Öz
A previously healthy 31-year-old female presenting with
dyspnea, iron deficiency anemia, pancytopenia, splenomegaly,
and abnormal coagulation tests was admitted to the hospital.
Hematology consultation additionally revealed that 71% of cells
were indicative of acute promyelocytic leukemia (APL) and the
patient tested positive for a t(15;17) translocation, confirming APL.
All-trans retinoic acid (ATRA) therapy was initiated immediately,
but the patient exhibited severe dyspnea. This subsequently
resulted in circulatory and respiratory arrest, followed by death.
Just after death, fluorescein-labelled proaerolysin (FLAER)
revealed a paroxysmal nocturnal hemoglobinuria (PNH) monocyte
clone of 82%, confirming the diagnosis of PNH. Leukemia can
be derived from non-PNH clones in PNH patients. Catastrophic
thromboembolic events that could not be controlled with aggressive
anticoagulation in a profoundly thrombocytopenic patient without
overt disseminated intravascular coagulation (DIC) may suggest
co-existent PNH.
Anahtar Kelimeler
Kaynakça
- Parker CJ. Paroxysmal nocturnal hemoglobinuria. Curr Opin Hematol 2012;19:141-8. doi: 10.1097/ MOH.0b013e328351c348
- Harris JW, Koscick R, Lazarus HM, Eshleman JR, Medof ME. Leukemia arising out of paroxysmal nocturnal hemoglobinuria. Leuk Lymphoma 1999;32:401-26.
- Levi M, Toh CH, Thachil J, Watson HG. Guidelines for the diagnosis and management of disseminated intravascular coagulation. Br J Haematol 2009;145:24-33. doi: 10.1111/ J.13652141.2009.07600.x.
- Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R, Hillmen P, Luzzatto L, Young N, Kinoshita T, Rosse W, Socié G; International PNH Interest Group. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106:3699-709. doi: 10.1182/blood-2005-04-1717
- Ribeiro R, Rego R. Management of APL in developing countries: epidemiology, challenges and opportunities for international collaboration. Hematology Am Soc Hematol Educ Program 2006:162-8.
- Douer D. The epidemiology of acute promyelocytic leukemia. Bailliere’s Best Pract Clin Hematol 2003;16:357 67. doi: http://dx.doi.org/10.1016/S1521-6926(03)00065-3
- Mortazavi Y, Tooze JA, Gordon-Smith EC, Rutherford TR. N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/ paroxysmal nocturnal hemoglobinuria during evolution to clonal disease. Blood 2000;95:646-50.
Paroksismal noktürnal hemoglobinüriden evrilen akut promyelositik lösemi olgusu: Nadir bir birliktelik
Öz
Bilinen bir hastalığı olmayan ve dispne, demir eksikliği anemisi, pansitopeni, splenomegali ve anormal koagülasyon testleri ile başvuran 31 yaşında kadın hasta hastaneye yatırıldı. Hematoloji değerlendirmede hücrelerin %71’inin akut promyelositik lösemi (APL) ile uymlu olduğu saptandı ve hastanın t(15;17) translokasyonu pozitif gelerek APL doğrulandı. All-trans retinoik asit (ATRA) tedavisi hemen başlandı ancak hastada ağır dispne bulguları gelişti. Bu durum dolaşımsal ve kardiyak arreste yol açtı ve ölümle sonuçlandı. Hastanın ölümünden sonra sonuçlanan
FLAER tetkikinde paroksismal nokturnal hemoglobinüri tanısını
doğrulayan 82% monosit klonu saptandı. Nokturnal hemoglobinüri
hastalarında nokturnal hemoglobinüri dışı klonlardan lösemi
gelişebilmektedir. Aşikar yaygın damar içi pıhtılaşması bulguları
olmayan ağır trombositopenik bir hastada agresif antikoagülasyonla
kontrol edilemeyen katastrofik tromboembolik olaylar eşlik eden
nokturnal hemoglobinüriye işaret edebilir.
Anahtar Kelimeler
Kaynakça
- Parker CJ. Paroxysmal nocturnal hemoglobinuria. Curr Opin Hematol 2012;19:141-8. doi: 10.1097/ MOH.0b013e328351c348
- Harris JW, Koscick R, Lazarus HM, Eshleman JR, Medof ME. Leukemia arising out of paroxysmal nocturnal hemoglobinuria. Leuk Lymphoma 1999;32:401-26.
- Levi M, Toh CH, Thachil J, Watson HG. Guidelines for the diagnosis and management of disseminated intravascular coagulation. Br J Haematol 2009;145:24-33. doi: 10.1111/ J.13652141.2009.07600.x.
- Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R, Hillmen P, Luzzatto L, Young N, Kinoshita T, Rosse W, Socié G; International PNH Interest Group. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106:3699-709. doi: 10.1182/blood-2005-04-1717
- Ribeiro R, Rego R. Management of APL in developing countries: epidemiology, challenges and opportunities for international collaboration. Hematology Am Soc Hematol Educ Program 2006:162-8.
- Douer D. The epidemiology of acute promyelocytic leukemia. Bailliere’s Best Pract Clin Hematol 2003;16:357 67. doi: http://dx.doi.org/10.1016/S1521-6926(03)00065-3
- Mortazavi Y, Tooze JA, Gordon-Smith EC, Rutherford TR. N-RAS gene mutation in patients with aplastic anemia and aplastic anemia/ paroxysmal nocturnal hemoglobinuria during evolution to clonal disease. Blood 2000;95:646-50.