Genomes and Genes
Gail H Vance
Affiliation: Indiana University
- College of american pathologists proposal for the oversight of laboratory-developed testsGail H Vance
Department of Medical and Molecular Genetics, Indiana University Medical Center, 975 Walnut St, IB 264, Indianapolis, IN 46202, USA
Arch Pathol Lab Med 135:1432-5. 2011..Modifications to the proposal continue while the laboratory community awaits release of the guidance documents that will stipulate FDA requirements...
- Genetic heterogeneity in HER2 testing in breast cancer: panel summary and guidelinesGail H Vance
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Arch Pathol Lab Med 133:611-2. 2009..The presence of HER2 genetic heterogeneity may increase subjectivity in HER2 interpretation by the pathologist...
- Utility of interphase FISH to stratify patients into cytogenetic risk categories at diagnosis of AML in an Eastern Cooperative Oncology Group (ECOG) clinical trial (E1900)Gail H Vance
Medical and Molecular Genetics, Indiana University School of Medicine, 975 W Walnut Street IB 264, Indianapolis, IN 46202, USA
Leuk Res 31:605-9. 2007....
- Chronic myelomonocytic leukemia: The role of bone marrow biopsy immunohistologyAttilio Orazi
Clarian Pathology Laboratory, Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202 5200, USA
Mod Pathol 19:1536-45. 2006..Although CD42b immunostaining facilitated the detection of dwarf megakaryocytes often present in CMML, the distinction between those and the small forms seen in chronic myelogenous leukemia was still problematic...
- Glioblastoma occurring at the site of a previous medulloblastoma following a 5-year remission periodSarah E Martin
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
Neuropathology 32:543-50. 2012..The relationship between these two tumors, particularly with regard to various molecular events, is discussed...
- A report of three patients with an interstitial deletion of chromosome 15q24Lisa J Cushman
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, USA
Am J Med Genet A 137:65-71. 2005..Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings...
- Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicismApril L Hall
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
Genet Med 15:729-32. 2013..Cell-free fetal DNA testing analyzes DNA derived from placental trophoblast cells and can lead to incorrect results that are not representative of the fetus...
- Luminal subtypes predict improved survival following central nervous system metastasis in patients with surgically managed metastatic breast carcinomaAndrea L Wiens
From the Department of Pathology and Laboratory Medicine Drs Wiens, Martin, Bertsch, Cheng, Badve, and Hattab and the Department of Medical and Molecular Genetics Dr Vance and Mr Stohler, Indiana University School of Medicine, Indianapolis
Arch Pathol Lab Med 138:175-81. 2014..Very little is known about predictive or prognostic variables once patients develop CNS metastases. Currently, therapeutic options are limited, with surgery generally offered primarily to those with solitary lesions...
- Interphase FISH demonstrates that human adipose stromal cells maintain a high level of genomic stability in long-term cultureBrenda R Grimes
Department of Medical and Molecular Genetics, Cytogenetics Division, Indiana University School of Medicine, 975 W Walnut Street, Indianapolis, IN 46202, USA
Stem Cells Dev 18:717-24. 2009....
- AML1-FOG2 fusion protein in myelodysplasiaEdward M Chan
Division of Hematology Oncology, Department of Medicine, Indiana University School of Medicine, 1044 W Walnut St, R4 202, Indianapolis, IN 46202 5254, USA
Blood 105:4523-6. 2005..These results suggest a central role for CtBP in AML1-FOG2 transcriptional repression and implicate coordinated disruption of the AML1 and GATAdevelopmental programs in the pathogenesis of myelodysplasia...
- Detection of recurrent cytogenetic abnormalities in acute lymphoblastic and myeloid leukemias using fluorescence in situ hybridizationGail H Vance
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
Methods Mol Biol 999:79-91. 2013..This chapter will discuss FISH methodology as practiced in the cancer cytogenetic laboratory...
- Fluorescence in situ hybridization (FISH) as an aid for the diagnosis of graft-versus-host disease in two multivisceral organ transplant patientsChristiane Machado
Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA
Am J Dermatopathol 35:496-502. 2013..This report adds to the previous publications showing the utility of FISH in corroborating the diagnosis of graft-versus-host disease in transplant patients with unmatched sex donor...
- Establishment and characterization of a novel cell line derived from human thymoma AB tumorYesim Gokmen-Polar
Department of Medicine, Indiana University School of Medicine, Walther Hall, 980W Walnut Street, C230, IN 46202, USA
Lab Invest 92:1564-73. 2012..The established cell line represents a biologically relevant new tool to investigate the molecular pathology of thymic malignancies and to evaluate the efficacy of novel therapeutics both in vitro and in vivo...
- Phenotypic variability in trisomy 13 mosaicism: two new patients and literature reviewChristopher B Griffith
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202 5251, USA
Am J Med Genet A 149:1346-58. 2009....
- Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndromeChristopher B Griffith
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
Am J Med Genet A 149:2484-8. 2009..While severe genital anomalies have been reported rarely in patients with Simpson-Golabi-Behmel syndrome, no individuals with such anomalies prior to this report had survived beyond the neonatal period...
- Chronic lymphocytic leukemia/small lymphocytic lymphoma with trisomy 12 and focal cyclin d1 expression: a potential diagnostic pitfallDennis P O'Malley
Department of Pathology, Division of Hematopathology, Indiana University School of Medicine, Indianapolis 46202, USA
Arch Pathol Lab Med 129:92-5. 2005..Focal cyclin D1 expression by immunohistochemistry in nodal CLL/SLL is quite unusual and is discussed as a potential diagnostic pitfall...
