Paola Dal Cin, Ph.D.
Project Involvement: Tissue Core/Cytogenetics
I am a clinical cytogeneticist with a major interest and expertise in cancer genetics and cytogenetics. My primary responsibility (~85%) is diagnostic molecular and conventional cytogenetics of neoplasms in the Partners Clinical Cytogenetics Laboratory. This laboratory is located in the Center for Advanced Molecular Diagnosis in the Department of Pathology at the Brigham and Women’s Hospital. The remainder of my professional time involves translational research collaborations and teaching.
My clinical and research work have focused on the primary discovery of many of the characteristic chromosome aberrations in hematological and solid tumor malignancies, particularly soft tissue tumors. Identification of these genetic changes is critical in the differential diagnosis and clinical care of patients with such tumors. I developed and pioneered the method of collagenase treatment for tumor disaggregation (Limon J., Dal Cin P., Sandberg A., 1986), allowing assessment of the chromosome abnormalities in solid tumors. These methods allowed my colleagues and me to describe specific translocations in benign and malignant soft tissue tumors and, more importantly, to identify karyotypic features that permit discrimination of benign from malignant proliferations in the same tissue type. I was the first to describe many of the specific karyotypic changes which allowed discovery of the fusion genes and pathways in these abnormal cellular proliferations e.g. t(X;18) in synovial sarcoma, t(12;16) in myxoid liposarcoma, and more recently 8q12 in lipoblastoma, t(7;17) in endometrial stromal sarcoma, t(15;19) in midline carcinoma, t(16;17)in aneurysmal bone cysts, t(2;22) in clear cell sarcoma and in angiomatoid fibrous histiocytoma, t(11;16) in chondroid lipoma, and t(2;8) in alveolar rhabdomyosarcoma. In addition, my work has contributed to improve physiopathologic insights and clinically useful delineation of tumor entities, as well as identification of prognostic parameters. I have developed highly productive working relationships with faculty, residents, and researchers from many institutions both in the Longwood Medical Area and internationally. This body of work is described in my peer-reviewed publications (290) in the last 20 years.
During the decade beginning in 1988, I worked as a Senior Scientist at the Centre for Human Genetics of the University of Leuven, a large integrated centre with over 200 employees attracting many European, Asian, and U.S. post-graduate fellows in the various medical disciplines. My responsibilities included formal and practical teaching of clinical and molecular genetics of solid tumors. In 1999, I joined the Faculty of Medicine at Harvard as anAssociate Professor and I participate actively in teaching of students and post-graduate fellows. This includes lecturing in the HMS post-graduate courses, “Advances in Cytology” and “Bone and Soft Tissue Pathology for Surgical Pathologists”. I have delivered numerous invited lectures nationally and internationally. Locally, in the Longwood Medical Area, I have been active in the laboratory education of post-doctoral fellows enrolled in our American Board of Medical Genetics training program. I also teach pathology residents and molecular genetic pathology fellows from both BWH and MGH. I am the designated cytogeneticist responsible for coordinating a monthly Hematopathology-Cytogenetics conference at MGH, and have helped organize a corresponding initiative at BWH last year. In a similar capacity, I review all of the cytogenetic findings for cases presented at the weekly BWH Sarcoma Clinic Working Conference and the DFCI Oncology Pathology Conference. At the national level, I am responsible for reporting cytogenetic findings for patients enrolled in national clinical trials, such as the Cancer and Leukemia Group B (CALGB), Children's Oncology Group (COG) and Chronic Lymphocytic Leukemia Research Consortium (CLLRC). I am also involved in the introduction of new cytogenetic protocols into laboratory practice.
My professional efforts have fully integrated the tripartite mission of academic medical centers including laboratory diagnostic service, research collaborations, and the education of the next generation of medical scientists and clinicians. My discoveries of characteristic chromosomal rearrangements in solid tumors has had a large impact by allowing improved correlation with parameters such as tumor biology, tumor morphology and immunophenotype , and identification of appropriate targeted therapies. Further refinement of these chromosomal breakpoints using molecular techniques has led to development of contemporary diagnostic assays, principally FISH and RT-PCR now widely implemented in clinical laboratory diagnostic practice.