Pre-surgical cryoablation in ≤ 2 cm ER + /HER2-tumors. Prognostic factors for the presence of residual invasive carcinoma.

BACKGROUND: Breast cancer remains the most commonly diagnosed cancer in women. Breast-conserving surgery (BCS) is the standard approach for small low-risk tumors. If the efficacy of cryoablation is demonstrated, it could provide a minimally invasive alternative to surgery. PURPOSE: To determine the success of ultrasound-guided cryoablation in achieving the absence of Residual Invasive Cancer (RIC) for patients with ER + /HER2- tumors ≤ 2cm and sonographically negative axillary nodes. MATERIALS AND METHODS: This prospective study was carried out from April 2021 to June 2023, and involved 60 preoperative cryoablation procedures on ultrasound-visible, node-negative (cN0) infiltrating ductal carcinomas (IDC). Standard diagnostic imaging included mammography and tomosynthesis, supplemented by ultrasound-guided biopsy. MRI was performed in patients with associated intraductal carcinoma (DCIS) and an invasive component on core needle biopsy (18 out of 22 cases). All tumors were tagged with ferromagnetic seeds. A triple-phase protocol (freezing-thawing-freezing) with Argon was used, with an average procedure duration of 40 min. A logistic regression model was applied to determine significant correlation between RIC and the study variables. RESULTS: Fifty-nine women (mean age 63 ± 8 years) with sixty low-risk unifocal IDC underwent cryoablation prior to surgery. Pathological examination of lumpectomy specimens post-cryoablation revealed RIC in only one of 38 patients with pure IDC and in 4 of 22 mixed IDC/DCIS cases. All treated tumors had clear surgical margins, with no significant procedural complications. CONCLUSIONS: Cryoablation was effective in eradicating 97% of pure infiltrating ER + /HER2-tumors ≤ 2cm, demonstrating its potential as a surgical alternative in selected patients.

Endometriosis umbilical primaria: reporte de dos casos / Primary umbilical endometriosis: two case reports

INTRODUCCIÓN: La endometriosis es una patología benigna, dependiente de estrógenos, en la que el tejido que normalmente crece dentro del útero aparece fuera de este. Su localización habitual es en la pelvis, pero en ocasiones puede aparecer en otras áreas, como es el caso de la endometriosis umbilical. OBJETIVO: Familiarizar al ginecólogo con esta patología y entregar una serie de herramientas para diagnosticar, tratar y seguir a las pacientes que la presentan. CASOS CLÍNICOS: Se presentan dos casos clínicos de endometriosis umbilical primaria diagnosticados en el Hospital La Paz, en Madrid (España), entre los años 2018 y 2019. Las pacientes, de 30 y 34 años, consultaron por dolor o sangrado umbilical durante la menstruación. Ninguna tenía antecedentes de patología ginecológica ni cirugía abdominal previa. Tras una exhaustiva exploración física y una ecografía de alta resolución, se decidió extirpar la lesión con la colaboración del servicio de cirugía plástica. En ambos casos, el estudio anatomopatológico confirmó que se trataba de tejido endometriósico. Las dos pacientes presentaron una buena evolución posquirúrgica, sin recidivas hasta la fecha. CONCLUSIONES: La endometriosis umbilical primaria es una patología infrecuente, pero es necesario incluirla en el diagnóstico diferencial de una mujer con un nódulo umbilical. Siempre deben realizarse una exploración física exhaustiva y una ecografía ginecológica, para descartar posibles patologías concomitantes. El tratamiento de elección es la extirpación quirúrgica de la lesión y el diagnóstico final se establece con el estudio anatomopatológico.

INTRODUCTION: Endometriosis is an estrogen-dependent benign pathology in which endometrial tissue develops outside the uterus. Its most frequent location is the pelvis, although it can appear in other areas such as the umbilicum. OBJECTIVE: To familiarize the gynecologist with this pathology and provide a series of tools to diagnose, treat and provide continued care to these patients. CASE REPORTS: Retrospective study of two clinical cases of primary umbilical endometriosis diagnosed at La Paz University Hospital, in Madrid (Spain), between 2018 and 2019. Both patients (30 and 34 years old respectively) presented with pain and/or bleeding around the umbilical area during menstruation. Neither of them had any previous gynecologic conditions or abdominal surgeries. After exhaustive physical examination and a high-resolution ultrasound, lesions were surgically removed in collaboration with the plastic surgery department. In both cases, histology confirmed the presence of endometrial tissue. Both patients made a full recovery after surgery and havent had a recurrence of said lesions. CONCLUSIONS: Primary umbilical endometriosis is an infrequent disease. However, it must be included in the differential diagnosis of umbilical nodes in women. Exhaustive physical examination and gynecologic ultrasound should always be performed to rule out any other pathologies. Surgical removal of the nodes is the preferred treatment, and the final diagnosis is reached through histology.

An Unusual Case of Hypopituitarism as an Adverse Effect of Vandetanib and Remission of Breast Metastases in a Patient with Medullary Thyroid Cancer.

INTRODUCTION: Tyrosine kinase inhibitors have been a breakthrough in the treatment of advanced medullary thyroid cancer (MTC), and they can prolong progression-free survival (PFS). CASE PRESENTATION: A patient with MTC and metastatic spread to the lymph nodes, lungs, bones, breast, and cerebellum started treatment with vandetanib. During treatment, she developed secondary adrenal insufficiency and hypogonadotropic hypogonadism. After 9 years of vandetanib therapy, the disease has not progressed and the patient maintains a complete response of the breast metastases and a partial response of the other metastatic lesions. CONCLUSION: To our knowledge, this is the first reported case of secondary adrenal insufficiency and hypogonadotropic hypogonadism related to therapy with vandetanib. Moreover, the prolonged PFS and the complete disappearance of some of the metastatic lesions in this patient are truly unusual.

A case-control study to assess the role of polyomavirus in transplant complications: Where do we stand?

PURPOSE: The study's aim was to assess whether polyomavirus DNAemia screening was associated with different outcomes in patients with positive viremia compared with negative viremia. METHODS: Case-control retrospective study of patients with polyomavirus DNAemia (viremia > 1000 copies/mL) matched 1:1 with controls. Control group consists of the patient who received a transplant immediately before or after each identified case and did have nil viremia. FINDING: Ultimately, 120 cases of BK polyomavirus (BKPyV) were detected and matched with 130 controls. Of these, 54 were adult kidney transplant recipients (KTRs), 43 were pediatric KTRs, and 23 were undergoing hemato-oncologic therapy, of which 20 were undergoing hematopoietic stem cell transplantation. The odds ratio (OR) for overall risk of poorer outcomes in cases versus controls was 16.07 (95% CI: 5.55-46.54). The unfavorable outcome of switching the immunosuppressive drug (ISD) (14/40,35%) was no different from that of those treated with reduced ISD doses (31/71, 43.6%, P = .250). Acute rejection or graft-versus-host disease, previous transplant, and intensity of immunosuppression (4 ISDs plus induction or conditioning) were risk factors for BKPyV-DNAemia (OR: 13.96, 95% CI: 11.25-15.18, P < .001; OR: 6.14, 95% CI: 3.91-8.80, P < .001; OR: 5.53, 95% CI: 3.37-7.30, P < .001, respectively). CONCLUSIONS: Despite viremia screening, dose reduction, and change in therapeutic protocol, patients with positive BKPyV-DNAemia present poorer outcomes and unfavorable results.

Fibromatosis mamaria. Reporte de dos casos clínicos y revisión bibliogáfica / Mammary fibromatosis. Two case report and review of literatura

RESUMEN Introducción y objetivos: La fibromatosis produce tumores benignos pero localmente agresivos, que afectan a los tejidos blandos. A nivel mamario, representa tan sólo el 0.2% de las neoplasias de la mama. Nuestro objetivo con el presente artículo es profundizar en el conocimiento de la fibromatosis mamaria, a través del estudio de dos casos clínicos, mostrando sus características clínico-radiológicas e histológicas, e intentar establecer un protocolo de actuación adecuado. Métodos: Estudio retrospectivo de dos casos clínicos de fibromatosis mamaria diagnosticados en el Hospital Universitario La Paz entre los años 2018 y 2019. Resultados: Presentaremos dos pacientes con diagnóstico de fibromatosis mamaria, ambas debutaron con la autopalpación de un nódulo mamario. Al realizarles una ecografía, se visualizó un nódulo sólido, mal definido y axila ecográficamente negativa, que precisó de biopsia-aspiración con aguja gruesa. En los dos casos, se decidió resección quirúrgica de la lesión. Seguimiento mediante exploración mamaria y pruebas de imagen periódicas. Conclusiones: Aunque se trata de una entidad benigna, la fibromatosis mamaria puede simular un proceso maligno, tanto clínica como radiológicamente, por lo que precisa de un estudio histológico. A pesar de que la diseminación metastásica es muy poco frecuente, no se debe olvidar el carácter agresivo a nivel local de esta patología, y sus altas tasas de recurrencia. Como tratamiento, se debe realizar una resección quirúrgica, aunque recientemente se ha contemplado la opción de vigilancia estrecha sin tratamiento. No existe evidencia científica que justifique la utilización de otros tratamientos como la radioterapia o el tratamiento hormonal.

