Observational analysis of clinical and pathological characteristics and their prognostic impact in Mexican patients with breast cancer: A multi-center study.

Breast cancer is the most incidental and deadly neoplasm worldwide; in Mexico, very few epidemiologic reports have analyzed the pathological features and its impact on their clinical outcome. Here, we studied the relation between pathological features and the clinical presentation at diagnosis and their impact on the overall and progression-free survival of patients with breast cancer. For this purpose, we collected 199 clinical records of female patients, aged at least 18 years old (y/o), with breast cancer diagnosis confirmed by biopsy. We excluded patients with incomplete or conflicting clinical records. Afterward, we performed an analysis of overall and progression-free survival and associated risks. Our results showed an average age at diagnosis of 52 y/o (24-85), the most common features were: upper outer quadrant tumor (32%), invasive ductal carcinoma (76.8%), moderately differentiated (44.3%), early clinical stages (40.8%), asymptomatic patients (47.8%), luminal A subtype (47.8%). Median overall survival was not reached, but median progression-free survival was 32.2 months (29.75-34.64, CI 95%) associated risk were: clinical stage (p < 0.0001) symptomatic presentation (p = 0.009) and histologic grade (p = 0.02). Therefore, we concluded that symptom presence at diagnosis impacts progression-free survival, and palpable symptoms are related to an increased risk for mortality.

Single organ microenvironment and the common features of tumors of leukemia, lymphoma, and myeloma cells growing there: A literature review.

OBJECTIVE: To explore whether the growth and treatment resistance of lymphoma and myeloma tumors is similar to that previously observed in leukemic and solid tumors growing in the same organ microenvironment. METHODS: All published cases of 3 primary hematologic malignancies in breast, without systemic involvement, were identified, with follow-ups solicited from authors. Treatment approaches were analyzed to highlight the most effective. RESULTS: Similar histologic features and biology among primary tumors of leukemia, lymphoma, plasmacytoma, and solid breast cancer was revealed. Review of treatments: tumor-directed, chemotherapy, or combination showed the benefit of tumor removal, and use of systemic agents in adjunct, not primary, treatment. Optimal assessment is limited by few cases of PET/CT verifying limited tumor extent. The common biology observed and cases of long survival after tumor/stroma eradication point to the complicity of organ microenvironment in the chemoresistance and treatment failure commonly observed in patients. CONCLUSIONS: The interaction of an organ microenvironment, particularly its adipocytes, with malignant cells, results in similar histologic changes, metastatic potential, and chemoresistance in 3 hematologic malignancies and solid cancers. Improved survival in hematologic malignancies could result from adopting PET/CT to find tumor and its extent, eradicating tumor, and elucidating common therapeutic targets.

Molecular Epidemiology of ALK Rearrangements in Advanced Lung Adenocarcinoma in Latin America.

OBJECTIVE: Latin American countries are heterogeneous in terms of lung cancer incidence and exposure to potential carcinogens. We evaluated the frequency and clinical characteristics of ALK rearrangements (ALKr) in Latin America. METHODS: A total of 5,130 lung cancer patients from 10 Latin American countries were screened for inclusion. ALKr detection was performed by fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), and real-time reverse transcriptase-polymerase chain reaction (RT-PCR) to assess method variability. Demographic and clinicopathologic characteristics were analyzed. RESULTS: Among the 5,130 patients screened, 8.4% (n = 433) had nonevaluable FISH tests. Evaluable FISH analyses revealed positive ALKr in 6.8% (320/4,697) of the study population, which included patients from 9 countries. ALKr distribution for each country was: Mexico 7.6% (79/1,034), Colombia 4.1% (10/242), Argentina 6.0% (153/2,534), Costa Rica 9.5% (13/137), Panama 4.4% (5/114), Uruguay 5.4% (2/37), Chile 8.6% (16/185), Venezuela 8.9% (13/146), and Peru 10.8% (29/268). RT-PCR showed high positive (83.6%) and negative (99.7%) predictive values when compared to the gold standard FISH. In contrast, IHC only showed a high negative predictive value (94.6%). CONCLUSIONS: Although there is a clear country and continental variability in terms of ALKr frequency, this difference is not significant and the overall incidence of ALKr in Latin America does not differ from the rest of the world.

Functional and Aesthetic Thorax Reconstruction after Desmoid Tumor Resection.

This study describes a case report of a 31-year-old patient who presented with a left thoracic tumor on costal cartilages 5 and 6 that was diagnosed as a desmoid tumor 3 years after receiving retropectoral breast implants for cosmetic reasons. The integral reconstruction of the thoracic wall, functional and aesthetic, was planned for a single surgical period. The defect secondary to the tumor resection, which left the pericardium and lung exposed, was closed using the pectoral muscle as a "pre-expanded" flap by the breast implant, and the breast aesthetic was treated bilaterally with new implants in the retromammary position. After 12 months, the patient remained free from tumor recurrence and had a satisfactory aesthetic result.

