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Arupa Ganguly, Ph.D

Arupa Ganguly, Ph.D

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Professor of Genetics at the Hospital of the 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 Clinical Expertise

As the Director of the Genetic Diagnostic laboratory, Department of Genetics, I provide clinical molecular genetic testing services for hereditary forms of colon cancer, Li Fraumeni syndrome,Retinoblastoma(RB) and molecular profiling of sporadic uveal mealnoma, Hemophilia A, and Herediatry Hemorrhagic Telangiectasia (HHT or Osler Weber Rendu Syndrome). This laboratory is a reference laboratory for testing RB, HHT and Hemophilia A in the US.
This laboratory is also an ABMG accredited laboratory for training clinical molecular genetics fellows.

In addition, I am involved in a collaboration with Dr, Charles Stanley, Children's Hospital of Philadelphia, to undertsand the molecular genetics of congenital hyperinsulinism (CHI). We have recently identified a novel genomic region linked to autosomal dominant inheritance of CHI.

Selected Publications

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 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.

Azary Saeedeh, Ganguly Arupa, Bunin Greta R, Lombardi Christina, Park Andrew S, Ritz Beate, Heck Julia E: Sporadic Retinoblastoma and Parental Smoking and Alcohol Consumption before and after Conception: A Report from the Children's Oncology Group. PloS one 11(3): e0151728, 2016.

Lombardi Christina, Ganguly Arupa, Bunin Greta R, Azary Saeedeh, Alfonso Vivian, Ritz Beate, Heck Julia E: Maternal diet during pregnancy and unilateral retinoblastoma. Cancer causes & control : CCC 26(3): 387-97, Mar 2015.

Ayari-Jeridi Hajer, Moran Kimberly, Chebbi Amel, Bouguila Hédi, Abbes Imen, Charradi Khaoula, Benammar-Elgaaïed Amel, Ganguly Arupa: Mutation Spectrum of RB1 Gene in Unilateral Retinoblastoma Cases from Tunisia and Correlations with Clinical Features. PloS one 10(1): e0116615, 2015.

Heck Julia E, Omidakhsh Negar, Azary Saeedeh, Ritz Beate, von Ehrenstein Ondine S, Bunin Greta R, Ganguly Arupa: A case-control study of sporadic retinoblastoma in relation to maternal health conditions and reproductive factors: a report from the Children's Oncology group. BMC cancer 15: 735, 2015.

Ewens Kathryn G, Kanetsky Peter A, Richards-Yutz Jennifer, Purrazzella Juliana, Shields Carol L, Ganguly Tapan, Ganguly Arupa: Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma. Investigative ophthalmology & visual science 55(8): 5160-7, Aug 2014.

McEvoy Justina, Nagahawatte Panduka, Finkelstein David, Richards-Yutz Jennifer, Valentine Marcus, Ma Jing, Mullighan Charles, Song Guangchun, Chen Xiang, Wilson Matthew, Brennan Rachel, Pounds Stanley, Becksfort Jared, Huether Robert, Lu Charles, Fulton Robert S, Fulton Lucinda L, Hong Xin, Dooling David J, Ochoa Kerri, Mardis Elaine R, Wilson Richard K, Easton John, Zhang Jinghui, Downing James R, Ganguly Arupa, Dyer Michael A: RB1 gene inactivation by chromothripsis in human retinoblastoma. Oncotarget 5(2): 438-50, Jan 2014.

Chen Zhao, Moran Kimberly, Richards-Yutz Jennifer, Toorens Erik, Gerhart Daniel, Ganguly Tapan, Shields Carol L, Ganguly Arupa: Enhanced Sensitivity for Detection of Low-Level Germline Mosaic RB1 Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing. Human mutation 35(3): 384-91, Nov 2013.

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Last updated: 10/10/2016
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