Opis przypadku — występujący rodzinnie wewnątrzczaszkowo germinoma

Abstract

Background: Intracranial germinomas (ICG) are uncommon brain neoplasms with extremely rare familial occurrence. Because ICG invades the hypothalamus and/or pituitary, endocrine dysfunction is one of the common determinants of these tumours. We present two brothers with a history of ICG. Patient 1 is a 25-year-old male who suffered from weakness of the right half of his body at the age of 18 years. Cranial MRI revealed a mass lesion in the left thalamus. He underwent neurosurgery, and the tumour was removed completely. Histopathological (HP) and immunohistochemical analyses verified the diagnosis of pure germinoma. He experienced complete remission of the tumour after radiation therapy. At the age of 22 years a diagnosis of isolated growth hormone deficiency (IGHD) was established and GH replacement was initiated. Molecular genetic analysis of the tumour tissue detected the mutation within exon 2 in KRAS gene. Patient 2 is a 20-year-old man who presented with diabetes insipidus at the age of 12 years. MRI detected tumour in the third ventricle and pineal region. After endoscopic tumour biopsy the HP diagnosis was pure germinoma. He received chemotherapy followed by radiotherapy and was treated with GH during childhood. At the age of 18 years GH replacement was reintroduced. A six-month follow-up during the subsequent two years in both brothers demonstrated the IGF1 normalisation with no MRI signs of tumour recurrence. Conclusion: To the best of our knowledge, so far only six reports have been published related to familial ICG. The presented two brothers are the first report of familial ICG case outside Japan. They have been treated successfully with GH therapy in adulthood. (Endokrynol Pol 2018; 69 (5): 612-618) StreszczenieWstęp: Rozrodczaki wewnątrzczaszkowe (intracranial germinomas, ICG) to rzadkie nowotwory mózgu, a szczególnie rzadko stwierdza się ich występowanie rodzinne. W związku z tym, że ICG zajmuje podwzgórze i/lub przysadkę mózgową, zaburzenia endokrynologiczne są jednym z najczęstszych wyznaczników obecności tych guzów. W pracy przedstawiono dwóch braci z ICG. Pacjent 1 to 25-letni mężczyzna, u którego w wieku 18 lat wystąpiło osłabienie mięśni po lewej stronie ciała. Badanie metodą rezonansu magnetycznego (MRI) czaszki ujawniło masę w lewym wzgórzu. Chorego poddano zabiegowi neurochirurgicznemu, podczas którego guz został całkowicie usunięty. Badania histopatologiczne i immunohistochemiczne potwierdziły rozpoznanie czystej postaci rozrodczaka. Po radioterapii nastąpiła całkowita remisja guza. W wieku 22 lat u chorego zdiagnozowano izolowany niedobór hormonu wzrostu (isolated growth hormone deficiency, IGHD) i wdrożono terapię zastępczą hormonem wzrostu (growth hormone, GH). Genetyczna analiza molekularna tkanki guza wykazała mutację w eksonie 2 w genie KRAS. Pacjent 2 to 20-letni mężczyzna, u którego w wieku 12 lat stwierdzono moczówkę prostą. W badaniu MRI wykryto guz w okolicy trzeciej komory i szyszynki. Po ocenie histopatologicznej materiału pobranego za pomocą biopsji endoskopowej postawiono di...

Mapping the journey of transition: a single-center study of 170 childhood-onset GH deficiency patients

“…We enrolled 4 patients with history of intracranial germinoma, who contributed the reduced BMD in TUMC group. Low BMD was reported as prevalent in patients with a history of intracranial germinoma (19,20).…”

“…The mean age at the start of childhood rhGH was 10.7 ± 3.5 years (range 2-16). rhGH replacement was discontinued prior to transfer to adult care at an average age of 17.4 ± 1.8 (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25) yrs. Duration of rhGH gap between pediatric and adult care evaluation was 1.7±2.4 yrs (range 0.1 -14 yrs) (Table 4).…”

“…Of the 102 patients with persistent COGHD treated during childhood, 10 have declined the advice to continue rhGH and were subsequently lost to follow-up (Figure 1). In the remaining 92 patients rhGH was reintroduced at age 19.3 ± 2.0 yrs (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25).…”

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma

“…There is little molecular data regarding germinoma’s development, considering the low incidence of this type of a tumour. Although rare, several familial cases of intracranial germinomas have been described, prompting further genetic studies regarding their tumourigenesis mechanism [ 78 , 79 , 80 , 81 ]. Fukushima et al proposed that MAPK and/or PI3K pathway alterations, DNA hypomethylation, and chromosomal abnormalities represent a triad involved in the pathogenesis of pure germinomas [ 82 ].…”

“…Moreover, patients with chromosomal abnormalities (Down’s and Klinefelter syndrome) have been reported to develop CNS germinomas [ 84 , 85 ]. Chromosomal gains and losses are frequently encountered in germinomas (as presented in Table 3 ) [ 14 , 80 , 86 , 87 ]. Chromosomal aberrations such as gain of 2q and 8q and loss of 5q, 9p/q, 13q, and 15q are associated with a worse prognosis [ 7 ].…”