case_images: PMC11002154_01
case_images: Case 1. (A), The bone marrow demonstrates dyserythropoiesis (red arrows), dysgranulopoiesis (green arrows) and increased blasts (blue arrow). Wright-Giemsa stain, 400 X magnification. (B), The bone marrow shows dysmegakaryopoiesis (purple arrow). Wright-Giemsa stain, 400 X magnification. (C, D), Karyotyping performed on the marrow reveals a complex karyotype with evidence of clonal evolution. (C), The stemline is 45,XY, dic(5;17)(q11.2;p11.2). (D), Clonal evolution to a complex karyotype 50,XY,+2,dic(5;17)(q11.2;p11.2);+6,add(6)(p21)x2,+8,+11,add(14)(p11.2),+18.
case_images: fonc-14-1364199-g001.jpg
case_images: PMC11002154_01_fonc-14-1364199-g001.jpg
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case_images: Marrow examination confirmed myelodysplastic neoplasm (with biallelic TP53 inactivation, germline TP53 LP variant, post cytotoxic therapy) ( Figures 1A, B ).  Table 2  Cytogenetic analysis revealed a complex karyotype with dicentric chromosomes 5 and 17 ( Figures 1C, D ).
case_images: PMC11002154_02
case_images: Case 2. (A) The bone marrow shows markedly hypercellular marrow with no dysplasia or increase in blasts. Wright-Giemsa stain, 1600 X magnification. (B, C), Karyotyping of the bone marrow reveals two unrelated clones 45,XX,del(5)(q31),der(14;17)(q10;q10)[3]/45,XX,der(5;17)(p10;q10),-7,+8[6]/46,XX[15]. The larger clone (B) shows monosomy 7, trisomy 8 and an unbalanced whole arm translocation of 5p and 17q. The latter results in loss of 5q and 17p. The smaller clone (C) shows deleted 5q and an unbalanced translocation of 14q and 17q with resultant loss of 17p.
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case_images: PMC11002154_02_fonc-14-1364199-g002.jpg
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case_images: The marrow examination revealed myelodysplastic neoplasm (with biallelic TP53 inactivation, germline TP53 LP variant, post cytotoxic therapy) ( Figure 2A ), ( Table 2 ) which was evidenced by cytogenetic abnormalities including 5q loss, monosomy 7 and 17p loss ( Figures 2B, C ).
case_images: PMC11002154_03
case_images: Case 3. (A), The bone marrow demonstrates dysgranulopoiesis (green arrow) and increase in blasts (blue arrow). Wright-Giemsa stain, 400 X magnification. (B), The bone marrow also demonstrates dysmegakaryopoiesis (purple arrow). Wright-Giemsa stain, 400 X magnification. (C) Karyotyping reveals a clone with monosomy 7. (D), The trephine biopsy shows non-hemic cellular infiltration. Hematoxylin & Eosin stain, 200 X magnification. Immunohistochemical staining shows the abnormal infiltration is positive for synaptophysin (E) and chromogranin (F), and negative for NeuN (G), which is compatible with marrow involvement by medulloblastoma. 200 X magnification.
case_images: fonc-14-1364199-g003.jpg
case_images: PMC11002154_03_fonc-14-1364199-g003.jpg
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case_images: Marrow examination revealed acute myeloid leukemia (myelodysplasia-related, post cytotoxic therapy), with blasts constituting 23% of all cells through multiparametric flow cytometry, increased myeloblasts comprising >20% of nucleated cells in the trephine biopsy ( Figures 3A, B ),  Table 2  and monosomy 7 by cytogenetic analysis ( Figure 3C ). A repeated marrow examination at 3 months from diagnosis of MDS showed marrow involvement by medulloblastoma ( Figure 3D ) positive for synaptophysin ( Figure 3E ) and chromogranin ( Figure 3F ), and negative for NeuN ( Figure 3G ).