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152. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

Author

Ali Dursun, Asli Soydas, R. Köksal Özgül, Mansukhani Mahesh, James A. Knowles, Tugba Tugrul, Alpay Celiker, Jane H. Morse, Aytemiz Gurgey, and Robyn J. Barst

Subjects
Proband, Male, medicine.medical_specialty, Hypertension, Pulmonary, G6PC3, Germline mosaicism, Neutropenia, Heart Septal Defects, Atrial, Pathology and Forensic Medicine, Monocytosis, Internal medicine, medicine, Humans, Sibling, Genetics (clinical), Heart septal defect, business.industry, Infant, General Medicine, Leukopenia, Syndrome, medicine.disease, Pediatrics, Perinatology and Child Health, Cardiology, Pectus carinatum, Female, Anatomy, business
Abstract

We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband also had bilateral inguinal hernias and undescended testes. The same findings in two siblings suggest a genetic cause--either an autosomal recessive disorder or germline mosaicism in one parent for a dominant mutation. Investigations revealed a bone morphogenetic protein receptor 2 polymorphism in intron 4 in only one sibling, which was also present in unaffected maternal relatives.

Published
2008

153. Identification of rare Epstein-Barr virus infected memory B cells and plasma cells in non-monomorphic post-transplant lymphoproliferative disorders and the signature of viral signaling

Author

Shaknovich, R., Basso, Katia, Bhagat, Govind, Mansukhani, Mahesh M., Hatzivassiliou, G., Vundavalli, Murty V., Niedobitek, G., Alobeid, Bachir, and Cattoretti, Giorgio

Subjects
Lymphoproliferative disorders, Cellular signal transduction, Plasma cells, B cells, hemic and lymphatic diseases, Epstein-Barr virus, Latent virus diseases
Abstract

Background and Objectives. In early and polymorphic post-transplant lymphoprolifera- tive disorders (PTLD) Epstein-Barr virus (EBV), through its latency proteins, drives the proliferation of B lymphocytes, a process which in immunocompetent individuals leads to the establishment of latently infected memory B cells. Design and Methods. We analyzed 11 cases, which included early and polymorphic PTLD, and 12 controls for latency of EBV infection and their antigenic profile. Results. We identified a minority of terminally differentiated EBER+ IRTA1+ memory B cells and EBER+ CD138+ PRDM1+ plasma cells in these samples. These elements were identified both in PTLD and in tumor-free tonsils from post-transplant patients but not in EBV– control tonsils. The expression of EBV latency proteins is heterogeneous, and is associated with activation of the NF-κB pathway. EBV signaling (through EBNA2, LMP1 and LMP2A) and NF-κB activation correlated with upregulation of target proteins: cMYC, JunB, CCL22, TRAF1 and IRF4. EBV-infected lymphocytes in early and polymor- phic PTLDs represent a mixture of latencies II, III and, in at least 1/3 of infected cells, of latency 0. Interpretation and conclusions. EBV infection correlates with NF-κB activation, with EBV-dependent cell signaling, and lastly, with the presence of EBV-infected plasma cells and memory cells. Key words: post-transplant lymphoproliferative disorder, Epstein-Barr virus, viral latency, NF-κB signaling, plasma cell, memory B cell.

Published
2006
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154. Promoter Hypermethylation of FANCF: Disruption of Fanconi Anemia-BRCA Pathway in Cervical Cancer

Author

Narayan, Gopeshwar, Arias-Pulido, Hugo, Nandula, Subhadra, Basso, Katia, Sugirtharaj, Dorcas D., Vargas, Hernan, Mansukhani, Mahesh M., Villella, Jeannine, Meyer, Larissa, Schneider, Achim, Gissmann, Lutz, Dürst, Matthias, Pothuri, Bhavana, and Vundavalli, Murty V.

Subjects
BRCA genes, Epigenetics, Genomics, Cervix uteri--Cancer, Fanconi's anemia
Abstract

Patients with advanced stage invasive cervical cancer (CC) exhibit highly complex genomic alterations and respond poorly to conventional treatment protocols. In our efforts to understand the molecular genetic basis of CC, we examined the role of Fanconi Anemia (FA)-BRCA pathway. Here, we show that FANCF gene is disrupted by either promoter hypermethylation and/or deregulated gene expression in a majority of CC. Inhibition of DNA methy- lation and histone deacetylases induces FANCF gene re-expression in CC cell lines. FANCF-deregulated CC cell lines also exhibit a chromosomal hyper- sensitivity phenotype after exposure to an alkylating agent, a characteristic of FA patients. We also show the involvement of BRCA1 gene by promoter hypermethylation or down-regulated expression in a small subset of CC patients. Thus, we have found inactivation of genes in the FA-BRCA pathway by epigenetic alterations in a high proportion of CC patients, suggesting a major role for this pathway in the development of cervical cancer. Thus, these results have important implications in understanding the molecular basis of CC tumorigenesis and clinical management in designing targeted experimen- tal therapeutic protocols.

