Hitoshi Niino

ACUTE LEUKEMIA OF MEGAKARYOCYTE LINEAGE WITH TUMOR FORMATION: An Autopsy Case of Patient with Down's Syndrome

In this report we present the autopsy findings of acute megakaryoblastic leukemia with tumor formation in a 2‐year‐old female infant with Downs syndrome. Chromosomal analysis of blast cells revealed constitutional anomaly of trisomy 21 and two other related types of abnormal clones. Flow cytometric examination revealed blast cells expressing Ia‐like or HLA‐DR antigens. Postmortem examination showed extensive inffltration of leukemic cells in most of the examined organs, including the bone marrow with myelofibrosis. Tumor masses in the maxillary, frontal and femoral bones and the atria of the heart had undergone massive infiltration of atypical blast cells with an increase in the reticulin network. The final diagnosis was confirmed by ultrastructural cytochemistry of the platelet peroxidase reaction as well as by immunological staining utilizing anti‐platelet glycoprotein IIb/IIIa, anti‐platelet factor 4 and anti‐β‐thromboglobulin antibodies for the blast cells. It seems likely that platelet‐derived growth factor, secondary to an increase in the reticulin network, plays a major role in myelofibrosis of acute megakaryoblastic leukemia with tumor formation. ACTA PATHOL JPN 38: 193–207, 1988.

Colonic low-grade endometrial stromal sarcoma and orthotopic endometrial stromal tumor with limited infiltration sharing the JAZF1-SUZ12 gene fusion

Endometrial stromal tumors (ESTs) are composed of cells resembling endometrial stroma, and are divided into benign and malignant types based on morphology. Endometrial stromal nodule (ESN) is a benign localized tumor, and endometrial stromal sarcoma (ESS) is an infiltrative and potentially metastatic neoplasm. A series of genetic aberrations contribute to pathological diagnosis of ESTs. At present, subsets of ESN and ESS‐low grade (ESS‐LG) are characterized as JAZF1‐SUZ12/JJAZ1 gene fusion. The ESTs that show higher grade atypia but lack nuclear pleomorphism include YWHAE‐FAM22 ESS. Here we report an unusual case of ESTs. Sudden colonic perforation occurred to the patient, and emergency surgery was performed. Pathological findings suggested metastatic ESS. Thorough medical examination of the genital organs detected a 1 cm‐sized well‐demarcated uterine tumor. Microscopically, the tumor lacked infiltrative features, conforming to the definition of ESN. Both lesions demonstrated identical cytology and shared JAZF1‐SUZ12 gene fusion. Endometriosis was not found in any areas of the resected organs, strongly suggesting that the uterine orthotopic tumor metastasized. The current case uncovered the problems of differential diagnosis between ESN and ESS‐LG. We demonstrate detailed pathological features of the two lesions, and discuss the possibility of orthotopic EST with limited infiltration to develop into ESS‐LG.

Esophageal Carcinosarcoma that Was Diagnosed as a Granulocyte-colony Stimulating Factor and Interleukin-6-producing Tumor with a Tumor Fever

A 51-year-old man visited our hospital with a main complaint of precordial pain, difficulty swallowing, and pyrexia. The patient was diagnosed with esophageal carcinosarcoma, based on the characteristic morphology noted on upper gastrointestinal endoscopy and histology tests, and he underwent surgical treatment. His preoperative blood granulocyte-colony stimulating factor (G-CSF) and interleukin-6 (IL-6) levels were high, and the surgical specimens were positive in both immunohistochemical tests; therefore, he was diagnosed with a G-CSF- and IL-6-producing tumor. When pyrexia is seen as a paraneoplastic symptom, it is important to consider and investigate the possibility of a cytokine-producing tumor.