Renal carcinoma in a patient with glycogen storage disease Ib receiving long...

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题名	Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony-stimulating factor therapy
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Renal Carcinoma in a Patient With Glycogen Storage Disease Ib Receiving Long-term Granulocyte Colony-Stimulating Factor Therapy
Donadieu, Jean M.D.; Barkaoui, M. M.S.; Bézard, F. M.D.; Bertrand, Y. M.D.; Pondarré, C. M.D.; Guibaud, P. M.D.
Author Information
Service d'Hématologie et Oncologie Pédiatrique; Hôspital Trousseau; Paris, France (Donadieu, Barkaoui, Bézard)
Service d'Hématologie; Hôspital Debrousse; Lyon, France (Bertrand, Pondarré)
Service de Génétique et Maladie Métabolique; Hôspital Debrousse; Lyon, France (Guibaud)
Glycogen storage disease Ib (GSD Ib) is a metabolic condition caused by a deficiency in microsomal glucose-6-phosphate translocase, a transporter synthesized by a gene located in 11q23 (1). The main manifestations of the disease include hypoglycemia, fasting hyperlactacidemia, and glycogen overload of the liver. Almost all patients have neutropenia, which leads to frequent and severe infectious complications. Granulocyte colony-stimulating factor (G-CSF) therapy (filgrastim or lenograstim) corrects the neutropenia and avoids the infectious complications (2). Secondary hemopathies have been observed in other forms of constitutional neutropenia. Until now, no malignant disease has been observed in patients with GSD Ib. In the French neutropenia register, which monitors the adverse effects of G-CSF on behalf of the French medicines agency, the authors observed a case of renal carcinoma during G-CSF treatment.
Patient UPN 2104 is a Caucasian woman born June 11, 1976, of consanguineous parents. Her brother died on day 2 of life of hypoglycemic coma. There was no other familial or personal history. Given her brother's death, the patient's neonatal hypoglycemia led to the diagnosis of GSD Ib at birth. Satisfactory nutritional status was obtained without severe hypoglycemic episodes. Neutropenia (<500/mm3) had been present since the age of 1 year. From 1 to 15 years of age, she had numerous bacterial infections (pneumonia, perianal abscess, and in 1990, pericolonic abscess with ileostomy). G-CSF therapy (lenograstim, Chugaï Rhône Poulenc Rorer, Antony, France) was started on August 2, 1991, daily initially, then from two to four injections per week. This treatment had a marked impact on infectious complications, with a moderate increase in the neutrophil count. The dose was between 3 and 5 µg/kg per injection.
Proteinuria appeared when the patient was 19 years old. A kidney ultrasound examination in March 1995 revealed a round, hyperechogenic lesion leading to the diagnosis of clear-cell renal carcinoma 49.7 months after G-CSF therapy was begun (the total duration of daily treatment was 16 months at that date). Because many kidney ultrasound examinations had been performed previously for infectious diagnosis procedure, it is noteworthy that renal cysts had never been observed. The patient's only other medications were lenograstim and various antibiotics.
The tumor measured 1 cm in diameter and was localized; surgical excision was complete (nephrectomy of the lower right pole). No other oncologic treatment was given. No relapse had occurred at the last follow-up visit. G-CSF receptor studies were not performed on the surgical specimen, and neither were cytogenetic studies. The kidney parenchyma exhibited chronic tubulointerstitial lesions with an aspect of focal glomerulosclerosis on the nontumoral renal parenchyma. This accounted for the persistent proteinuria of 2 to 3 g/24. In November 1995, a nodular liver mass was identified, and a biopsy was performed; the results of the biopsy specimen showed a benign hepatic tumor. At the last follow-up (October 9, 1998), treatment with G-CSF was ongoing, with two injections per week, and the patient was well.
Although G-CSF is specific for granulocytic blood precursors, it can induce proliferation in other tissues (3). Nephropathy and benign hepatic nodules have been observed in patients with GSD Ib (4) (both were present in the current patient). The facts that the age of onset (19 years) was younger than usual (most adult kidney tumors occur after 50 years) and that no similar cases have been reported raise the question of a role of G-CSF in the development of this renal tumor. Impaired metabolic status, as in obesity and diabetes mellitus, also may contribute to this malignant disease (5). Among the 531 patients in the international register (6) (17 GSD Ib patients) as of December 31, 1997, and the 160 patients in the French register (12 GSD Ib patients) as of January 5, 1999, no other renal malignant diseases have been observed. More data and more follow-up are required to exclude a link between G-CSF and this tumor type. Regular kidney ultrasound scans may be useful in these patients.
Jean Donadieu, M.D.
M. Barkaoui, M.S.
F. Bézard, M.D.
Service d'Hématologie et Oncologie Pédiatrique; Hôspital Trousseau; Paris, France
Y. Bertrand, M.D.
C. Pondarré, M.D.
Service d'Hématologie; Hôspital Debrousse; Lyon, France
P. Guibaud, M.D.
Service de Génétique et Maladie Métabolique; Hôspital Debrousse; Lyon, France
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REFERENCES
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2. Donadieu J, Bader-Meunier B, Bertrand Y, et al. Recombinant human glycosylated G-CSF (lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases. N Rev Fr Hematol 1993;35:529-34. [Context Link]

3. Demetri GD, Griffin JD. Granulocyte colony-stimulating factor and its receptor. Blood 1991;78:2791-808. [Context Link]

4. Labrune P, Trioche P, Duvaltier I, et al. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997;24:276-9. Ovid Full Text Bibliographic Links Library Holdings [Context Link]

5. Vogelzang NJ, Stadler WM. Kidney cancer. Lancet 1998;352:1691-6. Full Text Bibliographic Links Library Holdings [Context Link]

6. Freedman MH, Bonilla MA, Boxer L, et al. MDS/AML in patients with severe chronic neutropenia receiving G-CSF [abstract]. Blood 1996;88(Suppl 1):448a. Library Holdings [Context Link]

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