A novel HMGA2-YAP1 fusion gene in a patient with aggressive angiomyxoma.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e22514-e22514
Author(s):  
Brandon Dasilva ◽  
Mee-Young Lee ◽  
Daniel C. Ramirez ◽  
Robert G. Maki
Keyword(s):  
Fusion Gene ◽  
Case Series ◽  
Chromosome 12 ◽  
High Recurrence Rate ◽  
Molecular Testing ◽  
Aggressive Angiomyxoma ◽  
Tumor Type ◽  
Preoperative Radiation ◽  
Curative Surgery ◽  
Show Evidence

e22514 Background: Aggressive angiomyxoma (AA) is a rare neoplasm typically found in the perineum or pelvis, often with a gelatinous consistency and a highly vascular nature that leads to surgical complications and a high recurrence rate following what otherwise are attempts at curative surgery. For patients with recurrent disease in whom surgery is not indicated or potentially mutilating, estrogen antagonism has been successfully employed. HMGA2 on chromosome 12 has been known to be translocated in this tumor for over a decade, but no partners have been identified for HMGA2 in this tumor type. Methods: A 44-year-old woman with a perineal mass underwent attempted resection, but this was halted due to extensive blood loss after removal of a portion of what proved to be an AA. She was referred for systemic treatment to the sarcoma clinic. A Foundation Medicine Heme test was conducted on the patient's tumor. Results: The patient was treated with leuprolide and anastrozole with a RECIST 1.1 partial response and loss of vascularity consistent with a radiological response. She underwent preoperative radiation therapy and a follow up operation with negative margins. The resection specimen showed evidence of a very good result from systemic therapy and radiation. Molecular testing demonstrated a HMGA2-YAP1 fusion, implying a t(11;12)(q22.1;q14.3) translocation. Conclusions: This is the first demonstration of a partner for the HMGA2 gene in AA. A variety of other translocations have been found in AA, some of which involve chromosome 12. Thus, as with benign lesions such as lipomas, myolipomas, osteochondrolipomas, leiomyomas, pleomorphic adenomas, as well as a smaller number of overt malignancies, there appears to be promiscuity in HMGA2 (or other translocation) fusion products that lead to development of AA. Not all patients with AA respond to estrogen antagonism, or will show evidence of benefit before getting worse, as shown in case series and reports of AA patients. Assessing HMGA2 partners and their outcomes may better stratify future patients with AA with respect to possible benefit of estrogen antagonism.

scholarly journals EXPERIENCE WITH USING RAPID MOLECULAR TESTING IN DIAGNOSING PULMONARY AND EXTRA-PULMONARY PEDIATRIC TUBERCULOSIS IN A NON-ENDEMIC SETTING - A RETROSPECTIVE CASE SERIES

2018 ◽  
Vol 23 (suppl_1) ◽  
pp. e44-e45 ◽  
Author(s):  
Hana Mijovic ◽  
Yossef Al-Nasser ◽  
Ghada Al-Rawahi ◽  
Ashley Roberts
Keyword(s):  
Case Series ◽  
Pericardial Fluid ◽  
Diagnosis And Treatment ◽  
Molecular Testing ◽  
Retrospective Case ◽  
Detection Rates ◽  
Endemic Setting ◽  
Number Of Patients ◽  
Small Patient Population ◽  
Extra Pulmonary

