A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature

Carlos A Tirado; Rodrigo Hurtado; Joy King; Krystal Eastwood; M Teresa Guardiola; Ari Rao

A Highly Complex Hyperdiploid Karyotype in a Patient with MDS: A Case Report and Review of the Literature

J Assoc Genet Technol. 2023;49(2):79-87.

Authors

Carlos A Tirado^{1

2

3}, Rodrigo Hurtado¹, Joy King², Krystal Eastwood², M Teresa Guardiola², Ari Rao^{2

3}

Affiliations

¹ "The International Circle of Genetic Studies" Project, USA.
² Baylor Scott and White Health System, Department of Pathology, Temple, TX, USA.
³ Renaissance School of Medicine, Department of Pathology, Stony Brook, NY, USA.

PMID: 37269317

Abstract

We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22. Also, additional material of unknown origin was found on 3q, 5p, 9p, 11p, 13p, 14p, and 15p; there were two copies of 19p, a deletion of 8q, and numerous unidentified rings and markers were present. This was characterized as: 75~77,XXX,+1,der(1;6)(p10;p10),add(3)(q27),+4,add(5)(p15.1),+6,+8,del(8)(q24.1),+add(9)(p24),-11,add (11) (p13),-13,add(13)(p10),add(14)(p11.2),-15,add(15)(p11.2), -16,-17,+19,add(19)(p13.3)x2,+20,-22, +0~4r,+4~10mar[cp11]/46,XX[8]. The cytogenetic analysis correlates with the concurrent FISH study which was positive for additional signals of EVI1(3q26.2), TAS2R1 (5p15.31), EGR1 (5q31.2), RELN (7q22), TES (7q31) RUNX1T1 (8q21.3), ABL1 (9q34), KMT2A (11q23), PML (15q24.1), CBFB (16q22), RARA (17q21), PTPRT (20q12), MYBL2 (20q13.12), RUNX1 (21q22.12) and BCR (22q11.2). Hyperdiploid karyotypes within the context of complex structural abnormalities are rare events usually associated with a poor prognosis in MDS.