Molecular genetic analysis of primary renal epithelial tumours with granular oncocytic cytoplasms / Análisis genético molecular de tumores epiteliales renales primarios con citoplasma oncocítico granular

SUMMARY: The group of primary renal tumours with granular-oncocytic cytoplasm is a very heterogeneous group, in its histological origin and biological behavior resulting in many diagnostic problems. In this study 57 renal epithelial tumours with granular oncocytic cells were analyzed using fluorescence in situ hybridisation (FISH), array comparative genomic hybridisation (aCGH) and polymerase chain reaction (PCR). The results of analysis in renal oncocytoma (RO) did not indicate the presence of the gene mutations or chromosomal abnormalities. Sporadic renal hybrid oncocytic/chromophobe tumours (HOCT) had multiple numerical aberrations of chromosomes 1, 2, 6, 9, 10, 13, 17, 20, 21 and 22. This type of tumour had no mutations in the VHL, c-kit, PDGFRA, and FLCN genes. Oncocytic papillary renal cell carcinoma (O-PRCC) had numerical abnormalities of chromosomes 7 and 17 and the loss of the Y chromosome. Cytogenetic analysis of 20 pigmented microcystic chromophobe renal cell carcinomas (PMChRCC) showed monosomy as the most frequent aberration in all analyzed chromosomes 1, 2, 5, 10, 13, 17 and 21. One case of chromophobe renal cell carcinoma (ChRCC) with hyaline globules had a mutation in the distal part of exon 3 of the VHL gene. Absence of genetic disorders in usual RO is common result, but we have established absence of genetic disorders even in rare variants. Variety of genetic alterations detected in sporadic renal HOCT proves it to be a separate entity, not a variant of ChRCC, while PMChRCC is an uncommon variant of ChRCC. O-PRCC is a subtype of papillary renal cell carcinoma.

RESUMEN: El grupo de tumores renales primarios con citoplasma granular-oncocítico es un grupo muy heterogéneo, en su origen histológico y comportamiento biológico, resultando en problemas de diagnóstico. En el estudio se analizaron 57 tumores epiteliales renales con citoplasma oncocítico granular mediante hibridación fluorescente in situ (FISH), hibridación genómica comparativa de matriz (aCGH) y reacción en cadena de la polimerasa (PCR). Los resultados del análisis en oncocitoma renal (RO) no indicaron la presencia de mutaciones genéticas ni anomalías cromosómicas. Los tumores oncocíticos / cromófobos híbridos renales esporádicos (HOCT) tenían múltiples aberraciones numéricas de los cromosomas 1, 2, 6, 9, 10, 13, 17, 20, 21 y 22. No se observaron mutaciones en este tipo de tumor en el VHL, c-kit, PDGFRA y genes FLCN. El carcinoma de células renales papilar oncocítico (O-PRCC) tenía anomalías numéricas de los cromosomas 7 y 17 y la pérdida del cromosoma Y. El análisis citogenético de 20 carcinomas de células renales cromófobos microquísticos pigmentados (PMChRCC) mostró que la monosomía era la aberración más frecuente en todos los cromosomas analizados 1, 2, 5, 10, 13, 17 y 21. Un caso de carcinoma de células renales cromófobo (CCRc) hialino tenía una mutación en la parte distal del exón 3 del gen VHL. La ausencia de trastornos genéticos en la OI habitual es un resultado común, pero hemos establecido la ausencia de trastornos genéticos incluso en variantes raras. Varias alteraciones genéticas detectadas en esporádica HOCT renal demuestran que es una entidad separada, no una variante de ChRCC, mientras que PMChRCC es una variante poco común de ChRCC. O-PRCC es un subtipo de carcinoma papilar de células renales.

LIPOSARCOMA OF THE SPERMATIC CORD - DIAGNOSTIC AND THERAPEUTIC ISSUE.

Liposarcoma of the spermatic cord is a malignant tumor so rare that there are less than 200 cases reported in the literature worldwide. Liposarcoma is a malignancy which originates from fat tissue. Although only 3%-7% of all paratesticular sarcomas primarily arise from structures of the spermatic cord, clinical significance of these tumors must not be neglected because they are often preoperatively misdiagnosed. A 66-year-old male presented with a painless swelling on the left side of the scrotum. Local examination revealed a solid, smooth, limited mass of approximately 4x3 cm in the left side of the scrotum. Tumor markers were within the reference range. Ultrasound examination showed a solid, clearly limited non-homogeneous mass of 40x20 mm localized in the left spermatic cord. Magnetic resonance imaging showed an expansive mass measuring 60x85x60 mm in the left inguinoscrotal region without propagation into the abdominal cavity. Both testicles and epididymides appeared normal on magnetic resonance examination and no locoregional enlarged lymph nodes were seen. The patient was treated operatively with radical inguinal orchiectomy. In conclusion, liposarcomas of the spermatic cord are extremely rare neoplasms that clinically present as slow-growing, painless, palpable inguinal or scrotal masses. Radical orchiectomy with high ligation of the spermatic cord and wide excision of the surrounding soft tissues within the inguinal canal remains the gold standard treatment option. Recurrence of the disease is frequent even several years after primary therapy, therefore long-term follow-up is mandatory.