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Granulosa cell tumors of the ovary: A karyotypic analysis
Abstracts
129
47~X,+9
clones. Four of the A A with abnormal clones recurred as G B M . O n e of two F_.Ashad a clone with a 45,XY,-17,-21,+ring ka~yotype and the other had no abnormalilies. T w o of f i v e O A had no abnormalities, one had a near triploid clone with 70,XXX,+4,+12,-3 karyotype and the other two each had multiple structural abnormalities. Although there is some resemblance between reported chromosomal abnormalities in G B M and those w e found in L G G s , the tumors with abnormal clones irrespectiveof the type of abnormality appear to progress to more aggressive tumors such as G B M .
B
22
CYTOGENETIC ANALYSIS OF A METASTATIC I ~ A T U R E TERATOMA OF THE OVARY. Zenon Gibas and Aleksander Talerman. Department of Pathology and Division of Medical Genetics, Thomas Jefferson University, Phila., PA. 19107. Mature cystic ovarian teratomas are clinically benign and show a normal 46,XX karyotype in the majority of. cases. Immature ovarian teratomas, on the other hand have a high propensity for mallgnancy and frequently show chromosomal abnormalities. Only a few cytogenetic studies of immature ovarian teratomas have been published to date. Host of these ~umo~s are characterize~ by simple numerical abnormalities. Structural abnormalities have not been reported in the literature. We wish to report a case of metastatic imm-ture ovarian teratoma with a stable dlcentric chromosome and monosomy for chromosome 4. A 17y.o. female present with back pain and ascltes. Ultrasound examination and CT scan revealed a left ovarian mass. The tumor was resected and hlstopathologic examination revealed a grade 3 immature and mature ovarian teratoma. There was a benign cystic teratoma in the right ovary. The patient was treated with comblna~ion chemotherapy. However a few months later she developed intraabdominal metastases and a right mediastlnal mass. A biopsy of this mass was obtained for chromosomal studies. Analysis of the tumor revealed the following clonal karyotype:45,XX,-4,dic(1)-90%/46,XX.lO%. Flow cytometry demonstrated a diploid DNA content. This case was characterized by metastatic disease insplte of administration of combination chemotherapy and unusual cytogene~Ic findings. A possible association between the presence of structural chromosome abnormalities and malignant potential in immature ovarian teratomas deserve further study.
B
23
C Y T O G E N E T I C S OF PEDIATRIC GERM C E L L TUMORS E~ PsrlmanMD, PP Long, CA Griffin MD. The Johns Hopkins Hospltal, Baltimore, Md. Adul~ ~sstlcular GCT have a consls~ent karyotyplc abnormality, Isochromosome 12p, L(12p). We report the karyotyplc analysls of 6 psdl,trlc GeTs. The age in years, sex, site, pathology, and karyo~ype are: l) I,M, ~ss~Is, ~eratoma, 46XY: 2) 2,M, testis, endodarmal slnu, tumor (EST), modal number 73-78 with multlple m~rk,r,; 3) 9,M, pineal, immature teratoms. ~7,XXY, dlr dup(ll)(q12-q22);
130
Abstracts 4) 6,M, pineal, teraComa, 4 8 , ~ 1 ~ : 5) 8,F, suprasellar, germinoma, 46XX; 6) I,F, abdominal wall, EST, modal number 77-78 wi~h multiple markers, one of which ts a small metacen~ric that may be an i(12p). Interphase cytogenetics using in sltu hybridization with a probe to the centromeri¢ domains of 12 was performed on patients i and 2, and the number of signals detected correlated with the meuaphase counts of chromosome 12. Therefore, the markers seen in patient 2 are unlikely to be i(12p). This study suggests that pedtacrlc terauomas arise in a diploid population, often in the setting of sex chromosomal abnormalities. Two EST show a modal count of 73-78 and complex karyotyplc abnormalities. This s~ggests tha~ some EST may begin ae a tetraplold llne, with non-random chromosomal loss. A single testlcular GCT in this study failed'to show ~he i(12p) seen in adult teauicular GCT. We conclude that pediatric teetlcular GCT may be karyo~yPtcally, and therefore pauhogenetically different from adult GCT.
