Pediatric thyroid-like follicular renal cell carcinoma-a post-neuroblastoma case with comprehensive genomic profiling data.

Thyroid-like follicular renal cell carcinoma (TLFRCC), an emerging subtype of renal cell carcinoma, presents diagnostic challenges due to its resemblance to normal thyroid tissue. Here, we report a rare case of TLFRCC in a pediatric patient, a demographic rarely affected by this subtype. Histologically resembling a typical TLFRCC, our case exhibited unique features including post-neuroblastoma development, occurrence in a male teenager, and diffuse MelanA expression, which has not been previously reported in TLFRCC. Comprehensive genomic profiling revealed the EWSR1::PATZ1 fusion, confirming its genetic basis. Due to the advanced tumor stage, the patient received combined immunotherapy, and after a 9-month follow-up, remains tumor-free. Our case broadens the diagnostic spectrum of pediatric renal cell carcinomas, highlighting the importance of comprehensive molecular profiling in rare subtypes such as TLFRCC. Further research is needed to better understand TLFRCC's genetic landscape and optimize therapeutic strategies, especially in pediatric populations with evolving treatment protocols.

[The pioneering case of ovarian cryopreservation in childhood in Hungary]. / A termékenység megorzése céljából gyermekkorban végzett petefészekszövet-fagyasztás elso hazai esete.

With the development of the paediatric oncohaematological care and improving healing results, the focus on survival with high quality of life increases. Some oncohaematological treatments have a high gonadotoxicity and can cause infertility, therefore the fertility preservation is gaining ground worldwide. Most of the fertility preservation procedures are not yet available in childhood in Hungary. One of the main fertility preservation methods is the ovarian cryopreservation followed by ovarian autotransplantation. The aim of this article is to introduce the first prepubertal ovarian cryopreservation procedure in Hungary. The procedure was a collaboration between the 2nd Department of Paediatrics and the Department of Obstetrics and Gynaecology of Semmelweis University. The patient treated with lymphoblastic granulomatosis was accepted for allogenic bone marrow transplantation, which conditional therapy has a very high gonadotoxic impact, with a consequential infertility. Also responding to the patient's family request, the oncoteam decided to carry out a fertility preservation procedure, an ovarian cryopreservation. With the necessary permits, we carried out the first laparoscopic ovarian removal for cryopreservation in a prepubertal girl at the 2nd Department of Paediatrics of Semmelweis University, resulting the tissue deep frozen at the Department of Obstetrics and Gynaecology of Semmelweis University. With the development of oncohaematological treatments, there is a growing need for fertility preservation methods. Most of these are already available for women, but not for the age group under eighteen. The presented ovarian cryopreservation method for the 13-year-old girl is the pioneer case in Hungary. In the future, the authors aim to create a national oncofertility network that can serve as a basis for the smoothest care of similar cases. Orv Hetil. 2023; 164(3): 104-109.

Pediatric adrenocortical adenoma presenting with Cushing's syndrome / Cushing-szindrómát okozó gyermekkori mellékvesekéreg-adenoma

Összefoglaló. A gyermekkorban kialakuló Cushing-szindróma ritka betegség, a leggyakrabban exogén szteroidadás következményeként jelentkezik. A daganatos betegségek közül a hypophysis kortikotropint szekretáló adenomája, illetve a mellékvesekéreg-tumorok okoznak a leggyakrabban Cushing-szindrómát. Jelen tanulmányunkban egy Cushing-szindrómával diagnosztizált fiú esetét mutatjuk be. Az endokrinológiai kivizsgálás adrenokortikotropin (ACTH)-independens hypercortisolismust támasztott alá. A hasi MRI-felvételen egy éles határral rendelkezo, 3,5 cm nagyságú terime ábrázolódott a jobb mellékvese-régióban. A tumort parciális mellékvese-eltávolítás során távolították el. A szövettani elemzés mellékvesekéreg-adenomát igazolt. A gyermek klinikailag és laborértékei alapján gyógyultnak tekintheto. A Cushing-szindrómával kezelt betegek hosszú távú nyomon követése szükséges, melynek során szükség szerint biztosítani kell a glükokortikoidok és az egyéb szteroidhormonok megfelelo pótlását, a kialakult szövodmények kezelését, és adott esetben idoben fel kell ismerni a Cushing-szindróma késoi relapsusát is. Orv Hetil. 2022; 163(10): 407-412. Summary. Cushing's syndrome (CS) in children is a rare disease, most frequently caused by either an adrenal tumor or a corticotropin-secreting pituitary adenoma. Its early detection and effective treatment are highly important to avoid the short- and long-term consequences of hypercortisolism. We report a case of a child with Cushing's syndrome resulting from an adrenocortical adenoma. Endocrinological data revealed adrenocorticotropin (ACTH) independent hypercortisolism. MRI scan of the adrenal glands showed a single, well-encapsulated tumor on the right adrenal gland with a diameter of 3.5 cm. Adrenal gland sparing surgery was performed with total excision of the tumor. The histological analysis confirmed the diagnosis of adrenal adenoma. The child was cured clinically and biochemically. The long-term follow-up of patients treated for Cushing's syndrome should include the adequate replacement of glucocorticoids and other steroid hormones, treatment of osteoporosis and other pathologic effects of hypercortisolism and long-term screening for the relapse of Cushing's syndrome. Orv Hetil. 2022; 163(10): 407-412.

[Incomplete androgen insensitivity]. / Inkomplett androgéninszenzitivitás szindróma.

In the androgen insensitivity syndrome (AIS) the androgen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold. The karyotype was 46,XY. There was no increase in the testosterone level during the first three months of life. The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family.