FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma

Logara Klarić, Monika; Marić, Tihana; Žunić, Lucija; Trgovec-Greif, Lovro; Rokić, Filip; Fiolić, Ana; Merkler Šorgić, Ana; Ježek, Davor; Vugrek, Oliver; Jakovčević, Antonia; Barbalić, Maja; Belužić, Robert; Katušić Bojanac, Ana (2024) FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma. Genes, 15 (6). ISSN 2073-4425

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Abstract

Azoospermia is a form of male infertility characterized by a complete lack of spermatozoa in the ejaculate. Sertoli cell-only syndrome (SCOS) is the most severe form of azoospermia, where no germ cells are found in the tubules. Recently, FANCM gene variants were reported as novel genetic causes of spermatogenic failure. At the same time, FANCM variants are known to be associated with cancer predisposition. We performed whole-exome sequencing on a male patient diagnosed with SCOS and a healthy father. Two compound heterozygous missense mutations in the FANCM gene were found in the patient, both being inherited from his parents. After the infertility assessment, the patient was diagnosed with diffuse astrocytoma. Immunohistochemical analyses in the testicular and tumor tissues of the patient and adequate controls showed, for the first time, not only the existence of a cytoplasmic and not nuclear pattern of FANCM in astrocytoma but also in non-mitotic neurons. In the testicular tissue of the SCOS patient, cytoplasmic anti-FANCM staining intensity appeared lower than in the control. Our case report raises a novel possibility that the infertile carriers of FANCM gene missense variants could also be prone to cancer development.

Item Type:	Article
Uncontrolled Keywords:	non-obstructive azoospermia; male infertility; SCOS syndrome; FANCM; astrocytoma; cancer
Subjects:	BIOMEDICINE AND HEALTHCARE BIOMEDICINE AND HEALTHCARE > Basic Medical Sciences
Divisions:	Division of Molecular Medicine
Projects:	Project title Project leader Project code Project type Znanstveni centar izvrsnosti za reproduktivnu i regenerativnu medicinu – istraživanja novih platormi i potencijala-CERRM Siniša Volarević; Slobodan Vukičević; Davor Ježek KK.01.1.1.01.0008 EK Integrirani test za identifikaciju genetskih promjena koje uzrokuju neplodnost-Genom-IGT Oliver Vugrek KK.01.2.1.01.0113 EK
Depositing User:	Ivana Vuglec
Date Deposited:	13 Oct 2025 08:41
URI:	http://fulir.irb.hr/id/eprint/9999
DOI:	10.3390/genes15060707

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