Abstract BACKGROUND Tuberculosis (TB) is a rare but potentially devastating infection among Canadian children. Accurate diagnosis and initiation of treatment are limited in part by the fact that it takes 2–6 weeks for culture results to be confirmed. Xpert MTB/RIF (Xpert) is a rapid, automated molecular assay that has been validated for diagnosing pulmonary but not extra-pulmonary TB in children. OBJECTIVES This was a retrospective study of children investigated for active TB at our facility in order to: 1.Outline demographic characteristics and describe clinical presentations of children diagnosed with active TB. 2.Compare performance of molecular testing (Xpert) to stain and Mycobacterium tuberculosis culture on pulmonary and extra-pulmonary specimens. DESIGN/METHODS We conducted a retrospective chart review of all paediatric patients investigated for active TB at our facility with stain, culture and molecular (Xpert) testing between January 2015 and August 2017. Due to a small number of patients, our data analysis was limited to narrative summary and descriptive statistics. RESULTS A total of 10 children were diagnosed with active TB, including 3 cases of pulmonary, 4 extra-pulmonary and 3 disseminated disease. Age range at diagnosis was 2 months to 16 years, with 3 children younger than 1 year. Most children contracted TB while travelling to and/or being exposed to an index case from endemic areas, including East Asia/Western Pacific (5), South Asia (2) and Africa (1). All children were HIV negative. Time from symptom onset to TB diagnosis and treatment ranged from approximately 4 days to 5 months. Multi-drug resistant TB was confirmed in 1 child. Sadly, 1 child passed away from TB related complications. AFB stain was positive on at least one specimen in 4/10 cases, cultures were positive in 8/10 and molecular testing (Xpert) in 7/10 cases. Time to positive cultures ranged from 10 to 35 days, with an average of 19 days. All cases positive on Xpert were also culture positive. Xpert test diagnosed TB in 5/6 of extra-pulmonary specimens submitted, including pericardial fluid, lymph node tissues and cerebrospinal fluid. CONCLUSION Many paediatric TB patients at our facility are children who have traveled to/have contacts from TB endemic regions, emphasizing the need for obtaining thorough exposure and travel history. Culture and molecular testing demonstrated similar TB detection rates, albeit based on a small patient population. While cultures remain the most reliable diagnostic method, molecular testing may facilitate rapid diagnosis and treatment of pulmonary and extra-pulmonary paediatric TB in a non-endemic setting.

High recurrence rate after posterior component separation and keyhole mesh reconstruction for complex parastomal hernia: a case series study.

2021 ◽  
Author(s):  
Alvaro Robin Valle de Lersundi ◽  
Niccolo Ruppealta ◽  
Carlos San Miguel Mendez ◽  
Joaquin Muñoz Rodriguez ◽  
Marina Pérez Flecha ◽  
...  
Keyword(s):  
Recurrence Rate ◽  
Parastomal Hernia ◽  
Case Series ◽  
Component Separation ◽  
High Recurrence Rate ◽  
Posterior Component Separation ◽  
Case Series Study ◽  
Mesh Reconstruction ◽  
Series Study

scholarly journals The Tail Wagging the Dog (or the Challenges Faced When the Financing of Medicine Gets Ahead of the Science of Medicine)

2018 ◽  
Vol 56 (10) ◽  
Author(s):  
David W. Kimberlin
Keyword(s):  
Case Series ◽  
Molecular Testing ◽  
Labor Costs ◽  
Specific Test ◽  
Potential Harm ◽  
Viral Culture ◽  
Diagnostic Decision ◽  
Simplex Virus ◽  
Diagnostic Decision Making ◽  
Made In

ABSTRACTIn their article in this issue of theJournal of Clinical Microbiology, S. R. Dominguez et al. (J Clin Microbiol 56:e00632-18, 2018,https://doi.org/10.1128/JCM.00632-18) describe the performance of PCR detection of herpes simplex virus (HSV) DNA versus viral culture in skin and mucosal samples from 7 neonates with HSV disease. This is a significant contribution to our understanding of the optimal diagnostic approach in babies being evaluated for neonatal HSV disease. Many diagnostic laboratories already have made the change to molecular diagnostics for skin and mucosal swab testing, however, in large part due to the labor costs associated with viral cultures. Thus, important studies such as this one are being conducted to support a decision that has already been made in many locations on mostly economic grounds. This small case series supports the decision to use molecular testing for samples from skin and mucosal sites, but larger studies are needed to more fully define the performance characteristics of PCR in this population. Since a false-positive result would commit a baby to months of management that would be unnecessary and have potential harm, it is critical to base diagnostic decision making on data that support the use of a specific test.

