Blastoid Variant of Cyclin D1-Negative Mantle Cell Lymphoma in a Female Patient with 46,XY Disorder of Sex Development: A Rare Case Report

This paper documents a case report of a rare aggressive variant of Cyclin D1-negative mantle cell lymphoma combined with a congenital anomaly, one of the 46,XY disorders of sex development (DSD). In an elderly female patient aged 71 years, histological and immunohistochemical analyses of the bone marrow revealed a diffuse infiltration of atypical CD5-positive Cyclin D1-negative lymphoid cells with blastoid morphology expressing SOX11 as well as high proliferative index Ki-67 ≤ 70 %. In the cytogenomic profile of the tumor, the translocation t(11;14)(q13;q32) CCND1::IGH was not identified, however, it was marked by multiple clonal chromosome abnormalities including the deletion of the 17p13/TP53 locus and the involvement of the 14q32/IGH locus in the translocation with an unidentified partner. At the same time, the ХY(SRY+) gonosomal complement was detected in the patient’s bone marrow cells, peripheral blood lymphocytes, and buccal epithelial cells, enabling, for the first time, to diagnose a congenital anomaly classified as a 46,XY DSD. Despite chemotherapy (4 VR-CAP cycles and Bruton tyrosine kinase inhibitors), rapid progression of the underlying disease led to the patient’s death. The paper reports diagnostic and clinical features of Cyclin D1-negative mantle cell lymphoma and discusses a possible relationship between DSD and some hematologic tumors.

• Natalia Vyacheslavovna Oparina AS Loginov Moscow Clinical Scientific Center, 1 Novogireevskaya ul., Moscow, Russian Federation, 111123 ; BV Petrovskii National Surgery Research Center, 2 Abrikosovskii per., Moscow, Russian Federation, 119991 https://orcid.org/0000-0001-8662-4794 (unauthenticated)
• T.V. Davidian BV Petrovskii National Surgery Research Center, 2 Abrikosovskii per., Moscow, Russian Federation, 119991 https://orcid.org/0009-0007-6133-8987 (unauthenticated)
• E.A. Mamaeva Kommunarka Moscow Multispecialty Clinical Center, 8 korp. 3 Sosenskii Stan ul., Moscow, Russian Federation, 108814 https://orcid.org/0000-0002-6350-2847 (unauthenticated)
• N.G. Chernova Kommunarka Moscow Multispecialty Clinical Center, 8 korp. 3 Sosenskii Stan ul., Moscow, Russian Federation, 108814 ; Russian Medical Academy of Postgraduate Education, 2/1 Barrikadnaya ul., Moscow, Russian Federation, 125993 https://orcid.org/0000-0002-0827-4052 (unauthenticated)
• L.A. Tsapkova AS Loginov Moscow Clinical Scientific Center, 1 Novogireevskaya ul., Moscow, Russian Federation, 111123 https://orcid.org/0000-0002-7206-8691 (unauthenticated)
• N.A. Bodunova AS Loginov Moscow Clinical Scientific Center, 1 Novogireevskaya ul., Moscow, Russian Federation, 111123 https://orcid.org/0000-0002-3119-7673 (unauthenticated)

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