Mastery ·

Cytogenetics: Dr. Paola Dal Cin

. Her career reflects a profound blend of clinical excellence, academic leadership, and dedication to advancing cytogenetics education and collaborates internationally.

Dr. Paola Dal Cin's Profile

Full Name
Paola Dal Cin, PhD

Born
Not publicly documented

Alma Mater
Not explicitly stated in public records—currently Professor of Pathology at Harvard Medical School and lead cytogeneticist at Brigham and Women’s Hospital 

Notable Roles

  • Professor of Pathology, Harvard Medical School

  • ABMG-certified Clinical Cytogeneticist at Brigham and Women’s Hospital Cytogenetics Laboratory

  • Co‑Editor in Chief (Solid Tumor section), Atlas of Genetics and Cytogenetics in Oncology and Haematology 

Notable Publications

  • The marriage of Cytology and Cytogenetics (Cancer Cytopathology, 2013): discusses integration of cytology with cytogenetics in tumor diagnosis. 

  • Study on i(12p) in malignant ovarian tumor in Cancer Genetics and Cytogenetics (1990), contributing to tumor cytogenetics knowledge .

  • Co-author of Guiding the global evolution of cytogenetic testing for hematologic malignancies (Blood, 2022), representing international standards for cytogenetic assays.

Awards & Fellowships

  • While specific awards are not listed publicly, her >400 peer-reviewed publications, leadership roles in prestigious databases and journals, and international collaborations reflect recognition at the highest levels of clinical cytogenetics.

Philanthropy & Outreach

  • Public records do not show specific philanthropic or outreach programs led by Dr. Dal Cin. However, her role as co‑editor of the Atlas of Genetics and Cytogenetics, a free global educational resource, serves a significant philanthropic and scholarly mission to support clinicians, researchers, and students worldwide

 

Summary:

Category Details
Full Name Paola Dal Cin, PhD
Born Not publicly available
Alma Mater Not explicitly documented; currently at Harvard Medical School & BWH
Notable Roles Professor of Pathology (HMS); ABMG-certified cytogeneticist at BWH; Co‑Editor, Atlas of Genetics and Cytogenetics
Notable Publications “The marriage of Cytology and Cytogenetics” (2013); i(12p) in ovarian tumor (1990); Global cytogenetics testing guidance (2022)
Awards & Fellowships Over 400 peer-reviewed publications; international editorial leadership; respected cytogenetics expert
Philanthropy Strengthening global access to cancer cytogenetics information via Atlas resource

 

Tumors Characterized by Dr. Paola Dal Cin

Dr. Dal Cin conducted pioneering cytogenetic work on a diverse range of mesenchymal and soft tissue tumors, uterine neoplasms, and rare solid tumors—defining characteristic chromosomal rearrangements that refined diagnosis, classification, and understanding of tumor biology. Her contributions span diagnostics in liver hamartomas, fibrosarcomas, tenosynovial giant cell tumors, ovarian malignancies, uterine leiomyomata, and endometrial stromal sarcomas.

 

Characterization Table

Tumor Type Cytogenetic Findings Description & Significance
Mesenchymal hamartoma of liver Chromosomal abnormalities detected via karyotyping in hamartomatous liver lesions One of early descriptions of structural chromosomal changes in a benign liver tumor, clarifying pathogenesis 
Congenital fibrosarcoma Cytogenetic investigation of tumor karyotype in neonatal fibrosarcoma Documented chromosomal rearrangements in rare infant tumor, aiding classification 
Tenosynovial giant cell tumor (nodular tenosynovitis) Recurrent chromosomal aberrations defined in soft-tissue tumor Helped specify cytogenetic signature in joint-associated neoplasms, guiding diagnosis 
Malignant ovarian tumor Identification of isochromosome 12p [i(12p)] in ovarian carcinoma i(12p) has emerged as hallmark aberration in certain ovarian cancers, used diagnostically 
Uterine leiomyoma (fibroids) Genetic heterogeneity; deletions in 1p and t(12;14) subgroups Defined cytogenetic subtypes with distinct histology and molecular profiles 
Endometrial stromal sarcoma Frequent JAZF1–JJAZ1 fusion and YWHAE–FAM22 high-grade gene fusions Characteristic gene fusions in uterine stromal tumors clarified prognostic and therapeutic targets 
Spindle cell sarcomas (130-case CHAMP study) Karyotype correlations across sarcoma subtypes Provided large-scale clinicogenetic correlations, linking karyotype to pathology and outcomes

 

 

Why These Cytogenetic Discoveries Matter:

  • Diagnostic precision: Certain tumor types harbor specific chromosomal signatures (e.g., i(12p) in ovarian tumors, JAZF1–JJAZ1 fusion in stromal sarcomas).

  • Tumor classification: Cytogenetic profiles helped distinguish subtypes (e.g. leiomyoma variants).

  • Prognostic insight: Patterns within spindle-cell sarcomas correlated with clinical features.

  • Research foundation: Enabled subsequent molecular studies and improved pathology workflows.

 

References supporting Dr. Paola Dal Cin’s work on Tumor Cytogenetics:

  1. Dal Cin P, et al. “Cytogenetic characterization of tenosynovial giant cell tumor (nodular tenosynovitis).” Cancer Research 54(15):3986–3990 (1994). https://aacrjournals.org/cancerres/article/54/15/3986/500357

  2. Dal Cin P, et al. “Chromosomal abnormalities in mesenchymal hamartoma of the liver.” Cancer Genetics and Cytogenetics 64(2):143–147 (1993). https://lib.ugent.be/en/catalog/pug01:3034484

  3. Dal Cin P, et al. “Cytogenetic studies in congenital fibrosarcoma.” Cancer Genetics and Cytogenetics 46(2):211–215 (1990). https://lib.ugent.be/en/catalog/pug01:6912777

  4. Dal Cin P, et al. “Isochromosome 12p in malignant ovarian tumor.” Cancer Genetics and Cytogenetics 48(1):43–46 (1990). https://lib.ugent.be/en/catalog/pug01:3025200

  5. Mäkinen N, Mehine M, Tolvanen J, et al. “MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.” Science 334(6053):252–255 (2011). (Includes cytogenetic correlations.) 

  6. Goebel EA, et al. “Cytogenetic and molecular studies of endometrial stromal sarcomas.” Oncotarget 7(26):39864–39873 (2016). 

  7. Dal Cin P, et al. “Clinicopathologic and cytogenetic analysis of 130 cases of soft tissue spindle cell sarcomas (CHAMP study).” Cancer Genetics and Cytogenetics 168(1):53–65 (2006). 

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