Published
2004
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155. Renal oncocytomas with 11q13 rearrangements: cytogenetic, molecular, Abstract and immunohistochemical analysis of cyclin D1

Author

Jhang, Jeffrey S., Narayan, Gopeshwar, Vundavalli, Murty V., and Mansukhani, Mahesh M.

Subjects
Cytogenetics, Kidneys--Diseases, Fluorescence in situ hybridization, urologic and male genital diseases, Immunohistochemistry, Overexpression (Genetics)
Abstract

Two groups of renal oncocytomas have been cytogenetically defined by the loss of one or both of chromosomes Y and 1 or by structural rearrangement involving 11q12~q13. We report five renal oncocytomas with structural chromosomal rearrangements involving 11q13 with previously unre- ported partner chromosomes (namely, 1, 6, and 7). For two of the five cases, a t(6;11)(p21;q13) translocation was revealed; the others had t(1;11)(p13;q13), t(7;11)(q11.2;q13), and t(5;11)(q35; q13). Fluorescence in situ hybridization confirmed translocation of CCND1 at 11q13 to partner chromosomes 5, 6, and 7. Overexpression of cyclin D1, the protein product of CCND1, was detected in three of the five cases (60%) by means of immunohistochemical staining of formalin-fixed, paraffin- embedded tumor sections. In three cases for which fresh tissue was available, Southern blot analysis using the MDL-5 probe for the BCL1 breakpoint did not reveal rearrangement of BCL1. In addition, six consecutive renal oncocytomas diagnosed at our institution between 1999 and 2002 whose karyotypes did not show 11q13 translocations were all negative for cyclin D1 overexpression under immunohistochemical analysis. The findings of CCND1 rearrangement with FISH and correlation with cyclin D1 overexpression under immunohistochemical analysis suggest that cyclin D1 alter- ations play a role in the subset of renal oncocytomas with 11q translocations, although other genes may also be involved.

Published
2004
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158. Bladder cancers arise from distinct urothelial sub-populations

Author

Van Batavia, Jason, primary, Yamany, Tammer, additional, Molotkov, Andrei, additional, Dan, Hanbin, additional, Mansukhani, Mahesh, additional, Batourina, Ekaterina, additional, Schneider, Kerry, additional, Oyon, Daniel, additional, Dunlop, Mark, additional, Wu, Xue-Ru, additional, Cordon-Cardo, Carlos, additional, and Mendelsohn, Cathy, additional

Published
2014
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159. Molecular testing guidelines for lung adenocarcinoma: Utility of cell blocks and concordance between fine-needle aspiration cytology and histology samples

Author

Heymann, Jonas J., primary, Bulman, William A., additional, Maxfield, Roger A., additional, Powell, Charles A., additional, Halmos, Balazs, additional, Sonett, Joshua, additional, Beaubier, Nike T., additional, Crapanzano, John P., additional, Mansukhani, Mahesh M., additional, and Saqi, Anjali, additional

Published
2014
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162. Mapping the Sites of Putative Tumor Suppressor Genes at 6p25 and 6p21.3 in Cervical Carcinoma: Occurrence of Allelic Deletions in Precancerous Lesions

Author

Chatterjee, Anupam, Arias-Pulido, Hugo, Koul, Sanjay, Beleño, Nestor, Perilla, Ana, Posso, Hector, Mansukhani, Mahesh M., and Vundavalli, Murty V.

