Arupa Ganguly

faculty photo
Professor of Genetics at the Hospital of the University of Pennsylvania
Director, Genetic Diagnostic Laboratory, University of Pennsylvania
Department: Genetics

Contact information
415 Anatomy Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104
Office: 215-898-3122
Fax: 215-573-5940
Lab: 215-573-3020
B.S. (Physics)
Calcutta University, 1974.
M.S. (Physics)
Calcutta University, 1977.
Ph.D. (Biophysics)
University of Calcutta, 1984.
FACMG (Clinical Molecular Genetics)
American Board of Medical Genetics, 1999.
FACMG (Clinical Molecular Genetics)
American Board of Medical Genetics, 2009.
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Description of Research Expertise

Genetic Analysis of Predisposition to Retinoblastoma and Uveal Melanoma

Retinoblastoma is a childhood onset ocular cancer caused by mutations in tumor suppressor gene, RB1, present on chromosome 13.
RB1 was the first tumor suppressor gene identified and validated the two hit hypothesis of cancer proposed by Alfred Knudson. The burden of lost eye sight in early childhood is very high with this disease – it has been reduced remarkably in the developed countries, but still is a major concern in developing countries.
Thus there is a need to reduce the burden of blindness by developing treatment modality that will spare the infant eye and vision.

An interesting aspect of RB1 is that this gene is inactivated in half of all known cancer. Yet an individual born with a germline mutation in RB1 gene is predisposed to childhood onset eye tumor and a second cancer that can be osteosarcoma if exposed to radiation or melanoma. This means that the RB1 gene product has a very specific role in the development of the retina – a role that is not shared by other tissues.
However the cell of origin of retinoblastoma is not known. Therefore by studying the gene expression profile of enucleated retinoblastoma tumors we are attempting to answer a few clinical questions like the clinical response to different treatment options, potential for metastasis and molecular basis of other predictive clinical features. In addition we are trying to identify the expression profiles of genes characteristic of the progenitor cells for retina and define at which stage of retinal cell development does the process of tumorigenesis begin.

Another recent direction of research is in defining the molecular basis of uveal melanoma. Uveal melanoma is a rare form of ocular cancer in the Western world and the incidence rate is 1 in 100, 000. A significant observation is that almost half of all identified cases of uveal melanoma develop liver metastasis and die within a very short period after the initial diagnosis. Thus it is a major health care issue. The only prognostic features available at this time are monosomy for chromosome 3 along with alterations on chromosomes 1, 6 and 8 and are associated with bad prognosis. These features suggest an underlying genetic predisposition towards melanomas. Uveal melanoma can be mistaken for congenital nevi and may be undiagnosed or under diagnosed. The goals of this project are: i) To develop a gene signature that will be predictors of metastasis based on investigations on fine needle aspirates. ii) To understand the molecular mechanisms regulating the development of uveal melanomas.

Description of Itmat Expertise

Dr. Ganguly focuses on the genomics of ocular tumors, specifically, retinoblastoma and uveal melanoma, translating basic science findings to clinical molecular genetic tests.

Selected Publications

Vaquero-Garcia Jorge, Lalonde Emilie, Ewens Kathryn G, Ebrahimzadeh Jessica, Richard-Yutz Jennifer, Shields Carol L, Barrera Alejandro, Green Christopher J, Barash Yoseph, Ganguly Arupa: PRiMeUM: A Model for Predicting Risk of Metastasis in Uveal Melanoma. Investigative ophthalmology & visual science 58(10): 4096-4105, Aug 2017.

Shields Carol L, Say Emil Anthony T, Hasanreisoglu Murat, Saktanasate Jarin, Lawson Brendan M, Landy Jeffrey E, Badami Anjali U, Sivalingam Meera D, Mashayekhi Arman, Shields Jerry A, Ganguly Arupa: Cytogenetic Abnormalities in Uveal Melanoma Based on Tumor Features and Size in 1059 Patients: The 2016 W. Richard Green Lecture. Ophthalmology 124(5): 609-618, May 2017.

Omidakhsh Negar, Ganguly Arupa, Bunin Greta R, von Ehrenstein Ondine S, Ritz Beate, Heck Julia E: Residential Pesticide Exposures in Pregnancy and the Risk of Sporadic Retinoblastoma: A Report From the Children's Oncology Group. American journal of ophthalmology 176: 166-173, Apr 2017.

Ewens Kathryn G, Bhatti Tricia R, Moran Kimberly A, Richards-Yutz Jennifer, Shields Carol L, Eagle Ralph C, Ganguly Arupa: Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. Cancer medicine 6(3): 619-630, Mar 2017.

Ferrara Christine T, Boodhansingh Kara E, Paradies Eleonora, Giuseppe Fiermonte, Steinkrauss Linda J, Topor Lisa Swartz, Quintos Jose Bernardo, Ganguly Arupa, De Leon Diva D, Palmieri Ferdinando, Stanley Charles A: Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2. The Journal of clinical endocrinology and metabolism 102(3): 942-949, Mar 2017.

Aggarwala Varun, Ganguly Arupa, Voight Benjamin F: De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. BMC genomics 18(1): 155, Feb 2017.

Rao Raksha, Pointdujour-Lim Renelle, Ganguly Arupa, Shields Carol L: MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION. Retinal cases & brief reports Oct 2016.

Marwaha Nitin, Batanian Jacqueline R, Coppens Jeroen R, Pierson Matthew J, Richards-Yutz Jennifer, Ebrahimzadeh Jessica, Ganguly Arupa, Guzman Miguel A: Subcutaneous melanocytoma mimicking a lipoma: a rare presentation of a rare neoplasm with histological, immunohistochemical, cytogenetic and molecular characterization. Journal of cutaneous pathology 43(12): 1186-1196, Aug 2016.

Bhatti Tricia R, Ganapathy Karthik, Huppmann Alison R, Conlin Laura, Boodhansingh Kara E, MacMullen Courtney, Becker Susan, Ernst Linda M, Adzick N Scott, Ruchelli Eduardo D, Ganguly Arupa, Stanley Charles A: Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect. The Journal of clinical endocrinology and metabolism 101(3): 914-22, Mar 2016.

Kalish Jennifer M, Boodhansingh Kara E, Bhatti Tricia R, Ganguly Arupa, Conlin Laura K, Becker Susan A, Givler Stephanie, Mighion Lindsey, Palladino Andrew A, Adzick N Scott, De León Diva D, Stanley Charles A, Deardorff Matthew A: Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. Journal of medical genetics 53(1): 53-61, Jan 2016.

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Last updated: 09/04/2017
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