B
24
~ ~.T. ~ ~,r~ A KARYOTYPIC ANALYSIS.
~
:
A.j. ~ V ~ . 1. , B. NI~I~Z~KO 2, J.C. NOI~1 , Ph. SI/q3N3 , Dept of Pathology (I)and o~f~:isse~ 13)Belgi~ HOSPITAL. Free University s . Dept o~ Biology and Genetics..~dical School, Gdansk,
poland. Most cytogenetic studies of ~.arian cancers deal with adenocarcincmas. Reports of :bAn-epithelial tu~ors are still few. We will present t%%~ cases of granulosa cell tumor studied histologically .u~ successfully
karyotyped. Case I showed monoscmy 21 in 4 of 50 cells (karyotype 45,XX,-21) frcm the tumor ar~ mosaicism 45,X/46,XX/ 47,XXX in peripheral blood. Case 2 had the karyotype 45,.~q,-6, dic t(6;~6)(q1~;q22)/ 44,XX,-6,-22,dic~6;16)(q11;~-'-')/46,XX,-6, dic t(6;16) (q11;q22),dic t(6;~6)(q11;q/=J tn 36 mitoses. The constitutional karyotype ~as 46,XX. The only other ovarian granul.~ cell tun~3r that have been cytogenetically character::ed (Teyssier et al, Cancer ~ Cytogenet ~4;~47-;52, 1985), also had loss of 6q material. We therefore suggest that st:-.~tural changes of 6q perhaps leading to loss of l~.:, are cc~rnon to granulosa cell tumors as they are :• a host of different adenocarcincrnas, including t.~-~e of the ovary.
B25 AGGRESSIVE ANGIOMYXOMA OF THE PELVIS: C Y T O G E N E T I C F I N D I N G S IN A S I N G L E CASE. H o r s m a n DE, B e r e a n KW, S a l s k i CB, C l e m e n t PB: C y t o g e n e t i c Laboratory, B r i t i s h C o l u m b i a Cancer Agency; Department of Anatomic Pathology,
129
47~X,+9
clones. Four of the A A with abnormal clones recurred as G B M . O n e of two F_.Ashad a clone with a 45,XY,-17,-21,+ring ka~yotype and the other had no abnormalilies. T w o of f i v e O A had no abnormalities, one had a near triploid clone with 70,XXX,+4,+12,-3 karyotype and the other two each had multiple structural abnormalities. Although there is some resemblance between reported chromosomal abnormalities in G B M and those w e found in L G G s , the tumors with abnormal clones irrespectiveof the type of abnormality appear to progress to more aggressive tumors such as G B M .
B
22
CYTOGENETIC ANALYSIS OF A METASTATIC I ~ A T U R E TERATOMA OF THE OVARY. Zenon Gibas and Aleksander Talerman. Department of Pathology and Division of Medical Genetics, Thomas Jefferson University, Phila., PA. 19107. Mature cystic ovarian teratomas are clinically benign and show a normal 46,XX karyotype in the majority of. cases. Immature ovarian teratomas, on the other hand have a high propensity for mallgnancy and frequently show chromosomal abnormalities. Only a few cytogenetic studies of immature ovarian teratomas have been published to date. Host of these ~umo~s are characterize~ by simple numerical abnormalities. Structural abnormalities have not been reported in the literature. We wish to report a case of metastatic imm-ture ovarian teratoma with a stable dlcentric chromosome and monosomy for chromosome 4. A 17y.o. female present with back pain and ascltes. Ultrasound examination and CT scan revealed a left ovarian mass. The tumor was resected and hlstopathologic examination revealed a grade 3 immature and mature ovarian teratoma. There was a benign cystic teratoma in the right ovary. The patient was treated with comblna~ion chemotherapy. However a few months later she developed intraabdominal metastases and a right mediastlnal mass. A biopsy of this mass was obtained for chromosomal studies. Analysis of the tumor revealed the following clonal karyotype:45,XX,-4,dic(1)-90%/46,XX.lO%. Flow cytometry demonstrated a diploid DNA content. This case was characterized by metastatic disease insplte of administration of combination chemotherapy and unusual cytogene~Ic findings. A possible association between the presence of structural chromosome abnormalities and malignant potential in immature ovarian teratomas deserve further study.
