Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia

s Karyotypic evolution is a well-known phenomenon in patients with malignant hernatological disorders during disease progression. We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992. The diagnosis of a myelodysplastic syndrome (MDS) FAB subtype RAEB-t was established in April 1993 by histological bone marrow (BM) examination, and therapy with low-dose cytosine arabinoside was initiated. In a phase of partial hernatological remission, cytogenetic assessment in August 1993 revealed a ring chromosome 1 in 13 of 21 metaphases beside BM cells with normal karyotypes {[}46,XY,r(1)(p35q31)/46,XY]. One month later, the patient progressed to an acute myeloid leukemia (AML), subtype M4 with 40% BM blasts and cytogenetic examination showed clonal evolution by the appearance of additional numerical aberrations in addition to the ring chromosome{[}46,XY,r(1),+8,-21/45,XY,r(1),+8,-21,-22/46, XY]. Intensive chemotherapy and radiotherapy was applied to induce remission in preparation for allogeneic bone marrow transplantation (BMT) from the patient's HLA-compatible son. After BMT, complete remission was clinically, hematologically and cytogenetically (normal male karyotype) confirmed. A complete hematopoietic chimerism was demonstrated. A relapse in January 1997 was successfully treated using donor lymphocyte infusion and donor peripheral blood stem cells (PB-SC) in combination with GM-CSF as immunostimulating agent in April 1997, and the patient's clinical condition remained stable as of January 2005. This is an interesting case of a patient with AML secondary to MDS. With the ring chromosome 1 we also describe a rare cytogenetic abnormality that predicted the poor prognosis of the patient, but the patient could be cured by adoptive immunotherapy and the application of donor's PB-SC. This case confirms the value of cytogenetic analysis in characterizing the malignant clone in hernatological neoplasias, the importance of controlling the quality of an induced remission and of the detection of a progress of the disease. Copyright (c) 2006 S. Karger AG, Basel

Isolated Nasal Tip Metastasis from Esophageal Squamous Cell Carcinoma: Case Report and Literature Review

Objectives. Cutaneous metastases can be the first sign of a malignant disease and have an unfavorable prognostic significance. The external nose is rarely affected. The uncommon clinical presentation of these cutaneous metastases may lead to the wrong diagnosis and treatment. Methods. We present the case of a 59-year-old patient with a small indolent tumor on the tip of the nose that turned out to be the first sign of an extended esophageal cancer. Conclusion. The differential diagnosis of tumors of the facial skin and the nasal tip includes metastases from an unknown primary tumor. In rare cases, squamous cell carcinoma of the esophagus needs to be considered

Endoscopic Resection of Sinonasal Hemangiopericytoma following Preoperative Embolisation: A Case Report and Literature Review

Objectives. Hemangiopericytoma is a rare tumor entity deriving from pericytes. Less than 5% of hemangiopericytoma occur in the nasal cavity and are characterised by a rather benign nature with low tendency of metastasis. However, as the recurrence rate in the literature ranges from 9.5% to 50%—depending on the length of followup—a radical surgical resection is considered as the gold-standard treatment. Only a few years ago, a wide external approach, usually via lateral rhinotomy or Caldwell-Luc, was performed. Endoscopic techniques were regarded as appropriate for small low-vascularised tumors only. Methods. We present the case of a 64-year-old patient with an extended sinonasal hemangiopericytoma, who was successfully treated by an endoscopic controlled endonasal tumor resection after embolisation with Onyx. Further, to support the new treatment option, we review the literature concerning all features of sinonasal hemangiopericytomas and their therapeutical management. Results/Conclusion. Onyx, which has not been described in the context of hemangiopericytoma yet, is a very effective embolic agent for a preoperative embolisation of sinonasal hemangiopericytoma allowing a safe endoscopic surgery

Imaging of the internal nasal valve using long-range Fourier domain optical coherence tomography.

Objectives/hypothesisTo evaluate for the first time the feasibility and methodology of long-range Fourier domain optical coherence tomography (LR-OCT) imaging of the internal nasal valve (INV) area in healthy individuals.Study designProspective individual cohort study.MethodsFor 16 individuals, OCT was performed in each nare. The angle and the cross-sectional area of the INV were measured. OCT images were compared to corresponding digital pictures recorded with a flexible endoscope.ResultsINV angle measured by OCT was found to be 18.3° ± 3.1° (mean ± standard deviation). The cross-sectional area was 0.65 ± 0.23 cm(2) . The INV angle measured by endoscopy was 18.8° ± 6.9°. There was no statistically significant difference between endoscopy and OCT concerning the mean INV angle (P = .778), but there was a significant difference in test precision (coefficient of variance 50% vs. 15%; P < .001).ConclusionsLR-OCT proved to be a fast and easily performed method. OCT could accurately quantify the INV area. The values of the angle and the cross-sectional area of the INV were reproducible and correlated well with the data seen with other methods. Changes in size could be reliably delineated. Endoscopy showed similar values but was significantly less precise.Level of evidence2b. Laryngoscope, 126:E97-E102, 2016

In vivo imaging of the internal nasal valve during different conditions using optical coherence tomography.

ObjectivePreviously, we proposed long-range optical coherence tomography (LR-OCT) to be an effective method for the quantitative evaluation of the nasal valve geometry. Here, the objective was to quantify the reduction in the internal nasal valve angle and cross-sectional area that results in subjective nasal airway obstruction and to evaluate the dynamic behavior of the valve during respiration using LR-OCT.MethodsFor 16 healthy individuals, LR-OCT was performed in each naris during: 1) normal respiration, 2) peak forced inspiration, 3) lateral nasal wall depression (to the onset of obstructive symptoms), and 4) after application of a topical decongestant. The angle and the cross-sectional area of the valve were measured.ResultsA reduction of the valve angle from 18.3° to 14.1° (11° in Caucasians and 17° in Asians) and a decrease of the cross-sectional area from 0.65 cm2 to 0.55 cm2 led to subjective nasal obstruction. Forceful breathing did not significantly change the internal nasal valve area in healthy individuals. Application of nasal decongestant resulted in increased values.ConclusionLR-OCT proved to be a fast and readily performed method for the evaluation of the dynamic behavior of the nasal valve. The values of the angle and the cross-sectional area of the valve were reproducible, and changes in size could be accurately delineated.Level of evidence2b. Laryngoscope, 128:E105-E110, 2018

CD39 Expression Identifies Terminally Exhausted CD8+ T Cells.

Exhausted T cells express multiple co-inhibitory molecules that impair their function and limit immunity to chronic viral infection. Defining novel markers of exhaustion is important both for identifying and potentially reversing T cell exhaustion. Herein, we show that the ectonucleotidse CD39 is a marker of exhausted CD8+ T cells. CD8+ T cells specific for HCV or HIV express high levels of CD39, but those specific for EBV and CMV do not. CD39 expressed by CD8+ T cells in chronic infection is enzymatically active, co-expressed with PD-1, marks cells with a transcriptional signature of T cell exhaustion and correlates with viral load in HIV and HCV. In the mouse model of chronic Lymphocytic Choriomeningitis Virus infection, virus-specific CD8+ T cells contain a population of CD39high CD8+ T cells that is absent in functional memory cells elicited by acute infection. This CD39high CD8+ T cell population is enriched for cells with the phenotypic and functional profile of terminal exhaustion. These findings provide a new marker of T cell exhaustion, and implicate the purinergic pathway in the regulation of T cell exhaustion