Refractory anemia with excess of blasts and isochromosome 12p in a patient with primary mediastinal germ-cell tumor

Solé, Françesc; Bosch, Francesc; Woessner, S; Pérez-Losada, A.; Cervantes, Francisco; Montserrat, Emili; Florensa, Lourdes; Rozmán, C

doi:10.1016/0165-4608(94)90224-0

Cited by 16 publications

(5 citation statements)

References 13 publications

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“…This isochromosome was first described in 1982 by Atkin and Baker (56, 57), and is now considered characteristic for TGCT (30, for review). The i(12p) is a general phenomenon of type II tumours, i.e., it is found in seminoma/(dys)germinoma and nonseminomas of the various anatomical locations (58–67). Up to 80% of the invasive TGCT have i(12p) (37, for review).…”

Section: Gain Of 12p Is a Consistent Finding In Invasive Type II Gctmentioning

confidence: 99%

Role of gain of 12p in germ cell tumour development

Looijenga

Zafarana

Grygalewicz

et al. 2003

APMIS

128

108

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Within the human testis, three entities of germ cell tumours are distinguished: the teratomas and yolk sac tumors of newborn and infants, the seminomas and nonseminomas of adolescents and young adults, referred to as testicular germ cell tumours (TGCT), and the spermatocytic seminomas. Characteristic chromosomal anomalies have been reported for each group, supporting their distinct pathogenesis. TGCT are the most common cancer in young adult men. The initiating pathogenetic event of these tumours occurs during embryonal development, affecting a primordial germ cell or gonocyte. Despite this intra-uterine initiation, the tumour will only be clinically manifest after puberty, with carcinoma in situ (IS) as the precursor. All invasive TGCT, both seminomas and nonseminomas, as well as CIS cells are aneuploid. The only consistent (structural) chromosomal abnormalities in invasive TGCT are gains of the short arm of chromosome 12, mostly due to isochromosome (i(12p)) formation. This suggests that an increase in copy number of a gene(s) on 12p is associated with the development of a clinically manifest TGCT. Despite the numerous (positional) candidate gene approaches that have been undertaken thus far, identification of a causative gene(s) has been hampered by the fact that most 12p gains involve rather large genomic intervals, containing unmanageable numbers of candidate genes. Several years ago, we initiated a search for 12p candidate genes using TGCT with a restricted 12p-amplification, cytogenetically identified as 12p11.2-p12.1. This approach is mainly based on identification of candidate genes mapped within the shortest region of overlap of amplification (SROA). In this review, data will be presented, which support the model that gain of 12p-sequences is associated with suppression of apoptosis and Sertoli cell-independence of CIS cells. So far, DAD-R is one of the most likely candidate genes involved in this process, possibly via N-glycosylation. Preliminary results on high through-put DNA- and cDNA array analyses of 12p-sequences will be presented.

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Section: Gain Of 12p Is a Consistent Finding In Invasive Type II Gctmentioning

confidence: 99%

Role of gain of 12p in germ cell tumour development

Looijenga

Zafarana

Grygalewicz

et al. 2003

APMIS

128

108

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“…It was not present at diagnosis, and when i(12p) was gained at relapse it was always additional to the t(15;17), a primary abnormality of well-established pathogenetic significance in AML-M3. AML-M3 has not been reported among over 50 patients with GCT and haematological disease (Orazi et al, 1993;Solé et al, 1994;Vlasfeld et al, 1994;Woodruff et al, 1995), making it highly unlikely that the i(12p) in case 1 indicates the existence of a biological association between AML-M3 and GCT. Similarly, AML-M1 diagnosed in case 2 has only occasionally been reported in patients with GCT, most of whom develop AML of M4, M7, or unclassified subtypes (Vlasfeld et al, 1994).…”

Section: Discussionmentioning

confidence: 99%

Isochromosome 12p in two cases of acute myeloid leukaemia without evidence of germ cell tumour

et al. 1996

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An isochromosome 12p [i(12p)], typical of germ cell tumours (GCT), has, to date, been observed in 10 cases of acute myeloid leukaemia (AML) or myelodysplastic syndrome, nine of which had concurrent or preceding GCT. We report two i(12p)-positive AML cases without clinical evidence of GCT. One patient with AML-M1 had two i(12p) as the only cytogenetic anomalies. In the other case of AML-M3 with t(15;17)(q22;q11-12) at diagnosis, the i(12p) was clearly a secondary rearrangement since it first appeared at relapse and always accompanied the t(15;17). Our results suggest that i(12p) does not always indicate neoplastic disease of germ cell origin.

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“…chronic myeloid leukaemia, essential thrombocytosis, primary myelofibrosis) 159 or myelodysplasia (e.g. with blast excess), 148,151,158,159,167 as well as malignant histiocytosis, 150,151,155,159,168,169 histiocytic sarcoma, 170 malignant mastocytosis, 171 and granulocytic sarcoma, 172,173 with acute megakaryoblastic leukaemia (AML-M7) being the most common HM. 6,174 The diagnostic criteria and immunohistochemical markers are identical, as in their somatic counterparts.…”

Section: Pmgcts With Associated Haematological Malignanciesmentioning

confidence: 99%

Primary germ cell tumours of the mediastinum: A review with emphasis on diagnostic challenges

Fichtner,

Marx,

Ströbel

et al. 2023

Histopathology

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This article will review current aspects of the histopathological, immunohistochemical and molecular analysis of primary mediastinal germ cell tumours (PMGCTs) as well as their aetiological, epidemiological, clinical and therapeutic features. PMGCTs represent an important differential diagnosis in the spectrum of mediastinal tumours, and their diagnosis is usually made on small tissue samples from core needle biopsies in combination with diagnostic imaging and serum tumour markers. As in lymphomas, a small biopsy is often the only viable tumour sample available from these patients, as they receive chemotherapy prior to eventual surgical resection. Pathologists therefore need to apply an efficient combination of immunohistochemical markers to confirm the diagnosis of a PMGCT and to exclude morphological mimics.

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Refractory anemia with excess of blasts and isochromosome 12p in a patient with primary mediastinal germ-cell tumor

Cited by 16 publications

References 13 publications

Role of gain of 12p in germ cell tumour development

Role of gain of 12p in germ cell tumour development

Isochromosome 12p in two cases of acute myeloid leukaemia without evidence of germ cell tumour

Primary germ cell tumours of the mediastinum: A review with emphasis on diagnostic challenges

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