Pulmonary artery sarcoma with angiosarcoma phenotype mimicking pleomorphic malignant fibrous histiocytoma: a case report.

Primary sarcomas of the major blood vessels can be classified based on location in relationship to the wall or by histologic type. Angiosarcomas are malignant neoplasms that arise from the endothelial lining of the blood vessels; those arising in the intimal compartment of pulmonary artery are rare. We report a case of pulmonary artery angiosarcoma in a 36-year old female with pulmonary masses. The patient had no other primary malignant neoplasm, thus excluding a metastatic lesion. Gross examination revealed a thickened right pulmonary artery and a necrotic and hemorrhagic tumor, filling and occluding the vascular lumen. The mass extended distally, within the pulmonary vasculature of the right lung. Microscopically, an intravascular undifferentiated tumor was identified. The tumor cells showed expression for vascular markers VEGFR, VEGFR3, PDGFRa, FGF, Ulex europaeus, FVIII, FLI-1, CD31 and CD34; p53 was overexpressed and Ki67 proliferative rate was increased. Intravascular angiosarcomas are aggressive neoplasms, often associated with poor outcome.

Urinary bladder paraganglioma in childhood: a case report and review of the literature.

Bladder paraganglioma (BP) is a rare entity and is exceedingly uncommon in childhood. Pheochromocytomas/paragangliomas are components of several hereditary cancer syndromes, and up to 30% may be associated with germ-line mutations of genes, including VHL, RET, and SDH. We present a 16-year-old female who was admitted with macroscopic hematuria and anemia. A cystoscopy demonstrated a polypoid and hemorrhagic mass arising from the floor of the bladder. She underwent a transurethral resection of clinically suspected urothelial papilloma. A histologic examination of the tumor showed large polygonal cells with eosinophilic cytoplasm, arranged in a zellballen pattern, surrounded by a fibrous network. Immunohistochemical studies showed a strong expression of neuroendocrine markers and lack of reactivity for epithelial markers. The diagnosis of BP was established; eight months later, a recurrence was observed and the patient underwent a partial cystectomy. Our case represents the 1st BP in childhood reported in the literature with absent SDHB staining by immunohistochemistry. We discuss the clinical and pathologic findings and present a review of BP in childhood.

Basal cell carcinoma of the prostate gland: a case report and brief review of the basal cell proliferations of the prostate gland.

Basal cell proliferations within the prostate gland encompass a group of benign and malignant entities. Although basal cell hyperplasia is a common finding, basal cell carcinoma of the prostate gland is a rare tumor that can be mistaken by a benign condition and represents a diagnostic problem in genitourinary pathology. We report a case of basal cell carcinoma in a previously healthy 65-year-old man with urinary symptoms and low prostate-specific antigen. The microscopic findings are presented and the use of immunohistochemical markers classifying basal cell lesions of the prostate discussed.

p16INK4a expression in basal-like breast carcinoma.

BLBC represents a distinctive group of invasive breast carcinomas with specific genotype and immunoprofile. BLBC is usually defined by gene expression profiling and is currently associated with poor outcome. BLBCs are estrogen receptor (ER) negative, progesterone receptor (PgR) negative, HER2 negative, and usually show a variable expression of basal cytokeratins (CKs), EGFR and CD117. p16(INK4a) is a tumor suppressor protein, encoded by the CDKN2A gene, which regulates cell cycle. The reported association of abnormalities in the p16/Rb pathway with increased risk of malignancy prompted us to determine the expression of p16(INK4a) in a group of BLBC; the results were compared with a group of high-grade invasive carcinoma (HG-IC) of breast. Tissue microarrays (TMA) were constructed in triplicate including 18 BLBC and 18 HG-IC. All BLBC cases were ER-/PgR-/HER2-. Seventeen (94%) BLBC were CK 5/6+/CK 14+; 14 (78%) BLCB showed EGFR expression and 13 (72%) were CD117 positive. BLBCs showed a strong positive reaction with p16(INK4a) antibody in 16 of 18 (89%) cases. Although the significance of p16(INK4a) expression in breast cancer is not fully understood, we have shown that p16(INK4a) is strongly expressed in breast cancers with basal-like phenotype. Since it is known that p16(INK4a) is associated with aggressive behavior in human carcinomas, these data suggest that p16(INK4a) play a role in the poor prognosis of BLBC.

Identification of human papillomavirus in esophageal squamous papillomas.

