuity capacity, one moderate continuity capacity, and the other four showed limited continuity capacity since they could not maintain good quality HPV testing over time. Among three laboratories with moderate readiness, one kept moderate continuity capacity and two reached high continuity capacity. The two laboratories new to HPV testing achieved high continuity capacity. Based on gained expertise, five laboratories have become part of national screening programs. Conclusion: High readiness of laboratories is an essential part of effective implementation of HPV testing. However, high readiness is insufficient to guarantee HPV testing high continuity capacity, for which a "culture of quality" should be established with regular training, robust monitoring and quality assurance systems tailored to local context. All efforts to strengthen HPV laboratories are valuable and crucial to guarantee effective implementation of HPV-based cervical screening.

9.
Int J Gynecol Pathol ; 29(2): 185-8, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20173505

ABSTRACT

We report for the first time a case of 2.5 cm polypoid cervical endometriosis with a superficial growth pattern in a 48-year-old patient with past tubal ligation. The lesion showed metaplastic changes (clear cell, eosinophilic, micropapillary) and a prominent Arias Stella reaction in the absence of concomitant pregnancy but presumably related to phytoestrogenic treatment. The eutopic endometrium, however, had a usual proliferative appearance, implying that it showed a different response from the endometriotic tissues, suggesting the possibility of a metaplastic origin for the endocervical polypoid endometriosis. The unusual histology of the lesion led to an erroneous diagnosis of papillary serous carcinoma in the biopsy. This was subsequently excluded on finding endometrial-type stroma surrounding glands, and was confirmed immunohistochemically by a low Ki-67 index and negativity for p53.


Subject(s)
Endometriosis/pathology , Phytoestrogens/administration & dosage , Uterine Cervical Diseases/pathology , Uterine Cervical Neoplasms/diagnosis , Diagnosis, Differential , Endometriosis/diagnosis , Endometriosis/surgery , Female , Histocytochemistry , Humans , Middle Aged , Uterine Cervical Diseases/diagnosis , Uterine Cervical Diseases/surgery , Uterine Cervical Neoplasms/pathology , Uterine Cervical Neoplasms/surgery
10.
BMJ Open ; 10(5): e035796, 2020 05 24.
Article in English | MEDLINE | ID: mdl-32448795

ABSTRACT

INTRODUCTION: Human papillomavirus (HPV) testing is replacing cytology in primary screening. Its limited specificity demands using a second (triage) test to better identify women at high-risk of cervical disease. Cytology represents the immediate triage but its low sensitivity might hamper HPV testing sensitivity, particularly in low-income and middle-income countries (LMICs), where cytology performance has been suboptimal. The ESTAMPA (EStudio multicéntrico de TAMizaje y triaje de cáncer de cuello uterino con pruebas del virus del PApiloma humano; Spanish acronym) study will: (1) evaluate the performance of different triage techniques to detect cervical precancer and (2) inform on how to implement HPV-based screening programmes in LMIC. METHODS AND ANALYSIS: Women aged 30-64 years are screened with HPV testing and Pap across 12 study centres in Latin America. Screened positives have colposcopy with biopsy and treatment of lesions. Women with no evident disease are recalled 18 months later for another HPV test; those HPV-positive undergo colposcopy with biopsy and treatment as needed. Biological specimens are collected in different visits for triage testing, which is not used for clinical management. The study outcome is histological high-grade squamous intraepithelial or worse lesions (HSIL+) under the lower anogenital squamous terminology. About 50 000 women will be screened and 500 HSIL+ cases detected (at initial and 18 months screening). Performance measures (sensitivity, specificity and predictive values) of triage techniques to detect HSIL+ will be estimated and compared with adjustment by age and study centre. ETHICS AND DISSEMINATION: The study protocol has been approved by the Ethics Committee of the International Agency for Research on Cancer (IARC), of the Pan American Health Organisation (PAHO) and by those in each participating centre. A Data and Safety Monitoring Board (DSMB) has been established to monitor progress of the study, assure participant safety, advice on scientific conduct and analysis and suggest protocol improvements. Study findings will be published in peer-reviewed journals and presented at scientific meetings. TRIAL REGISTRATION NUMBER: NCT01881659.