Recovery of Cranial Nerve Deficits in Patients Presenting with Pituitary Apoplexy: A Case Series

2021 ◽  
Author(s):  
Mohammed Alahmari ◽  
Fahad Alkherayf ◽  
Andrea Lasso ◽  
Fatmahalzahra Banaz ◽  
Sepideh Mohajeri ◽  
...  
Keyword(s):  
Cranial Nerve ◽  
Nerve Palsy ◽  
Pituitary Apoplexy ◽  
Case Series ◽  
Surgical Decompression ◽  
Tumor Type ◽  
Visual Deficit ◽  
Nerve Recovery ◽  
Sixth Nerve

Abstract Background Pituitary apoplexy (PA) is a rare complication of pituitary tumors that can present with a myriad of symptoms, including sudden onset cranial nerve deficits. After patient stabilization and hormone replacement, surgical decompression is often recommended. The timing of surgical decompression remains controversial. In this case series, we describe our institutional experience pertaining to the cranial nerve recovery in patients who underwent endoscopic endonasal transsphenoidal (EETS) surgery for PA while evaluating outcome based on tumor stage using the suprasellar infrasellar parasellar anterior posterior (SIPAP) classification. Design Present study is a single-institution retrospective cohort. Methods A retrospective review of all EETS cases for pituitary tumor resection between November 2009 and August 2018. Queries of the hospital database were completed by trained personnel to identify cases of PA treated using the EETS approach. Baseline characteristics, tumor type, endocrine data, and SIPAP classification based on preoperative magnetic resonance imaging (MRI) and operation characteristics were extracted from medical records. Postoperative results were extracted for the duration of the follow-up period available for each patient. Results Fifteen cases of PA were identified. Patient follow-up period was a mean of 30 months. The cranial nerve deficits present at admission were visual deficit (33%); unilateral third nerve palsy (47%) and unilateral sixth nerve palsy (27%). No fourth nerve palsies were observed. Following EETS, 60% of patients with preoperative visual deficit had normal visual fields. For those with third and sixth nerve palsies preoperatively, 43 and 75%, respectively, had return to normal function postoperatively. SIPAP tumor characteristics were not related to postoperative cranial nerve recovery. Conclusion In this series of surgically treated patients with pituitary apoplexy, all cranial nerve deficits normalized or improved following surgery. The tumor SIPAP classification was not associated with patient outcome. Though in a small series, the presented results suggest surgical treatment is beneficial for these patients.

Improved prognostic precision in uveal melanoma through a combined score of clinical stage and molecular prognostication

2021 ◽  
Author(s):  
Andrew W. Stacey ◽  
Vaidehi S. Dedania ◽  
Miguel Materin ◽  
Hakan Demirci
Keyword(s):  
Uveal Melanoma ◽  
Risk Score ◽  
Clinical Stage ◽  
Case Series ◽  
Clinical Staging ◽  
Molecular Testing ◽  
Total Risk ◽  
Retrospective Case ◽  
Simple Method ◽  
Kaplan Meier

Introduction: Prognosis of uveal melanoma (UM) is assessed using clinical staging or molecular testing. Two modalities often used for prognostication are the American Joint Committee on Cancer (AJCC) staging and a tumor gene expression profile (GEP), the outcomes of which are often discordant. This paper discusses a Total Risk Score created to combine the discordant information from both sources. Methods: A retrospective case series was conducted of all patients presenting with UM over six years to two referral centers. Each tumor was classified using the AJCC and the GEP. A Total Risk Score was calculated for each patient using results from both AJCC and GEP. Kaplan-Meier analysis of metastasis free-survival was used to compare groups. Results: A total of 294 patients were included in the study. Kaplan-Meier estimates showed significant curve separation between individual AJCC and GEP risk groups. The combined Total Risk Score provided an accurate estimate of prognosis that incorporated results from both AJCC and GEP. Conclusions: Clinical staging and molecular prognostication of UM can be discordant. There is important information provided by each system that is not provided by the other. The Total Risk Score provides a simple method to combine information from both the AJCC stage and the GEP class in order to provide patients and care teams with a more complete understanding of metastatic risk.

