Shwachman's syndrome and leukaemia

Abstract

The clinical and morphological characteristics of Shwachman's syndrome (exocrine pancreatic insufficiency, pancytopenia, skeletal changes) were observed in a boy who, at the age of 8 years, developed a juvenile form of chronic myeloic leukemia which did not respond to cytostatic treatment. Autopsy revealed a striking lipomatous atrophy of the pancreas, defects in the ossification zones of the bones and marked dwarfism. In addition there was leukaemic infiltration of the pancreas, the spleen, the liver and the lymph nodes. The association of Shwachman's syndrome with leukaemia is a rare, but remarkable complication of this entity because of its relationship to the preceeding pancytopenia. Thorough follow-up of the haematological status of patients with Shwachman's syndrome is recommended.

Leukaemia‐related gene expression in bone marrow cells from patients with the preleukaemic disorder Shwachman–Diamond syndrome

“…The cumulative risk of AML increases with age and was reported to be 36% by the age 30 years (Donadieu et al, 2005). Although most leukaemias in SDS are AML (Mellink et al, 2004;Dror 2005), a few cases of acute lymphoblastic leukaemia have also been described (Gretillat et al, 1985) as well as one case of juvenile myelomonocytic leukaemia (Caselitz et al, 1979). Based on data from our laboratory (Majeed et al, 2005) and others' (Kuijpers et al, 2005), it seems that leukaemia is not confined to patients with SDS and rare SBDS genotypes.…”

Haematological abnormalities in Shwachman‐Diamond syndrome

“…Although neutropenia is one of the required diagnostic criteria for SDS, other haematological manifestations have been associated with this disorder. These include anaemia, raised fetal haemoglobin (HbF), thrombocytopenia, intermittent neutropenia, impaired neutrophil chemotaxis (Aggett et al, 1979;Ruutu et al, 1984;Azzara et al, 1991) and aplastic anaemia (Woods et al, 1981a), and, like other constitutional bone marrow failure syndromes there is a predilection to leukaemic transformation (Nezeloff & Watchi, 1961;Woods et al, 1981b;Stevens et al, 1978;Caselitz et al, 1979;Gretillat et al, 1985). No unifying pathogenetic mechanism(s) have been shown to be responsible for SDS.…”

Shwachman–Diamond Syndrome

“…Easy bruising may occur. Fatal bleeding while the patients had moderate to severe thrombocytopenia has also been reported (Nezelof & Watchi, 1961; Caselitz et al , 1979; Woods et al , 1981a; Gretillat et al , 1985; Okcu et al , 1998; Maserati et al , 2000).…”

“…Therefore, when we refer to malignant myeloid transformation in SDS, we mean stages beyond RC/CG – (RC without cytogenetic abnormalities): RC/CG + (RC with cytogenetic abnormalities), RCD, RCRS, RCEB or leukaemia. Forty such cases have been reported in SDS (Nezelof & Watchi, 1961; Huijgens et al , 1977; Strevens et al , 1978; Caselitz et al , 1979; Aggett et al , 1980; Woods et al , 1981a,b; Gretillat et al , 1985; MacMaster & Cummings, 1993; Seymour & Escudier, 1993; Kalra et al , 1995; Passmore et al , 1995; Smith et al , 1995, 1996; Arseniev et al , 1996; Mack et al , 1996; Davies et al , 1997; Dokal et al , 1997; Dror et al , 1998b; Okcu et al , 1998; Faber et al , 1999; Sokolic et al , 1999; Maserati et al , 2000; Spirito et al , 2000; Cesaro et al , 2001) (Table IV).…”