AIM: To investigate the presence of human papillomavirus (HPV) in esophageal squamous papilloma (ESP) and determine p16, p53 and Ki67 expression in a Mexican cohort. METHODS: Nineteen cases diagnosed as ESP, corresponding to 18 patients were reviewed; nineteen cases of normal esophageal mucosa were used as negative controls. HPV detection was performed by amplified chromogenic in situ hybridization (ACISH) using a wide spectrum-cocktail probe and PCR. RESULTS: The average age at presentation was 46.3 years (range 28-72 years). Patients included four (22.22%) males and 14 (77.77%) females. The most frequent location was upper third (11 cases), followed by middle third (3 cases) and unknown site (5 cases). Immunohistochemistry (IHC) revealed basal and focal p53 expression in 17 cases (89%); p16 was expressed in eight cases (42.10%) and the Ki67 index ranged from 10% to 30%. HPV was detected in 14 out of 16 cases (87.5%) by ACISH: Twelve showed diffuse nuclear patterns and two showed granular patterns. HPV DNA was identified by PCR in 12 out of 14 cases (85.7%). Low-risk HPV types were detected in the most of the cases. CONCLUSION: This study provides identification of HPV infection in almost 80% of ESP using either ACISH or PCR; overall, all of these lesions show low expression of cell-cycle markers. We suggest ACISH as an alternative diagnostic tool for HPV detection in ESP.

Apoptosis of melanocytes in vitiligo results from antibody penetration.

Vitiligo is a rather common disease characterized by depigmentation of skin and mucosae due to the loss of melanocytes, most likely as a result of autoimmune phenomena. In this study we demonstrated apoptotic markers in residual melanocytes in skin biopsies of patients with vitiligo, as well as the presence of serum antibodies to melanocyte-specific antigens in the vast majority of patients. Moreover, we were able to prove that serum IgG antibodies from vitiligo patients, but not from healthy controls, were capable to penetrate into cultured melanocytes in vitro, and trigger them to engage in apoptosis. Our results are consonant with the theory that melanocyte-specific antibodies are responsible for the deletion of melanocytes through antibody penetration and apoptosis.

Histologic variants of papillary and follicular carcinomas associated with anaplastic spindle and giant cell carcinomas of the thyroid: an analysis of rhabdoid and thyroglobulin inclusions.

We describe the histologic variants of papillary and follicular carcinomas associated with 109 spindle and giant cell carcinomas (SGCC) of the thyroid and determine the incidence of rhabdoid and thyroglobulin inclusions in these tumors. In addition, we searched for rhabdoid and thyroglobulin inclusions in 120 papillary carcinomas (PC) (all 15 variants included), 23 differentiated follicular carcinomas (DFC), (6 with insular pattern), 6 poorly differentiated follicular carcinomas (PDFC) and 34 follicular adenomas (FA). The following differentiated thyroid carcinomas coexisted with SGCC: 51 (46.8%) PC, (34 conventional type, 14 tall cell variant and 3 follicular variant), 6 (5.5%) DFC, 1 follicular carcinoma with insular pattern (0.9%), and 3 oncocytic carcinomas (2.8%). Eleven SGCC (10%) and 2 (33%) PDFC showed rhabdoid features, but lacked thyroglobulin inclusions. Thyroglobulin inclusions were found in 10 FA (29%), 8 (17%) follicular variants of PC and in 7 (30.4%) DFC. There were no rhabdoid inclusions in any of these differentiated thyroid tumors. Our findings support the hypothesis that most SGCC result from dedifferentiation or anaplastic transformation although the mechanisms that underlie this transformation remain unknown. The finding that only 1 (0.9%) SGCC was associated with follicular carcinoma with insular pattern contradicts the opinion that this tumor occupies an intermediate position between differentiated and anaplastic carcinomas. Rhabdoid features are markers of PDFC and SGCC while thyroglobulin inclusions are markers of FA and differentiated thyroid carcinomas with follicular phenotype.

Cutaneous Langerhans cell sarcoma: a case report and review of the literature.

Langerhans cell sarcoma (LCS) is a neoplastic proliferation of Langerhans cells that occurs in lymph nodes, liver, skin, spleen, lung, and bone. We report a case of LCS in a 47-year-old man with a 6-month history of scalp mass and cervical lymphadenopathy. Clinical and pathologic data were available. A histologic examination demonstrated a proliferation of cells with malignant cytologic features. Because of its poorly differentiated morphologic features, hematologic and nonhematologic entities were ruled out by immunohistochemical screening with a broad panel of antibodies. Ultrastructural studies demonstrating Birbeck granules and consistent expression of CD1a, S-100 protein, and langerin by immunohistochemistry were helpful in identifying the Langerhans cell origin.

