Beckwith–Wiedemann Syndrome
Dongyou Liu in Handbook of Tumor Syndromes, 2020
According to previously published data, there are at least three factors that potentially influence the risk of tumor development. First, some clinical phenotypes are associated with increased tumor risk such as hemihyperplasia, nephromegaly, and presence of nephrogenic rests [3]. Approximately 20%–25% of BWS patients with hemihyperplasia had tumors [78,79], and the tumor risk in patients with isolated hemihyperplasia may be as high as 20% [80,81]. Hemihyperplasia is common in children with UPD; when compared to non-UPD cases, those with UPD are also more likely to have tumors [19]. Second, since UPD shows a mosaic molecular pattern, higher degree of UPD expression therefore corresponds to a more severe phenotype including tumor predisposition. Itoh et al. have shown that organomegaly was associated with the tissue-specific proportion of UPD cells. They found a strikingly higher degree of 11p15.5 UPD mosaicism in the enlarged left adrenal gland when compared to the non-enlarged right adrenal gland [82]. Hence it is theoretically plausible that the risk is even more significant in BWS patients with UPD who have a high level of mosaicism and concomitant hemihyperplasia. Third, many publications have supported that tumor risk is higher when the molecular defects involve the telomeric domain (ICR1 hypermethylation and UPD) rather than in the centromeric domain (ICR2 hypomethylation and CDKN1C mutation). This emphasizes the role of IGF2 and H19 in tumorigenesis in BWS (see Pathogenesis).
Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
John T. Kemshead in Pediatric Tumors: Immunological and Molecular Markers, 2020
Nephroblastomatosis — nodular renal blastema — is a histologically benign lesion frequently associated with Wilms’ tumor91,92 and is considered to be a premalignant condition. Heidemann et al.93 reported a child who presented with bilateral nephromegaly and eventually developed Wilms’ tumor. Chromosome analysis of nodular renal blastema taken from this patient demonstrated a deletion of 11p11-p14.2. The sample analyzed was taken from an area remote from the tumor and histological examination revealed no recognizable tumor components. These observations lend further support to the view that deletion from the 11p13 region is an important predisposing event in the development of Wilms’ tumor.
Carnitine-acylcarnitine translocase deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Hepatomegaly is a regular occurrence in this disease, and size tends to increase with time. Hepatic failure has also been recorded [2, 14]. In one patient, there was nephromegaly. Histologic examination of the liver may reveal massive macrovascular steatosis (Figures 36.3 and 36.4) [2, 3], as well as some fibrosis. Muscle histology has been normal. Mental development and growth have been normal [1], but most of these patients have died in infancy. One patient [10] developed microcephaly. Terminal episodes in most were cardiorespiratory failure and cardiac arrhythmia. In one, there was a pulmonary hemorrhage and death at eight days of life [3].
Transformation of CMML to AML presenting with acute kidney injury
Published in Journal of Community Hospital Internal Medicine Perspectives, 2020
Rebecca DeBoer, Ian Garrahy, Andrew Rettew, Robert Libera
One cause for glomerular dysfunction is direct infiltration of the kidneys by blasts which can cause enlarged kidneys as a sign of leukemic infiltration [8] which most commonly occurs in AML with monocytic differentiation, like our patient. This particular AML subtype predisposes patients to granulocytic sarcomas, or chloromas, which are both terms used to describe an extramedullary tumor occurring in soft tissue or bone with the presence of atypical myeloid or monocytic blast cells [9]. The presence of renal leukemic involvement is extremely rare about 1%, although there are a few reported cases of renal failure secondary to diffuse bilateral infiltration [10]. In our case, there was no reported nephromegaly on CT imaging.
Budd Chiari syndrome associated with AL amyloidosis: a coagulation paradox
Published in Amyloid, 2018
Guilherme Grossi Lopes Cançado, Luciana Costa Faria, Fernanda Maria Farage Osório, Paula Vieira Teixeira Vidigal, Cláudia Alves Couto, Teresa Cristina de Abreu Ferrari
A 55-year-old woman presented with weight loss of 25 kg in 12 months, high liver enzymes in a cholestatic pattern – gamma glutamyltransferase: 1672 U/L (upper normal limit [UNL]: 43 U/L), alkaline phosphatase: 296 U/L (UNL: 126 U/L), aminotransferases AST: 45 U/L [UNL: 46 U/L] and ALT: 40 U/L [UNL: 69 U/L]), seric albumin: 2.24 g/dL, normal bilirrubins and INR: 1.11. Creatinine level was 1.3 mg/dL. Serologies for hepatitis B and C viruses and auto-antibodies were negative. Ceruloplasmine, alpha-1-antitrypsin and iron load tests were in the normal range. Abdominal ultrasonography revealed hepatomegaly and magnetic-resonance cholangio-pancreatography demonstrated normal intra- and extra hepatic biliary ducts. Alcohol, drugs, herbs, supplements and medication consumption were denied. The liver biopsy showed normal architecture with areas of centrilobular congestion and necrosis, as well as sinusoidal dilatation, suggesting the diagnosis of BCS. On abdominal computed tomography angiography, thrombosis of right and middle hepatic veins, intrahepatic venous collaterals and a relative increase in caudate and left lobes size with hepatomegaly were noted (Figure 1(A)). Laboratory investigation for common thrombophilic conditions resulted negative. JAK2 mutation was also not detected. The Doppler echocardiography showed a normal ventricle wall thickness and ejection fraction. A screening for neoplasia was performed – upper digestive endoscopy, colonoscopy and computed tomography of the thorax – all of them were unremarkable, except for the presence of large oesophageal varices. Variceal band ligations were performed in a 15-day interval until eradication. Anticoagulation using standard heparinization for three days followed by warfarin was then initiated. The patient evolved with recurrent vomiting, severe orthostatic hypotension and progressive weight loss. In this context, AL amyloidosis associated with adrenal insufficiency was suspected. Basal serum cortisol concentration was normal. Serum immunofixation electrophoresis was positive for a monoclonal protein spike (identified as λ light chain). The 24-h urine evaluation revealed a nephrotic-range proteinuria (3.76 g/24 h). β2-microglobulin was also increased. A radiographic skeletal bone survey did not show lytic lesions. Ultrasonographic evaluation of the kidneys and urinary tract revealed bilateral nephromegaly, as well as the computed tomography. A bone marrow core biopsy demonstrated amyloid deposition on Congo-red staining, further confirming the diagnosis of AL amyloidosis. In this context, the patient was started on dexamethasone and cyclophosphamide. Haematopoietic stem cell transplantation was contraindicated due to severe dysautonomia and renal disease. Unfortunately, 3 months after the diagnosis, she developed a haemorrhagic stroke and died after uncal herniation (Figure 1(B)).
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