Severe Eosinophilia in Myelodysplastic Syndrome With a Defined and Rare Cytogenetic Abnormality

Abstract

Myelodysplastic syndromes (MDS) are a heterogeneous group clonal disorders of hematopoietic stem cells (HSC) characterized by ineffective hematopoiesis that lead to variable grades of impaired blood cell production. Chromosomal aberrations are often detected in MDS patients and thus cytogenetic analysis is useful for the diagnosis of these disorders. Common recurring chromosomal defects, such as the −5/5q- and −7/7q- are relatively well characterized cytogenetic abnormalities in MDS, however, the biological significance of uncommon cytogenetic alterations is unknown. We report here, two cases of peripheral blood and bone marrow hypereosinophilia in patients with MDS harboring the unbalanced translocation der(1;7)(q10;p10), a poorly characterized cytogenetic abnormality that is found in certain myeloid malignancies, including MDS. The patients reported here presented hypereosinophilia that was refractory to steroids and cytotoxic therapy, leading to severe target tissue damage that ultimately resulted in fatal end-organ failure. Potential roles of the der(1;7)(q10;p10) aberrations in the pathogenesis of aggressive eosinophilia and disease prognosis are discussed here.

Pancytopenia, eosinophilia and coagulation disorders in a patient with T‐acute lymphoblastic leukemia in prolonged remission

“…Moreover, a significant correlation of MDS-Eos with chromosome 7 abnormalities, i(17p) and complex karyotype was demonstrated. 4 In line with this observation, two case reports of peripheral blood and bone marrow hypereosinophilia in patients with MDS harboring the unbalanced translocation der(1;7) (q10;p10) 5 and a ring chromosome 7 6 have been published. Another study demonstrated that 29/322 patients with MDS (9.0%) had or developed eosinophilia (≥10% of peripheral blood cells), whereas eosinophilia ≥20% was observed in 2.5%.…”

“…The BM biopsy revealed myelodysplastic features with fibrosis and mastocytic infiltration consistent with systemic mastocytosis (SM), as concluded by the presence of clusters of spindlelike cells, which were ckit+, tryptase+, CD25+ (Figure1). Monosomy 7 was demonstrated by bone marrow conventional cytogenetic analysis (45, XY, −7[5]/45, X, -Y[8]/46, XY[7]). The absence of the corresponding lesions in conventional cytogenetic analysis obviated the need for molecular assays to exclude PDGFRB, FGFR1, and PCM1-JAK2 rearrangements.…”

The multidisciplinary approach to eosinophilia

“…A proportion of cases may thus be contextualized within the MLN-TK or CEL groups, and perhaps be of therapeutic relevance. Casuistic reports of MPN or MDS presenting as iHES, reflecting a diagnostic overlap may not represent a pathophysiologic continuum ( 199 ). Rather, the reports reflect the complexity of establishing a strict classification in the chronic myeloid neoplasms with eosinophilia.…”

The der(1;7)(q10;p10) defining a distinct profile from −7/del(7q) in myelodysplastic syndromes: A systematic review and meta‐analysis

“…12 Among MDS with der(1;7), some are therapy-related MDS (t-MDS), in varying proportions. Occasionally, rare phenotypes have been linked to this translocation, including MDS with eosinophilia (12 cases) 7,[13][14][15][16][17] and organizing pneumonia (4 cases). 14,18 Studies have studied clinical features of der(1;7) by comparing them with those of −7/del(7q), which also involves monosomy 7q and occurs in around 10% of MDS cases predicting poor prognosis.…”

“… 12 Among MDS with der(1;7), some are therapy‐related MDS (t‐MDS), in varying proportions. Occasionally, rare phenotypes have been linked to this translocation, including MDS with eosinophilia (12 cases) 7 , 13 , 14 , 15 , 16 , 17 and organizing pneumonia (4 cases). 14 , 18 …”