APCON 2008
Chennai
NATIONAL
PATHOLOGY QUIZ – 8
Answers
Q 1: Mother having HbD and b0 thalassemia genes in the cis
position
The mother is homozygous for an abnormal hemoglobin in the position of Hemoglobin D. She is also a carrier for a b thalassemia gene as evidenced by the raised Hb A2. The baby has homozygous b thalassemia (Thalassemia intermedia phenotype).
The problem here is that Hb D is not seen in the baby! In other words, the abnormal hemoglobin gene that he has inherited from his mother is not expressed.
This is best explained by the baby inheriting the beta gene haplotype from mother containing HbD and b0 thalassemia in cis position. The father has probably contributed another b thalassemia gene, probably b+ in view of the thalassemia intermedia phenotype that the baby has. The situation is as in the figure below.
Satisfactory answers: 8.3%
Links
Q 2: Spermatocytic semiinoma
Orchidectomy specimen showing a grey tan tumor which is faintly lobulated. The slide shows cells of three sizes, large, intermediate and small. The nuclei of some cells have a fine spireme or tangled filament appearance that is seen in meiotic cells in the testis.
Correct answers: 77.8%
Links
Q 3: Sex cord tumor with annular
tubules, ovary
A spotter meant for pattern recognition and for earning some easy points. Large ovarian tumor in a girl with precocious puberty. See the simple and complex tubules containing eosinophilic hyaline material.
Correct answers: 22.2%
Links
1. SCTAT
Q 4:
Lymphomatous poyposis /
Nodular lymphoid hyperplasia.
IHC for CD 20, bcl2, CD5, Cyclin D1, CD 43
The large lymphoid aggregates spanning the entire mucosa and submucosa can either be lymphoma or the rare Nodular lymphoid hyperplasia which is a reactive condition. The most common lymphoma that can present in this fashion is mantle cell lymphoma. Follicular lymphoma and MALT lymphomas may also present in this manner occasionally.
Immunohistochemistry for distinguishing these conditions is needed for final diagnosis.
This particular case turned out to be a Follicular lymphoma.
Correct answers: 45.8%
Links
1. Nodular lymphoid hyperplasia
Q 5: Pneumocystis jirovecii pneumonia
The foamy exudate in the alveoli is so characteristic that having seen it once you will never make a mistake the next time.
Here is the GMS stain.
Correct answers: 44.4%
Links:
Q 6: Fetal
lung
Simple one. See the developing bronchus and the regular small tubules. Well-differentiated fetal type adenocarcinoma is the only remote differential. It is a type of pulmonary blastoma and will not have such an organized structure.
Correct answers: 22.2%
Links:
1. Well-Differentiated Fetal Type Adenocarcinoma
Q 7: Wilms
tumor with rhabdomyoblastic differentiation
Tubular and spindle cells along with areas of (lower left) rhabdomyoblastic differentiation.
Correct answers: 58.3%
Links:
1. Wilms tumor
Q 8: NPHS1
Renal biopsy in a 2 month old baby would be done only in case of nephrotic syndrome or hereditary nephritis. The biopsy shows dilated proximal tubules and Bowman’s spaces. This is typical of Congenital nephrotic syndrome (Finnish type).
It is an autosomal recessive disease involving NPHS1 gene encoding the transmembrane protein, Nephrin.
Correct answers: 41.7%
Links: