Testicular function after treatment for acute lymphoblastic leukemia (all) in prepubertal and pubertal boys.

Testicular function was evaluated in 59 male (27 prepubertal and 32 pubertal) survivors treated for ALL according to two different protocols. Serum inhibin B, FSH, testosterone, LH, and testicular volume were measured. In both groups the mean values of inhibin B were lower than control, whereas the other analyzed parameters were comparable. The inhibin B-to-FSH ratio was reduced as compared to the control. Testicular volume was lower than in healthy pubertal patients. The results show that treatment for ALL has a negative effect on spermatogenesis, regardless of the age at treatment and type of therapy.

[Gonadal function in young men after the treatment for Hodgkin lymphoma]. / Czynnosc gonady meskiej u mlodocianych po leczeniu choroby Hodgkina.

INTRODUCTION: The survival rate after the treatment for Hodgkin lymphoma improved in the last three decades and the late effects of anticancer therapy, particularly gonadal toxicity, became an important problem. THE AIM OF WORK: Assessment of the influence of chemo- and radiotherapy on gonadal function in young male survivors after the treatment for Hodgkin lymphoma (HL). MATERIAL AND METHODS: Levels of inhibin B, testosterone, FSH, LH and testicular volume were measured in 26 HL survivors aged from 15.6 to 25.2, who had been treated for HL in prepubertal (n=8) or pubertal (n=18) period. RESULTS: 1. In all groups, comparing to control one, we found higher FSH concentration (15.2+/-12.3 IU/l vs. 3.3+/-1.2 IU/l); p=0.0004, lower inhibin B (60.9+/-44.5 ng/l vs. 198.1+/-58.1 ng/l); p=0.0001, lower testicular volume (18.2+/-2.6ml vs. 21.3 +/-5.1ml) p=0.01 and normal LH as well as testosterone values. 2. Higher >+2SD FSH and LH were found in 62% and 23%, respectively, and lower <-2SD inhibin B - in 72% of survivors. 3. We did not observe the differences between the patients: a) treated before and during puberty and b) the patients in different stages of disease. 4. Persistently lowered inhibin B concentration and higher, but gradually normalized values of FSH were found >6 years after the end of therapy, 5. Azoospermia was observed in 4/10 patients, oligospermia - in 4/10 and normospermia - only in 2/10. CONCLUSIONS: Anticancer treatment for HL, independently of the age at diagnosis and clinical stage, leads to serious and persistent gonadal dysfunction. The patients should be informed about the problem of gonadal toxicity and possibility of fertility preservation at the moment of diagnosis.

[Testicular function in young men treated in prepubertal period for childhood malignancy]. / Czynnosc gonad u chlopców i mlodych mezczyzn leczonych przed pokwitaniem z powodu choroby nowotworowej.

INTRODUCTION: A complex anticancer treatment leads to different late effects e.g. gonadal damage in adulthood. The information about gonadal function (steroido- and spermatogenesis) after the treatment in prepubertal period are ambiguous. THE AIM OF STUDY: was to evaluate testicular function in young men (Tanner puberty stages IV and V) treated in prepubertal period for childhood malignancies. MATERIAL AND METHODS: In thirty-two pubertal and postpubertal male survivors of childhood cancer (acute lymphoblastic leukemia, ALL - 14, non-Hodgkin lymphoma, NHL - 6, Hodgkin lymphoma, HL and solid tumors - 4) testicular volume and serum FSH, LH, testosterone, inhibin B and calculated quotient inhibin B:FSH were measured. Controls were 15 healthy boys matched by age and Tanner stage. RESULTS: In the whole studied group the mean values of FSH, LH and testosterone did not differ from control, while inhibin B was lower (87.5+/-96.3 vs. 196.5+/-66.8 ng/l; p<0,0003). The lowest values of inhibin B were found in HL (46,15+/-35,12 ng/l) and after ALL treatment (71,1+/-39,8 ng/l). We did not observe differences in hormonal parameters after NHL treatment. The inhibin B-to-FSH ratio was lower, especially after treatment for HL. CONCLUSIONS: Inhibin B is a sensitive marker of gonadal damage. Anticancer therapy in prepubertal period may lead to disturbances in spermatogenesis.

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies.

Nijmegen breakage syndrome (NBS) is a human autosomal recessive disease characterized by genomic instability and enhanced cancer predisposition, in particular to lymphoma and leukemia. Recently, significantly higher frequencies of heterozygous carriers of the Slavic founder NBS1 mutation, 657del5, were found in Russian children with sporadic lymphoid malignancies, and in Polish adults with non-Hodgkin lymphoma (NHL). In addition, the substitution 643C>T (R215W) has also been found in excess among children with acute lymphoblastic leukemia (ALL). In an attempt to asses the contribution of both mutations to the development of sporadic lymphoid malignancies, we analyzed DNA samples from a large group of Polish pediatric patients. The NBS1 mutation 657del5 on one allele was found in 3 of 270 patients with ALL and 2 of 212 children and adolescents with NHL; no carrier was found among 63 patients with Hodgkin lymphoma (HL). No carriers of the variant R215W were detected in any studied group. The relative frequency of the 657del5 mutation was calculated from a total of 6,984 controls matched by place of patient residence, of whom 42 were found to be carriers (frequency = 0.006). In the analyzed population with malignancies, an increased odds ratio for the occurrence of mutation 657del5 was found in comparison with the control Polish population (OR range 1.48-1.85, 95% confidence interval 1.18-2.65). This finding indicates that the frequency of the mutation carriers was indeed increased in patients with ALL and NHL (p < 0.05). Nonetheless, NBS1 gene heterozygosity is not a major risk factor for lymphoid malignancies in childhood and adolescence.

[5- year old boy with Weber-Christian Syndrome or histiocytic cytophagic panniculitis? Diagnostic difficulties. Case presentation]. / Zespól Webera-Christiana czy histiocytic cytophagic panniculitis u 5-letniego chlopca. Trudnosci diagnostyczne. Opis przypadku.

The aim of the paper is to present a case of a 5-year-old boy hospitalised because of recurrent high temperature and reddish blue infiltration of skin and hypodermis lasting 3 months. Because of pancytopenia and hepatomegaly, we suspected a proliferative disease of the haematopoietic or lymphatic system. Several bone marrow biopsies, did not show neoplastic changes. Serological tests excluded virus and animal borne infections. In the histopathologic examination of skin and hypodermis biopsy there was an inflammatory infiltration of the adipose tissue without features of vessel inflammation (the Weber-Christian syndrome). Al though steroid therapy was applied, the infiltration of the adipose tissue did not regress, while liver dysfunction symptoms intensified and pancytopenia and fever continued. The patient died with symptoms or respiratory and circulatory failure. This case of a 5-year-old boy is presented because of extreme diagnostic difficulties, which occurred at each phase of investigations. The repeated tests, as well as several verifications of the sampled histopathological material did not bring any unequivocal proof of the postulated diagnosis.