Sains Malaysiana 50(5)(2021): 1425-1431

http://doi.org/10.17576/jsm-2021-5005-21

Ascites in a Patient with Hairy Cell Leukaemia and Carcinoma of Breast: A Diagnostic Challenge

(Asites pada Pesakit Leukaemia Sel Berbulu dan Karsinoma Payudara: Suatu Cabaran Diagnosis)

WINT WINT THU NYUNT¹, AZIAN NAILA BINTI MD NOR², NORALISA ABDUL KARIM¹, TANG YEE LOONG², S FADILAH S ABDUL WAHID¹* & NOR RAFEAH TUMIAN³

¹Pusat Terapi Sel, Faculty of Medicine, Hospital Canselor Tuanku Muhriz UKM, 56000 Kuala Lumpur, Federal Territory, Malaysia

²Department of Pathology, Faculty of Medicine, Hospital Canselor Tuanku Muhriz UKM, 56000 Kuala Lumpur, Federal Territory, Malaysia

³Department of Medicine, Faculty of Medicine, Hospital Canselor Tuanku Muhriz UKM, 56000 Kuala Lumpur, Federal Territory, Malaysia  

Received: 3 January 2020/Accepted: 30 September 2020

ABSTRACT

Hairy cell leukaemia (HCL) is a rare indolent B-cell lymphoproliferative disorder. We report a diagnostic challenge in detecting the cause of ascites, which is a rare, unique manifestation of HCL. A 72-year-old lady presented with 1-month-history of pain in left upper abdomen and loss of weight. There was hepatomegaly, splenomegaly, bilateral inguinal lymphadenopathy, anaemia, and lymphocytosis. She was diagnosed as HCL, based on morphology, immunophenotyping of peripheral blood and bone marrow biopsy examination. In 2009, she was diagnosed as carcinoma of breast when she presented with a mass in left breast; and she received treatment. For HCL, she received intermittent chemotherapy (Chlorambucil+Prednisolone). Her HCL was stable until 2018 when she presented with recurrent ascites which needed frequent, regular peritoneal paracentesis. Since she had HCL and carcinoma of breast, determining the aetiology of ascites was challenging. Possible causes of her ascites included metastatic carcinoma of breast, HCL, cirrhosis of liver with portal hypertension and peritoneal tuberculosis. Cytology of peritoneal fluid showed mature-looking lymphocytes but no malignant cells. Interestingly, flow cytometry analysis of peritoneal fluid showed the presence of clonal B cell population with lambda light chain restriction. Therefore, it was concluded that her ascites was a manifestation of HCL. A few months later, she succumbed to septicaemia. Impact of ascites on disease course of HCL included rapid disease progression, poor prognosis and shortened survival. We highlight the important role of immunophenotyping in addition to cytomorphology to guide us in confirming the aetiology of ascites in a patient with haematological and solid organ malignancies.

Keywords: Ascites; flow cytometry; hairy cell leukaemia; immunophenotyping

ABSTRAK

Leukaemia sel berbulu (HCL) merupakan penyakit limfoproliferatif sel-B indolen yang jarang berlaku. Kami melaporkan cabaran diagnosis dalam mengesan penyebab asites, iaitu manifestasi HCL yang luar biasa dan unik. Seorang wanita berumur 72 tahun menunjukkan sejarah kesakitan di bahagian kiri atas abdomen selama sebulan dan penurunan berat badan. Terdapat hepatomegali, splenomegali, limfadenopati inguinal bilateral, anaemia dan limfositosis. Beliau didiagnos sebagai HCL berdasarkan morfologi, imunofenotip darah periferi dan pemeriksaan biopsi sumsum tulang. Pada tahun 2009, beliau didiagnos pula dengan karsinoma payudara apabila terdapat gumpalan pada payudara kiri dan beliau telah menerima rawatan. Bagi HCL, beliau menerima kemoterapi bersela (Chlorambucil+Prednisolone). Penyakit HCL beliau stabil sehingga tahun 2018 apabila beliau mengalami asites berulang dan memerlukan parasentesis peritoneum yang kerap. Oleh kerana beliau menghidap HCL dan karsinoma payudara, penentuan etiologi asites tersebut menjadi amat mencabar. Beberapa kemungkinan punca asitesnya termasuklah metastasis karsinoma payudara, HCL, sirosis hati dengan hipertensi portal dan tuberkulosis peritoneum. Ujian sitologi cecair peritoneum menunjukkan limfosit yang kelihatan matang namun tiada sel malignan. Menariknya, analisis sitometri aliran cecair peritoneum menunjukkan kehadiran populasi sel B klonal dengan sekatan rantai ringan lambda. Oleh itu, disimpulkan bahawa asites tersebut merupakan manifestasi HCL. Beberapa bulan kemudian, beliau meninggal dunia akibat septisemia. Kesan asites pada penyakit HCL termasuklah perkembangan penyakit yang pantas, prognosis yang buruk dan kelangsungan hidup yang pendek. Kami menekankan kepentingan imunofenotip selain sitomorfologi dalam membimbing kami untuk mengesahkan etiologi asites pada pesakit haematologi dan kemaglinanan organ pejal.

Kata kunci: Asites; imunofenotip; leukaemia sel berbulu; sitometri aliran

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*Corresponding author; email: sfadilah@ppukm.ukm.edu.my