Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.

Familial Cancer
Francesca GensiniLaura Papi

Abstract

We present a 24-year-old female patient affected by neurofibromatosis type 1 (NF1) who developed a malignant phyllodes tumor of the breast. The molecular studies showed that the patient carried a heterozygous inactivating deleterious variant in BRCA1 inherited from the father associated with a germline de novo pathogenic alteration in NF1; the tumor presented a biallelic inactivation of both genes. Therefore, tumor analyses helped to establish that the germline NF1 and BRCA1 variants were in cis on the paternal chromosome. This last information is important to provide adequate genetic counselling regarding the risk of recurrence in the offspring, as well as opportunity for early intervention. In conclusion, we present the first case of a malignant phyllodes tumor of the breast in patient carrying pathogenic variants in NF1 and BRCA1. Further studies will be necessary to understand if the phyllodes histotype represents a very rare component of NF1-associated breast cancer.

References

Jun 12, 2002·Current Treatment Options in Oncology·S A Khan, S Badve
Sep 10, 2002·Gynecologic Oncology·Marcello CeccaroniGiovanni Scambia
Apr 23, 2004·American Journal of Medical Genetics. Part a·Cheryl M CoffinKaren Albritton
Jun 19, 2007·Cancer Genetics and Cytogenetics·Kerstin RhiemRita Katharina Schmutzler
Apr 30, 2013·Breast Cancer Research and Treatment·Berta CamposOrland Díez
Jan 7, 2014·Frontiers in Bioscience (Landmark Edition)·Arindam Paul, Soumen Paul
Dec 4, 2014·The Breast : Official Journal of the European Society of Mastology·Esther Molina-MontesMaría-José Sánchez
Mar 6, 2015·British Journal of Cancer·O O Seminog, M J Goldacre
Feb 18, 2017·Breast Cancer Research and Treatment·Sahar NozadJon H Chung
Jun 21, 2017·JAMA : the Journal of the American Medical Association·Karoline B KuchenbaeckerHåkan Olsson
Feb 27, 2018·Handbook of Clinical Neurology·Patrick J Cimino, David H Gutmann

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Citations

Jul 24, 2021·Annals of Surgical Oncology·Jessica BogachNicole J Look Hong

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Software Mentioned

Sequencing Analysis
Gene Mapper

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