B
23
C Y T O G E N E T I C S OF PEDIATRIC GERM C E L L TUMORS E~ PsrlmanMD, PP Long, CA Griffin MD. The Johns Hopkins Hospltal, Baltimore, Md. Adul~ ~sstlcular GCT have a consls~ent karyotyplc abnormality, Isochromosome 12p, L(12p). We report the karyotyplc analysls of 6 psdl,trlc GeTs. The age in years, sex, site, pathology, and karyo~ype are: l) I,M, ~ss~Is, ~eratoma, 46XY: 2) 2,M, testis, endodarmal slnu, tumor (EST), modal number 73-78 with multlple m~rk,r,; 3) 9,M, pineal, immature teratoms. ~7,XXY, dlr dup(ll)(q12-q22);
130
Abstracts 4) 6,M, pineal, teraComa, 4 8 , ~ 1 ~ : 5) 8,F, suprasellar, germinoma, 46XX; 6) I,F, abdominal wall, EST, modal number 77-78 wi~h multiple markers, one of which ts a small metacen~ric that may be an i(12p). Interphase cytogenetics using in sltu hybridization with a probe to the centromeri¢ domains of 12 was performed on patients i and 2, and the number of signals detected correlated with the meuaphase counts of chromosome 12. Therefore, the markers seen in patient 2 are unlikely to be i(12p). This study suggests that pedtacrlc terauomas arise in a diploid population, often in the setting of sex chromosomal abnormalities. Two EST show a modal count of 73-78 and complex karyotyplc abnormalities. This s~ggests tha~ some EST may begin ae a tetraplold llne, with non-random chromosomal loss. A single testlcular GCT in this study failed'to show ~he i(12p) seen in adult teauicular GCT. We conclude that pediatric teetlcular GCT may be karyo~yPtcally, and therefore pauhogenetically different from adult GCT.
B
24
~ ~.T. ~ ~,r~ A KARYOTYPIC ANALYSIS.
~
:
A.j. ~ V ~ . 1. , B. NI~I~Z~KO 2, J.C. NOI~1 , Ph. SI/q3N3 , Dept of Pathology (I)and o~f~:isse~ 13)Belgi~ HOSPITAL. Free University s . Dept o~ Biology and Genetics..~dical School, Gdansk,
poland. Most cytogenetic studies of ~.arian cancers deal with adenocarcincmas. Reports of :bAn-epithelial tu~ors are still few. We will present t%%~ cases of granulosa cell tumor studied histologically .u~ successfully
karyotyped. Case I showed monoscmy 21 in 4 of 50 cells (karyotype 45,XX,-21) frcm the tumor ar~ mosaicism 45,X/46,XX/ 47,XXX in peripheral blood. Case 2 had the karyotype 45,.~q,-6, dic t(6;~6)(q1~;q22)/ 44,XX,-6,-22,dic~6;16)(q11;~-'-')/46,XX,-6, dic t(6;16) (q11;q22),dic t(6;~6)(q11;q/=J tn 36 mitoses. The constitutional karyotype ~as 46,XX. The only other ovarian granul.~ cell tun~3r that have been cytogenetically character::ed (Teyssier et al, Cancer ~ Cytogenet ~4;~47-;52, 1985), also had loss of 6q material. We therefore suggest that st:-.~tural changes of 6q perhaps leading to loss of l~.:, are cc~rnon to granulosa cell tumors as they are :• a host of different adenocarcincrnas, including t.~-~e of the ovary.
B25 AGGRESSIVE ANGIOMYXOMA OF THE PELVIS: C Y T O G E N E T I C F I N D I N G S IN A S I N G L E CASE. H o r s m a n DE, B e r e a n KW, S a l s k i CB, C l e m e n t PB: C y t o g e n e t i c Laboratory, B r i t i s h C o l u m b i a Cancer Agency; Department of Anatomic Pathology,