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

The Transdifferentiation of Mediastinal Germ Cell Tumor into a Myeloid Neoplasm in the Bone Marrow-Report of a Case and Short Review of a Diagnostic Pitfall

“…In most patients with a hematological malignancy developing along with a mediastinal GCT, the prognosis is quite dismal (Ikdahl et al, 2008). This may reflect the innate property of a GCT which has the capacity to trans-differentiate into hematopoietic cells, but may also indicate the adverse impact of a clonally independent but concurrent malignancy.…”

“…It may be seen in few cases of extra-gonadal GCTs, but this or any other cytogenetic abnormality is not considered characteristic for extra-gonadal GCT (Nichols, Roth, Heerema, Griep, & Tricot, 1990). Subsequently additional cases of hematological malignancy associated with mediastinal germ cell tumors have been shown to contain the I (12p) abnormality (Ikdahl et al, 2008;Vlasveld, Splinter, Hagemeijer, Van Lom, & Lowenberg, 1994;Woodruff et al, 1995;Yu, Kim, Cha, Park, & Kim, 2011), often along with +8 or other complex cytogenetic abnormalities. A recent review of published cases found about 65 reported cases of hematological abnormalities associated with mediastinal GCT (Yu et al, 2011) and some of them occur concurrently with the diagnosis of GCT (Ikdahl et al, 2008).…”

“…Subsequently additional cases of hematological malignancy associated with mediastinal germ cell tumors have been shown to contain the I (12p) abnormality (Ikdahl et al, 2008;Vlasveld, Splinter, Hagemeijer, Van Lom, & Lowenberg, 1994;Woodruff et al, 1995;Yu, Kim, Cha, Park, & Kim, 2011), often along with +8 or other complex cytogenetic abnormalities. A recent review of published cases found about 65 reported cases of hematological abnormalities associated with mediastinal GCT (Yu et al, 2011) and some of them occur concurrently with the diagnosis of GCT (Ikdahl et al, 2008). Many cases of hematological malignancy associated with mediastinal GCT are of uncommon subtypes such as acute megakaryoblastic leukemia and it has been suggested that the detection of such neoplasms in young adult males should prompt a search for mediastinal GCT (Ikdahl et al, 2008).…”

“…A recent review of published cases found about 65 reported cases of hematological abnormalities associated with mediastinal GCT (Yu et al, 2011) and some of them occur concurrently with the diagnosis of GCT (Ikdahl et al, 2008). Many cases of hematological malignancy associated with mediastinal GCT are of uncommon subtypes such as acute megakaryoblastic leukemia and it has been suggested that the detection of such neoplasms in young adult males should prompt a search for mediastinal GCT (Ikdahl et al, 2008). Besides i(12p), Kleinfelter's syndrome is 30 to 40 times more common in patients with mediastinal GCT than the general population (Lachman, Kim, & Koo, 1986).…”

“…Germ cell tumors (GCT) constitute only 1-2% of human cancers but are the commonest malignant tumors encountered in adolescent and young adult males (Ikdahl, Josefsen, Jakobsen, Delabie, & Fossa, 2008). Secondary hematological malignancies may occur in patients with testicular GCT as a result of prior chemotherapy (Nichols et al, 1985), but most hematological neoplasms arising in mediastinal GCT arise either shortly after the diagnosis of GCT or concurrently with the GCT (Hartmann et al, 2000;Nichols et al, 1985).…”