Metastatik adenokarsinomada pseudo-gaucher hücreleri

Amaç: Metastatik solid tümörler klinik ve mikroskopik olarak Gaucher hastalığını taklit edebilir. Ayırıcı tanıda dikkate alınmalıdır. Olgu sunumu: Hiperkalsemi, hepatosplenomegali ve yaygın kemik ağrıları ile başvuran 33 yaşındaki hastaya kemiğe metastatik malignite düşünülerek ayırıcı tanı biyopsi yapıldı. Mikroskopik incelemesinde PAS pozitif, nükleusları perifere iten birikimler içeren hücreler izlendi. İlk aşamada kemik iliğinin Gaucher hücrelerince infiltrasyonu olarak rapor edildi. Klinik de Gaucher hastalığının yetişkin formuyla uyumlu idi. Ancak elektron mikroskopisi ve enzim tayini yapılamadı. Bu arada ultrasonografide ve bilgisayarlı tomografide şüpheli ovarian kisti izlendi. CA 125 düzeyi yüksek bulundu. Bunun üzerine kemik iliği materyali ek boyamalarla (Alcian blue, diastase PAS ve sitokeratin) yeniden değerlendirildi. Sonuçta taşlı yüzük hücreli adenokarsinom metastazı olarak değerlendirildi. Benzer hücrelere endometriyal küretaj materyalinde de izlendi. Söz konusu hücreler pseudo Gaucher hücreleri olarak tanımlandı. Metastatik adenokarsinom tanısı ile üç seans kemoterapi uygulandı. Sonuç: Klinik ve pseudo Gaucher hücreleri ile metastatik adenokarsinomu Gaucher hastalığından ayırmak zor olabilir. Vakamız hematolojik malignansi dışında malignant solid tümörlerde de pseudo Gaucher hücrelerinin izlenebileceğine dair bir örnektir.

Pseudo-gaucher cells in metastatic adenocarcinoma

Objective: Metastatic solid tumours may present with clinical and microscopic features resembling Gaucher’s disease. Meticulous attention must be paid in differential diagnosis. Case report: A thirty-three years old woman was admitted to the hospital due to hypercalcemia, hepatosplenomegaly, and severe bone pain. Metastasis to bone marrow was suggested and bone marrow biopsy was done for definite diagnosis. PAS positive deposits displacing nuclei to the periphery were observed in microscopy. Gaucher’s disease involving bone marrow was the pathologic diagnosis at first evaluation. Clinical features were compatible with the adult form of Gaucher’s disease. Electron microscopy and enzymatic assay were unavailable. Ultrasonography and computed tomography yielded suspected cyst in the ovary. CA 125 level was high. Reconsideration of the bone marrow biopsy and additional staining (Alcian blue, diastase PAS, and cytokeratin) proved to be signet cell adenocarcinoma metastasis. Similar cells were present on endometrial curettage specimen. The stated cells were termed pseudo Gaucher cells. Three sessions of chemotherapy were administered for metastatic adenocarcinoma. Conclusion: It may be difficult to differentiate metastatic adenocarcinoma from Gaucher’s disease in terms of clinical features and pseudo-Gaucher cells. Our patient represents an example to the presence of pseudo-Gaucher cells in solid tumours as well as in haematologic malignancies.

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Genel Tıp Dergisi-Cover
  • ISSN: 2602-3741
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 1997
  • Yayıncı: SELÇUK ÜNİVERSİTESİ > TIP FAKÜLTESİ