Subjects
Carcinogenesis, FOS: Biological sciences, Genetics, Cervix uteri--Cancer
Abstract

Allelic deletions on the short arm of chromosome 6 (6p) are one of the common, possibly early, genetic changes that occur in the pathogenesis of cervical carcinoma (CC). Previous loss of heterozygosity (LOH) studies in CC identified a number of critical regions of deletions on 6p. However, the precise location of minimally deleted regions and their role in precancer- ous lesions have not been well characterized. To address these questions, we first performed a detailed LOH analysis on 6p in 59 cases of invasive CC. The pattern of LOH identified two minimal regions of deletions, one spanning a 5 cM genetic distance at 6p25 and a second site of 10.3 cM deletion mapping to 6p21.3. The 6p21.3 minimal deletion spans HLA class I genes. To understand the role of 6p genetic alterations in the develop- ment of CC, we also investigated 12 high-grade and 4 low-grade cases of cervical intraepithelial neoplasia (CIN) for LOH after laser microdissec- tion. The high-grade CINs exhibited 91.7% LOH, and low-grade CINs had 50% LOH. These findings implicate the presence of at least two tumor suppressor genes on 6p relevant to CC and suggest that these genetic alterations occur very early in CC development. This study should there- fore facilitate the identification of tumor suppressor genes on 6p and may identify which CINs are at high risk of progressing to invasive CC.

Published
2001
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164. Common Mutations in BRCA1 and BRCA2 Do Not Contribute to Early Prostate Cancer in Jewish Men

Author

Nastiuk, Kent L., Mansukhani, Mahesh, Terry, Mary Beth, Kularatne, Piyumika, Rubin, Mark A., Melamed, Jonathan, Gammon, Marilie D., Ittmann, Michael, and Krolewski, John J.

Subjects
Adult, BRCA2 Protein, Genetic Markers, Male, Genotype, Incidence, Genes, BRCA1, Prostatic Neoplasms, Exons, Middle Aged, Article, Introns, Neoplasm Proteins, Europe, Jews, Humans, New York City, Germ-Line Mutation, Sequence Deletion, Transcription Factors
Abstract

Families with a high incidence of hereditary breast cancer, and subsequently shown to have terminating mutations in BRCA1 or BRCA2, appear to have a higher incidence of prostate cancer among male relatives. We aimed to determine whether the common germline mutations of BRCA1 or BRCA2 in Ashkenazi Jewish men predisposed them to prostate cancer.We examined genomic DNA from 83 (for BRCA1 185delAG) or 82 (for BRCA2 6174delT) Ashkenazi Jewish prostate cancer patients, most of whom were treated at a relatively young age, for the most common germline mutation in each gene seen in the Ashkenazi population.Our study should have been able to detect a 4-5-fold increase in the risk of prostate cancer due to mutation of BRCA1 or BRCA2. However, only one (1.15%; 95% confidence interval, 0-3.6%) of the patients was heterozygous for the BRCA1 mutant allele, and only two were heterozygous for the BRCA2 mutation (2.4%; 95% confidence interval, 0-6.2%).The incidence of each of the germline mutations in these prostate cancer patients closely matched their incidence (about 1%) in the general Ashkenazi Jewish population. This suggests that unlike cases of breast and ovarian cancers, mutations in BRCA1 or BRCA2 do not significantly predispose men to prostate cancer.

Published
1999

171. Mutation in an mtDNA Protein-Coding Gene

Author

Shanske, Sara, primary, Naini, Ali, additional, Chmait, Ramen H., additional, Akman, Hasan O., additional, Mansukhani, Mahesh, additional, Lu, Jiesheng, additional, Hirano, Michio, additional, and DiMauro, Salvatore, additional

Published
2012
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174. PAX8 and PAX2 Immunostaining Facilitates the Diagnosis of Primary Epithelial Neoplasms of the Male Genital Tract

Author

Tong, Guo-Xia, primary, Memeo, Lorenzo, additional, Colarossi, Cristina, additional, Hamele-Bena, Diane, additional, Magi-Galluzzi, Cristina, additional, Zhou, Ming, additional, Lagana, Stephen M., additional, Harik, Lara, additional, Oliver-Krasinski, Jennifer M., additional, Mansukhani, Mahesh, additional, Falcone, Lorenzo, additional, Hibshoosh, Hanina, additional, and O’Toole, Kathleen, additional

Published
2011
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177. Associations between Polycyclic Aromatic Hydrocarbon–Related Exposures andp53Mutations in Breast Tumors

Author

Mordukhovich, Irina, primary, Rossner, Pavel, additional, Terry, Mary Beth, additional, Santella, Regina, additional, Zhang, Yu-Jing, additional, Hibshoosh, Hanina, additional, Memeo, Lorenzo, additional, Mansukhani, Mahesh, additional, Long, Chang-Min, additional, Garbowski, Gail, additional, Agrawal, Meenakshi, additional, Gaudet, Mia M., additional, Steck, Susan E., additional, Sagiv, Sharon K., additional, Eng, Sybil M., additional, Teitelbaum, Susan L., additional, Neugut, Alfred I., additional, Conway-Dorsey, Kathleen, additional, and Gammon, Marilie D., additional

