title: Mast cell leukemia with rapidly progressing portal hypertension.
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.
authors.affiliation: Department of Molecular Pathology and Tumor Pathology, Akita University Graduate School of Medicine, Akita, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Yoshida
authors.forename: Yuji
authors.initials: Y
authors.lastname: Nishikawa
authors.forename: Yohei
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Yuko
authors.initials: Y
authors.lastname: Doi
authors.forename: Takuo
authors.initials: T
authors.lastname: Tokairin
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Yoshioka
authors.forename: Yasufumi
authors.initials: Y
authors.lastname: Omori
authors.forename: Atsushi
authors.initials: A
authors.lastname: Watanabe
authors.forename: Naoto
authors.initials: N
authors.lastname: Takahashi
authors.forename: Tomoko
authors.initials: T
authors.lastname: Yoshioka
authors.forename: Ikuo
authors.initials: I
authors.lastname: Miura
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Sawada
authors.forename: Katsuhiko
authors.initials: K
authors.lastname: Enomoto
mesh_terms: D001064:Appendicitis / Q000150:complications; D017809:Fatal Outcome; D005260:Female; D005922:Glomerulonephritis, IGA / Q000150:complications; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology* / Q000473:pathology; D007889:Leiomyoma / Q000150:complications; D007946:Leukemia, Mast-Cell / Q000150:complications* / Q000503:physiopathology; D008875:Middle Aged; D010048:Ovarian Cysts / Q000150:complications; D014594:Uterine Neoplasms / Q000150:complications