Subject(s)
Alphapapillomavirus/isolation & purification , Early Detection of Cancer , Papillomavirus Infections/diagnosis , Triage , Uterine Cervical Dysplasia/diagnosis , Adult , Colposcopy , Female , Humans , Latin America , Middle Aged , Uterine Cervical Neoplasms/diagnosis
11.
J Mol Diagn ; 21(2): 307-317, 2019 03.
Article in English | MEDLINE | ID: mdl-30576871

ABSTRACT

Genomic amplification at 9p24.1, including the loci for JAK2, PD-L1, and PD-L2, has recently been described as a mechanism of resistance in postchemotherapy, triple-negative breast cancer. This genomic signature holds significant promise as a prognostic biomarker and has implications for targeted therapy with JAK2 inhibitors, as well as with immunotherapy. To guide future screening strategies, the frequency of these alterations was determined. A total of 5399 cases were included in the study. This encompassed 2890 institutional cases tested by the Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets assay and 2509 cases from The Cancer Genome Atlas (TCGA). The combined incidence of 9p24.1 amplifications in both the Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets and TCGA cohorts was 1.0% (56/5399 cases) and showed a >10-fold higher incidence in triple-negative breast cancer (triple-negative: 5.1%; non-triple-negative: 0.5%). Tumor mutation burden and stromal tumor infiltrating lymphocytes, parameters used to assess response to immunotherapy, were not significantly higher for these cases. The significance of genomic losses at 9p24.1 is unclear, and further studies are needed. Herein, we studied the spectrum of copy number alterations in breast cancer cases within our institutional clinical sequencing cohort and those profiled by TCGA to determine the frequency of genomic alterations that may predict response or resistance to JAK2 inhibitors and/or immunotherapy.


Subject(s)
B7-H1 Antigen/genetics , Biomarkers, Tumor/genetics , DNA Copy Number Variations/genetics , High-Throughput Nucleotide Sequencing/methods , Janus Kinase 2/genetics , Programmed Cell Death 1 Ligand 2 Protein/genetics , Triple Negative Breast Neoplasms/genetics , Female , Gene Expression Regulation, Neoplastic , Humans , Microsatellite Instability , Receptor, ErbB-2/genetics
12.
Am J Surg Pathol ; 43(3): 382-388, 2019 03.
Article in English | MEDLINE | ID: mdl-30489320

ABSTRACT

Genetic alterations in uterine myxoid leiomyosarcoma are unknown. We investigate the clinicopathologic features of 19 uterine tumors previously diagnosed as myxoid leiomyosarcomas in which tumoral RNA was subjected to targeted RNA sequencing. PLAG1, BCOR, BCORL1, HMGA2, and ALK break-apart fluorescence in situ hybridization (FISH) and BCOR, PLAG1, and ALK immunohistochemistry were performed in cases which failed or lacked fusions by sequencing. The diagnosis of myxoid leiomyosarcoma was confirmed in 15 cases after exclusion of 4 tumors with BCOR and ALK rearrangements. These 15 patients presented at a median age of 50 years with stage I (3), II (2), III (2), and IV (1) tumors, respectively; stage was unknown in 7 cases. Tumor size ranged from 10 to 24 cm. Matrix was myxoid in all tumors and also eosinophilic in 2. Cells were spindled, epithelioid, and both in 10, 2, and 3 tumors and showed mild, moderate, and severe nuclear atypia in 3, 8, and 4 tumors, respectively. Mitotic index ranged from <1 to 14/10 HPF, while tumor necrosis was present in 6 (40%). Novel TRPS1-PLAG1 or RAD51B-PLAG1 fusions were detected by sequencing in 4 tumors, 3 of which were also confirmed by FISH. Diffuse PLAG1 expression was seen in 7 tumors, including 4 with PLAG1 rearrangement. No morphologic differences were seen among PLAG1 fusion-positive and fusion-negative tumors. No PLAG1, HMGA2, ALK, BCOR, or BCORL1 rearrangements were detected by FISH in 11 tumors. On the basis of sequencing and FISH results, PLAG1 rearrangements resulting in PLAG1 expression underpin ~25% of myxoid leiomyosarcomas and may serve as a useful diagnostic biomarker. Immunohistochemistry, targeted RNA sequencing, and/or FISH may distinguish myxoid leiomyosarcoma from its morphologic mimics.