DIFFUSE LEPTOMENINGEAL GLIONEURONAL TUMOR IN CHILDREN: MR CHARACTERISTICS, CLINICAL FEATURES AND OUTCOME. FOUR CLINICAL CASES

2021 ◽  
Vol 20 (1) ◽  
pp. 42-55
Author(s):  
A. F. Valiakhmetova ◽  
L. I. Papusha ◽  
A. V. Artemov ◽  
G. V. Tereshchenko ◽  
E. A. Sal’nikova ◽  
...  
Keyword(s):  
Fusion Gene ◽  
Molecular Genetic ◽  
Complete Response ◽  
Mek Inhibitor ◽  
Braf V600e ◽  
Glioneuronal Tumor ◽  
Molecular Testing ◽  
Genetic Characteristics ◽  
Diffuse Leptomeningeal Glioneuronal Tumor ◽  
Braf Fusion

Background. Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an extremely rare entity first officially recognized in 2016 WHO classification of tumors of the central nervous system. Magnetic resonance imaging (MRI) of this tumor usually visualizes diffuse meningeal infiltration with contrast enhancement, with the presence of multiple small contrast‑negative cysts, visible mainly in the T2 images. The main molecular markers of DLGNTs include the KIAA1549-BRAF fusion gene, BRAF V600E substitution is less common.The aim of this work is to describe the manifestation of DLGNT, its neuroimaging and molecular genetic characteristics, the experience of using anti‑BRAF and anti‑MEK therapy.Materials and methods. In this article are described four cases of DLGNT. The first patient with the presence of the KIAA1549-BRAF fusion in the tumor tissue received a full course of SIOP‑LGG / 2004 chemotherapy (carbo‑ platin and vincristine), the stabilization of the disease on the MRI remains for 4 years after completion of treatment. Second patient with KIAA1549-BRAF fusion gene in tumour tissue received MEK inhibitor trametinib as first line of treatment with the stabilization of the disease on control MRI which last for 2 years. A third patient with a mutation in the BRAF V600E gene. After disease progression on standard chemotherapy (carboplatin and vincristine) according to the SIOP‑LGG / 2004 protocol, anti‑BRAF therapy with vemurafenib was prescribed. After 10 months on MRI a complete response was recorded, which persists during the drug intake for 2.5 years. In the fourth patient, no molecular genetic aberrations were detected; a refractory / progressive course of the dis‑ ease was noted. To date, the stabilization of the disease is recorded on the fourth line of chemotherapy (everoli‑ mus and temozolomide).Conclusion. Given the rarity of this tumor and the lack of consensus about therapy, despite the limited number of observations, our experience allows us to recommend molecular testing of DLGNT to detect activating events in the BRAF gene, as well as consideration of anti‑BRAF / MEK therapy if either the BRAF V600E mutation is de‑ tected or KIAA1549-BRAF fusion.

Practical Approach to the Pathologic Diagnosis of Mixed Filamentous Fungal Infections in Burn Wounds: A Case Series

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S133-S133
Author(s):  
A D Pyden ◽  
I Solomon ◽  
A Laga Canales
Keyword(s):  
Opportunistic Infections ◽  
Fungal Infections ◽  
Case Series ◽  
Fungal Species ◽  
Molecular Testing ◽  
Burn Wounds ◽  
Tissue Sections ◽  
True Infection ◽  
Extensive Burn

Abstract Introduction/Objective Opportunistic infections by fungi are a major source of morbidity and mortality in patients suffering from extensive burn wounds. Here we review a series of cases of infections by multiple fungi in burn wounds as diagnosed by histopathology and outline the key features for the pathologist to include in the report. Methods/Case Report Biopsies from patients with more than one fungal species identified in the laboratory in a concurrent culture or by PCR were included in this study. Three cases are presented with multiple fungi identified. Each case had yeast and at least one different hyaline mold species present on pathology; two cases additionally had mucormycetes present, with angioinvasion in one case. All organisms requiried microbiologic cultures and variably required molecular testing for full identification. Results (if a Case Study enter NA) N/A Conclusion Pathologists should be aware of the possibility of infection by multiple fungal species in burn wounds. Fungal morphology in tissue sections should allow for detection and distinction of mucormyctes and other hyaline molds. Histopathologic correlation with culture and/or PCR results is essential to distinguish potential contaminants from true infection.

scholarly journals Pulmonary benign metastasizing leiomyomas: a case series of 23 patients at a single facility

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Rong Fan ◽  
Fengzhi Feng ◽  
Hua Yang ◽  
Kaifeng Xu ◽  
Shanqing Li ◽  
...  
Keyword(s):  
Rare Disease ◽  
Single Case ◽  
Case Series ◽  
Progesterone Receptors ◽  
Complete Response ◽  
Gynecologic Surgery ◽  
Curative Surgery ◽  
College Hospital ◽  
First Choice ◽  
S 100

