The unique association of malignant histiocytosis and a primary gonadal germ cell tumor

Abstract

Previous reports of the association between hematologic malignancies and germ cell tumors have been limited to patients with nonseminomatous tumors, exclusively of mediastinal origin. Among the various hematologic disorders, a large proportion have involved histiocytic tumors, either acute monocytic leukemia or malignant histiocytosis. We now report the first case of simultaneously occurring malignant histiocytosis and testicular embryonal carcinoma. The patient, an 18-year-old male, presented with hepatosplenomegaly due to malignant histiocytosis and was found on further evaluation to have a stage I testicular cancer consisting of teratocarcinoma with endodermal sinus elements. Despite aggressive chemotherapy, the patient died of malignant histiocytosis 6 months after the original diagnosis. The autopsy revealed widespread organ involvement with malignant histiocytosis and no evidence of residual germ cell tumor. This case demonstrates that germ cell tumors associated with hematologic malignancy do not arise solely in extragonadal sites.

Concurrent mediastinal germ-cell tumour and haematological malignancy: Case report and short review of literature

“…The syndrome seems to be specific for mediastinal nonseminomatous GCTs, and frequently there are serologic (elevated AFP) or histologic evidence of yolk-sac elements [5,8]. It should be noted however, that there are two reports in which the GCTs were located in the testicle and in the midline of the brain, respectively [9,10]. One of the three present patients suffered from acute megakaryoblastic leukaemia, the two others from malignant histiocytosis.…”

Histiocytic sarcoma: a study of five cases including the histiocyte marker CD163

“…This phenomenon may represent a relatively common feature of malignant histiocytes, either lineage promiscuity related to the primitive nature of these cells 79,80 or dual genotype in which some histiocytes may abnormally retain the ability to rearrange the TCR and/or IgH genes despite phenotypically developing along histiocytic lines. 28 The former explanation is supported by the observation that histiocytic neoplasms occasionally arise in association with mediastinal germ-cell tumors 81,82 and that IgH rearrangements have been previously reported in myeloid sarcoma. 83,84 Alternatively, cross-contamination from positive cases or 'pseudomonoclonality' due to extremely low numbers of lymphocytes may contribute to false positive molecular testing results.…”

Malignant Histiocytoses/Disseminated Histiocytic Sarcoma With Hemophagocytic Syndrome in a Patient With Mediastinal Germ Cell Tumor

“…20 Other markers for HS although extranodal and not associated with NSGCT, all 14 cases in 1 study were positive for CD45, CD45Ro, CD68, whereas other markers included CD4, lysozyme, CD31, S100, and CD1a. 29 Although the cytogenetic abnormalities have been lumped into the general category of hematologic malignancies occurring after mediastinal NSGCT, the association with chromosome 12 abnormalities, that is, either i12p, trisomy 12, or extra copies of 12p 4,5,8,30,31 has been reported mainly in association with leukemias whereas trisomy 8, del 5q, and trisomy 9 have been reported in association with the MH or HS 16,17 (Table 1). Although this case did not demonstrate i12p, of note and interest, BM from September 19, 2007 noted an i(7q) in 0.2% and trisomy of chromosome 9 in 0.6% interphase cells examined, however, it was noted that the findings were not above the upper level of normal variation for this test.…”

“…[1][2][3][4][5][6][7] Exceptional rare cases of gonadal GCT has also been reported. 8,9 Histiocytic proliferations associated with mediastinal NSGCT are rare (Table 1), rapidly fatal, and range from HPS, 12,15 malignant histiocytosis (MH), [8][9][10][11]13,14,17,18 to histiocytic sarcoma (HS). 16 The histiocytic proliferations can range from appearing cytologically benign with bland nuclear features to frankly malignant with atypical nuclear features with fulminant dissemination to multiple organs, termed true MH/disseminated HS using the preferred World Health Organization classification terminology.…”