Subject(s)
DNA-Binding Proteins/genetics , Leiomyosarcoma/genetics , Uterine Neoplasms/genetics , Adult , Aged , Biomarkers, Tumor/genetics , Diagnosis, Differential , Female , Gene Rearrangement , Humans , Leiomyosarcoma/diagnosis , Middle Aged , Uterine Neoplasms/diagnosis
13.
Hum Pathol ; 88: 87-91, 2019 06.
Article in English | MEDLINE | ID: mdl-30236595

ABSTRACT

As immune checkpoint inhibitors are rapidly developing into the standard of care for patients with advanced melanoma, the value of diagnostic metrics to predict response to immunotherapy is steadily increasing. Next-generation sequencing-based parameters include tumor mutation burden (TMB) and genomic amplification of PD-L1/PD-L2/JAK2 at 9p24.1. At present, there are limited studies documenting response to checkpoint blockade in 9p24.1-amplified solid tumors. Herein, we have compared a cutaneous melanoma with a mucosal melanoma, both with 9p24.1 amplifications and durable response to immunotherapy. Although the cutaneous melanoma had a high TMB, the mucosal melanoma had a lower TMB compared with the mean TMB for all melanomas within the institutional clinical sequencing cohort. In summary, PD-L1/PD-L2/JAK2 amplification was associated with durable response to therapy for both cases, and this genomic signature is a potential valuable metric in predicting response to immunotherapy.


Subject(s)
B7-H1 Antigen/genetics , Gene Amplification , Immunotherapy , Janus Kinase 2/genetics , Melanoma/genetics , Programmed Cell Death 1 Ligand 2 Protein/genetics , Aged , Aged, 80 and over , Female , Humans , Male , Melanoma/pathology , Melanoma/therapy , Mucous Membrane/pathology , Neoplasm Metastasis/genetics , Neoplasm Metastasis/pathology , Neoplasm Metastasis/therapy , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Skin Neoplasms/therapy , Treatment Outcome
14.
Circulation ; 115(9): 1132-46, 2007 Mar 06.
Article in English | MEDLINE | ID: mdl-17339571

ABSTRACT

More than 140 million people worldwide live >2500 m above sea level. Of them, 80 million live in Asia, and 35 million live in the Andean mountains. This latter region has its major population density living above 3500 m. The primary objective of the present study is to review the physiology, pathology, pathogenesis, and clinical features of the heart and pulmonary circulation in healthy highlanders and patients with chronic mountain sickness. A systematic review of worldwide literature was undertaken, beginning with the pioneering work done in the Andes several decades ago. Original articles were analyzed in most cases and English abstracts or translations of articles written in Chinese were reviewed. Pulmonary hypertension in healthy highlanders is related to a delayed postnatal remodeling of the distal pulmonary arterial branches. The magnitude of pulmonary hypertension increases with the altitude level and the degree of exercise. There is reversal of pulmonary hypertension after prolonged residence at sea level. Chronic mountain sickness develops when the capacity for altitude adaptation is lost. These patients have moderate to severe pulmonary hypertension with accentuated hypoxemia and exaggerated polycythemia. The clinical picture of chronic mountain sickness differs from subacute mountain sickness and resembles other chronic altitude diseases described in China and Kyrgyzstan. The heart and pulmonary circulation in healthy highlanders have distinct features in comparison with residents at sea level. Chronic mountain sickness is a public health problem in the Andean mountains and other mountainous regions around the world. Therefore, dissemination of preventive and therapeutic measures is essential.


Subject(s)
Adaptation, Physiological , Altitude Sickness/physiopathology , Altitude , Hypertension, Pulmonary/physiopathology , Pulmonary Circulation/physiology , Adolescent , Adult , Aged , Aged, 80 and over , Altitude Sickness/diagnosis , Altitude Sickness/pathology , Altitude Sickness/veterinary , Animals , Cardiac Catheterization , Cardiac Output , Cattle , Cattle Diseases/physiopathology , Child , Child, Preschool , China/epidemiology , Chronic Disease , Diagnosis, Differential , Exercise , Female , Heart Ventricles/growth & development , Humans , Hypertrophy, Right Ventricular/drug therapy , Hypertrophy, Right Ventricular/etiology , Hypertrophy, Right Ventricular/physiopathology , Hypertrophy, Right Ventricular/prevention & control , Hypoxia/etiology , Hypoxia/physiopathology , Infant , Infant, Newborn , Latin America/epidemiology , Male , Middle Aged , Muscle, Smooth, Vascular/physiopathology , Polycythemia/etiology , Polycythemia/physiopathology , Pulmonary Artery/growth & development , Pulmonary Artery/physiology , Pulmonary Heart Disease/etiology , Vasodilator Agents/therapeutic use , Ventricular Function
15.
Arch Pathol Lab Med ; 142(1): 64-69, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28967804