Primary squamous cell carcinoma of the thyroid arising in Hashimoto's thyroiditis in an adolescent.

Squamous cell carcinoma is a rare thyroid neoplasm that has been described exclusively in adults. We report what appears to be the first example of a primary squamous cell carcinoma of the thyroid gland arising in a background of Hashimoto's thyroiditis in an adolescent female. The tumor was well demarcated, confined to the right thyroid lobe, and did not metastasize, although follow up has been limited. The squamous cell carcinoma was well to moderately differentiated, and the stroma contained an abundant inflammatory infiltrate rich in lymphocytes and eosinophils. The lack of goblet cells, extracellular mucin, and extensive stromal sclerosis excluded the diagnosis of sclerosing mucoepidermoid carcinoma with eosinophilia. Immunohistochemical staining revealed focal expression of cytokeratin 7 and diffuse labeling with cytokeratin AE1/AE3. The squamous cell carcinoma overexpressed p53 protein and showed increased proliferative activity, as evidenced by the high MIB-1 labeling index. In contrast, the tumor did not show immunoreactivity for thyroglobulin or thyroid transcription factor 1.

Fibrocartilaginous dysplasia (fibrous dysplasia with extensive cartilaginous differentiation).

Fibrocartilaginous dysplasia is a variant of fibrous dysplasia in which extensive cartilaginous differentiation is identified. The amount of cartilage varies from case to case, however, no percentage has been proposed to consider this diagnosis. We present a 6-year-old girl with a two-year history of hip pain. Initial imaging studies of the right femur revealed a lucent lesion of the proximal shaft that extended into the femoral neck with ill-defined borders but well maintained cortex. Computed tomography scan demonstrated increased density of the medullary cavity but the cortex appeared intact. Curettage of the lesion was performed and fragments with cartilaginous appearance were obtained, weighing 45 g in total. Microscopically, the tumor revealed a cartilaginous (60%) and a fibro-osseous (40%) component; the former had increased cellularity and some chondrocytes displayed moderate atypia and binucleation, while the latter showed features of fibrous dysplasia. Areas of endochondral ossification and calcification were also identified. After five years of surgery this child is well and without evidence of recurrence. We discuss the differential diagnosis of this variant of fibrous dysplasia in the pediatric group.

Fasciolosis hepatobiliar masiva / Massive hepatobiliary fasciolosis

mediante la exploración quirúrgica e identificación de los distomas adultos. El primer caso falleció por insuficiencia hepática y el segundo, recibió tratamiento con prazicuantel y se encuentra estable. Conclusiones: existen al menos cincuenta casos En México, la fasciolosis hepática es la parasitosis más común de la vía biliar. La infestación masiva es común en el ganado vacuno o bovino y en el hombre se presenta rara vez. Sólo existen dos informes previos de este evento y nosotros contribuimos con dos casos más. Presentación de casos. Ambos ocurrieron en pacientes cirróticos por alcohol, con historia de ingesta de berros (Nasturium officinalis) y se manifestaron con ictericia, dolor abdominal y dilatación coledociana. El diagnóstico se estableció de fasciolosis en México desde 1935, la mayoría de los cuales ha sido diagnosticada preoperatoriamente como colelitiasis, a pesar que en la mayoría había historia de ingesta de berros.

Un caso de hemartoma de glándulas de Brunner como causa de hemorragia de tubo digestivo / Case report of Brunner's gland hamartoma as a cause of upper gastrointestinal bleeding

Mujer de 26 años con un cuadro clínico de síndrome anémico, vómito postprandial y melena intermitente de seis meses de evolución. La homoglobina de ingreso fue de 3.5 g/dL. El estudio endoscópico mostró un tumor que ocupaba el 90 por ciento de la luz duodenal. Se tomaron biopsias que se informaron como duodenitis aguda y crónica erosiva. Con diagnóstico de probable leiomioma, se efectuó laparotomía exploradora con duodenotomía y se resecó un tumor pedunculado que correspondió a un hamartoma de glándulas de Brunner. Esto ocasionó obstrucción duodenal parcial y hemorragia del tubo digestivo, los dos síntomas más comunes de este tumor raro

Cistinosis: informe de un caso / Cystinosis: a case report

Se presenta el caso de un niño de dos años de edad cistinosis clásica, manifestada por síndrome de Fanconi (glucosuria, aminoaciduria y fosfaturia), raquitismo, talla baja, presencia de cristales de cistina en córnea y daño glomerular progresivo; demostrándose en le biopsia renal por medio de microscopia electrónica el acúmulo de los característicos cristales hexagonales de cistina. Debido a que la frecuencia de esta patología en nuestro país es muy baja, y el cuadro clínico de nuestro paciente es representativo de la variante infantil nefropática, decidimos realizar este informe