Published
2010
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180. Protocadherin PCDH10, involved in tumor progression, is a frequent and early target of promoter hypermethylation in cervical cancer

Author

Narayan, Gopeshwar, primary, Scotto, Luigi, additional, Neelakantan, Vijayalakshmi, additional, Kottoor, Sherine H., additional, Wong, Ada Ho Yan, additional, Loke, Shee-Loong, additional, Mansukhani, Mahesh, additional, Pothuri, Bhavana, additional, Wright, Jason D., additional, Kaufmann, Andreas M., additional, Schneider, Achim, additional, Arias-Pulido, Hugo, additional, Tao, Qian, additional, and Murty, Vundavalli V., additional

Published
2009
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183. Diagnostic Assay Based on hsa-miR-205 Expression Distinguishes Squamous From Nonsquamous Non–Small-Cell Lung Carcinoma

Author

Lebanony, Danit, primary, Benjamin, Hila, additional, Gilad, Shlomit, additional, Ezagouri, Meital, additional, Dov, Avital, additional, Ashkenazi, Karin, additional, Gefen, Nir, additional, Izraeli, Shai, additional, Rechavi, Gideon, additional, Pass, Harvey, additional, Nonaka, Daisuke, additional, Li, Junjie, additional, Spector, Yael, additional, Rosenfeld, Nitzan, additional, Chajut, Ayelet, additional, Cohen, Dalia, additional, Aharonov, Ranit, additional, and Mansukhani, Mahesh, additional

Published
2009
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185. Mutations in p53, p53 protein overexpression and breast cancer survival

Author

Rossner Jr, Pavel, primary, Gammon, Marilie D., additional, Zhang, Yu-Jing, additional, Terry, Mary Beth, additional, Hibshoosh, Hanina, additional, Memeo, Lorenzo, additional, Mansukhani, Mahesh, additional, Long, Chang-Min, additional, Garbowski, Gail, additional, Agrawal, Meenakshi, additional, Kalra, Tara S., additional, Gaudet, Mia M., additional, Teitelbaum, Susan L., additional, Neugut, Alfred I., additional, and Santella, Regina M., additional

Published
2008
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186. Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha

Author

Scotto, Luigi, primary, Narayan, Gopeshwar, additional, Nandula, Subhadra V, additional, Subramaniyam, Shivakumar, additional, Kaufmann, Andreas M, additional, Wright, Jason D, additional, Pothuri, Bhavana, additional, Mansukhani, Mahesh, additional, Schneider, Achim, additional, Arias-Pulido, Hugo, additional, and Murty, Vundavalli V, additional

Published
2008
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187. Identification of copy number gain and overexpressed genes on chromosome arm 20q by an integrative genomic approach in cervical cancer: Potential role in progression

Author

Scotto, Luigi, primary, Narayan, Gopeshwar, additional, Nandula, Subhadra V., additional, Arias-Pulido, Hugo, additional, Subramaniyam, Shivakumar, additional, Schneider, Achim, additional, Kaufmann, Andreas M., additional, Wright, Jason D., additional, Pothuri, Bhavana, additional, Mansukhani, Mahesh, additional, and Murty, Vundavalli V., additional

Published
2008
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188. TREK-1 Is a Novel Molecular Target in Prostate Cancer

Author

Voloshyna, Iryna, primary, Besana, Alessandra, additional, Castillo, Mireia, additional, Matos, Tulio, additional, Weinstein, I. Bernard, additional, Mansukhani, Mahesh, additional, Robinson, Richard B., additional, Cordon-Cardo, Carlos, additional, and Feinmark, Steven J., additional

Published
2008
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191. Gene dosage alterations revealed by cDNA microarray analysis in cervical cancer: Identification of candidate amplified and overexpressed genes

Author

Narayan, Gopeshwar, primary, Bourdon, Veronique, additional, Chaganti, Seeta, additional, Arias-Pulido, Hugo, additional, Nandula, Subhadra V., additional, Rao, Pulivarthi H., additional, Gissmann, Lutz, additional, Dürst, Matthias, additional, Schneider, Achim, additional, Pothuri, Bhavana, additional, Mansukhani, Mahesh, additional, Basso, Katia, additional, Chaganti, R. S. K., additional, and Murty, Vundavalli V., additional

