Mast cell leukemia with rapidly progressing portal hypertension

Pathol Int. 2009 Nov;59(11):817-22. doi: 10.1111/j.1440-1827.2009.02451.x.

Abstract

Reported herein is an autopsy case of mast cell leukemia, a rare form of systemic mastocytosis, complicated with portal hypertension. A 52-year-old woman presented with urticaria-like skin symptoms, anemia, and thrombocytopenia. Atypical mast cells (CD2+, CD25+, CD117+) with toluidine blue metachromasia were found in the peripheral blood and on bone marrow aspiration smears. Chemotherapy with cytosine arabinoside and idarubicin was ineffective and the patient died of multi-organ failure with rapidly progressing hepatosplenomegaly and large-volume ascites 3 months after admission. At autopsy the bone marrow, spleen, liver, and lymph nodes were extensively infiltrated by atypical tumor cells with occasional bi- or multi-lobated nuclei. They were positive for mast cell tryptase and possessed an activating mutation of the c-kitgene (D816V). Ascites (2200 mL) and non-ruptured esophageal varices with submucosal hemorrhage indicated the presence of severe portal hypertension. Although there was no evidence of liver cirrhosis, the hepatic sinusoids were clogged with tumor cells, with a tendency to be more severe in the perivenular areas, and the lumens of central veins were obliterated by tumor cell infiltration. The present case demonstrates that non-cirrhotic portal hypertension due to blocking of sinusoidal and venous flow could be a serious complication in mast cell leukemia.

Publication types

  • Case Reports

MeSH terms

  • Appendicitis / complications
  • Fatal Outcome
  • Female
  • Glomerulonephritis, IGA / complications
  • Humans
  • Hypertension, Portal / etiology*
  • Hypertension, Portal / pathology
  • Leiomyoma / complications
  • Leukemia, Mast-Cell / complications*
  • Leukemia, Mast-Cell / physiopathology
  • Middle Aged
  • Ovarian Cysts / complications
  • Uterine Neoplasms / complications