- Most primary central nervous system diffuse large B-cell lymphomas occurring in immunocompetent individuals belong to the nongerminal center subtype: a retrospective analysis of 31 casesEyas M Hattab
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Mod Pathol 23:235-43. 2010..Regardless of the germinal center status, all cases showed a high proliferative rate. A statistically significant difference in the overall survival between the two groups was not seen...
- A case of de novo partial tetrasomy of distal 6p and review of the literatureRyan Stohler
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202 5251, USA
Am J Med Genet A 143:1978-83. 2007..We compare here this case with previously reported cases of partial trisomy 6p and the resulting phenotypes...
- Update on late relapse of germ cell tumor: a clinical and molecular analysisDavid W George
Department of Medicine, and Section of Hematology Oncology, Herman B Wells Center for Pediatric Research, Indiana University Medical Center, Indianapolis, IN, USA
J Clin Oncol 21:113-22. 2003..Analysis of patients with late relapse (LR) of germ cell tumor (GCT) with reports on clinical characteristics, outcomes, and molecular and cytogenetic features...
- Signet-ring cell lymphoma: clinicopathologic, immunohistochemical, and fluorescence in situ hybridization studies of 7 casesShanxiang Zhang
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN Electronic address
Ann Diagn Pathol 26:38-42. 2017..Although it was initially reported as a rare morphologic variant of follicular lymphoma (FL), SRCL has to date been described in most types of non-Hodgkin lymphoma, mostly as single-case reports...
- Acute panmyelosis with myelofibrosis: an entity distinct from acute megakaryoblastic leukemiaAttilio Orazi
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202 5200, USA
Mod Pathol 18:603-14. 2005..01 with CD42b). Our results confirm that histology supplemented by immunohistochemistry permits the distinction of these conditions in routinely processed bone marrow biopsies...
- Large cell carcinoma of the lung mimicking a germ cell tumor: the potential value of chromosome analysisSyed M Ahmed
Department of Internal Medicine, Indiana University School of Medicine, Indianapolis, IN, USA
Lung Cancer 49:271-4. 2005
- Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemiaAnna C Pulliam-Leath
Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, IN, USA
Blood 116:2915-20. 2010..Importantly, this model closely recapitulates the phenotypes found in FA patients and may be useful as a preclinical platform to evaluate the molecular pathogenesis of spontaneous bone marrow failure, MDS and AML in FA...
- Molecular genetic tests for FLT3, NPM1, and CEBPA in acute myeloid leukemiaQing Zhang
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
Methods Mol Biol 999:105-21. 2013..We describe both fragment length assay and sequencing methods for mutational analysis of these three genes...
- Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7Esperanza Font-Montgomery
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA
Birth Defects Res A Clin Mol Teratol 73:577-82. 2005..This publication is a follow-up report of the postnatal clinical outcome of the first prenatally suspected case of combined mosaic trisomy 7 with maternal uniparental disomy of chromosome 7 (UPD7)...
- Acute graft-versus-host disease of the lung after liver transplantationKenneth S Knox
Department of Medicine, Pulmonary Division, Indiana University School of Medicine, Indianapolis, IN, USA
Liver Transpl 8:968-71. 2002..High-dose corticosteroids were given with a return to baseline pulmonary function. The current case should alert clinicians to investigate pulmonary GVHD as a potential cause of postoperative dyspnea in liver transplant recipients...
- Partial trisomy 2q: report of a patient with dup (2)(q33.1q35)Courtney Drake Sebold
Genetic Counseling Program, Department of Analytical and Diagnostic Sciences, College of Allied Health Sciences, University of Cincinnati, Cincinnati, Ohio, USA
Am J Med Genet A 134:80-3. 2005..In contrast to most reported individuals with trisomy 2q, this patient demonstrates only mild developmental delays. We compare our findings with other case reports of partial trisomy 2q...
- Proficiency testing for laboratories performing fluorescence in situ hybridization with chromosome-specific DNA probesJames T Mascarello
Genetic Services, Children s Hospital, San Diego, Calif 92123, USA
Arch Pathol Lab Med 126:1458-62. 2002....
- American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancerAntonio C Wolff
American Society of Clinical Oncology, Alexandria, VA, USA
J Clin Oncol 25:118-45. 2007..To develop a guideline to improve the accuracy of human epidermal growth factor receptor 2 (HER2) testing in invasive breast cancer and its utility as a predictive marker...
- Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for yearsArthur R Brothman
Department of Pediatrics and Human Genetics, University of Utah School of Medicine, Salt Lake City, USA
Arch Pathol Lab Med 130:947-9. 2006..Cytogenetic heteromorphisms (normal variants) pose diagnostic dilemmas. Common Giemsa-band heteromorphisms are not described in the literature, although Giemsa-banding is the method most frequently used in cytogenetic laboratories...
- Characterization of gains, losses, and regional amplification in testicular germ cell tumor cell lines by comparative genomic hybridizationOctavian Henegariu
Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06510, USA
Cancer Genet Cytogenet 148:14-20. 2004....
- Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected]James T Mascarello
Genzyme Genetics, Santa Fe, New Mexico 87505, USA
Genet Med 5:370-7. 2003..To assess the extent and the sources of variation in ISCN nomenclature used by participants in CAP/ACMG surveys dealing with fluorescence in situ hybridization (FISH)...
- Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL): analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trialAnthony V Moorman
Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of Southampton, Southampton General Hospital, Southampton, UK
Blood 109:3189-97. 2007....