Published
2007
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195. Phase II Study of Neoadjuvant Androgen Deprivation Followed by External-Beam Radiotherapy With 9 Months of Androgen Deprivation for Intermediate- to High-Risk Localized Prostate Cancer

Author

Heymann, Jonas J., primary, Benson, Mitchell C., additional, O'Toole, Kathleen M., additional, Malyszko, Bozena, additional, Brody, Rachel, additional, Vecchio, Darleen, additional, Schiff, Peter B., additional, Mansukhani, Mahesh M., additional, and Ennis, Ronald D., additional

Published
2007
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196. Practical diagnostic approaches to composite plasma cell neoplasm and low grade B-cell lymphoma/clonal infiltrates in the bone marrow.

Author

Hussein, Shafinaz, Gill, Kamraan, Baer, Lea N., Hoehn, Daniela, Mansukhani, Mahesh, Jobanputra, Vaidehi, Bhagat, Govind, and Alobeid, Bachir

Abstract

Composite plasma cell neoplasm (PCN) and low grade B-cell lymphoma (B-NHL) in the bone marrow are uncommon and raise the differential diagnosis of B-NHL with plasmacytic differentiation and PCN with lymphoplasmacytic morphology. This can be a challenging differential diagnosis, and the distinctions are important because of differences in management. We report five cases of composite PCN with B-NHL or clonal B-cell infiltrates involving the bone marrow. By using multiple different diagnostic modalities, including immunophenotyping by flow cytometry and immunohistochemistry, cytogenetic analysis and IGH gene rearrangement studies by polymerase chain reaction, we were able to distinguish two distinct clonally unrelated neoplasms in all cases. We describe the utility and pitfalls of these different diagnostic modalities. Flow cytometric analysis with a panel of antibodies that includes CD19, CD56, CD138, CD45 and other aberrant markers commonly expressed by PCN will allow identification of clonally unrelated PCN and B-NHL in a composite neoplasm, and distinguish them from B-NHL with plasmacytic differentiation and PCN with lymphoplasmacytic morphology. Cytogenetic and molecular analyses can give false-negative or false-positive results. In summary, a multimodal approach utilizing these different tools, including clinical data, should be used to arrive at the correct diagnosis. Copyright © 2014 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2015
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197. Cytomorphological features of ALK-positive lung adenocarcinomas: Psammoma bodies and signet ring cells.

Author

Pareja, Fresia, Crapanzano, John P., Mansukhani, Mahesh M., Bulman, William A., and Saqi, Anjali

Abstract

BACKGROUND Correlation between histology and genotype has been described in lung adenocarcinomas. For example, studies have demonstrated that adenocarcinomas with an anaplastic lymphoma kinase ( ALK) gene rearrangement may have mucinous features. The objective of the current study was to determine whether a similar association can be identified in cytological specimens. METHODS A retrospective search for ALK-rearranged cytopathology (CP) and surgical pathology (SP) lung carcinomas was conducted. Additional ALK-negative (-) lung adenocarcinomas served as controls. For CP and SP cases, the clinical data (i.e., age, sex, and smoking history), architecture, nuclear features, presence of mucin-containing cells (including signet ring cells), and any additional salient characteristics were evaluated. RESULTS The search yielded 20 ALK-positive (+) adenocarcinomas. Compared with patients with ALK(-) lung adenocarcinomas (33 patients; 12 with epidermal growth factor receptor [ EGFR]-mutation, 11 with Kristen rat sarcoma [ KRAS]-mutation, and 10 wild-type adenocarcinomas), patients with ALK(+) adenocarcinoma presented at a younger age; and there was no correlation noted with sex or smoking status. The most common histological pattern in SP was papillary/micropapillary. Mucinous features were associated with ALK rearrangement in SP specimens. Signet ring cells and psammoma bodies were evident in and significantly associated with ALK(+) SP and CP specimens. However, psammoma bodies were observed in rare adenocarcinomas with an EGFR mutation. Both the ALK(+) and ALK(−) groups had mostly high nuclear grade. CONCLUSIONS Salient features, including signet ring cells and psammoma bodies, were found to be significantly associated with ALK(+) lung adenocarcinomas and are identifiable on CP specimens. Recognizing these may be especially helpful in the molecular triage of scant CP samples. Cancer (Cancer Cytopathol) 2014. © 2014 American Cancer Society. Cancer (Cancer Cytopathol) 2015;123:162-170. © 2014 American Cancer Society. [ABSTRACT FROM AUTHOR]

Published
2015
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