ABSTRACT

CONTEXT: - Urinary bladder flat carcinoma in situ (CIS) is a worrisome lesion, requiring aggressive surveillance and treatment. Cytokeratin 20 (CK20) and p53 are common immunohistochemical antibodies used to supplement CIS diagnosis in biopsy samples. However, existing data come primarily from unequivocally benign and malignant specimens. OBJECTIVE: - To correlate these markers in specimens with borderline histology with outcomes. DESIGN: - CK20 and p53 immunohistochemistry was analyzed for staining pattern, classified as CIS pattern (both stains yielding strong labeling of the area of concern), discordant (only 1 stain yielding CIS pattern), indeterminate (1 or both stains yielding partial or equivocal labeling), or benign (both stains yielding a benign pattern). RESULTS: - Specimens with equivocal atypia (n = 69) from 65 patients were studied. There were 9 specimens (13%) that had a CIS staining pattern, 18 (26%) were discordant, 31 (45%) were indeterminate, and 11 (16%) were benign. Of the discordant specimens, 13 labeled for CK20 but not p53, whereas 5 showed the opposite. Most specimens (n = 47; 68%) were obtained from patients with a known history of bladder cancer, of which recurrence developed in 27, with an average interval of 37 months (range, 2-216 months). A subset (n = 22; 34%) had no prior history of bladder cancer, from which only 1 patient with CK20-positive/p53-equivocal staining later developed diagnostic carcinoma. CONCLUSIONS: - In our cohort of specimens with equivocal urothelial atypia, very few patients without a prior diagnosis of bladder cancer progressed to diagnostic cancer (1 of 22), suggesting that staining results should be interpreted with caution in de novo atypia. Patients with a known history of bladder cancer had a substantial rate of recurrence, independent of staining pattern.


Subject(s)
Carcinoma in Situ/metabolism , Carcinoma in Situ/pathology , Tumor Suppressor Protein p53/metabolism , Urinary Bladder Neoplasms/metabolism , Urinary Bladder Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Carcinoma, Transitional Cell/metabolism , Carcinoma, Transitional Cell/pathology , Cohort Studies , Disease Progression , Female , Humans , Immunohistochemistry , Keratin-20/metabolism , Male , Middle Aged , Neoplasm Recurrence, Local/metabolism , Neoplasm Recurrence, Local/pathology
16.
Acta Gastroenterol Latinoam ; 36(3): 139-46, 2006 Sep.
Article in English | MEDLINE | ID: mdl-17407990

ABSTRACT

AIM: To determine the prevalence of peptic ulcer and gastric adenocarcinoma in a population of middle and high socio-economic status in Lima, Peru, between 1985 and 2002. MATERIAL AND METHODS: The prevalence of gastroduodenal ulcer and gastric adenocarcinoma was determined after studying by esophagogastroduodenoscopy 31,446 patients at the Policlínico Peruano Japonds (PPJ) between 1985 and 2002. All patients had chronic upper gastrointestinal symptoms and had endoscopically proven diagnosis of active peptic ulcer or histological diagnosis of gastric adenocarcinoma. RESULTS: Analysis of PPJ population identified a decrease in the prevalence of gastric ulcer and duodenal ulcer from 3.15% and 5.05% respectively in 1985, to 1.62% and 2.00% respectively in 2002. Gastric adenocarcinoma prevalence also decreased from 3.19% in 1988 to 0.92% in 2002. The prevalences of gastric ulcer (OR = 1.49, 95% IC 1.26-1.77, p < 0.001), duodenal ulcer (OR = 1.32, 95% IC 1.15-1.51, p < 0.001) and gastric adenocarcinoma (OR = 1.53, 95% IC 1.25-1.86, p < 0.001), decreased in the last eight years. CONCLUSIONS: Over the study period, there was a significant decrease in the prevalence of peptic ulcer and gastric adenocarcinoma at the Policlinico Peruano Japonés, where patients from middle and high socio economic status are attended.