ABSTRACT Introduction and objectives: Fibromatosis produces benign but locally aggressive tumours that affect soft tissues. At breast level, it represents only 0.2% of breast neoplasms. Our goal with this article is to increase knowledge on breast fibromatosis, through the study of two clinical cases; explaining their clinical-radiologic and histological characteristics. Additionally, try to establish an adequate protocol, for the management of the disease and for its subsequent monitoring. Methods: A retrospective study about two clinical cases of breast fibromatosis diagnosed in La Paz Hospital between 2018-2019. Results: both patients presented with clinical manifestations, autopalpation of a breast nodule. A breast ultrasound was performed and a solid nodule was visualized, with poorly defined edges and ecographically negative armpit. A core needle biopsy was performed to confirm the histological diagnosis. In both clinical cases, the treatment was surgical resection of the lesion. Periodic revisions are being performed in order to exclude recurrence. Conclusions: Although it is a benign disease, breast fibromatosis can simulate a malignancy, both in a clinical and radiological way, so histological study is mandatory in order to achieve an accurate diagnosis. Even metastatic dissemination is extremely rare, the local aggressive nature and high rates of recurrence for fibromatosis makes surgical excision, with wide free margins, the most important tool in treatment, although the possibility of close surveillance without treatment is recently being contemplated. There is no scientific evidence to justify the use of other treatments such as radiotherapy or hormonal treatment.

Multiple myeloma presenting as dural plasmacytoma.

The finding of intracranial, extramedullary plasmacytoma is rare in multiple myeloma, especially with dural involvement. Meningioma remains the most common intracranial extra-axial mass. We report a case of a 39-year-old male who presented with intracranial, extra-axial mass found later to be dural plasmacytoma and additional multiple lesions on skeletal survey, leading to a diagnosis of multiple myeloma. The objective of this case is to increase awareness of the possibility of dural plasmacytoma as a differential diagnosis of meningioma and a harbinger of multiple myeloma. Magnetic resonance imaging plays a vital role in the detection of additional lesions in individuals while excluding multiple myeloma.

A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma.

Pheochromocytoma (Pheo) is a chromaffin tumor arising from the adrenal medulla. The recent discovery of new germline mutations in RET, SDHA, SDHB, SDHC, SDHD, VHL, NF1, TMEM127, MAX genes, increased the rate of genetic disease from 10% to 28% in patients with apparently sporadic tumor. RET germline mutations cause multiple endocrine neoplasia type 2 syndrome (MEN 2A) characterized by complete penetrance of medullary thyroid cancer (MTC), and lower prevalence of Pheo and hyperparathyroidism. We describe the genetic etiology of an apparently sporadic case of monolateral Pheo in a 42-year-old male patient. A new (not previously reported) MEN 2A-associated germline RET mutation located in exon 11 (Glu632Gly, caused by an A>G point mutation at position 1895 of the RET cDNA) was found in the patient but not in his living first-degree relatives. This observation increases the number of possible germline RET mutations. Genotype-phenotype correlation of this new genetic alteration is unknown, but this rare mutation is probably associated with a low risk for MTC (usually the first tumor diagnosed in MEN 2A syndrome) and with the development of Pheo before the onset of MTC. Since we expect MTC to occur in our patient, strict follow-up is mandatory. Our findings emphasize the relevance of genetic testing in patients with Pheo, especially when the clinical presentation (family history, young age at diagnosis, multiple locations, malignant lesions, and bilateralism) is suggestive.

Epithelioid hemangioma of the orbit or angiolymphoid hyperplasia with eosinophilia.

A patient was referred to the department for an incidentally discovered right orbital mass on MRI. After surgical excision, histopathologic examination led to the diagnosis of epithelioid hemangioma, a tumor rarely located in the orbit, whose main histopathologic feature is an exuberant proliferation of small vascular channels lined by enlarged endothelial cells. The clinical characteristics and histopathology of epithelioid hemangioma allow differentiation with Kimura disease, angiosarcoma, intravascular papillary endothelial hyperplasia, and other vascular tumors that share the common feature of an abnormal proliferation of endothelial cells. Although epithelioid hemangioma is extremely rare, it should be considered in the differential diagnosis of orbital tumors.

Conjunctival lymphangiectasia presenting as pediatric pseudopterygium.

