Posted in Histopathology, Neuropathology, pathology

CENTRAL CHROMATOLYSIS

Central chromatolysis is a condition seen in neurons with axonal reaction.

Lets look at the details now.

  1. Axonal reaction is a change observed in the cell body during regeneration of the axon; it is best seen in anterior horn cells of the spinal cord when motor axons are cut or seriously damaged.
  2. The increase in protein synthesis that occurs in response to the injury is reflected in enlargement and rounding up of the cell body, peripheral displacement of the nucleus, enlargement of the nucleolus, and dispersion of Nissl substance from the center to the periphery of the cell (central chromatolysis).

Below is a pictorial difference between normal neurons and neurons with axonal reaction.

REVIEW QUESTIONS

1. Axonal reaction is visible in which of the which of the following regions of the central nervous system?

A. Posterior horn cells of the spinal cord

B. Anterior horn cells of the spinal cord

C. Cerebral cortex

D. Cerebellum

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Answer is B: Axonal reaction is a change observed in the cell body during regeneration of the axon; it is best seen in anterior horn cells of the spinal cord when motor axons are cut or seriously damaged

2. Dispersion of nissil substance to the periphery of a neuron is characteristic of which of the following?

A. Axonal reaction

B. Wallerian degeneration

C. Neuronal degeneration

D. Red neurons.

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Answer is A:

The process described in the question is central chromatolysis and is associated with axonal reaction.

Posted in Histopathology, Molecular pathology, WEEKLY QUIZZES

MOLECULAR PATHOLOGY QUIZ

MOLECULAR PATHOLOGY QUIZ.

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  5. Various other boards.

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Posted in Female genital pathology, Histopathology

Familial biparental complete hydatidiform mole (CHM)

Familial biparental complete hydatidiform mole (CHM) – An update


👪 Represents 0.6 to 2.6% of CHM.


👪 Mutations of the NLRP7 on chr 19p and KHDC3L on chr 6p.

👪 Conventional CHM are usually of paternal origin (androgenic diploidy) , in contrast to familial CHM which are biparental .


👪 Autosomal recessive inheritance


👪 Patients present with recurrent complete hydatidiform mole.(CHM)


👪 Testing for p57 is negative similar to sporadic CHM.

Update WHO 2020 FGT.

Review question

Which of the following statements is false regarding Familial biparental complete hydatidiform mole (FBCHM)?
A) This condition is inherited in an autosomal recessive manner.
B) Germline mutations in NLRP7 are common
C) Patients present with recurrent complete hydatidiform mole (CHM)
D) P57 testing by Immunohistochemistry (IHC) is positive in cytotrophoblasts unlike complete mole.

CLICK TO REVEAL ANSWER

Correct answer is D: P57 testing by Immunohistochemistry (IHC) is negative in cytotrophoblasts complete mole both familial and sporadic CHM.

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Posted in Histopathology, pathology, Soft tissue pathology

A compilation of tumors associated with EWSR1 rearrangement.

EWSR1 rearrangements were first identified in Ewing sarcoma, but EWSR1-rearranged neoplasms now includes many tumour subtypes.

EWSR1 gene is located in chromosome 22q12.

Here is a compilation of tumors associated with EWSR1 rearrangement. This includes latest updates from the WHO 2020 5th edition of soft tissue and bone tumors.

TUMORS ASSOCIATED WITH EWSR1-REARRANGEMENT

  1. Ewings sarcoma
  2. Desmoplastic small round cell tumor (DSRCT)
  3. Extraskeletal myxoid chondrosarcoma (EMC)
  4. Angiomatoid fibrous histiocytoma (AFH)
  5. Clear cell sarcoma (CCS)
  6. Primary pulmonary myxoid sarcoma (PPMS)
  7. Salivary gland hyalinizing clear cell carcinomas
  8. Undifferentiated round cell sarcomas with EWSR-non ETS fusion- NEW ENTITY
  9. EWSR1 – SMAD3 fibroblastic tumor PROVISIONAL ENTITY
  10. Myxoid liposarcoma (MLPS)
  11. Clear cell sarcoma of the gastrointestinal tract (CCSGT)
  12. Mesothelioma

AN EASY WAY TO REMEMBER

1.Ewings sarcoma

Common EWSR1 fusion transcripts associated with Ewing’s sarcoma.

  • t(11;22)(q24;q12)of FLI1-EWSR1 genes
  • t(21;22)(q12q12)of ERG-EWSR1 genes
2.Desmoplastic small round cell tumor (DSRCT)
  • Has pathogenic balanced translocation t(11;22)(p13;q12) of the EWSR1 gene to the Wilms tumor (WT1 gene)
3.Extraskeletal myxoid chondrosarcoma (EMC)
  • t(9;22)(q22-31;q11-12): CHN-EWS fusion gene, is consistent marker for extraskeletal myxoid chondrosarcoma
4.Angiomatoid fibrous histIocytoma (AFH)
  • t(12;22)(q13;q12) creating ATF1-EWSR1 gene
  • t(2;22)(q33;q12) creating CREB1-EWSR1 gene 

However, the most common rearrangement in angiomatoid fibrous histoocytoma is t(12;16)(q13;p11) creating ATF1-FUS fusion.

5.Clear cell sarcoma (CCS)
  • t(12;22)(q13;q12): ATF1 and EWSR1
6.Primary pulmonary myxoid sarcoma (PPMS)
  • EWSR1 rearrangement is seen in 85% cases. Fusion partner is usually ATF1 same as AFH and CSS.
7.Salivary gland hyalinizing clear cell carcinomas
  • > 80% of cases have EWSR1-ATF1 fusion
8.Undifferentiated round cell sarcomas with EWSR-non ETS fusion- NEW ENTITY
  • EWSR1-NFATC2
  • EWSR1-PATZ1

Both have distinct morphologic features.- CHECK BELOW

9.EWSR1 – SMAD3 fibroblastic tumor PROVISIONAL ENTITY
  • EWSR1-SMAD1 fusion

HERE IS A QUICK SUMMARY

10.Myxoid liposarcoma (MLPS)
  • t(12;22)(q13;p11) – EWSR1-DDIT3 -rare

Most common translocation associated with t(12;16)(q13;p11) – FUS-DDIT3 is seen in 90%

11.Clear cell sarcoma of the gastrointestinal tract (CCSGT)
  • EWSR1-CREB fusion
12.Mesothelioma
  • EWSR1-YY1 appears to be uncommon

Did we miss out anything? Leave a reply.

Ref: WHO 5th edition soft tissue and bone tumors 2020

Posted in pathology, Soft tissue pathology, WEEKLY QUIZZES

SOFT TISSUE AND BONE TUMOR PATHOLOGY QUIZ

SOFT TISSUE AND BONE TUMORS PATHOLOGY QUIZ.

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  5. Various other boards.

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