Abstract Background Pulmonary benign metastasizing leiomyoma (PBML) is a rare disease characterized by leiomyoma of benign histopathology existing in the lungs. Because of its rarity, limited literature with a single case or small number of cases has been regarding to the clinical course, pathology or management of PBML. Methods A retrospective study was performed of all PBML cases diagnosed and managed at Peking Union Medical College Hospital (PUMCH) from 2001 to 2019. The clinical characteristics, pathology, treatment and outcomes of each case were studied. Results There were 25 PBML patients identified in the 19-year period in PUMCH, and 23 patients’ data was analyzed. The median age at diagnosis was 46 years. There were 7 patients (30.4%) diagnosed with postmenopausal status. Two patients (8.7%) had no uterine leiomyoma, and 3 patients (13.0%) had no gynecologic surgery history. Immunohistochemistry of most lesions demonstrated positive for desmin, SMA and Estrogen/Progesterone Receptors; and negative for S-100 were shown in 7 cases. After curative or diagnostic surgeries for the PBML, several treatments from observation to medical or surgical castration were performed. Nine premenopausal patients preserved their ovaries at first. At a median follow-up of 8 years, 3 patients finally had oophorectomy. Conclusions PBML is a rare disease and should be treated by individualization according to the patients’ age, symptoms and extent of lesion. Curative surgery for patients with limited lesions can achieve the complete response. For patients that are young and asymptomatic, close observation is recommended as the first choice. All patients should undergo long-term surveillance.

Aggressive angiomyxoma of the female pelvis and perineum: a case series

2006 ◽  
Vol 16 (1) ◽  
pp. 396-401 ◽  
Author(s):  
P.M. MAGTIBAY ◽  
Z. SALMON ◽  
G.L. KEENEY ◽  
K.C. PODRATZ
Keyword(s):  
Case Series ◽  
Aggressive Angiomyxoma ◽  
Female Pelvis

scholarly journals A Case Series of Patients with Isolated IgG4-related Hypophysitis Treated with Rituximab

2020 ◽  
Vol 4 (6) ◽  
Author(s):  
Hessa Boharoon ◽  
James Tomlinson ◽  
Clara Limback-Stanic ◽  
Anastasia Gontsorova ◽  
Niamh Martin ◽  
...  
Keyword(s):  
Case Series ◽  
Disease Process ◽  
High Recurrence Rate ◽  
Sustained Remission ◽  
Mri Findings ◽  
Immunoglobulin G4 ◽  
Igg4 Related Disease ◽  
Anterior Pituitary Function ◽  
Pituitary Enlargement

Abstract Context The acute presentation of immunoglobulin G4 (IgG4)-related hypophysitis can be indistinguishable from other forms of acute hypophysitis, and histology remains the diagnostic gold standard. The high recurrence rate necessitates long-term immunosuppressive therapy. Rituximab (RTX) has been shown to be effective in systemic IgG4-related disease (IgG4-RD), but experience with isolated pituitary involvement remains limited. Case Description We report 3 female patients with MRI findings suggestive of hypophysitis. All patients underwent transsphenoidal biopsy and fulfilled diagnostic criteria for IgG4-related hypophysitis. Treatment with glucocorticoids (GCs) resulted in good therapeutic response in Patients 1 and 2, but the disease recurred on tapering doses of GCs. GC treatment led to emotional lability in Patient 3, necessitating a dose reduction. All 3 patients received RTX and Patients 2 and 3 received further courses of treatment when symptoms returned and B-cells repopulated. Patient 3 did not receive RTX until 12 months from the onset of symptoms. Patient 1 was not able to have further RTX treatments due to an allergic reaction when receiving the second dose. Rituximab treatment resulted in sustained remission and full recovery of anterior pituitary function in Patients 1 and 2, with complete resolution of pituitary enlargement. By contrast, Patient 3 only showed a symptomatic response following RTX treatment, but pituitary enlargement and hypofunction persisted. Conclusion Rituximab treatment for IgG4-related hypophysitis resulted in sustained remission in 2 patients treated early in the disease process but only achieved partial response in a patient with chronic disease, suggesting that early therapeutic intervention may be crucial in order to avoid irreversible changes.

Sign in / Sign up

Export Citation Format

Share Document