Subject(s)
Adenocarcinoma/epidemiology , Peptic Ulcer/epidemiology , Stomach Neoplasms/epidemiology , Adenocarcinoma/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Cross-Sectional Studies , Duodenal Ulcer/epidemiology , Endoscopy, Digestive System , Female , Humans , Male , Middle Aged , Peptic Ulcer/diagnosis , Peru/epidemiology , Prevalence , Sex Distribution , Social Class , Stomach Neoplasms/diagnosis , Stomach Ulcer/diagnosis , Stomach Ulcer/epidemiology
17.
Clin Case Rep ; 4(1): 67-71, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26783439

ABSTRACT

A 24-year-old male presented with abdominal pain, fever, and palpable splenomegaly. His differential count revealed myelocytes, metamyelocytes, and nucleated red cells. A bone marrow biopsy confirmed a diagnosis of hepatosplenic gamma delta T-cell leukemia/lymphoma. We describe here our center's diagnostic and treatment approach for this rare leukemia.

18.
J Investig Med High Impact Case Rep ; 4(3): 2324709616663233, 2016.
Article in English | MEDLINE | ID: mdl-27606325

ABSTRACT

Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. Osteosclerosis of long bones, often associated with bone pain, is the most common initial manifestation, followed by extraskeletal manifestations in approximately 50% of cases. There is no standard treatment for ECD, although recommendations have been made on the basis of small studies. A systematic approach to the diagnosis of ECD is important, because its manifestations may be life-threatening and may require specific management. We report an atypical presentation of ECD, with early cardiac, renal, and central nervous system involvement, and only late skeletal manifestations.

19.
Acta Gastroenterol Latinoam ; 35(4): 219-24, 2005.
Article in Spanish | MEDLINE | ID: mdl-16496853

ABSTRACT

OBJECTIVE: To compare the prevalence of Helicobacter pylori infection in native Peruvians and Japaneses residing in Peru. METHODS: Prospective study carried out at "Policlinico Peruano-Japonés" (Lima-Perú). We included Peruvians and Japaneses residing in Peru with chronic symptoms of the upper gastrointestinal tract. Both groups were from medium to high socioeconomic status. We excluded patients with peptic ulcer. PCR, rapid ureasa test and IgG ELISA were used to diagnose the infection. RESULTS: We evaluated 168 Japaneses (mean age 54.6 +/- 12.62 years, 75% female), and 161 Peruvians (mean age of 42.12 +/- 14.48 years, 61.5% female). Using the rapid ureasa test, the prevalence of Helicobacter pylori infection in Peruvians was 47.8%, and in Japaneses 47.0% (p=0.88). Using PCR, in Peruvians was 49.7% and in Japaneses 43.5% (p=0.28). CONCLUSION: Peruvians and Japaneses residing in Peru have a similar prevalence of Helicobacter pylori infection, after controlling factors such as socioeconomic status and age, suggesting that in Peru and in these ethnic groups, there is no racial predisposition to acquire the infection.


Subject(s)
Gastritis/ethnology , Helicobacter Infections/ethnology , Helicobacter pylori , Adolescent , Adult , Aged , Female , Gastritis/diagnosis , Gastritis/microbiology , Helicobacter Infections/diagnosis , Helicobacter Infections/microbiology , Humans , Japan/ethnology , Male , Middle Aged , Peru/epidemiology , Prevalence , Prospective Studies , Socioeconomic Factors
20.
Surg Pathol Clin ; 8(4): 755-87, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26612226

ABSTRACT

The genitourinary tract is a common site for new cancer diagnosis, particularly for men. Therefore, cancer-containing specimens are very common in surgical pathology practice. However, many benign neoplasms and nonneoplastic, reactive, and inflammatory processes in the genitourinary tract may mimic or cause differential diagnostic challenges with malignancies. Emerging clinicopathologic, immunohistochemical, and molecular characteristics have shed light on the pathogenesis and differential diagnosis of these lesions. This review addresses differential diagnostic challenges related to benign genitourinary tract lesions in the kidney, urinary bladder, prostate, and testis, with emphasis on recent advances in knowledge and areas most common in diagnostic practice.


Subject(s)
Female Urogenital Diseases/diagnosis , Male Urogenital Diseases/diagnosis , Diagnosis, Differential , Female , Female Urogenital Diseases/pathology , Humans , Male , Male Urogenital Diseases/pathology , Prognosis , Urogenital Neoplasms/diagnosis , Urogenital Neoplasms/pathology
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