A rare case of familial multiple subcutaneous lipomatosis with novel PALB2 mutation and increased predilection to cancers

Neelesh Reddy; Baswantrao Malipatil; Satish Kumar

doi:10.1016/j.hemonc.2016.01.001

A rare case of familial multiple subcutaneous lipomatosis with novel PALB2 mutation and increased predilection to cancers

Hematol Oncol Stem Cell Ther. 2016 Dec;9(4):154-156. doi: 10.1016/j.hemonc.2016.01.001. Epub 2016 Jan 27.

Authors

Neelesh Reddy¹, Baswantrao Malipatil², Satish Kumar³

Affiliations

¹ Department of Medical Oncology, Columbia Asia Referral Hospital, Yeshwantpur, Bangalore, India.
² Department of Medical Oncology, Columbia Asia Referral Hospital, Yeshwantpur, Bangalore, India. Electronic address: [email protected].
³ Department of Clinical Hematology, Columbia Asia Referral Hospital, Yeshwantpur, Bangalore, India.

PMID: 26845227
DOI: 10.1016/j.hemonc.2016.01.001

Abstract

We describe the association of familial multiple subcutaneous lipomatosis with a PALB2 gene mutation (c.2716delT) and its increased predilection to cancers.

Keywords: Cancer; Familial multiple subcutaneous lipomatosis; PALB2.

Publication types

Case Reports

MeSH terms

Adult
Base Sequence
DNA Mutational Analysis
Fanconi Anemia Complementation Group N Protein
Female
Genetic Predisposition to Disease*
Humans
Lipomatosis / genetics*
Male
Mutation / genetics*
Nuclear Proteins / genetics*
Pedigree
Subcutaneous Tissue / pathology*
Tumor Suppressor Proteins / genetics*

Substances

Fanconi Anemia Complementation Group N Protein
Nuclear Proteins
PALB2 protein, human
Tumor Suppressor Proteins