OBJECTIVES: The aim of this study is to report a case of conjunctival lymphangiectasia simulating a pediatric pterygium. METHODS: A 10-year-old girl with Turner syndrome and familial history of pterygia presented because of a conjunctival growing lesion clinically consistent with pterygium in her left eye. Visual acuity (VA) was 20/20 in the right eye and 20/40 in the left eye. Cycloplegic refraction was +1.50sph -0.50cyl×93° and +9.00sph -9.00cyl×180° in the right and left eyes, respectively. RESULTS: Resection of the lesion with amniotic membrane implantation and conjunctival autograft was performed. The histologic examination revealed conjunctival lymphangiectasia. Ten months later, the patient did not show any signs of recurrence. Refraction in the left eye was +0.5sph -1.5cyl×70°, and spontaneous VA was 20/20 in both eyes. CONCLUSIONS: Pediatric pseudopterygium may be the clinical presentation of several ocular surface disorders. Thus, pathologic analysis of this lesion should be considered to determine its exact nature. Surgery lessens the refractive defect and hastens visual recovery.

Atención integral de niños niñas y adolescentes con VIH / Comprehensive care of children and adolescents with HIV

Con el objetivo de mejorar el acceso a una atención integral de los niños, niñas y adolescentes con VIH, esta publicación ofrece un aporte para el trabajo de los equipos de salud comprometidos con la temática en Argentina. Si definirse estrictamente como una guía el contenido contempla las recomendaciones basadas en la evidencia y la experiencia de los principales referentes de cada área y reúne los aspecto biomédicos y socio culturales de la infección, asumiendo que se trata de una mirada indispensable para el abordaje integral de los procesos salud enfermedad. El volumen pretende ser una fuente de consulta que facilite la tarea de los pediatras y hebiatras no infectologos de adultos que frecuentemente realizan el seguimiento de adolescentes con HIV, ya que resulta necesario promover el acercamiento de las pediatrías generales a las especifidades del VIH, y de los infectologos de adultos a las necesidades en la adolescencia, para reducir los obstáculos en el circuito de atención. Fortalecer esta tarea es un escalón esencial para lograr la mejor atención de los niños, niñas y adolescentes con VIH en nuestro país, entendiendo que constituyen una población especialmente vulnerable que requiere políticas especificas para una mejor respuesta desde el sector de salud, La presente demuestra, también el resultado de una experiencia innovadora de trabajo compartido entre los organismos del estado, la sociedad científica y las agencias del Sistema de Naciones Unidas

Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.

Lesch-Nyhan disease (LND) is an inborn error of purine metabolism caused by defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT, EC 2.4.2.8), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26). The classic phenotype occurs almost exclusively in males and is characterized by hyperuricemia, mental retardation, severe dystonia, and self-injurious behavior. Heterozygous carrier females are usually clinically normal. However, a small number of clinically affected females have been described. In all previous cases there was a mutation in one HPRT allele and non-random inactivation of the X chromosome carrying the normal HPRT gene. We have analyzed a female MZ twin pair discordant for Lesch-Nyhan disease. The mother and both twins are heterozygous carriers of a HPRT splicing mutation (IVS8 + 4A > G; c.609 + 4A > G) and all three express the mutant allele at similar frequencies in peripheral blood T cells. The mother and one sister are clinically normal. In the affected twin, the clinical phenotype is classical for Lesch-Nyhan disease, despite the fact that HPRT activity in the blood was also normal. X inactivation analysis showed a skewed pattern in the fibroblasts of the affected twin sister, with the X chromosome carrying the normal HPRT allele preferentially inactivated. As in many other reported cases of X-linked diseases, the discordant phenotype of the two monozygous twin sisters suggests that the process responsible for monozygotic twinning can trigger skewed X inactivation.

Malignant mixed tumor of the larynx.

BACKGROUND: Malignant mixed tumor of the larynx is a very rare neoplasm; only five cases have been reported, three in the English-language literature. METHODS: We report the case of a 69-year-old man with a 2-month history of hoarseness and a left laterocervical palpable mass. RESULTS: Total laryngectomy and bilateral radical neck dissection were performed. The tumor involved the glottic and subglottic regions and thyroid cartilage and extended to the anterior side of the larynx. Microscopically, the tumor was composed of three cellular types: epithelial cells, chondrocytes, and spindle cells. The epithelial cells resembled a moderately differentiated adenocarcinoma, the mesenchymal cells resembled a high-grade chondrosarcoma, and the spindle cells had immunohistochemical features of myoepithelial cells. The tumor metastasized to a cervical lymph node, with the three described components. The patient died 11 months after surgery. CONCLUSIONS: The lesion in this case was considered to be a malignant mixed tumor. Differences between this tumor and that of laryngeal chondrosarcoma are discussed.