Metachronic Breast and Cerebellar Neoplasm in a Young Patient

Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype o...

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Bibliographic Details
Published in:	Revista Brasileira de ginecologia e obstetrícia Vol. 42; no. 2; pp. 114 - 119
Main Authors:	Nascimento, Jéssika de Oliveira, Haro, Lara Caroline Anastacio, Sá, Rafael da Silva, Storch, Rebeca Espelho
Format:	Journal Article
Language:	English
Published:	Brazil Thieme Revinter Publicações Ltda 01-02-2020 Federação Brasileira das Sociedades de Ginecologia e Obstetrícia
Subjects:	Adenocarcinoma, Mucinous - diagnosis Adenocarcinoma, Mucinous - genetics Adenocarcinoma, Mucinous - pathology Adult breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Breast Neoplasms - pathology carcinoma mucinous mammary Case Report Cerebellar Neoplasms - diagnosis Cerebellar Neoplasms - diagnostic imaging Cerebellar Neoplasms - genetics Cerebellar Neoplasms - pathology Combined Modality Therapy Diagnosis, Differential Female Humans Li-Fraumeni syndrome Li-Fraumeni Syndrome - diagnosis Li-Fraumeni Syndrome - genetics Magnetic Resonance Imaging Medulloblastoma - diagnosis Medulloblastoma - diagnostic imaging Medulloblastoma - genetics Medulloblastoma - pathology medulloblastoma desmoplastic Neoplasms, Multiple Primary - diagnosis Neoplasms, Multiple Primary - genetics Neoplasms, Multiple Primary - pathology OBSTETRICS & GYNECOLOGY carcinoma mucinoso mamário síndrome de Li-Fraumeni meduloblastoma desmoplásico câncer de mama medulloblastoma desmoplastic breast cancer carcinoma mucinous mammary Li-Fraumeni syndrome
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Summary:	Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0100-7203 1806-9339 1806-9339
DOI:	10.1055/s-0040-1701456