Ovarian Leydig cells (OLC): A histomorphological and immunohistochemical study.

Testicular Leydig cells (LC) regulate the proper development of male individuals, both during fetal life (fetal LC) and puberty (adult LC). In the ovaries of adult women, there are cells that are very similar to Leydig cells, the ovarian hilus cells (OHC), which also produce testosterone. The origin of these cells, in both sexes, remains unknown and is still a matter of debate. We have studied the location, characteristics and relationships of the OHC in 90 patients. The indications for oophorectomy were: metrorrhagia (n=9), prolapse (n=8), endometrial hyperplasia (n=14), cancer (endometrial, myometrial, or cervical) (n=35), uterine leiomyomata (n=14), and various ovarian tumors (cysts and benign tumors, borderline and malignant) (n=10). In addition to the hilus, occasionally the nodules, nests and clusters of OHC were located in the mesovarium, the mesosalpinx, and in the medullar and cortical regions of the ovaries. The morphological (including crystalloids of Reinke) and immunohistochemical (positivity for calretinin and alpha-inhibin) findings were similar to those described for testicular LC. Therefore, OHC can be considered ovarian Leydig cells (OLC). LC are usually found in small numbers in the ovaries, but if one looks for them intentionally, one always finds them. Close relationships were observed between the OLC with nerves and vessels. Moreover, an intraneural location of the OLC was demonstrated in all cases, and these intraneural cells showed similar characteristics to extraneural OLC, suggesting that they derive from endoneural cells which are present in the vegetative nerves of the ovaries.

De novo trisomy 16p.

We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2-->p12).

Deletion (7)(p11p15) in a patient with Philadelphia-positive chronic myelogenous leukemia.

We report a case of chronic myelogenous leukemia (CML) with a Philadelphia (Ph) chromosome. During the transformation phase of the disease, a del(7)(p11p15) and a +Ph were identified as additional chromosomal anomalies. We believe that loss of the segment 7p11-->p15 may play an important role in the progression of the disease.

Translocation (5;19)(q13;q13) in a multinodular thyroid goiter.

We describe the cytogenetics of a multinodular thyroid goiter where 90% of the analyzed cells showed a diploid karyotype with a balanced translocation between chromosomes 5 and 19: 46,XX,t(5;19)(q13;q13). This translocation has been previously described in cases of thyroid adenoma. Our case is the first report of this anomaly in nodular hyperplasia. We discuss its putative role in the neoplastic transformation of thyroid lesions.

AML with unusual chromosomal changes. Translocation (15;21) and 5q- in the presence of two normal chromosomes 5.

We performed serial cytogenetic studies of the bone marrow (BM) of a patient with acute myeloblastic leukemia (AML) and noted abnormal karyotypes 47,XY,+del(5)(q12q34),t(15;21)(q21;q22)/47,XY,+del(5)(q12q34 ) during the second relapse. Although a case of this t(15;21) was recently observed in a female patient with acute nonlymphocytic leukemia (ANLL) of subtype M4 of the French-American-British (FAB) classification, the present article constitutes the first report of its occurrence in association with ANLL of subtype M1-M2. Furthermore, the presence of the 5q- accompanied by two chromosomes 5 of normal appearance is very rare and of great interest.

Deletion of exon b3 of the BCR gene in CML: easy breakpoint mapping by a two-round PCR.

We have performed the molecular analysis for the detection of the BCR-ABL and ABL-BCR fusion genes in 50 patients with myeloproliferative disorders. All patients diagnosed with CML (13 out of 50) were positive for the BCR-ABL hybrid. Six CML patients (46%) showed ABL-BCR amplifications of the Ib-BCR type. All rearrangements but one were concordant. The aberrant case presented a deletion of exon b3, in addition to the alternative Ib-BCR and Ia-BCR. Its possible origin and relevance are briefly discussed.

Case report. Pulmonary involvement in an adult male affected by type B Niemann-Pick disease.

We report the case of a 39-year-old male patient affected by type B Niemann-Pick disease, in whom pulmonary involvement became evident 15 years after the initial diagnosis. Pulmonary involvement was discovered incidentally during the evaluation of a dry cough and exertional dyspnoea which occurred in the context of an acute febrile, self-limiting illness. In this case, the pulmonary involvement is clinically mild, with minimal alteration of the diffusing capacity for carbon monoxide (DL(CO)), despite moderate fibrosis and widespread infiltration of both alveoli and interstitium by sea blue histiocytes.

A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis.

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this 'de novo' rearrangement is discussed.

Small marker chromosomes in a series of 1,000 prenatal diagnoses by amniocentesis.

We diagnosed two small marker chromosomes in a series of 1,000 prenatal cytogenetic studies of amniotic fluid cells. Each of these chromosomes was analyzed with various staining techniques in order to determine its structure and the possible mechanism of its formation. On the basis of the results thus obtained and the familial nature of these abnormalities, we predicted phenotypically normal fetuses in both cases. Postnatal follow-up confirmed this. Notwithstanding the correct diagnoses made in these two cases, we feel that a more substantial body of literature on this type of anomaly must become available before it will be possible to give firm genetic counselling in such cases.