Format

Send to

Choose Destination
Virchows Arch. 2018 Dec;473(6):775-779. doi: 10.1007/s00428-018-2420-3. Epub 2018 Aug 31.

Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation.

Author information

1
Department of Pathology, AC Camargo Cancer Center, Rua Professor Antônio Prudente 211, São Paulo, 01509-900, Brazil. isabela.werneck@rededor.com.br.
2
National Institute for Science and Technology in Oncogenomics and Therapeutic Innovation, São Paulo, Brazil. isabela.werneck@rededor.com.br.
3
Department of Pathology, Rede D'OR-São Luiz, São Paulo, Brazil. isabela.werneck@rededor.com.br.
4
Department of Urology, AC Camargo Cancer Center, São Paulo, Brazil.
5
Department of Pathology, AC Camargo Cancer Center, Rua Professor Antônio Prudente 211, São Paulo, 01509-900, Brazil.
6
Department of Pathology, Rede D'OR-São Luiz, São Paulo, Brazil.
7
National Institute for Science and Technology in Oncogenomics and Therapeutic Innovation, São Paulo, Brazil.
8
Department of Oncogenetics, AC Camargo Cancer Center, São Paulo, Brazil.

Abstract

Renal cell carcinoma (RCC) accounts for 2-3% of all malignant disease in adults. Hereditary RCC represents 5 to 8% of kidney tumors. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) represents an autosomal dominant syndrome that results from a germline mutation in fumarate hydratase gene (FH). HLRCC patients typically present with skin or uterine leiomyomas and renal neoplasms. HLRCC was recently recognized as a distinct renal tumor subtype by the WHO 2016 classification. Many morphological patterns such as papillary, solid, tubular, and cystic had been described as part of morphological aspects of HLRCC. In this study, we describe a case of a patient that had a history of persistence of ductus arteriosus (PDA) and cryptorchidism. In addition, the renal tumor showed a very unusual hystiocytoid morphological aspect. We confirmed the presence of a FH germline mutation both in the patient and his mother.

KEYWORDS:

Fumarate hydratase; Renal neoplasms; Uterine leiomyomas

PMID:
30171332
DOI:
10.1007/s00428-018-2420-3
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center